Rgr retinal G protein coupled receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rgrprovided by MGI
Official Full Name: retinal G protein coupled receptorprovided by MGI
Primary source: MGI:MGI:1929473
See related: Ensembl:ENSMUSG00000021804 AllianceGenome:MGI:1929473
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: The gene is a member of the opsin family of G-protein coupled receptors. The encoded protein is expressed in the retina, and acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. Disruption of a similar gene in human is associated with autosomal recessive (arRP) and autosomal dominant retinitis pigmentosa (adRP). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 14 B; 14 21.29 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (36756866..36770971, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (37034909..37049014, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proteopathy Linked to Exon-Skipping Isoform of RGR-Opsin Contributes to the Pathogenesis of Age-Related Macular Degeneration.
Title: Proteopathy Linked to Exon-Skipping Isoform of RGR-Opsin Contributes to the Pathogenesis of Age-Related Macular Degeneration.
Human RGR Gene and Associated Features of Age-Related Macular Degeneration in Models of Retina-Choriocapillaris Atrophy.
Title: Human RGR Gene and Associated Features of Age-Related Macular Degeneration in Models of Retina-Choriocapillaris Atrophy.
RGR opsin and retinol dehydrogenase-10 (Rdh10) convert all-trans-retinol to 11-cis-retinol during exposure to visible light. Cones in Rgr-/- retinas lost sensitivity at a faster rate than cones in Rgr+/+ retinas. A similar effect was seen in Rgr+/+ retinas following treatment with the glial cell toxin, alpha-aminoadipic acid.
Title: Light-Driven Regeneration of Cone Visual Pigments through a Mechanism Involving RGR Opsin in Müller Glial Cells.
RGR-opsin mediates light-dependent translocation of all-trans-retinyl esters from a storage pool in lipid droplets to an "isomerase pool" in membranes of the endoplasmic reticulum.
Title: Retinal pigment epithelium-retinal G protein receptor-opsin mediates light-dependent translocation of all-trans-retinyl esters for synthesis of visual chromophore in retinal pigment epithelial cells.
The role of Rgr using rgr-/- single and rdh5-/-rgr-/- double knockout mice under a number of light conditions was studied; results suggest that RGR and RDH5 are likely to function in the retinoid cycle, although their role is not essential
Title: Evaluation of the role of the retinal G protein-coupled receptor (RGR) in the vertebrate retina in vivo.
structure of rhodopsin and opsin dimer in native membranes
Title: Organization of the G protein-coupled receptors rhodopsin and opsin in native membranes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

Rgr (e-PCR), detects polymorphism
- UniSTS:265742

NoName (e-PCR)
- UniSTS:492910

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled photoreceptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables photoreceptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cellular response to light stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in phototransduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: RPE-retinal G protein-coupled receptor

Names: RGR opsin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001301692.1 → NP_001288621.1 RPE-retinal G protein-coupled receptor isoform 2

See identical proteins and their annotated locations for NP_001288621.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and uses an alternate downstream start codon compared to variant 1. The resulting protein (isoform 2) has a distinct N-terminus and is shorter compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AK044450, BC082611, CK622127, CK626179

UniProtKB/TrEMBL

Q543X1

Conserved Domains (2) summary

cd14964
Location:22 → 38

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:13 → 169

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_001301694.1 → NP_001288623.1 RPE-retinal G protein-coupled receptor isoform 2

See identical proteins and their annotated locations for NP_001288623.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site and lacks an alternate exon in the 5' coding region, and uses an alternate downstream start codon compared to variant 1. The resulting protein (isoform 2) has a distinct N-terminus and is shorter compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AK044450, BC082611, CK622127, CK623457

UniProtKB/TrEMBL

Q543X1

Conserved Domains (2) summary

cd14964
Location:22 → 38

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:13 → 169

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_021340.4 → NP_067315.1 RPE-retinal G protein-coupled receptor isoform 1

See identical proteins and their annotated locations for NP_067315.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AK044450, BC082611, CK622127

Consensus CDS

CCDS26949.1

UniProtKB/Swiss-Prot

Q9Z2B3

UniProtKB/TrEMBL

Q3UEX9, Q543X1

Related

ENSMUSP00000022338.6, ENSMUST00000022338.7

Conserved Domains (1) summary

cl18967
Location:38 → 139

Csx17_I-U; CRISPR/Cas system-associated protein Csx17

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

36756866..36770971 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011245125.2 → XP_011243427.1 RPE-retinal G protein-coupled receptor isoform X1

See identical proteins and their annotated locations for XP_011243427.1

Conserved Domains (2) summary

cd14964
Location:22 → 38

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:13 → 169

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017316102.2 → XP_017171591.1 RPE-retinal G protein-coupled receptor isoform X2

Conserved Domains (2) summary

cd14964
Location:18 → 38

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:13 → 159

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_036158773.1 → XP_036014666.1 RPE-retinal G protein-coupled receptor isoform X3

Conserved Domains (2) summary

cd14964
Location:18 → 38

7tm_GPCRs; TM helix 4 [structural motif]

cl28897
Location:13 → 144

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily