Incidental Mutation 'IGL00933:Rgr'
ID28953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgr
Ensembl Gene ENSMUSG00000021804
Gene Nameretinal G protein coupled receptor
SynonymsRGR opsin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL00933
Quality Score
Status
Chromosome14
Chromosomal Location37034909-37048964 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 37038918 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 227 (Y227*)
Ref Sequence ENSEMBL: ENSMUSP00000153012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022338] [ENSMUST00000225070] [ENSMUST00000225229] [ENSMUST00000225403]
Predicted Effect probably null
Transcript: ENSMUST00000022338
AA Change: Y227*
SMART Domains Protein: ENSMUSP00000022338
Gene: ENSMUSG00000021804
AA Change: Y227*

DomainStartEndE-ValueType
Pfam:7tm_1 33 215 2.8e-24 PFAM
low complexity region 227 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224506
Predicted Effect probably null
Transcript: ENSMUST00000225070
AA Change: Y227*
Predicted Effect probably benign
Transcript: ENSMUST00000225229
Predicted Effect probably benign
Transcript: ENSMUST00000225403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225634
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: 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]
PHENOTYPE: Homozygotes for a targeted null mutation, following 8 hours of light, exhibit reductions in both total retinal (mostly 11-cis-retinal) and rhodopsin levels, and over-accumulate all-trans-retinal indicating an impaired visual cycle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc3 T A 13: 80,891,055 probably benign Het
Brca2 A G 5: 150,542,404 S1878G probably benign Het
Cpa6 T C 1: 10,337,370 H314R probably benign Het
Ehbp1l1 A G 19: 5,717,933 I1114T probably benign Het
Eml3 G A 19: 8,936,398 W73* probably null Het
Fmo4 G T 1: 162,794,023 Q540K probably benign Het
Fstl4 G A 11: 53,186,761 G782R possibly damaging Het
Itga11 T C 9: 62,769,305 I925T possibly damaging Het
Itsn2 T G 12: 4,707,540 F1411C probably damaging Het
Lmna A T 3: 88,482,549 C590S possibly damaging Het
Magi3 A G 3: 104,015,847 Y1185H probably benign Het
Marf1 A G 16: 14,117,357 Y1516H probably damaging Het
Mast4 T C 13: 102,735,366 D2306G probably damaging Het
Ncoa6 A G 2: 155,415,397 V742A probably damaging Het
Nol4l A G 2: 153,477,936 F175S probably damaging Het
Olfr826 A T 10: 130,180,214 M222K probably benign Het
Orm2 T C 4: 63,364,152 probably benign Het
Pik3cb T A 9: 99,101,286 T90S probably damaging Het
Plekhg2 G A 7: 28,360,689 P1072S probably benign Het
Snd1 T C 6: 28,512,986 probably null Het
Zfp560 A G 9: 20,348,808 S253P probably benign Het
Other mutations in Rgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Rgr APN 14 37044609 missense probably damaging 1.00
R0211:Rgr UTSW 14 37046968 missense probably damaging 1.00
R0211:Rgr UTSW 14 37046968 missense probably damaging 1.00
R0524:Rgr UTSW 14 37038295 missense probably benign
R0635:Rgr UTSW 14 37038947 nonsense probably null
R1450:Rgr UTSW 14 37044684 nonsense probably null
R1460:Rgr UTSW 14 37045726 missense probably damaging 1.00
R1520:Rgr UTSW 14 37044715 missense probably damaging 1.00
R2114:Rgr UTSW 14 37038852 splice site probably null
R7133:Rgr UTSW 14 37048925 start codon destroyed probably null 1.00
R7699:Rgr UTSW 14 37044595 missense probably damaging 1.00
R7700:Rgr UTSW 14 37044595 missense probably damaging 1.00
R7978:Rgr UTSW 14 37044688 missense probably benign 0.00
Posted On2013-04-17