Incidental Mutation 'R1450:Rgr'
ID 162170
Institutional Source Beutler Lab
Gene Symbol Rgr
Ensembl Gene ENSMUSG00000021804
Gene Name retinal G protein coupled receptor
Synonyms RGR opsin
MMRRC Submission 039505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R1450 (G1)
Quality Score 212
Status Validated
Chromosome 14
Chromosomal Location 36756866-36770921 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 36766641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 94 (C94*)
Ref Sequence ENSEMBL: ENSMUSP00000153006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022338] [ENSMUST00000225070] [ENSMUST00000225229] [ENSMUST00000225403]
AlphaFold Q9Z2B3
Predicted Effect probably damaging
Transcript: ENSMUST00000022338
AA Change: V135E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022338
Gene: ENSMUSG00000021804
AA Change: V135E

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 possibly damaging
Transcript: ENSMUST00000225070
AA Change: V135E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect unknown
Transcript: ENSMUST00000225229
AA Change: C78S
Predicted Effect probably null
Transcript: ENSMUST00000225403
AA Change: C94*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225634
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.8%
Validation Efficiency 96% (73/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,380,531 (GRCm39) probably benign Het
Adh4 C T 3: 138,129,935 (GRCm39) P254S probably damaging Het
Amfr T C 8: 94,714,375 (GRCm39) T223A probably benign Het
Ank2 T C 3: 126,750,951 (GRCm39) T412A possibly damaging Het
Bag6 T A 17: 35,360,934 (GRCm39) D422E probably benign Het
Ccdc185 T G 1: 182,575,129 (GRCm39) Q520P possibly damaging Het
Cfap276 T A 3: 108,449,799 (GRCm39) probably null Het
Clock G A 5: 76,410,578 (GRCm39) Q98* probably null Het
Cngb3 A T 4: 19,395,922 (GRCm39) probably benign Het
Csmd1 T G 8: 15,995,180 (GRCm39) probably null Het
Cubn A G 2: 13,365,130 (GRCm39) L1636P probably damaging Het
Dennd4a A G 9: 64,818,947 (GRCm39) I1701V probably benign Het
Dgcr2 T C 16: 17,674,678 (GRCm39) H243R possibly damaging Het
Dimt1 A G 13: 107,084,151 (GRCm39) N46S probably benign Het
Dnah9 T C 11: 65,818,612 (GRCm39) Y58C probably damaging Het
Dsg1b T A 18: 20,542,241 (GRCm39) V916E probably damaging Het
Dst T C 1: 34,227,476 (GRCm39) S1690P probably damaging Het
Dst T A 1: 34,251,340 (GRCm39) I2131K probably damaging Het
Epb41l1 T C 2: 156,353,745 (GRCm39) probably benign Het
Fem1a T C 17: 56,564,579 (GRCm39) V224A probably damaging Het
Got2 C T 8: 96,598,614 (GRCm39) E203K probably benign Het
Hcar2 A T 5: 124,002,813 (GRCm39) I230N probably damaging Het
Herc3 A T 6: 58,853,500 (GRCm39) K554* probably null Het
Hfm1 A G 5: 107,066,324 (GRCm39) F35L probably damaging Het
Hmcn1 A G 1: 150,528,257 (GRCm39) probably benign Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hs2st1 C T 3: 144,140,479 (GRCm39) probably benign Het
Igfbp5 T A 1: 72,913,048 (GRCm39) D84V probably benign Het
Ints3 C A 3: 90,340,135 (GRCm39) L41F probably damaging Het
Ipo5 T C 14: 121,181,805 (GRCm39) V966A probably benign Het
Kif26a C T 12: 112,140,286 (GRCm39) T505M probably damaging Het
Kpna2 A G 11: 106,888,135 (GRCm39) S2P probably benign Het
Lct A G 1: 128,235,640 (GRCm39) S456P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc7 T G 3: 157,892,681 (GRCm39) I323L possibly damaging Het
Ly6g A G 15: 75,030,482 (GRCm39) K77R probably benign Het
Maea T C 5: 33,523,144 (GRCm39) probably null Het
Marco A T 1: 120,404,474 (GRCm39) probably benign Het
Mcmbp G T 7: 128,317,655 (GRCm39) probably benign Het
Mtcl3 A T 10: 29,023,736 (GRCm39) N361I probably damaging Het
Mtr T A 13: 12,208,619 (GRCm39) R1017W probably damaging Het
Myo15a T A 11: 60,386,308 (GRCm39) I1811N probably damaging Het
Nbeal2 G A 9: 110,462,740 (GRCm39) probably benign Het
Nlrp10 A G 7: 108,524,595 (GRCm39) V295A probably damaging Het
Or10ak7 T C 4: 118,791,707 (GRCm39) T111A probably benign Het
Or51ac3 A G 7: 103,213,658 (GRCm39) V276A probably benign Het
Or5e1 A T 7: 108,354,719 (GRCm39) I219F probably damaging Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Peg12 C A 7: 62,113,324 (GRCm39) G258* probably null Het
Pigc A G 1: 161,798,822 (GRCm39) Y268C probably benign Het
Pnisr G T 4: 21,874,912 (GRCm39) probably null Het
Poteg T C 8: 27,937,871 (GRCm39) F5S probably benign Het
Prss40 T A 1: 34,595,178 (GRCm39) I101F probably benign Het
Ptges3l T A 11: 101,312,731 (GRCm39) D113V possibly damaging Het
Raver2 T C 4: 100,993,349 (GRCm39) S510P possibly damaging Het
Rp1l1 T A 14: 64,265,599 (GRCm39) I395N probably benign Het
Sesn3 T A 9: 14,227,520 (GRCm39) H168Q possibly damaging Het
Sox30 C A 11: 45,908,098 (GRCm39) P755Q probably damaging Het
Stac3 T C 10: 127,340,754 (GRCm39) F173S probably damaging Het
Synj2 C A 17: 6,077,599 (GRCm39) probably benign Het
Tars3 A T 7: 65,297,244 (GRCm39) I120L probably benign Het
Tas2r124 A G 6: 132,732,019 (GRCm39) I109M probably damaging Het
Tm4sf19 A T 16: 32,226,781 (GRCm39) H190L probably damaging Het
Tmem143 T G 7: 45,556,532 (GRCm39) V179G probably damaging Het
Ubr4 T C 4: 139,195,339 (GRCm39) F1187S probably damaging Het
Ubtfl1 A G 9: 18,321,209 (GRCm39) R246G possibly damaging Het
Zdhhc5 A G 2: 84,532,733 (GRCm39) F57S probably damaging Het
Zfp40 A T 17: 23,394,232 (GRCm39) M717K probably benign Het
Other mutations in Rgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Rgr APN 14 36,760,875 (GRCm39) nonsense probably null
IGL01462:Rgr APN 14 36,766,566 (GRCm39) missense probably damaging 1.00
R0211:Rgr UTSW 14 36,768,925 (GRCm39) missense probably damaging 1.00
R0211:Rgr UTSW 14 36,768,925 (GRCm39) missense probably damaging 1.00
R0524:Rgr UTSW 14 36,760,252 (GRCm39) missense probably benign
R0635:Rgr UTSW 14 36,760,904 (GRCm39) nonsense probably null
R1460:Rgr UTSW 14 36,767,683 (GRCm39) missense probably damaging 1.00
R1520:Rgr UTSW 14 36,766,672 (GRCm39) missense probably damaging 1.00
R2114:Rgr UTSW 14 36,760,809 (GRCm39) splice site probably null
R7133:Rgr UTSW 14 36,770,882 (GRCm39) start codon destroyed probably null 1.00
R7699:Rgr UTSW 14 36,766,552 (GRCm39) missense probably damaging 1.00
R7700:Rgr UTSW 14 36,766,552 (GRCm39) missense probably damaging 1.00
R7978:Rgr UTSW 14 36,766,645 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-03-14