Incidental Mutation 'R1520:Rgr'
ID 167396
Institutional Source Beutler Lab
Gene Symbol Rgr
Ensembl Gene ENSMUSG00000021804
Gene Name retinal G protein coupled receptor
Synonyms RGR opsin
MMRRC Submission 039564-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R1520 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 36756866-36770921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36766672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 125 (W125R)
Ref Sequence ENSEMBL: ENSMUSP00000022338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022338] [ENSMUST00000225070] [ENSMUST00000225229] [ENSMUST00000225403]
AlphaFold Q9Z2B3
Predicted Effect probably damaging
Transcript: ENSMUST00000022338
AA Change: W125R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022338
Gene: ENSMUSG00000021804
AA Change: W125R

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 damaging
Transcript: ENSMUST00000225070
AA Change: W125R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect silent
Transcript: ENSMUST00000225229
Predicted Effect probably benign
Transcript: ENSMUST00000225403
AA Change: M84T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225634
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,844,664 (GRCm39) N1491S possibly damaging Het
Abcb1b G A 5: 8,864,768 (GRCm39) A249T probably damaging Het
Acacb A G 5: 114,340,001 (GRCm39) D804G possibly damaging Het
Agpat3 A T 10: 78,123,857 (GRCm39) M1K probably null Het
Akr1c12 A C 13: 4,326,298 (GRCm39) I61R probably damaging Het
Antxr2 G A 5: 98,108,551 (GRCm39) A320V probably benign Het
Aoc1l2 T A 6: 48,908,231 (GRCm39) Y410* probably null Het
Arhgef1 A G 7: 24,619,129 (GRCm39) R454G probably damaging Het
C1ql4 T C 15: 98,985,548 (GRCm39) H21R probably benign Het
Celsr3 T C 9: 108,725,857 (GRCm39) S3029P probably damaging Het
Chaf1a T C 17: 56,354,302 (GRCm39) C191R unknown Het
Corin A C 5: 72,488,238 (GRCm39) C627G probably damaging Het
Cyp3a11 T C 5: 145,799,263 (GRCm39) Y308C probably damaging Het
Cyp4a32 A G 4: 115,471,849 (GRCm39) N420S probably damaging Het
Eftud2 A G 11: 102,730,266 (GRCm39) S889P probably damaging Het
Eng A G 2: 32,562,953 (GRCm39) H267R probably benign Het
Ep400 A G 5: 110,839,644 (GRCm39) probably benign Het
Fmo9 G T 1: 166,495,024 (GRCm39) H292Q probably benign Het
Frmpd4 T C X: 166,275,949 (GRCm39) S373G probably damaging Het
Fsip2 T A 2: 82,811,058 (GRCm39) I2459K possibly damaging Het
Gbp5 A T 3: 142,213,775 (GRCm39) H523L probably damaging Het
Gpr65 T C 12: 98,241,434 (GRCm39) V29A probably benign Het
Igkv7-33 T A 6: 70,036,132 (GRCm39) probably benign Het
Iqcc G A 4: 129,510,762 (GRCm39) T251I possibly damaging Het
Jund A G 8: 71,151,923 (GRCm39) T73A probably benign Het
Kif14 A G 1: 136,431,062 (GRCm39) D1153G probably benign Het
Mcm8 T C 2: 132,681,375 (GRCm39) V617A probably benign Het
Mdga1 A G 17: 30,065,493 (GRCm39) F646L probably benign Het
Morc3 A G 16: 93,641,129 (GRCm39) K54E probably damaging Het
Mutyh T C 4: 116,674,749 (GRCm39) L357P probably damaging Het
Mylk4 T C 13: 32,896,821 (GRCm39) probably null Het
Or4k41 G A 2: 111,279,619 (GRCm39) V45I probably benign Het
Osbpl3 T A 6: 50,323,411 (GRCm39) D224V possibly damaging Het
Parp4 T C 14: 56,835,863 (GRCm39) I469T probably damaging Het
Pkd1l2 A G 8: 117,772,898 (GRCm39) V1043A probably benign Het
Plod3 A G 5: 137,020,165 (GRCm39) N460S probably damaging Het
Preb A G 5: 31,115,868 (GRCm39) F192L probably benign Het
Prkra T C 2: 76,469,622 (GRCm39) T146A possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rag2 T C 2: 101,460,476 (GRCm39) I262T probably damaging Het
Rit1 T A 3: 88,636,620 (GRCm39) F211I probably benign Het
Sc5d C T 9: 42,169,946 (GRCm39) V92I probably benign Het
Serinc2 C T 4: 130,154,543 (GRCm39) V234I probably benign Het
Srp54b T C 12: 55,304,354 (GRCm39) M434T possibly damaging Het
Srrt C A 5: 137,297,028 (GRCm39) R69L probably damaging Het
Sv2b A G 7: 74,807,077 (GRCm39) L191P probably damaging Het
Tcf12 C A 9: 71,790,388 (GRCm39) probably null Het
Tmem273 A T 14: 32,527,083 (GRCm39) probably benign Het
Tmem87b T C 2: 128,681,176 (GRCm39) probably null Het
Ttn T C 2: 76,647,392 (GRCm39) E11031G possibly damaging Het
Uaca A T 9: 60,778,663 (GRCm39) T1017S probably benign Het
Urb1 C A 16: 90,571,633 (GRCm39) V1059L probably benign Het
V1rd19 G A 7: 23,702,623 (GRCm39) A30T probably damaging Het
Vldlr C T 19: 27,217,943 (GRCm39) L91F probably damaging Het
Vldlr G T 19: 27,224,466 (GRCm39) A770S possibly damaging Het
Vmn2r80 A G 10: 79,030,594 (GRCm39) T807A probably damaging Het
Wwox C T 8: 115,438,873 (GRCm39) P313L probably benign Het
Zap70 T C 1: 36,810,036 (GRCm39) S49P probably damaging Het
Zfp317 A G 9: 19,559,144 (GRCm39) I453V possibly damaging 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
R1450:Rgr UTSW 14 36,766,641 (GRCm39) nonsense probably null
R1460:Rgr UTSW 14 36,767,683 (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
(F):5'- ACCTTACCTGTCACCCCTCGAATAG -3'
(R):5'- CCTTTCTCCGTGTGAGAAACTGCC -3'

Sequencing Primer
(F):5'- AGTCCAGTGTACAGCATGTC -3'
(R):5'- tctctctctctctctctctcttc -3'
Posted On 2014-04-13