Incidental Mutation 'R7978:Rgr'
ID 651044
Institutional Source Beutler Lab
Gene Symbol Rgr
Ensembl Gene ENSMUSG00000021804
Gene Name retinal G protein coupled receptor
Synonyms RGR opsin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R7978 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 36756866-36770921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36766645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 134 (F134L)
Ref Sequence ENSEMBL: ENSMUSP00000022338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022338] [ENSMUST00000225070] [ENSMUST00000225229] [ENSMUST00000225403]
AlphaFold Q9Z2B3
Predicted Effect probably benign
Transcript: ENSMUST00000022338
AA Change: F134L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022338
Gene: ENSMUSG00000021804
AA Change: F134L

Pfam:7tm_1 33 215 2.8e-24 PFAM
low complexity region 227 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000225070
AA Change: F134L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect silent
Transcript: ENSMUST00000225229
Predicted Effect unknown
Transcript: ENSMUST00000225403
AA Change: V93A
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,036,515 (GRCm39) I342N probably damaging Het
Alb A T 5: 90,619,932 (GRCm39) N453I possibly damaging Het
Aox4 C A 1: 58,274,366 (GRCm39) S384Y probably damaging Het
Ap1g1 C T 8: 110,564,399 (GRCm39) R315* probably null Het
Cachd1 T C 4: 100,832,060 (GRCm39) Y741H probably damaging Het
Cacna2d2 C G 9: 107,395,456 (GRCm39) L661V probably benign Het
Ccdc90b T A 7: 92,216,921 (GRCm39) H64Q probably damaging Het
Ccdc93 C A 1: 121,426,960 (GRCm39) N582K possibly damaging Het
Cdh20 A G 1: 109,921,835 (GRCm39) probably benign Het
Cnksr1 T C 4: 133,963,342 (GRCm39) N78D probably damaging Het
Cttnbp2nl A G 3: 104,915,307 (GRCm39) V132A probably damaging Het
Cwc25 G A 11: 97,644,044 (GRCm39) Q230* probably null Het
Dsel G A 1: 111,787,449 (GRCm39) R1029* probably null Het
Fam120a T C 13: 49,055,750 (GRCm39) Y646C probably damaging Het
Hltf T C 3: 20,146,968 (GRCm39) W576R probably damaging Het
Hmcn2 A G 2: 31,279,359 (GRCm39) N1787S probably benign Het
Ift122 A G 6: 115,897,313 (GRCm39) E904G probably benign Het
Igkv17-121 C T 6: 68,013,806 (GRCm39) T2I unknown Het
Ino80 T G 2: 119,269,874 (GRCm39) R590S possibly damaging Het
Intu T A 3: 40,652,069 (GRCm39) I842N probably damaging Het
Itgae A T 11: 73,024,913 (GRCm39) T1015S probably damaging Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kcna10 A G 3: 107,101,663 (GRCm39) E98G probably damaging Het
Kcnb2 T A 1: 15,780,837 (GRCm39) Y570N probably benign Het
Kmt2c T C 5: 25,564,676 (GRCm39) I923V probably benign Het
Kptn A G 7: 15,859,697 (GRCm39) D307G probably damaging Het
Myo3b T C 2: 70,083,458 (GRCm39) Y704H probably damaging Het
Or12d13 A G 17: 37,647,392 (GRCm39) F244L probably benign Het
Or4c100 T A 2: 88,356,014 (GRCm39) L29* probably null Het
Or4c58 A T 2: 89,674,611 (GRCm39) C235* probably null Het
Or4f59 T C 2: 111,872,523 (GRCm39) T285A possibly damaging Het
Pmel G A 10: 128,551,819 (GRCm39) V218M probably damaging Het
Prkar2b T C 12: 32,013,024 (GRCm39) H364R possibly damaging Het
Psd4 T C 2: 24,294,867 (GRCm39) F809S probably damaging Het
Rabgap1l A G 1: 160,078,838 (GRCm39) S59P Het
Rspry1 G T 8: 95,349,753 (GRCm39) R47L probably damaging Het
Scd3 G T 19: 44,222,688 (GRCm39) E113* probably null Het
Slc22a12 G A 19: 6,586,938 (GRCm39) A476V possibly damaging Het
Smg1 T C 7: 117,792,878 (GRCm39) E560G unknown Het
Snx3 A G 10: 42,378,346 (GRCm39) D7G probably benign Het
Tbc1d12 A G 19: 38,905,285 (GRCm39) M667V probably benign Het
Tbc1d30 A T 10: 121,142,104 (GRCm39) V81E probably damaging Het
Tbc1d9 A T 8: 83,966,583 (GRCm39) I395F probably damaging Het
Tes C A 6: 17,096,322 (GRCm39) N103K probably benign Het
Tet2 T C 3: 133,193,426 (GRCm39) Y336C possibly damaging Het
Tgfbr3 T C 5: 107,287,726 (GRCm39) N491S probably damaging Het
Tomt T C 7: 101,549,554 (GRCm39) I245V probably damaging Het
Trbc1 T C 6: 41,515,236 (GRCm39) L28P Het
Trp63 T C 16: 25,639,436 (GRCm39) V208A unknown Het
Ttll8 G T 15: 88,799,565 (GRCm39) N625K probably benign Het
Ush2a T A 1: 188,132,135 (GRCm39) W786R probably benign Het
Vmn2r97 A T 17: 19,167,854 (GRCm39) I703F probably 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-15