Incidental Mutation 'IGL01462:Rgr'
ID 88005
Institutional Source Australian Phenomics Network (link to record)
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: 0.075) question?
Stock # IGL01462
Quality Score
Status
Chromosome 14
Chromosomal Location 36756866-36770921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36766566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 160 (T160K)
Ref Sequence ENSEMBL: ENSMUSP00000153012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022338] [ENSMUST00000225070] [ENSMUST00000225229] [ENSMUST00000225403]
AlphaFold Q9Z2B3
Predicted Effect probably damaging
Transcript: ENSMUST00000022338
AA Change: T160K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022338
Gene: ENSMUSG00000021804
AA Change: T160K

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: T160K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C A 6: 92,871,247 (GRCm39) A30S probably benign Het
Aspg A G 12: 112,089,387 (GRCm39) T392A probably benign Het
Atp8b5 C A 4: 43,368,010 (GRCm39) Q878K possibly damaging Het
Ccdc85a G T 11: 28,526,506 (GRCm39) H339Q probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cog4 C T 8: 111,592,717 (GRCm39) T430M probably benign Het
Col6a5 A G 9: 105,823,274 (GRCm39) Y28H unknown Het
Cth A T 3: 157,610,804 (GRCm39) Y343N probably damaging Het
Dctn3 A T 4: 41,719,854 (GRCm39) L84* probably null Het
Epha5 A T 5: 84,219,092 (GRCm39) I868N probably damaging Het
Ephb2 T C 4: 136,498,681 (GRCm39) N133D possibly damaging Het
Epor G A 9: 21,870,752 (GRCm39) P376L probably damaging Het
Gsdme A G 6: 50,204,354 (GRCm39) V201A possibly damaging Het
Hdgf G A 3: 87,821,831 (GRCm39) E149K possibly damaging Het
Lrrfip2 T C 9: 111,034,917 (GRCm39) probably null Het
Ly6g6d T C 17: 35,293,226 (GRCm39) I40V probably benign Het
Mlh3 G A 12: 85,313,510 (GRCm39) T892I probably benign Het
Mmp19 C T 10: 128,634,011 (GRCm39) T304I probably damaging Het
Mmp28 T C 11: 83,334,602 (GRCm39) D384G possibly damaging Het
Moxd1 T C 10: 24,120,286 (GRCm39) probably null Het
Mtcl3 T G 10: 29,024,254 (GRCm39) L390R probably damaging Het
Ncapg T C 5: 45,828,477 (GRCm39) V76A probably benign Het
Nos1 C T 5: 118,005,774 (GRCm39) R165C probably benign Het
Or1e1c T C 11: 73,265,578 (GRCm39) M1T probably null Het
Or2a57 A G 6: 43,212,559 (GRCm39) T6A possibly damaging Het
Pik3c2a T A 7: 115,975,485 (GRCm39) H694L possibly damaging Het
Psme2 A G 14: 55,827,128 (GRCm39) L60P probably damaging Het
Ptpn23 A G 9: 110,237,175 (GRCm39) V4A probably benign Het
Serpind1 A G 16: 17,154,787 (GRCm39) I205V probably benign Het
Skap2 T C 6: 51,898,280 (GRCm39) Y150C probably damaging Het
Srsf9 T C 5: 115,470,187 (GRCm39) S122P probably damaging Het
Stox1 T G 10: 62,500,461 (GRCm39) I700L probably benign Het
Tada1 A G 1: 166,216,294 (GRCm39) D165G probably damaging Het
Traf5 A G 1: 191,731,828 (GRCm39) S338P probably benign Het
Trim39 G A 17: 36,574,617 (GRCm39) probably benign Het
Wbp2 G A 11: 115,972,066 (GRCm39) A130V possibly damaging Het
Zcchc17 T C 4: 130,230,902 (GRCm39) K96E probably benign Het
Zfp800 G A 6: 28,242,983 (GRCm39) L661F possibly damaging Het
Other mutations in Rgr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Rgr APN 14 36,760,875 (GRCm39) nonsense probably null
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
R7978:Rgr UTSW 14 36,766,645 (GRCm39) missense probably benign 0.00
Posted On 2013-11-18