Incidental Mutation 'IGL01722:Olfr1263'
ID105139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1263
Ensembl Gene ENSMUSG00000059112
Gene Nameolfactory receptor 1263
SynonymsMOR234-2, GA_x6K02T2Q125-51447049-51447969
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01722
Quality Score
Status
Chromosome2
Chromosomal Location90012131-90018424 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90015007 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 26 (C26R)
Ref Sequence ENSEMBL: ENSMUSP00000150959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111507] [ENSMUST00000214382] [ENSMUST00000216616] [ENSMUST00000217065]
Predicted Effect probably benign
Transcript: ENSMUST00000111507
AA Change: C26R

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: C26R

DomainStartEndE-ValueType
Pfam:7tm_4 25 299 7.6e-42 PFAM
Pfam:7TM_GPCR_Srsx 30 297 1.7e-5 PFAM
Pfam:7tm_1 36 282 2.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214382
AA Change: C26R

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216764
Predicted Effect probably benign
Transcript: ENSMUST00000217065
AA Change: C26R

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c T A 2: 58,283,549 probably benign Het
Alb G A 5: 90,470,839 probably null Het
Ankrd9 A G 12: 110,977,363 V46A probably damaging Het
Apol11a A T 15: 77,517,107 M265L probably benign Het
Ccdc158 T C 5: 92,662,739 N97D possibly damaging Het
Cobl T G 11: 12,253,987 H823P probably benign Het
Dnaja2 A T 8: 85,553,279 H90Q probably benign Het
Dpagt1 T C 9: 44,327,602 F73S possibly damaging Het
Dph3 C T 14: 32,085,460 E20K possibly damaging Het
Fam198a G A 9: 121,965,083 S101N possibly damaging Het
Fbxl13 G T 5: 21,490,414 T660K possibly damaging Het
Glt6d1 T C 2: 25,794,419 T192A probably benign Het
Mroh7 C T 4: 106,703,161 V649I probably benign Het
Mta3 T C 17: 83,755,643 Y4H possibly damaging Het
Myh14 A G 7: 44,643,532 L369P probably damaging Het
Olfr1385 G T 11: 49,494,966 L144F probably damaging Het
Paxx T C 2: 25,460,265 D110G probably damaging Het
Pcyox1 T G 6: 86,388,753 D493A probably damaging Het
Plk2 A G 13: 110,399,442 E560G probably benign Het
Rnf6 A G 5: 146,210,226 F661L probably benign Het
Sema4a T C 3: 88,438,184 K531E probably benign Het
Svs2 T C 2: 164,237,526 K154E possibly damaging Het
Tbx4 A T 11: 85,911,943 Q242L probably damaging Het
Tgm3 A T 2: 130,044,568 I570F probably damaging Het
Thrap3 A T 4: 126,165,529 M908K possibly damaging Het
Trmo A G 4: 46,386,092 probably null Het
Usp8 T A 2: 126,758,152 L997Q probably damaging Het
Vmn1r202 T C 13: 22,501,720 R176G probably benign Het
Vps52 T A 17: 33,961,615 Y308* probably null Het
Other mutations in Olfr1263
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Olfr1263 APN 2 90015719 missense probably damaging 1.00
IGL01512:Olfr1263 APN 2 90015292 missense probably damaging 1.00
IGL01787:Olfr1263 APN 2 90015311 missense probably damaging 1.00
IGL02376:Olfr1263 APN 2 90015460 missense probably benign 0.00
IGL03408:Olfr1263 APN 2 90015571 missense probably benign 0.35
R0367:Olfr1263 UTSW 2 90015772 missense probably damaging 0.99
R0765:Olfr1263 UTSW 2 90015670 missense probably benign 0.01
R1158:Olfr1263 UTSW 2 90015254 missense possibly damaging 0.94
R1705:Olfr1263 UTSW 2 90015511 missense possibly damaging 0.90
R1794:Olfr1263 UTSW 2 90015020 missense probably damaging 1.00
R2197:Olfr1263 UTSW 2 90015424 missense probably damaging 1.00
R2347:Olfr1263 UTSW 2 90015614 missense possibly damaging 0.82
R2442:Olfr1263 UTSW 2 90015341 missense probably benign
R3160:Olfr1263 UTSW 2 90015021 nonsense probably null
R3162:Olfr1263 UTSW 2 90015021 nonsense probably null
R4298:Olfr1263 UTSW 2 90015649 missense probably benign 0.13
R4898:Olfr1263 UTSW 2 90015418 missense probably damaging 1.00
R5340:Olfr1263 UTSW 2 90015362 missense probably benign
R6280:Olfr1263 UTSW 2 90015049 missense possibly damaging 0.62
R6367:Olfr1263 UTSW 2 90015016 missense probably benign 0.00
R6556:Olfr1263 UTSW 2 90015094 missense probably damaging 1.00
R7086:Olfr1263 UTSW 2 90015250 missense probably benign 0.07
R7502:Olfr1263 UTSW 2 90015011 missense probably benign 0.15
R7585:Olfr1263 UTSW 2 90015049 missense probably damaging 0.99
R8062:Olfr1263 UTSW 2 90015736 missense possibly damaging 0.93
Posted On2014-01-21