Incidental Mutation 'IGL01549:Olfr1226'
ID90539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1226
Ensembl Gene ENSMUSG00000075097
Gene Nameolfactory receptor 1226
SynonymsGA_x6K02T2Q125-50672630-50671698, MOR233-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL01549
Quality Score
Status
Chromosome2
Chromosomal Location89188839-89200048 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 89193789 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 82 (V82I)
Ref Sequence ENSEMBL: ENSMUSP00000151855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099790] [ENSMUST00000214709] [ENSMUST00000215562] [ENSMUST00000215987] [ENSMUST00000216445] [ENSMUST00000217601] [ENSMUST00000220416]
Predicted Effect probably benign
Transcript: ENSMUST00000099790
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: V82I

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 6.5e-47 PFAM
Pfam:7tm_1 39 285 3.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214709
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000215562
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000215987
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000216445
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000217601
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000220416
AA Change: V82I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,468,035 V259I possibly damaging Het
Abhd4 C T 14: 54,267,132 T273I probably damaging Het
Adamtsl3 T C 7: 82,612,448 S1691P probably damaging Het
Anapc1 A G 2: 128,653,170 S901P probably benign Het
Ank3 C T 10: 69,932,420 S56F probably damaging Het
Ccdc74a A G 16: 17,650,542 S343G probably benign Het
Clec7a A T 6: 129,472,677 Y3* probably null Het
Il6 A G 5: 30,019,471 T170A probably benign Het
Itgax C A 7: 128,131,206 probably null Het
Lrrc17 A T 5: 21,570,290 R283S probably benign Het
Muc1 C T 3: 89,231,810 P533S probably damaging Het
Olfr1084 T C 2: 86,639,532 M59V possibly damaging Het
Olfr1084 A C 2: 86,639,361 S116A probably benign Het
Olfr1426 T A 19: 12,087,965 I276F probably benign Het
Olfr16 T C 1: 172,956,974 Y60H probably damaging Het
Olfr702 T C 7: 106,824,029 I166V probably benign Het
Pcnt A C 10: 76,367,486 probably null Het
Pde4b A T 4: 102,605,068 D647V probably damaging Het
Phldb2 T C 16: 45,774,318 M875V probably benign Het
Prkar2b T C 12: 32,061,072 E4G possibly damaging Het
Rab2a C A 4: 8,582,393 S125Y probably benign Het
Samm50 A G 15: 84,202,781 I264V probably benign Het
Sgsh C T 11: 119,350,929 A90T probably damaging Het
Tap2 A G 17: 34,214,329 T489A probably benign Het
Wdr38 T G 2: 39,000,718 S201R probably damaging Het
Zfhx4 A G 3: 5,399,462 D1560G probably damaging Het
Zfp462 A G 4: 55,013,181 T568A probably damaging Het
Other mutations in Olfr1226
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Olfr1226 APN 2 89193504 missense probably benign 0.00
IGL01073:Olfr1226 APN 2 89193137 missense possibly damaging 0.78
IGL01539:Olfr1226 APN 2 89193492 missense possibly damaging 0.81
IGL02040:Olfr1226 APN 2 89193563 missense probably benign 0.16
IGL02174:Olfr1226 APN 2 89193368 missense probably benign 0.01
IGL02322:Olfr1226 APN 2 89193462 missense probably damaging 0.99
IGL02881:Olfr1226 APN 2 89193641 missense probably damaging 1.00
IGL03336:Olfr1226 APN 2 89193897 missense probably benign 0.16
R1565:Olfr1226 UTSW 2 89193883 missense probably damaging 0.99
R3429:Olfr1226 UTSW 2 89193273 missense probably benign 0.04
R5668:Olfr1226 UTSW 2 89193826 missense possibly damaging 0.60
R6404:Olfr1226 UTSW 2 89193562 missense probably damaging 1.00
R6418:Olfr1226 UTSW 2 89193479 missense probably damaging 0.97
R7039:Olfr1226 UTSW 2 89193446 missense probably damaging 0.96
R7863:Olfr1226 UTSW 2 89193951 missense probably benign
R8097:Olfr1226 UTSW 2 89193632 missense probably damaging 1.00
R8544:Olfr1226 UTSW 2 89193968 missense possibly damaging 0.68
R8792:Olfr1226 UTSW 2 89193887 missense probably benign 0.00
Posted On2013-12-09