Incidental Mutation 'IGL01771:Olfr1090'
ID153845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1090
Ensembl Gene ENSMUSG00000075172
Gene Nameolfactory receptor 1090
SynonymsGA_x6K02T2Q125-48247345-48246404, MOR188-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL01771
Quality Score
Status
Chromosome2
Chromosomal Location86752724-86758993 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 86754282 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 152 (C152Y)
Ref Sequence ENSEMBL: ENSMUSP00000149968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099875] [ENSMUST00000215991] [ENSMUST00000217043]
Predicted Effect probably benign
Transcript: ENSMUST00000099875
AA Change: C152Y

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097460
Gene: ENSMUSG00000075172
AA Change: C152Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.4e-47 PFAM
Pfam:7tm_1 41 290 7.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215991
AA Change: C152Y

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000217043
AA Change: C152Y

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn10 T A 1: 92,940,365 W185R probably damaging Het
Frmd8 A G 19: 5,869,575 L148P probably damaging Het
Gk5 T C 9: 96,177,435 C447R probably damaging Het
Hip1r T A 5: 123,999,543 V704D possibly damaging Het
Kcnj10 C A 1: 172,369,583 H221Q probably benign Het
Klk1b8 A T 7: 43,954,866 I253L probably damaging Het
Olfr204 T C 16: 59,314,528 N293S probably damaging Het
Olfr389 A T 11: 73,776,664 I221N probably damaging Het
Olfr431-ps1 T C 1: 174,051,321 probably benign Het
Olfr51 A G 11: 51,007,766 T265A probably benign Het
Pdp2 A T 8: 104,594,122 Y201F probably benign Het
Ppfia1 A T 7: 144,482,357 I1112K probably benign Het
Ppwd1 A G 13: 104,217,116 I378T probably damaging Het
Rhbdd1 T A 1: 82,377,592 D248E probably benign Het
Sec14l5 T C 16: 5,178,630 probably null Het
Sel1l3 T G 5: 53,121,841 D960A probably damaging Het
Slc35f3 T C 8: 126,389,212 Y293H probably benign Het
Wwc1 A G 11: 35,853,358 probably null Het
Zan T C 5: 137,393,068 N4718S unknown Het
Zfyve16 T C 13: 92,522,172 I410M probably benign Het
Other mutations in Olfr1090
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Olfr1090 APN 2 86753970 missense probably benign 0.42
IGL01343:Olfr1090 APN 2 86754499 nonsense probably null
IGL01431:Olfr1090 APN 2 86754164 missense probably benign 0.12
IGL03182:Olfr1090 APN 2 86754022 missense probably damaging 1.00
IGL03229:Olfr1090 APN 2 86754016 missense probably damaging 1.00
R0126:Olfr1090 UTSW 2 86754637 missense probably damaging 0.99
R0128:Olfr1090 UTSW 2 86753887 missense probably benign 0.39
R0130:Olfr1090 UTSW 2 86753887 missense probably benign 0.39
R1383:Olfr1090 UTSW 2 86754494 missense possibly damaging 0.80
R2100:Olfr1090 UTSW 2 86754561 missense possibly damaging 0.80
R2125:Olfr1090 UTSW 2 86754452 missense probably benign 0.00
R2126:Olfr1090 UTSW 2 86754452 missense probably benign 0.00
R2249:Olfr1090 UTSW 2 86754054 missense probably damaging 0.98
R3695:Olfr1090 UTSW 2 86753871 missense probably damaging 1.00
R3878:Olfr1090 UTSW 2 86754628 missense probably benign 0.02
R3940:Olfr1090 UTSW 2 86753931 missense possibly damaging 0.52
R3944:Olfr1090 UTSW 2 86754181 missense probably benign 0.17
R3975:Olfr1090 UTSW 2 86754543 missense probably damaging 0.99
R4387:Olfr1090 UTSW 2 86754120 missense probably benign 0.42
R4623:Olfr1090 UTSW 2 86754562 missense possibly damaging 0.80
R4740:Olfr1090 UTSW 2 86753811 missense probably benign 0.00
R6775:Olfr1090 UTSW 2 86754577 missense probably damaging 1.00
R7002:Olfr1090 UTSW 2 86754681 missense probably benign 0.01
Posted On2014-02-04