Incidental Mutation 'IGL01771:Or8k40'
ID 153845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k40
Ensembl Gene ENSMUSG00000075172
Gene Name olfactory receptor family 8 subfamily K member 40
Synonyms MOR188-4, GA_x6K02T2Q125-48247345-48246404, Olfr1090
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL01771
Quality Score
Status
Chromosome 2
Chromosomal Location 86584139-86585080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86584626 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8VGA6
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: 92,868,087 (GRCm39) W185R probably damaging Het
Frmd8 A G 19: 5,919,603 (GRCm39) L148P probably damaging Het
Gk5 T C 9: 96,059,488 (GRCm39) C447R probably damaging Het
Hip1r T A 5: 124,137,606 (GRCm39) V704D possibly damaging Het
Kcnj10 C A 1: 172,197,150 (GRCm39) H221Q probably benign Het
Klk1b8 A T 7: 43,604,290 (GRCm39) I253L probably damaging Het
Or10aa4-ps1 T C 1: 173,878,887 (GRCm39) probably benign Het
Or1ad8 A G 11: 50,898,593 (GRCm39) T265A probably benign Het
Or1e29 A T 11: 73,667,490 (GRCm39) I221N probably damaging Het
Or5ac22 T C 16: 59,134,891 (GRCm39) N293S probably damaging Het
Pdp2 A T 8: 105,320,754 (GRCm39) Y201F probably benign Het
Ppfia1 A T 7: 144,036,094 (GRCm39) I1112K probably benign Het
Ppwd1 A G 13: 104,353,624 (GRCm39) I378T probably damaging Het
Rhbdd1 T A 1: 82,355,313 (GRCm39) D248E probably benign Het
Sec14l5 T C 16: 4,996,494 (GRCm39) probably null Het
Sel1l3 T G 5: 53,279,183 (GRCm39) D960A probably damaging Het
Slc35f3 T C 8: 127,115,951 (GRCm39) Y293H probably benign Het
Wwc1 A G 11: 35,744,185 (GRCm39) probably null Het
Zan T C 5: 137,391,330 (GRCm39) N4718S unknown Het
Zfyve16 T C 13: 92,658,680 (GRCm39) I410M probably benign Het
Other mutations in Or8k40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Or8k40 APN 2 86,584,314 (GRCm39) missense probably benign 0.42
IGL01343:Or8k40 APN 2 86,584,843 (GRCm39) nonsense probably null
IGL01431:Or8k40 APN 2 86,584,508 (GRCm39) missense probably benign 0.12
IGL03182:Or8k40 APN 2 86,584,366 (GRCm39) missense probably damaging 1.00
IGL03229:Or8k40 APN 2 86,584,360 (GRCm39) missense probably damaging 1.00
R0126:Or8k40 UTSW 2 86,584,981 (GRCm39) missense probably damaging 0.99
R0128:Or8k40 UTSW 2 86,584,231 (GRCm39) missense probably benign 0.39
R0130:Or8k40 UTSW 2 86,584,231 (GRCm39) missense probably benign 0.39
R1383:Or8k40 UTSW 2 86,584,838 (GRCm39) missense possibly damaging 0.80
R2100:Or8k40 UTSW 2 86,584,905 (GRCm39) missense possibly damaging 0.80
R2125:Or8k40 UTSW 2 86,584,796 (GRCm39) missense probably benign 0.00
R2126:Or8k40 UTSW 2 86,584,796 (GRCm39) missense probably benign 0.00
R2249:Or8k40 UTSW 2 86,584,398 (GRCm39) missense probably damaging 0.98
R3695:Or8k40 UTSW 2 86,584,215 (GRCm39) missense probably damaging 1.00
R3878:Or8k40 UTSW 2 86,584,972 (GRCm39) missense probably benign 0.02
R3940:Or8k40 UTSW 2 86,584,275 (GRCm39) missense possibly damaging 0.52
R3944:Or8k40 UTSW 2 86,584,525 (GRCm39) missense probably benign 0.17
R3975:Or8k40 UTSW 2 86,584,887 (GRCm39) missense probably damaging 0.99
R4387:Or8k40 UTSW 2 86,584,464 (GRCm39) missense probably benign 0.42
R4623:Or8k40 UTSW 2 86,584,906 (GRCm39) missense possibly damaging 0.80
R4740:Or8k40 UTSW 2 86,584,155 (GRCm39) missense probably benign 0.00
R6775:Or8k40 UTSW 2 86,584,921 (GRCm39) missense probably damaging 1.00
R7002:Or8k40 UTSW 2 86,585,025 (GRCm39) missense probably benign 0.01
R7746:Or8k40 UTSW 2 86,584,437 (GRCm39) missense probably damaging 1.00
R8296:Or8k40 UTSW 2 86,584,893 (GRCm39) missense probably damaging 0.99
R9038:Or8k40 UTSW 2 86,584,354 (GRCm39) missense probably damaging 1.00
R9243:Or8k40 UTSW 2 86,584,282 (GRCm39) missense possibly damaging 0.78
Posted On 2014-02-04