Incidental Mutation 'IGL02646:Or8h9'
ID 301947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8h9
Ensembl Gene ENSMUSG00000075168
Gene Name olfactory receptor family 8 subfamily H member 9
Synonyms GA_x6K02T2Q125-48446067-48445129, MOR206-3, Olfr1099
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02646
Quality Score
Status
Chromosome 2
Chromosomal Location 86788862-86789800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86789697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 35 (Y35C)
Ref Sequence ENSEMBL: ENSMUSP00000149528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099871] [ENSMUST00000213456]
AlphaFold Q8VG37
Predicted Effect probably damaging
Transcript: ENSMUST00000099871
AA Change: Y35C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097456
Gene: ENSMUSG00000075168
AA Change: Y35C

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.9e-54 PFAM
Pfam:7tm_1 41 290 1.2e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213456
AA Change: Y35C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T A 4: 137,182,101 (GRCm39) Y85* probably null Het
Abcg2 A G 6: 58,662,681 (GRCm39) I508V probably benign Het
Adgrb2 T C 4: 129,913,075 (GRCm39) probably null Het
Api5 T A 2: 94,260,184 (GRCm39) H24L possibly damaging Het
Apoh T C 11: 108,302,968 (GRCm39) V311A probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Brca2 G T 5: 150,484,255 (GRCm39) V2994L possibly damaging Het
Brd1 A T 15: 88,585,080 (GRCm39) V918D probably damaging Het
Calr3 T G 8: 73,197,304 (GRCm39) D43A possibly damaging Het
Cdh16 T C 8: 105,348,737 (GRCm39) probably null Het
Cep192 T C 18: 67,995,548 (GRCm39) S2033P probably damaging Het
Dnah7a G A 1: 53,564,194 (GRCm39) T1955M probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Dync1i1 A G 6: 5,767,034 (GRCm39) D86G probably benign Het
Eri2 T C 7: 119,385,331 (GRCm39) D390G possibly damaging Het
Fank1 C T 7: 133,481,758 (GRCm39) probably benign Het
Hoxb7 A T 11: 96,177,570 (GRCm39) Y6F possibly damaging Het
Hspg2 A C 4: 137,279,159 (GRCm39) S3081R possibly damaging Het
Kcnt1 T A 2: 25,790,892 (GRCm39) probably benign Het
Med13 A G 11: 86,174,212 (GRCm39) I1762T probably benign Het
Mia2 A G 12: 59,155,622 (GRCm39) D445G probably damaging Het
Plcg2 A T 8: 118,330,622 (GRCm39) I827F possibly damaging Het
Poglut3 A G 9: 53,295,551 (GRCm39) D51G probably benign Het
Rnls C A 19: 33,115,684 (GRCm39) probably benign Het
Scn1a A T 2: 66,129,962 (GRCm39) probably null Het
Sec22b T A 3: 97,828,561 (GRCm39) V208E possibly damaging Het
Slc8a3 A T 12: 81,361,868 (GRCm39) I317N probably damaging Het
Snx33 A G 9: 56,834,043 (GRCm39) Y9H probably damaging Het
Stard9 C A 2: 120,529,473 (GRCm39) T1910N probably damaging Het
Tas2r122 T A 6: 132,688,753 (GRCm39) I47F probably damaging Het
Tedc1 T G 12: 113,120,921 (GRCm39) L118V possibly damaging Het
Tln2 A T 9: 67,163,278 (GRCm39) S1090T probably benign Het
Tpcn2 T C 7: 144,812,311 (GRCm39) D511G probably benign Het
Usp21 T C 1: 171,110,669 (GRCm39) probably benign Het
Vmn2r17 T A 5: 109,600,946 (GRCm39) L748Q probably damaging Het
Zp2 T C 7: 119,734,564 (GRCm39) D495G possibly damaging Het
Other mutations in Or8h9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Or8h9 APN 2 86,789,265 (GRCm39) missense possibly damaging 0.90
IGL01624:Or8h9 APN 2 86,789,574 (GRCm39) missense probably benign 0.05
IGL02119:Or8h9 APN 2 86,789,527 (GRCm39) missense probably benign 0.24
IGL02433:Or8h9 APN 2 86,789,392 (GRCm39) missense possibly damaging 0.63
IGL02824:Or8h9 APN 2 86,789,337 (GRCm39) missense probably benign 0.03
IGL03228:Or8h9 APN 2 86,789,050 (GRCm39) missense probably benign 0.16
R0208:Or8h9 UTSW 2 86,789,748 (GRCm39) missense probably damaging 0.96
R0521:Or8h9 UTSW 2 86,789,190 (GRCm39) missense probably damaging 1.00
R0783:Or8h9 UTSW 2 86,788,906 (GRCm39) missense probably benign
R1706:Or8h9 UTSW 2 86,789,424 (GRCm39) missense probably damaging 1.00
R1859:Or8h9 UTSW 2 86,789,425 (GRCm39) missense probably damaging 0.99
R2046:Or8h9 UTSW 2 86,789,077 (GRCm39) missense possibly damaging 0.75
R2126:Or8h9 UTSW 2 86,789,442 (GRCm39) missense possibly damaging 0.63
R2140:Or8h9 UTSW 2 86,789,625 (GRCm39) missense probably damaging 1.00
R4452:Or8h9 UTSW 2 86,789,043 (GRCm39) missense probably damaging 0.99
R4680:Or8h9 UTSW 2 86,789,665 (GRCm39) missense possibly damaging 0.87
R4958:Or8h9 UTSW 2 86,789,449 (GRCm39) missense possibly damaging 0.75
R4970:Or8h9 UTSW 2 86,789,698 (GRCm39) missense probably damaging 1.00
R5112:Or8h9 UTSW 2 86,789,698 (GRCm39) missense probably damaging 1.00
R5532:Or8h9 UTSW 2 86,788,924 (GRCm39) nonsense probably null
R5691:Or8h9 UTSW 2 86,789,616 (GRCm39) missense probably damaging 1.00
R6851:Or8h9 UTSW 2 86,789,611 (GRCm39) missense possibly damaging 0.46
R6858:Or8h9 UTSW 2 86,789,034 (GRCm39) missense probably benign 0.11
R7368:Or8h9 UTSW 2 86,789,602 (GRCm39) missense probably damaging 1.00
R9014:Or8h9 UTSW 2 86,789,035 (GRCm39) missense probably benign 0.03
R9474:Or8h9 UTSW 2 86,789,757 (GRCm39) missense probably benign 0.03
R9792:Or8h9 UTSW 2 86,789,119 (GRCm39) missense probably damaging 1.00
R9793:Or8h9 UTSW 2 86,789,119 (GRCm39) missense probably damaging 1.00
R9795:Or8h9 UTSW 2 86,789,119 (GRCm39) missense probably damaging 1.00
Z1088:Or8h9 UTSW 2 86,789,010 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16