Incidental Mutation 'IGL02489:Or8h7'
ID 295536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8h7
Ensembl Gene ENSMUSG00000075170
Gene Name olfactory receptor family 8 subfamily H member 7
Synonyms MOR206-2, GA_x6K02T2Q125-48376288-48375341, Olfr1097
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02489
Quality Score
Status
Chromosome 2
Chromosomal Location 86720570-86722507 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86721339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 60 (Y60S)
Ref Sequence ENSEMBL: ENSMUSP00000150400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111576] [ENSMUST00000217403]
AlphaFold A2AVA9
Predicted Effect probably damaging
Transcript: ENSMUST00000111576
AA Change: Y60S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107202
Gene: ENSMUSG00000075170
AA Change: Y60S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8e-52 PFAM
Pfam:7tm_1 41 312 4.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217403
AA Change: Y60S

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,780,847 (GRCm39) probably benign Het
Aldh6a1 T C 12: 84,480,746 (GRCm39) T430A possibly damaging Het
Ankrd6 T C 4: 32,810,298 (GRCm39) D426G probably damaging Het
Arhgef37 A G 18: 61,639,540 (GRCm39) S280P possibly damaging Het
Bicd1 T C 6: 149,414,535 (GRCm39) L416P probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpp T C 13: 49,803,594 (GRCm39) probably null Het
Col5a2 T C 1: 45,431,971 (GRCm39) probably null Het
Ctsa A G 2: 164,680,565 (GRCm39) Y402C probably damaging Het
Dnah7a A G 1: 53,686,481 (GRCm39) V223A possibly damaging Het
Dnajb3 G T 1: 88,133,032 (GRCm39) N123K probably benign Het
Fhad1 G T 4: 141,684,931 (GRCm39) N469K probably damaging Het
Fmo3 G T 1: 162,781,856 (GRCm39) T499K possibly damaging Het
Gm10100 G A 10: 77,562,645 (GRCm39) C109Y probably benign Het
Lrrc27 G T 7: 138,805,977 (GRCm39) R214L probably benign Het
Mc5r T A 18: 68,472,597 (GRCm39) C319S probably damaging Het
Nwd2 A C 5: 63,962,570 (GRCm39) Y718S probably damaging Het
Ppa1 T A 10: 61,501,223 (GRCm39) D163E probably damaging Het
Ptprk G T 10: 28,259,468 (GRCm39) G303W probably damaging Het
Rnf182 T C 13: 43,821,779 (GRCm39) L110P probably damaging Het
Slc12a2 T C 18: 58,045,074 (GRCm39) F659S probably damaging Het
Slc5a3 T A 16: 91,874,593 (GRCm39) Y217N possibly damaging Het
Ttc41 G T 10: 86,596,778 (GRCm39) E1008* probably null Het
Unc80 T C 1: 66,564,860 (GRCm39) M849T probably benign Het
Vmn2r76 A T 7: 85,878,071 (GRCm39) I442N probably benign Het
Other mutations in Or8h7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Or8h7 APN 2 86,720,589 (GRCm39) missense probably benign
IGL01674:Or8h7 APN 2 86,721,093 (GRCm39) missense probably benign
IGL02089:Or8h7 APN 2 86,721,460 (GRCm39) missense possibly damaging 0.86
IGL02201:Or8h7 APN 2 86,721,420 (GRCm39) missense probably damaging 0.97
IGL02426:Or8h7 APN 2 86,720,964 (GRCm39) missense probably damaging 1.00
IGL02469:Or8h7 APN 2 86,721,499 (GRCm39) missense possibly damaging 0.91
IGL02817:Or8h7 APN 2 86,720,937 (GRCm39) missense probably benign
R0042:Or8h7 UTSW 2 86,720,835 (GRCm39) missense probably damaging 1.00
R0605:Or8h7 UTSW 2 86,720,763 (GRCm39) missense possibly damaging 0.65
R1867:Or8h7 UTSW 2 86,720,956 (GRCm39) missense probably damaging 0.98
R2412:Or8h7 UTSW 2 86,721,178 (GRCm39) missense probably benign 0.01
R4465:Or8h7 UTSW 2 86,721,494 (GRCm39) missense probably benign
R4520:Or8h7 UTSW 2 86,721,363 (GRCm39) missense probably benign 0.20
R5185:Or8h7 UTSW 2 86,720,946 (GRCm39) missense probably benign 0.42
R5329:Or8h7 UTSW 2 86,720,964 (GRCm39) missense probably damaging 1.00
R5496:Or8h7 UTSW 2 86,720,659 (GRCm39) missense probably damaging 1.00
R5496:Or8h7 UTSW 2 86,720,658 (GRCm39) missense probably damaging 1.00
R5847:Or8h7 UTSW 2 86,720,676 (GRCm39) missense probably damaging 0.99
R6288:Or8h7 UTSW 2 86,721,226 (GRCm39) missense probably benign 0.01
R6906:Or8h7 UTSW 2 86,721,091 (GRCm39) missense probably benign
R7161:Or8h7 UTSW 2 86,720,993 (GRCm39) missense probably benign 0.01
R7256:Or8h7 UTSW 2 86,720,956 (GRCm39) missense probably damaging 0.98
R7404:Or8h7 UTSW 2 86,721,217 (GRCm39) missense probably benign 0.05
R9236:Or8h7 UTSW 2 86,720,622 (GRCm39) missense probably benign
R9356:Or8h7 UTSW 2 86,720,605 (GRCm39) missense probably benign
R9542:Or8h7 UTSW 2 86,720,813 (GRCm39) missense probably benign 0.00
R9630:Or8h7 UTSW 2 86,720,956 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16