Incidental Mutation 'IGL02092:Or10ak8'
ID 279443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10ak8
Ensembl Gene ENSMUSG00000096705
Gene Name olfactory receptor family 10 subfamily AK member 8
Synonyms Olfr1329, MOR259-2, GA_x6K02T2QD9B-18619941-18620882
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL02092
Quality Score
Status
Chromosome 4
Chromosomal Location 118773721-118774662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118774187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 159 (L159S)
Ref Sequence ENSEMBL: ENSMUSP00000071870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071979]
AlphaFold L7MTV4
Predicted Effect possibly damaging
Transcript: ENSMUST00000071979
AA Change: L159S

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071870
Gene: ENSMUSG00000096705
AA Change: L159S

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 4.3e-55 PFAM
Pfam:7TM_GPCR_Srsx 36 306 1.5e-6 PFAM
Pfam:7tm_1 42 291 5.7e-25 PFAM
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010H22Rik T A 5: 98,714,627 (GRCm39) probably benign Het
Birc7 A T 2: 180,574,979 (GRCm39) R238S probably benign Het
Cdc42bpg C A 19: 6,366,856 (GRCm39) probably benign Het
Ces3a T C 8: 105,776,962 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,211,137 (GRCm39) F517S probably damaging Het
Cracr2b A G 7: 141,044,869 (GRCm39) E201G probably damaging Het
Cyth3 T C 5: 143,693,140 (GRCm39) probably benign Het
Exoc2 A T 13: 31,059,260 (GRCm39) N611K probably benign Het
Fign A T 2: 63,810,927 (GRCm39) N114K possibly damaging Het
Gabrb3 A G 7: 57,415,334 (GRCm39) T135A probably damaging Het
Htra3 T C 5: 35,828,416 (GRCm39) K155E probably damaging Het
Inpp5f T C 7: 128,286,948 (GRCm39) L609S probably damaging Het
Kcp C A 6: 29,489,031 (GRCm39) probably null Het
Map4k4 A G 1: 40,025,943 (GRCm39) K311R probably benign Het
Map4k4 A G 1: 40,063,508 (GRCm39) K1228E probably damaging Het
Muc20 G A 16: 32,614,642 (GRCm39) S245F probably damaging Het
Or7g33 T A 9: 19,449,046 (GRCm39) Y60F probably damaging Het
Or8b36 T G 9: 37,937,917 (GRCm39) S272A possibly damaging Het
Pi4ka A G 16: 17,136,360 (GRCm39) M892T probably benign Het
Ptpn22 A G 3: 103,784,637 (GRCm39) T234A probably damaging Het
Sema4g G A 19: 44,981,078 (GRCm39) probably null Het
Slc35a3 A G 3: 116,474,781 (GRCm39) S204P probably damaging Het
Speer4f2 C T 5: 17,581,627 (GRCm39) Q190* probably null Het
Szt2 A G 4: 118,220,529 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,900 (GRCm39) Y104H probably damaging Het
Trim23 A G 13: 104,324,120 (GRCm39) E173G probably benign Het
Trpm6 T C 19: 18,749,695 (GRCm39) I8T possibly damaging Het
Trpv1 T A 11: 73,136,905 (GRCm39) probably benign Het
Ufsp2 T C 8: 46,448,701 (GRCm39) probably null Het
Wwc2 T C 8: 48,317,570 (GRCm39) D669G unknown Het
Zfp940 T C 7: 29,545,626 (GRCm39) T94A probably benign Het
Zfp947 T G 17: 22,366,477 (GRCm39) D17A probably damaging Het
Other mutations in Or10ak8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Or10ak8 APN 4 118,774,091 (GRCm39) missense possibly damaging 0.67
IGL02065:Or10ak8 APN 4 118,773,968 (GRCm39) missense probably benign 0.00
IGL02085:Or10ak8 APN 4 118,773,947 (GRCm39) missense probably damaging 1.00
IGL02557:Or10ak8 APN 4 118,774,389 (GRCm39) missense probably benign 0.00
R0129:Or10ak8 UTSW 4 118,774,667 (GRCm39) splice site probably null
R0411:Or10ak8 UTSW 4 118,773,823 (GRCm39) missense possibly damaging 0.87
R5001:Or10ak8 UTSW 4 118,774,440 (GRCm39) missense probably damaging 0.97
R5313:Or10ak8 UTSW 4 118,773,995 (GRCm39) missense probably benign 0.00
R5733:Or10ak8 UTSW 4 118,774,035 (GRCm39) missense probably benign 0.00
R6153:Or10ak8 UTSW 4 118,773,944 (GRCm39) missense probably damaging 1.00
R6274:Or10ak8 UTSW 4 118,774,427 (GRCm39) missense probably benign 0.01
R7671:Or10ak8 UTSW 4 118,774,183 (GRCm39) missense probably benign 0.02
R8358:Or10ak8 UTSW 4 118,773,723 (GRCm39) makesense probably null
R8696:Or10ak8 UTSW 4 118,774,635 (GRCm39) missense probably benign 0.23
R8881:Or10ak8 UTSW 4 118,774,571 (GRCm39) missense probably benign 0.01
R9599:Or10ak8 UTSW 4 118,773,851 (GRCm39) missense probably benign 0.00
R9655:Or10ak8 UTSW 4 118,773,804 (GRCm39) missense probably damaging 1.00
Z1088:Or10ak8 UTSW 4 118,773,785 (GRCm39) missense probably damaging 1.00
Z1176:Or10ak8 UTSW 4 118,774,332 (GRCm39) missense probably damaging 0.96
Z1176:Or10ak8 UTSW 4 118,774,224 (GRCm39) missense probably benign 0.21
Posted On 2015-04-16