Incidental Mutation 'IGL01064:Or10ak8'
ID 50832
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 # IGL01064
Quality Score
Chromosome 4
Chromosomal Location 118773721-118774662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118774091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 191 (M191K)
Ref Sequence ENSEMBL: ENSMUSP00000071870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071979]
AlphaFold L7MTV4
Predicted Effect possibly damaging
Transcript: ENSMUST00000071979
AA Change: M191K

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000071870
Gene: ENSMUSG00000096705
AA Change: M191K

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,433,855 (GRCm39) T4137S probably benign Het
Abcb1a T C 5: 8,782,388 (GRCm39) Y924H possibly damaging Het
Ash1l T G 3: 88,979,791 (GRCm39) C2772G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpne6 T C 14: 55,750,187 (GRCm39) F106S probably damaging Het
Cysltr1 A T X: 105,622,342 (GRCm39) I48N probably damaging Het
Dsg1a A T 18: 20,473,263 (GRCm39) I779F probably damaging Het
Fpr-rs4 T A 17: 18,242,779 (GRCm39) L262H probably damaging Het
Gart G A 16: 91,419,895 (GRCm39) R871C probably damaging Het
Get4 C T 5: 139,238,277 (GRCm39) R20C probably damaging Het
Gm13030 G A 4: 138,600,869 (GRCm39) probably benign Het
Gm17654 A T 14: 43,816,455 (GRCm39) H49Q unknown Het
Gpnmb A G 6: 49,032,593 (GRCm39) I506V probably benign Het
Ist1 T C 8: 110,409,243 (GRCm39) I86V probably damaging Het
Kcnip1 C T 11: 33,583,192 (GRCm39) D198N probably damaging Het
Kif5c A G 2: 49,584,828 (GRCm39) I184V possibly damaging Het
Mink1 A T 11: 70,494,307 (GRCm39) M236L probably benign Het
Muc5ac A T 7: 141,361,210 (GRCm39) N1507I probably benign Het
Nrxn2 G T 19: 6,567,083 (GRCm39) E1326D probably damaging Het
Or51q1 A T 7: 103,628,999 (GRCm39) Y200F probably benign Het
Or5b3 T C 19: 13,388,590 (GRCm39) I219T probably benign Het
Patj T C 4: 98,385,210 (GRCm39) S326P possibly damaging Het
Pdha2 T C 3: 140,916,776 (GRCm39) H244R possibly damaging Het
Pgap4 C T 4: 49,586,860 (GRCm39) V103M possibly damaging Het
Pkhd1 C T 1: 20,604,754 (GRCm39) probably benign Het
Ptk7 A T 17: 46,884,492 (GRCm39) L746* probably null Het
Rad54b G A 4: 11,604,866 (GRCm39) G438D probably damaging Het
Rbm27 T C 18: 42,452,879 (GRCm39) V536A possibly damaging Het
Rundc3b T A 5: 8,619,553 (GRCm39) M135L probably damaging Het
Sorcs2 T C 5: 36,222,696 (GRCm39) Y353C probably damaging Het
Srcap T C 7: 127,159,064 (GRCm39) probably benign Het
Sytl5 A G X: 9,771,834 (GRCm39) H66R probably benign Het
Tlr7 T A X: 166,091,207 (GRCm39) E93V probably damaging Het
Tmem156 A G 5: 65,237,327 (GRCm39) L76S probably damaging Het
Tomm70a T C 16: 56,972,975 (GRCm39) F571S probably damaging Het
Trmt10b A G 4: 45,314,347 (GRCm39) Y261C possibly damaging Het
Other mutations in Or10ak8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02092:Or10ak8 APN 4 118,774,187 (GRCm39) missense possibly damaging 0.72
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 2013-06-21