Incidental Mutation 'IGL02491:Or10ak7'
ID 295627
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10ak7
Ensembl Gene ENSMUSG00000111259
Gene Name olfactory receptor family 10 subfamily AK member 7
Synonyms Olfr1519, MOR259-1, MOR259-13, GA_x6K02T2QD9B-18602750-18603691, MOR259-1, Olfr1328
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL02491
Quality Score
Status
Chromosome 4
Chromosomal Location 118791096-118792037 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118791358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 229 (L229H)
Ref Sequence ENSEMBL: ENSMUSP00000149039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081960] [ENSMUST00000215312]
AlphaFold A0A1L1SQF6
Predicted Effect probably damaging
Transcript: ENSMUST00000081960
AA Change: L227H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080626
Gene: ENSMUSG00000111259
AA Change: L227H

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.1e-53 PFAM
Pfam:7TM_GPCR_Srsx 36 306 9.1e-8 PFAM
Pfam:7tm_1 42 291 1.7e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215312
AA Change: L229H

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,067,794 (GRCm39) probably benign Het
Acacb T A 5: 114,330,166 (GRCm39) I443N probably damaging Het
C1qtnf3 A T 15: 10,972,067 (GRCm39) I118F possibly damaging Het
Carmil3 C T 14: 55,741,974 (GRCm39) A1148V probably benign Het
Ccdc62 A T 5: 124,099,378 (GRCm39) S677C probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col11a2 C A 17: 34,283,181 (GRCm39) probably benign Het
Cpsf7 A G 19: 10,517,001 (GRCm39) I368V possibly damaging Het
Csmd2 T C 4: 128,428,050 (GRCm39) S2934P probably benign Het
Csmd3 A G 15: 47,777,511 (GRCm39) probably benign Het
Cubn A G 2: 13,326,039 (GRCm39) Y2709H probably damaging Het
Cyp2d12 T A 15: 82,442,682 (GRCm39) L375Q possibly damaging Het
Etv4 A T 11: 101,674,791 (GRCm39) probably null Het
Exph5 T A 9: 53,286,343 (GRCm39) D1141E possibly damaging Het
Fbxo16 T A 14: 65,558,736 (GRCm39) H298Q probably benign Het
Fbxw21 T A 9: 108,972,887 (GRCm39) Y349F probably benign Het
Foxs1 G A 2: 152,774,721 (GRCm39) R111C probably damaging Het
Galnt15 T A 14: 31,778,273 (GRCm39) L436Q probably damaging Het
Gbf1 T C 19: 46,250,979 (GRCm39) probably benign Het
Gm8237 A T 14: 5,863,577 (GRCm38) C29* probably null Het
Hcn1 A G 13: 117,946,576 (GRCm39) D317G unknown Het
Itgam A G 7: 127,715,190 (GRCm39) N877D possibly damaging Het
Kcnma1 T C 14: 23,361,757 (GRCm39) R1047G probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lpcat2 T C 8: 93,600,879 (GRCm39) V241A probably damaging Het
Mnat1 A G 12: 73,170,682 (GRCm39) N24S probably null Het
Mprip A G 11: 59,660,857 (GRCm39) T967A probably benign Het
Mtf1 T C 4: 124,732,372 (GRCm39) F477L probably benign Het
Naaladl1 A G 19: 6,159,748 (GRCm39) E393G possibly damaging Het
Or2at1 A G 7: 99,416,540 (GRCm39) E57G possibly damaging Het
Or5e1 A G 7: 108,354,321 (GRCm39) K86R probably damaging Het
Pcdhb6 A T 18: 37,468,735 (GRCm39) D552V probably damaging Het
Pglyrp3 C T 3: 91,921,944 (GRCm39) S4F possibly damaging Het
Pramel13 A T 4: 144,121,322 (GRCm39) M234K probably damaging Het
Prss27 A T 17: 24,263,229 (GRCm39) probably benign Het
Slc5a9 A G 4: 111,753,549 (GRCm39) S51P probably damaging Het
Slc6a4 A G 11: 76,918,034 (GRCm39) Y592C probably damaging Het
Slc7a13 T A 4: 19,841,404 (GRCm39) V417D probably damaging Het
Spring1 T C 5: 118,397,160 (GRCm39) Y130H probably benign Het
Syne2 A G 12: 76,118,953 (GRCm39) T5857A probably benign Het
Thap1 A C 8: 26,650,885 (GRCm39) S52R probably damaging Het
Thsd4 T C 9: 59,907,301 (GRCm39) N158S probably damaging Het
Tmem147 A T 7: 30,427,626 (GRCm39) probably benign Het
Trdmt1 G A 2: 13,521,483 (GRCm39) A311V probably benign Het
U2surp T A 9: 95,372,273 (GRCm39) R296S probably damaging Het
Upf2 A G 2: 6,030,975 (GRCm39) D805G unknown Het
Usp34 T A 11: 23,382,630 (GRCm39) H2057Q probably damaging Het
Vmn2r110 T A 17: 20,816,400 (GRCm39) D41V probably damaging Het
Vmn2r16 T A 5: 109,487,703 (GRCm39) L192* probably null Het
Vnn3 T A 10: 23,741,816 (GRCm39) S374T probably benign Het
Wdr62 A C 7: 29,942,184 (GRCm39) D1089E probably benign Het
Xdh T A 17: 74,193,459 (GRCm39) D1279V probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp518b A G 5: 38,831,123 (GRCm39) I294T possibly damaging Het
Zfp983 G A 17: 21,876,528 (GRCm39) probably null Het
Other mutations in Or10ak7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02685:Or10ak7 APN 4 118,791,134 (GRCm39) missense possibly damaging 0.61
IGL02886:Or10ak7 APN 4 118,792,027 (GRCm39) missense probably benign
IGL02899:Or10ak7 APN 4 118,791,859 (GRCm39) missense probably damaging 1.00
IGL02957:Or10ak7 APN 4 118,791,316 (GRCm39) missense probably damaging 1.00
PIT4453001:Or10ak7 UTSW 4 118,791,823 (GRCm39) missense probably benign
R0211:Or10ak7 UTSW 4 118,791,467 (GRCm39) missense probably benign 0.00
R0211:Or10ak7 UTSW 4 118,791,467 (GRCm39) missense probably benign 0.00
R1158:Or10ak7 UTSW 4 118,791,614 (GRCm39) missense probably damaging 1.00
R1450:Or10ak7 UTSW 4 118,791,707 (GRCm39) missense probably benign 0.01
R1682:Or10ak7 UTSW 4 118,791,778 (GRCm39) missense probably damaging 1.00
R1978:Or10ak7 UTSW 4 118,791,381 (GRCm39) nonsense probably null
R2363:Or10ak7 UTSW 4 118,791,230 (GRCm39) missense probably benign 0.02
R2364:Or10ak7 UTSW 4 118,791,230 (GRCm39) missense probably benign 0.02
R2365:Or10ak7 UTSW 4 118,791,230 (GRCm39) missense probably benign 0.02
R2507:Or10ak7 UTSW 4 118,791,122 (GRCm39) missense probably benign
R2912:Or10ak7 UTSW 4 118,791,898 (GRCm39) missense probably benign 0.28
R3937:Or10ak7 UTSW 4 118,791,880 (GRCm39) missense probably damaging 1.00
R4058:Or10ak7 UTSW 4 118,791,880 (GRCm39) missense probably damaging 1.00
R4089:Or10ak7 UTSW 4 118,791,230 (GRCm39) missense probably benign 0.02
R4090:Or10ak7 UTSW 4 118,791,230 (GRCm39) missense probably benign 0.02
R4419:Or10ak7 UTSW 4 118,791,586 (GRCm39) missense possibly damaging 0.56
R4717:Or10ak7 UTSW 4 118,791,626 (GRCm39) missense probably benign 0.45
R5570:Or10ak7 UTSW 4 118,791,263 (GRCm39) missense possibly damaging 0.88
R5591:Or10ak7 UTSW 4 118,791,658 (GRCm39) missense probably damaging 1.00
R6149:Or10ak7 UTSW 4 118,791,628 (GRCm39) missense probably damaging 1.00
R7202:Or10ak7 UTSW 4 118,791,215 (GRCm39) missense probably benign
R7214:Or10ak7 UTSW 4 118,791,146 (GRCm39) missense possibly damaging 0.88
R7391:Or10ak7 UTSW 4 118,791,198 (GRCm39) missense possibly damaging 0.61
R7666:Or10ak7 UTSW 4 118,791,461 (GRCm39) missense probably damaging 1.00
R7676:Or10ak7 UTSW 4 118,791,347 (GRCm39) missense probably damaging 1.00
R8053:Or10ak7 UTSW 4 118,791,308 (GRCm39) missense probably damaging 1.00
R8311:Or10ak7 UTSW 4 118,791,347 (GRCm39) missense probably damaging 0.97
R9540:Or10ak7 UTSW 4 118,792,034 (GRCm39) missense probably benign
Z1176:Or10ak7 UTSW 4 118,791,115 (GRCm39) missense probably benign 0.19
Posted On 2015-04-16