Incidental Mutation 'IGL02209:Or1ak2'
ID 284621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1ak2
Ensembl Gene ENSMUSG00000070943
Gene Name olfactory receptor family 1 subfamily AK member 2
Synonyms Olfr356, GA_x6K02T2NLDC-33631647-33632594, MOR134-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02209
Quality Score
Status
Chromosome 2
Chromosomal Location 36827133-36828080 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36827517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 129 (P129S)
Ref Sequence ENSEMBL: ENSMUSP00000092631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095021]
AlphaFold Q8VFP5
Predicted Effect probably damaging
Transcript: ENSMUST00000095021
AA Change: P129S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092631
Gene: ENSMUSG00000070943
AA Change: P129S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.1e-52 PFAM
Pfam:7tm_1 41 290 4.9e-19 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 36,274,901 (GRCm39) R82Q probably damaging Het
Acmsd A G 1: 127,687,492 (GRCm39) Y258C probably damaging Het
Anapc5 A G 5: 122,938,676 (GRCm39) I366T possibly damaging Het
Crkl C T 16: 17,287,098 (GRCm39) T218I probably benign Het
Egf A T 3: 129,500,956 (GRCm39) I213K possibly damaging Het
Fry A G 5: 150,360,491 (GRCm39) T33A probably benign Het
Garnl3 T C 2: 32,975,942 (GRCm39) D93G probably damaging Het
Hook3 C T 8: 26,560,293 (GRCm39) D311N probably damaging Het
Iglv3 T C 16: 19,060,420 (GRCm39) T4A probably benign Het
Kctd17 A G 15: 78,319,792 (GRCm39) N70S probably damaging Het
Kmt2d T C 15: 98,752,448 (GRCm39) probably benign Het
Lrif1 A C 3: 106,639,045 (GRCm39) L18F probably damaging Het
Mfsd1 A G 3: 67,505,465 (GRCm39) probably benign Het
Msh4 A G 3: 153,594,499 (GRCm39) Y101H probably damaging Het
Mycbpap G A 11: 94,400,708 (GRCm39) probably benign Het
Myt1 A G 2: 181,439,027 (GRCm39) D183G probably benign Het
Nppc T C 1: 86,597,387 (GRCm39) *127W probably null Het
Or10al3 G A 17: 38,011,883 (GRCm39) M107I probably damaging Het
Or2n1e A G 17: 38,586,123 (GRCm39) I154V probably benign Het
Or51i2 T G 7: 103,689,663 (GRCm39) L220R probably damaging Het
Or8b3b T C 9: 38,584,342 (GRCm39) K146E possibly damaging Het
Pde5a A G 3: 122,618,664 (GRCm39) probably benign Het
Pkd1l3 T C 8: 110,365,296 (GRCm39) V1139A probably damaging Het
Pwwp2b G A 7: 138,835,021 (GRCm39) R154Q probably damaging Het
Satb2 C T 1: 56,910,677 (GRCm39) V264I probably damaging Het
Slc6a2 T A 8: 93,720,688 (GRCm39) F435Y probably benign Het
Stmn2 T C 3: 8,625,321 (GRCm39) probably benign Het
Synj1 A G 16: 90,784,307 (GRCm39) I277T probably damaging Het
Trio C T 15: 27,744,139 (GRCm39) A2598T probably damaging Het
Tshz2 G A 2: 169,726,684 (GRCm39) V427M probably damaging Het
Utrn A G 10: 12,559,039 (GRCm39) S1405P probably damaging Het
Vmn1r173 G A 7: 23,402,586 (GRCm39) V274I probably benign Het
Vmn2r116 T C 17: 23,607,761 (GRCm39) F443S probably damaging Het
Vps13d C A 4: 144,882,671 (GRCm39) R974L probably damaging Het
Wapl T A 14: 34,399,218 (GRCm39) S96T possibly damaging Het
Zfp516 A G 18: 83,012,622 (GRCm39) D1125G probably benign Het
Zfp692 C T 11: 58,204,824 (GRCm39) R395* probably null Het
Other mutations in Or1ak2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Or1ak2 APN 2 36,827,760 (GRCm39) missense probably damaging 0.99
IGL02933:Or1ak2 APN 2 36,827,310 (GRCm39) missense probably damaging 1.00
IGL03304:Or1ak2 APN 2 36,827,560 (GRCm39) missense probably damaging 0.99
IGL03350:Or1ak2 APN 2 36,827,595 (GRCm39) missense probably damaging 1.00
IGL03050:Or1ak2 UTSW 2 36,827,635 (GRCm39) missense probably damaging 0.99
R0124:Or1ak2 UTSW 2 36,827,268 (GRCm39) missense possibly damaging 0.80
R1447:Or1ak2 UTSW 2 36,827,788 (GRCm39) missense possibly damaging 0.54
R1591:Or1ak2 UTSW 2 36,827,990 (GRCm39) missense probably damaging 1.00
R1651:Or1ak2 UTSW 2 36,827,335 (GRCm39) missense probably damaging 0.99
R1689:Or1ak2 UTSW 2 36,827,989 (GRCm39) missense probably damaging 1.00
R1876:Or1ak2 UTSW 2 36,827,775 (GRCm39) missense possibly damaging 0.80
R2132:Or1ak2 UTSW 2 36,827,704 (GRCm39) missense probably benign 0.00
R2308:Or1ak2 UTSW 2 36,827,312 (GRCm39) nonsense probably null
R3004:Or1ak2 UTSW 2 36,827,221 (GRCm39) missense possibly damaging 0.64
R4180:Or1ak2 UTSW 2 36,827,242 (GRCm39) missense probably damaging 0.98
R4445:Or1ak2 UTSW 2 36,827,563 (GRCm39) missense probably damaging 0.99
R5096:Or1ak2 UTSW 2 36,827,815 (GRCm39) missense possibly damaging 0.64
R5971:Or1ak2 UTSW 2 36,827,241 (GRCm39) missense probably benign 0.01
R5988:Or1ak2 UTSW 2 36,827,236 (GRCm39) missense probably damaging 1.00
R6138:Or1ak2 UTSW 2 36,827,241 (GRCm39) missense probably benign 0.01
R6544:Or1ak2 UTSW 2 36,827,539 (GRCm39) missense possibly damaging 0.68
R7206:Or1ak2 UTSW 2 36,827,784 (GRCm39) missense probably damaging 1.00
R7752:Or1ak2 UTSW 2 36,827,630 (GRCm39) missense probably damaging 0.98
R7854:Or1ak2 UTSW 2 36,828,036 (GRCm39) missense probably benign
R8110:Or1ak2 UTSW 2 36,827,721 (GRCm39) missense possibly damaging 0.80
R9088:Or1ak2 UTSW 2 36,827,988 (GRCm39) missense probably damaging 1.00
R9223:Or1ak2 UTSW 2 36,827,911 (GRCm39) missense probably damaging 1.00
R9630:Or1ak2 UTSW 2 36,827,653 (GRCm39) missense probably damaging 0.99
U15987:Or1ak2 UTSW 2 36,827,241 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16