Incidental Mutation 'IGL01999:Olfr1462'
ID182143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1462
Ensembl Gene ENSMUSG00000094721
Gene Nameolfactory receptor 1462
SynonymsGA_x6K02T2RE5P-3517488-3518411, MOR202-13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01999
Quality Score
Status
Chromosome19
Chromosomal Location13185734-13193775 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 13191560 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 298 (A298T)
Ref Sequence ENSEMBL: ENSMUSP00000147174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076832] [ENSMUST00000208533]
Predicted Effect probably damaging
Transcript: ENSMUST00000076832
AA Change: A298T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076107
Gene: ENSMUSG00000094721
AA Change: A298T

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.3e-51 PFAM
Pfam:7tm_1 39 288 6e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208533
AA Change: A298T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
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
1700028P14Rik C A 19: 23,592,165 L130F possibly damaging Het
Cabs1 C T 5: 87,979,928 T146I possibly damaging Het
Cfap161 C T 7: 83,791,691 V118M probably damaging Het
Chrna7 T C 7: 63,103,791 M327V probably damaging Het
Ddx18 A G 1: 121,561,728 I228T probably benign Het
Dnhd1 T A 7: 105,721,215 S4616T possibly damaging Het
Dsp T A 13: 38,181,186 M515K probably damaging Het
Dysf C T 6: 84,113,618 P1002L probably damaging Het
Exoc7 T C 11: 116,301,100 probably null Het
Gria2 G A 3: 80,732,091 R205W probably damaging Het
Hacd2 T C 16: 35,048,713 probably benign Het
Helz G T 11: 107,602,928 probably benign Het
Hgfac A G 5: 35,044,811 N352S probably benign Het
Mfsd11 T A 11: 116,861,585 F135I probably damaging Het
Mtmr10 A G 7: 64,337,712 N667D probably benign Het
Mtmr9 A C 14: 63,542,454 F62C probably damaging Het
Nelfcd T C 2: 174,423,515 probably benign Het
Nfasc A G 1: 132,605,247 probably benign Het
Npnt C T 3: 132,908,399 R150Q probably damaging Het
Olfr476 C T 7: 107,967,468 R24C probably benign Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pcdhb2 C T 18: 37,296,837 A621V probably damaging Het
Pkd1l1 C A 11: 8,836,291 W1921L probably benign Het
Plcb1 G A 2: 135,346,318 R777Q probably damaging Het
Plch1 G A 3: 63,753,307 P297L probably damaging Het
Ppp2r2b T C 18: 42,645,723 probably benign Het
Ppp6r2 A G 15: 89,269,952 D372G probably benign Het
Rtn4r A G 16: 18,151,457 R250G possibly damaging Het
Sec61a2 A G 2: 5,891,363 probably benign Het
Sema3g G T 14: 31,217,965 V19L probably benign Het
Sult2a7 T C 7: 14,491,723 T113A probably benign Het
Tcp11l1 T C 2: 104,698,569 D128G possibly damaging Het
Tln2 C T 9: 67,392,505 R155Q possibly damaging Het
Vcan A G 13: 89,684,438 L2150P probably damaging Het
Vmn1r40 A C 6: 89,714,966 N255T probably benign Het
Vmn2r68 T C 7: 85,222,231 N615D probably damaging Het
Zdhhc25 A G 15: 88,601,014 E184G probably damaging Het
Other mutations in Olfr1462
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Olfr1462 APN 19 13191234 missense possibly damaging 0.60
IGL02326:Olfr1462 APN 19 13191415 nonsense probably null
IGL03381:Olfr1462 APN 19 13191405 missense probably damaging 0.98
R1184:Olfr1462 UTSW 19 13191375 missense probably damaging 0.99
R1434:Olfr1462 UTSW 19 13191298 missense probably benign 0.19
R2161:Olfr1462 UTSW 19 13191309 missense probably damaging 0.99
R2399:Olfr1462 UTSW 19 13191345 missense probably benign 0.02
R4583:Olfr1462 UTSW 19 13190698 missense probably damaging 1.00
R5937:Olfr1462 UTSW 19 13191311 missense probably damaging 1.00
Posted On2014-05-07