Incidental Mutation 'IGL00481:Olfr463'
ID12848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr463
Ensembl Gene ENSMUSG00000093920
Gene Nameolfactory receptor 463
SynonymsGA_x6K02T2PAEV-9540823-9539888, MOR240-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.849) question?
Stock #IGL00481
Quality Score
Status
Chromosome11
Chromosomal Location87892618-87897387 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87893621 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 101 (I101T)
Ref Sequence ENSEMBL: ENSMUSP00000149255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049743] [ENSMUST00000081417] [ENSMUST00000213672] [ENSMUST00000213928] [ENSMUST00000215150] [ENSMUST00000217095]
Predicted Effect probably benign
Transcript: ENSMUST00000049743
SMART Domains Protein: ENSMUSP00000055334
Gene: ENSMUSG00000093839

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.2e-40 PFAM
Pfam:7tm_1 41 287 1.8e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000081417
AA Change: I101T

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080146
Gene: ENSMUSG00000093920
AA Change: I101T

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 6.3e-41 PFAM
Pfam:7tm_1 41 287 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213672
Predicted Effect probably benign
Transcript: ENSMUST00000213928
Predicted Effect possibly damaging
Transcript: ENSMUST00000215150
AA Change: I101T

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217095
AA Change: I101T

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A G 11: 29,824,755 L234P probably damaging Het
9230110C19Rik T C 9: 8,042,431 Y57C probably damaging Het
Abca13 T C 11: 9,290,969 L944P probably damaging Het
Akap13 A G 7: 75,723,895 S1885G probably damaging Het
Aqp3 A G 4: 41,093,632 Y261H probably damaging Het
Arap2 A T 5: 62,635,962 N1380K probably damaging Het
Arntl2 T A 6: 146,809,666 M56K probably benign Het
Barx2 T C 9: 31,846,845 I266V unknown Het
BC034090 C T 1: 155,232,521 R360H probably benign Het
Ccnb2 T C 9: 70,418,907 K52E probably damaging Het
Ccp110 G A 7: 118,729,997 V868I possibly damaging Het
Cyld G T 8: 88,707,290 V236F probably damaging Het
Dst T C 1: 34,169,329 probably benign Het
Ehmt1 G T 2: 24,838,818 A637E possibly damaging Het
Erlin1 G T 19: 44,069,319 Y22* probably null Het
Ezh1 A T 11: 101,199,302 M539K possibly damaging Het
Fam160b1 A G 19: 57,381,345 E440G probably benign Het
Fancc A T 13: 63,400,245 I80N probably damaging Het
Fat1 G A 8: 45,050,940 S4447N probably benign Het
Frem3 A G 8: 80,668,810 Q1822R possibly damaging Het
Iqgap1 C T 7: 80,759,844 V248I probably benign Het
Itch T C 2: 155,213,023 I749T probably damaging Het
Kcna10 T A 3: 107,195,514 M487K probably benign Het
Krt83 A T 15: 101,488,211 L223Q probably benign Het
Mtmr2 T C 9: 13,785,916 I84T probably benign Het
Myocd G A 11: 65,187,154 T477M probably damaging Het
Nfic A T 10: 81,408,220 V240E possibly damaging Het
Prkdc A T 16: 15,790,466 Y3044F probably benign Het
Prkg1 A G 19: 30,571,622 I636T probably benign Het
Ptpru A G 4: 131,808,235 V477A probably benign Het
Rab7b T A 1: 131,698,591 M119K possibly damaging Het
Sec61a1 T C 6: 88,506,940 probably benign Het
Sectm1b A G 11: 121,055,973 V32A probably benign Het
Shroom2 A G X: 152,623,223 S1034P probably benign Het
Sipa1l3 A T 7: 29,386,108 I688N probably damaging Het
Slc24a1 T C 9: 64,928,019 Y942C probably damaging Het
Smg1 C T 7: 118,210,794 R139K possibly damaging Het
Stt3b G A 9: 115,251,847 T574I probably benign Het
Thoc2 A G X: 41,879,891 I76T possibly damaging Het
Tpm3 C T 3: 90,087,717 T180M probably damaging Het
Uqcrfs1 C A 13: 30,540,925 V211F probably benign Het
Usp47 A G 7: 112,074,783 S418G probably benign Het
Usp5 T C 6: 124,829,353 T15A probably benign Het
Vps13c T C 9: 67,860,865 L122P probably damaging Het
Zfp677 A T 17: 21,397,668 E329V probably benign Het
Zfyve16 A T 13: 92,516,538 N846K possibly damaging Het
Zp1 G T 19: 10,918,777 P195T probably damaging Het
Other mutations in Olfr463
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Olfr463 APN 11 87893365 missense possibly damaging 0.46
R0463:Olfr463 UTSW 11 87893196 missense probably damaging 1.00
R0608:Olfr463 UTSW 11 87893196 missense probably damaging 1.00
R2984:Olfr463 UTSW 11 87893746 missense possibly damaging 0.90
R3055:Olfr463 UTSW 11 87893372 missense possibly damaging 0.95
R5276:Olfr463 UTSW 11 87893192 missense probably damaging 1.00
R5517:Olfr463 UTSW 11 87893066 missense probably damaging 1.00
R5540:Olfr463 UTSW 11 87893685 nonsense probably null
R5934:Olfr463 UTSW 11 87893223 missense possibly damaging 0.73
R6002:Olfr463 UTSW 11 87893807 missense probably damaging 0.99
R6602:Olfr463 UTSW 11 87893652 missense probably benign 0.02
Posted On2012-12-06