Incidental Mutation 'IGL02596:Olfr1463'
ID299846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1463
Ensembl Gene ENSMUSG00000096365
Gene Nameolfactory receptor 1463
SynonymsMOR202-29P, GA_x6K02T2RE5P-3560863-3561795
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02596
Quality Score
Status
Chromosome19
Chromosomal Location13231328-13236400 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13234399 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 50 (I50F)
Ref Sequence ENSEMBL: ENSMUSP00000146566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064102] [ENSMUST00000207246]
Predicted Effect probably damaging
Transcript: ENSMUST00000064102
AA Change: I50F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070872
Gene: ENSMUSG00000096365
AA Change: I50F

DomainStartEndE-ValueType
Pfam:7tm_4 32 310 1e-51 PFAM
Pfam:7TM_GPCR_Srsx 36 306 3.2e-6 PFAM
Pfam:7tm_1 42 291 1.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207246
AA Change: I50F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T G 4: 73,950,667 Q11H possibly damaging Het
4931408C20Rik T A 1: 26,684,002 H699L probably benign Het
Armcx5 T A X: 135,746,519 I448K probably damaging Het
Atp4b T A 8: 13,393,471 Y69F possibly damaging Het
Ccdc7b T A 8: 129,072,478 V12E probably benign Het
Cdc5l C A 17: 45,424,604 probably benign Het
Clptm1l C T 13: 73,613,666 R330C probably benign Het
Cpq C T 15: 33,213,014 R60W probably damaging Het
Cpvl T C 6: 53,932,010 Y256C probably damaging Het
Cryzl2 A T 1: 157,464,969 D107V probably damaging Het
Cyp2e1 G A 7: 140,770,118 V239M probably damaging Het
Cyp2j7 T A 4: 96,215,422 D292V possibly damaging Het
Dcaf1 A G 9: 106,863,021 Y1202C probably damaging Het
Dnah3 T C 7: 119,938,914 N3616S probably benign Het
Enam A G 5: 88,503,026 D723G probably benign Het
Eps8l1 G A 7: 4,470,872 R226H probably damaging Het
Erich2 A G 2: 70,512,803 probably benign Het
Esyt3 A C 9: 99,328,015 L271V probably benign Het
Fer1l4 T C 2: 156,039,132 N838S probably benign Het
Gad1 T C 2: 70,594,684 Y441H probably damaging Het
Gja1 G T 10: 56,388,252 V236F possibly damaging Het
Gpr156 T C 16: 37,978,724 I100T probably benign Het
Hace1 A G 10: 45,700,640 T803A possibly damaging Het
Jagn1 G A 6: 113,447,601 V145I probably benign Het
Kdm4b C A 17: 56,399,706 T899K probably benign Het
Klk1b8 G A 7: 43,952,763 V40M probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mast1 G T 8: 84,917,771 A843E probably benign Het
Mbd1 T A 18: 74,276,797 probably benign Het
Mdga1 A G 17: 29,832,405 probably benign Het
Mlh3 A G 12: 85,240,958 probably null Het
Olfr1115 C A 2: 87,252,129 T64K probably damaging Het
Pwp1 A G 10: 85,872,018 probably null Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc12a7 T A 13: 73,785,123 V100E probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tgfb1i1 T A 7: 128,248,896 M1K probably null Het
Tubgcp6 T A 15: 89,100,914 E1657V probably damaging Het
Zfp770 A G 2: 114,195,827 V587A probably benign Het
Zxdc A G 6: 90,373,709 probably null Het
Other mutations in Olfr1463
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Olfr1463 APN 19 13234739 missense probably benign 0.01
IGL03030:Olfr1463 APN 19 13235054 missense probably damaging 0.98
IGL03232:Olfr1463 APN 19 13234977 nonsense probably null
IGL03380:Olfr1463 APN 19 13235001 missense probably benign 0.00
PIT4382001:Olfr1463 UTSW 19 13234895 missense probably damaging 1.00
PIT4519001:Olfr1463 UTSW 19 13234852 missense probably benign 0.00
R0652:Olfr1463 UTSW 19 13234535 missense possibly damaging 0.80
R0658:Olfr1463 UTSW 19 13235060 missense possibly damaging 0.94
R1181:Olfr1463 UTSW 19 13234831 missense probably benign 0.07
R1239:Olfr1463 UTSW 19 13234676 missense possibly damaging 0.80
R1316:Olfr1463 UTSW 19 13234439 missense probably damaging 1.00
R1465:Olfr1463 UTSW 19 13234901 missense possibly damaging 0.61
R1465:Olfr1463 UTSW 19 13234901 missense possibly damaging 0.61
R1900:Olfr1463 UTSW 19 13234913 missense possibly damaging 0.54
R1927:Olfr1463 UTSW 19 13235029 missense probably damaging 1.00
R2239:Olfr1463 UTSW 19 13234721 missense probably benign 0.00
R2380:Olfr1463 UTSW 19 13234721 missense probably benign 0.00
R3760:Olfr1463 UTSW 19 13234886 missense probably damaging 1.00
R3765:Olfr1463 UTSW 19 13234431 missense probably damaging 1.00
R3835:Olfr1463 UTSW 19 13234739 missense probably benign 0.18
R4690:Olfr1463 UTSW 19 13234768 missense possibly damaging 0.91
R4907:Olfr1463 UTSW 19 13234793 missense probably damaging 1.00
R5444:Olfr1463 UTSW 19 13234958 missense probably benign 0.28
R5465:Olfr1463 UTSW 19 13234688 missense probably benign 0.00
R6083:Olfr1463 UTSW 19 13234525 missense probably benign 0.01
R6259:Olfr1463 UTSW 19 13234421 missense probably damaging 0.98
R6324:Olfr1463 UTSW 19 13235104 missense possibly damaging 0.95
R6561:Olfr1463 UTSW 19 13235030 missense probably damaging 1.00
R6845:Olfr1463 UTSW 19 13234633 missense probably damaging 1.00
R7260:Olfr1463 UTSW 19 13235024 missense probably damaging 0.98
X0063:Olfr1463 UTSW 19 13234635 missense probably damaging 1.00
X0067:Olfr1463 UTSW 19 13234697 missense possibly damaging 0.95
Posted On2015-04-16