Incidental Mutation 'IGL02473:Olfr38'
ID294801
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr38
Ensembl Gene ENSMUSG00000095236
Gene Nameolfactory receptor 38
SynonymsMOR257-2, 18A, GA_x6K02T2P3E9-4797841-4796888
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL02473
Quality Score
Status
Chromosome6
Chromosomal Location42756404-42763231 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42762706 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 218 (Y218C)
Ref Sequence ENSEMBL: ENSMUSP00000149726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074499] [ENSMUST00000215796]
Predicted Effect probably damaging
Transcript: ENSMUST00000074499
AA Change: Y218C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093654
Gene: ENSMUSG00000095236
AA Change: Y218C

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.8e-52 PFAM
Pfam:7tm_1 41 290 5.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215796
AA Change: Y218C

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik G A 5: 48,388,098 probably benign Het
9030624G23Rik A G 12: 24,044,852 F106S probably benign Het
A930011G23Rik T C 5: 99,222,995 Y468C probably damaging Het
Abcd3 T C 3: 121,769,244 T515A possibly damaging Het
Acrbp A G 6: 125,054,698 T321A probably benign Het
Aldh2 T C 5: 121,572,078 Y398C probably damaging Het
Baz2b T A 2: 59,960,063 D602V probably benign Het
Ccdc105 A T 10: 78,750,594 S208T probably benign Het
Ccdc191 T C 16: 43,956,894 V714A probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntn2 A G 1: 132,518,331 L839P probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a16 T C 5: 145,440,494 I428V possibly damaging Het
Dnah7b A T 1: 46,234,193 T2494S probably damaging Het
Dnaja3 T A 16: 4,701,240 Y348* probably null Het
Dnajb3 C A 1: 88,205,382 E99D probably benign Het
Igf2bp3 A G 6: 49,094,229 F411L probably benign Het
L3mbtl4 A T 17: 68,559,777 Y337F possibly damaging Het
Lias A G 5: 65,405,402 T258A possibly damaging Het
Lipk T A 19: 34,039,148 C254S probably damaging Het
Map4k1 T C 7: 28,999,872 L596S probably damaging Het
Mdga2 T C 12: 66,550,611 E703G possibly damaging Het
Mreg A G 1: 72,162,336 Y166H probably damaging Het
Olfr1272 T C 2: 90,281,696 K293R probably null Het
Pcgf2 A G 11: 97,691,921 probably benign Het
Prdm15 T C 16: 97,837,605 probably null Het
Rnf111 A G 9: 70,440,858 V810A probably damaging Het
Rpl23a-ps1 A T 1: 45,981,791 noncoding transcript Het
Smc3 C A 19: 53,636,448 A779E probably benign Het
Smtn C T 11: 3,532,463 G140D probably damaging Het
Son T C 16: 91,658,795 S1477P probably damaging Het
Strn T C 17: 78,684,293 D20G possibly damaging Het
Tnxb T C 17: 34,717,762 L2798P probably damaging Het
Ttn A C 2: 76,945,552 N1715K probably damaging Het
Vps33a A T 5: 123,569,571 I111N probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan4d A T 7: 11,162,409 C345S probably benign Het
Other mutations in Olfr38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Olfr38 APN 6 42762112 missense probably damaging 0.99
IGL01567:Olfr38 APN 6 42762727 missense probably benign 0.07
IGL02097:Olfr38 APN 6 42762460 missense probably damaging 0.98
IGL02186:Olfr38 APN 6 42762946 missense probably null 0.96
R0541:Olfr38 UTSW 6 42762220 missense probably damaging 1.00
R1210:Olfr38 UTSW 6 42762667 missense possibly damaging 0.79
R1368:Olfr38 UTSW 6 42762679 missense possibly damaging 0.91
R2383:Olfr38 UTSW 6 42762459 missense probably benign 0.44
R4614:Olfr38 UTSW 6 42762418 missense probably benign 0.07
R4616:Olfr38 UTSW 6 42762418 missense probably benign 0.07
R4844:Olfr38 UTSW 6 42762460 missense probably damaging 0.98
R5121:Olfr38 UTSW 6 42762997 nonsense probably null
R5951:Olfr38 UTSW 6 42762559 missense probably damaging 1.00
R6061:Olfr38 UTSW 6 42762965 missense probably damaging 0.99
R6336:Olfr38 UTSW 6 42762657 missense probably damaging 1.00
R7414:Olfr38 UTSW 6 42762828 missense probably damaging 1.00
X0018:Olfr38 UTSW 6 42762935 missense probably damaging 0.99
Z1177:Olfr38 UTSW 6 42762207 missense probably damaging 1.00
Posted On2015-04-16