Incidental Mutation 'IGL01551:Olfr38'
ID93253
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 #IGL01551
Quality Score
Status
Chromosome6
Chromosomal Location42756404-42763231 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42762112 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 20 (D20G)
Ref Sequence ENSEMBL: ENSMUSP00000149726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074499] [ENSMUST00000215796]
Predicted Effect probably damaging
Transcript: ENSMUST00000074499
AA Change: D20G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093654
Gene: ENSMUSG00000095236
AA Change: D20G

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: D20G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 79,088,313 S103L possibly damaging Het
Acvr2a G A 2: 48,897,059 A389T probably damaging Het
Adamts9 A G 6: 92,807,020 S1037P probably damaging Het
Adcyap1 A G 17: 93,204,018 Y140C probably damaging Het
Ampd3 A G 7: 110,804,976 N569S probably damaging Het
Bin1 G T 18: 32,377,458 V18L probably benign Het
Ccdc158 A G 5: 92,666,761 Y69H probably damaging Het
Ccdc70 A G 8: 21,973,595 R134G possibly damaging Het
Cmtm2a A G 8: 104,292,654 V101A probably damaging Het
Edar T C 10: 58,606,038 probably benign Het
Gcc2 T C 10: 58,298,869 probably benign Het
Gm10961 A G 3: 107,632,965 probably benign Het
Gm13088 T C 4: 143,656,472 N59S probably damaging Het
Hsd3b3 T C 3: 98,741,900 D369G probably benign Het
Ifi202b T A 1: 173,971,362 K373N probably benign Het
Khk C A 5: 30,924,845 H67N probably benign Het
Kif7 T A 7: 79,710,566 probably null Het
Mbd1 C T 18: 74,269,543 probably benign Het
Mtor A G 4: 148,472,037 H968R probably damaging Het
Nadk A G 4: 155,588,700 probably benign Het
Olfr1168 A T 2: 88,185,285 H136L probably benign Het
Olfr743 A G 14: 50,534,161 T250A probably benign Het
Otol1 T C 3: 70,027,724 F350L probably damaging Het
Prkcg G A 7: 3,303,826 probably benign Het
Rps6kc1 A T 1: 190,773,640 S1042T possibly damaging Het
Rtn1 C T 12: 72,216,935 V741I possibly damaging Het
Tor2a T A 2: 32,760,583 probably benign Het
Vmn1r177 T C 7: 23,866,263 I63V probably benign Het
Vmn2r58 T A 7: 41,865,279 I89F probably damaging Het
Xirp2 A G 2: 67,513,505 D2030G probably benign Het
Zfp326 T C 5: 105,888,585 S121P probably damaging Het
Other mutations in Olfr38
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02473:Olfr38 APN 6 42762706 missense probably damaging 1.00
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 On2013-12-09