Incidental Mutation 'IGL02466:Olfr538'
ID294574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr538
Ensembl Gene ENSMUSG00000095901
Gene Nameolfactory receptor 538
SynonymsMOR253-13P, MOR253-13P, GA_x6K02T2PBJ9-42723314-42724246, MOR253-10P, Olfr1553-ps1, MOR253-12P, Olfr1523-ps1, MOR253-12P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL02466
Quality Score
Status
Chromosome7
Chromosomal Location140567886-140575793 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 140574771 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 206 (Y206C)
Ref Sequence ENSEMBL: ENSMUSP00000147315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084457] [ENSMUST00000210973]
Predicted Effect probably benign
Transcript: ENSMUST00000084457
AA Change: Y206C

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000081495
Gene: ENSMUSG00000095901
AA Change: Y206C

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 5e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 304 2.8e-6 PFAM
Pfam:7tm_1 41 290 2.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210973
AA Change: Y206C

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,216,435 probably null Het
Abca13 T C 11: 9,297,527 F2425L probably benign Het
Adgre4 A T 17: 55,814,188 Y418F probably benign Het
Adra1a G T 14: 66,637,873 C99F probably damaging Het
Aox3 C A 1: 58,158,272 H592Q probably benign Het
Cacna1f A G X: 7,629,405 probably null Het
Cacna2d2 T A 9: 107,465,554 I100N probably damaging Het
Ccr9 T A 9: 123,779,846 C198S probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col4a3 T A 1: 82,670,192 C475S unknown Het
Csnk2a2 T C 8: 95,477,231 D100G possibly damaging Het
Cstf2t G A 19: 31,083,877 G271E possibly damaging Het
Fbxw22 T C 9: 109,385,092 R219G probably damaging Het
Gif A T 19: 11,752,232 N185I probably damaging Het
Homez A G 14: 54,858,102 F50L probably damaging Het
Hspa4l C T 3: 40,753,225 Q81* probably null Het
Ifi202b T C 1: 173,972,309 D202G possibly damaging Het
Mansc1 T A 6: 134,610,851 D121V probably damaging Het
Olfr1197 T G 2: 88,729,395 D68A probably damaging Het
Olfr572 T A 7: 102,928,516 V296E possibly damaging Het
P2rx1 A T 11: 73,009,584 probably null Het
Phactr4 A G 4: 132,377,172 probably benign Het
Pus10 C T 11: 23,725,574 T482I probably damaging Het
Scyl2 G T 10: 89,653,009 Y206* probably null Het
Sell G A 1: 164,069,063 probably null Het
Slfn10-ps C T 11: 83,030,264 noncoding transcript Het
Ssh2 T C 11: 77,416,407 probably benign Het
Tas2r117 A G 6: 132,803,000 M34V probably benign Het
Vmn2r103 A T 17: 19,773,369 T3S probably benign Het
Vmn2r73 A T 7: 85,872,876 I85K probably damaging Het
Vps13b T C 15: 35,770,741 V2110A possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 G A 7: 81,023,998 G237R probably damaging Het
Zkscan7 A G 9: 122,888,885 E115G probably damaging Het
Zranb3 G A 1: 128,016,092 T306M probably benign Het
Other mutations in Olfr538
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01894:Olfr538 APN 7 140574770 missense possibly damaging 0.93
IGL02066:Olfr538 APN 7 140574500 missense possibly damaging 0.55
IGL02214:Olfr538 APN 7 140574557 nonsense probably null
IGL02534:Olfr538 APN 7 140574641 missense probably benign 0.00
R0631:Olfr538 UTSW 7 140574507 missense probably damaging 1.00
R0989:Olfr538 UTSW 7 140574287 missense probably damaging 0.99
R1470:Olfr538 UTSW 7 140574749 missense probably benign 0.02
R1470:Olfr538 UTSW 7 140574749 missense probably benign 0.02
R1533:Olfr538 UTSW 7 140575121 unclassified probably null
R1764:Olfr538 UTSW 7 140574470 missense probably damaging 0.97
R2184:Olfr538 UTSW 7 140574402 missense probably benign
R2513:Olfr538 UTSW 7 140574156 start codon destroyed probably null 0.97
R4445:Olfr538 UTSW 7 140574389 missense probably damaging 1.00
R4476:Olfr538 UTSW 7 140574929 missense probably damaging 1.00
R4607:Olfr538 UTSW 7 140574641 missense probably benign 0.02
R4608:Olfr538 UTSW 7 140574641 missense probably benign 0.02
R4752:Olfr538 UTSW 7 140574602 missense possibly damaging 0.57
R6934:Olfr538 UTSW 7 140574651 missense probably damaging 1.00
R6978:Olfr538 UTSW 7 140574287 missense probably damaging 0.99
R7559:Olfr538 UTSW 7 140574443 missense probably damaging 1.00
R7583:Olfr538 UTSW 7 140574210 missense probably benign 0.01
R7685:Olfr538 UTSW 7 140574246 missense probably damaging 1.00
Z1177:Olfr538 UTSW 7 140574956 missense probably benign 0.15
Posted On2015-04-16