Incidental Mutation 'IGL02205:Olfr469'
ID284423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr469
Ensembl Gene ENSMUSG00000095910
Gene Nameolfactory receptor 469
SynonymsMOR204-21, GA_x6K02T2PBJ9-10152980-10152036
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL02205
Quality Score
Status
Chromosome7
Chromosomal Location107820566-107825541 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107822591 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 293 (Y293H)
Ref Sequence ENSEMBL: ENSMUSP00000150486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075704] [ENSMUST00000213252]
Predicted Effect probably damaging
Transcript: ENSMUST00000075704
AA Change: Y293H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075122
Gene: ENSMUSG00000095910
AA Change: Y293H

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1.3e-53 PFAM
Pfam:7tm_1 44 293 2.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213252
AA Change: Y293H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216431
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T G 11: 117,835,156 L150R probably damaging Het
Ankrd27 T G 7: 35,616,939 D543E probably damaging Het
Anks1b T G 10: 90,071,094 L258V probably benign Het
Cacna1i T C 15: 80,372,951 F1087S probably benign Het
Chd2 A T 7: 73,441,717 I1592K probably benign Het
Cmip G A 8: 117,454,975 V674I probably damaging Het
Col4a2 C T 8: 11,431,305 Q826* probably null Het
Ctdsp1 C T 1: 74,393,834 A92V possibly damaging Het
Dnajc10 T A 2: 80,349,358 S745R possibly damaging Het
Dpp4 T C 2: 62,352,257 Y560C probably damaging Het
Fbxl6 A G 15: 76,537,341 M232T probably benign Het
Gm5414 A G 15: 101,625,869 F267L probably benign Het
Heatr5a A G 12: 51,877,337 I2031T probably damaging Het
Hmcn2 T G 2: 31,400,127 V2324G probably damaging Het
Hnmt A T 2: 24,019,145 N85K probably damaging Het
Kcng4 G T 8: 119,626,083 R363S probably damaging Het
Kif18a T C 2: 109,307,018 probably benign Het
Lrrc8b A T 5: 105,481,837 Y683F probably benign Het
Mepce G T 5: 137,784,495 T523K probably benign Het
Mroh1 T C 15: 76,437,239 V1040A possibly damaging Het
Myof A G 19: 37,924,635 Y1470H probably damaging Het
Otol1 T C 3: 70,018,596 S35P probably benign Het
P4htm T C 9: 108,581,962 D257G probably benign Het
Pcdhb15 A G 18: 37,473,957 T81A probably damaging Het
Polg2 T C 11: 106,779,120 E108G probably benign Het
Rfx7 T A 9: 72,607,650 H143Q probably damaging Het
Sf3b2 A G 19: 5,283,737 V611A probably benign Het
Slc10a7 G T 8: 78,697,303 K203N probably benign Het
Slc12a5 T A 2: 164,996,479 V1046D probably benign Het
Tacc2 A T 7: 130,626,682 D1718V probably damaging Het
Unc79 T A 12: 103,079,001 I812N probably damaging Het
Vps13c A G 9: 67,883,454 Y338C probably damaging Het
Wdr17 T C 8: 54,696,300 Y31C probably damaging Het
Zfp654 A T 16: 64,785,966 N624K probably damaging Het
Other mutations in Olfr469
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02252:Olfr469 APN 7 107823146 missense probably benign 0.04
R0365:Olfr469 UTSW 7 107822917 nonsense probably null
R0647:Olfr469 UTSW 7 107823011 missense probably benign 0.02
R0863:Olfr469 UTSW 7 107823374 missense probably benign
R1830:Olfr469 UTSW 7 107823371 missense probably benign 0.02
R2189:Olfr469 UTSW 7 107822615 missense probably benign 0.09
R2316:Olfr469 UTSW 7 107822800 missense probably benign 0.25
R6187:Olfr469 UTSW 7 107822574 missense probably benign
R6305:Olfr469 UTSW 7 107822657 missense probably benign 0.01
R6774:Olfr469 UTSW 7 107823188 missense probably benign 0.06
R7019:Olfr469 UTSW 7 107823158 missense probably benign 0.04
R7205:Olfr469 UTSW 7 107822575 missense probably benign 0.01
R7466:Olfr469 UTSW 7 107822922 nonsense probably null
R8128:Olfr469 UTSW 7 107823425 missense probably damaging 1.00
R8251:Olfr469 UTSW 7 107822569 missense probably damaging 0.98
R8252:Olfr469 UTSW 7 107822569 missense probably damaging 0.98
R8253:Olfr469 UTSW 7 107822569 missense probably damaging 0.98
Z1176:Olfr469 UTSW 7 107822993 missense probably benign 0.01
Posted On2015-04-16