Incidental Mutation 'IGL00920:Olfr1009'
ID26875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1009
Ensembl Gene ENSMUSG00000043226
Gene Nameolfactory receptor 1009
SynonymsMOR175-3, GA_x6K02T2Q125-47195323-47196267
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL00920
Quality Score
Status
Chromosome2
Chromosomal Location85715419-85725136 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85722239 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 278 (Y278F)
Ref Sequence ENSEMBL: ENSMUSP00000150450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055517] [ENSMUST00000216443]
Predicted Effect probably damaging
Transcript: ENSMUST00000055517
AA Change: Y278F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061475
Gene: ENSMUSG00000043226
AA Change: Y278F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.4e-55 PFAM
Pfam:7tm_1 41 290 4.3e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213600
Predicted Effect probably damaging
Transcript: ENSMUST00000216443
AA Change: Y278F

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd209e T C 8: 3,849,187 D175G probably damaging Het
Cep78 T C 19: 15,981,486 I165V probably benign Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Dpp9 T C 17: 56,200,599 T357A probably benign Het
Gm42416 T A 18: 36,952,767 M1K probably null Het
Gm428 T A 4: 73,687,442 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh5 A T 12: 74,976,493 D600E probably damaging Het
Ndst4 A G 3: 125,438,211 D143G probably damaging Het
Nrros A G 16: 32,147,620 F14S probably benign Het
Olfr971 T C 9: 39,839,934 F167L probably benign Het
Pcdh7 A T 5: 57,720,131 I343F probably damaging Het
Piwil4 C T 9: 14,727,437 R264H probably damaging Het
Pnpt1 A G 11: 29,157,087 probably benign Het
Pycr2 T A 1: 180,906,393 probably benign Het
Rfx7 T A 9: 72,593,356 Y133N probably damaging Het
Slc17a3 A G 13: 23,856,481 I263V probably benign Het
Spink5 A T 18: 44,003,209 E562D probably damaging Het
Spty2d1 T C 7: 46,998,987 R65G probably damaging Het
Thbs1 C T 2: 118,113,201 T100I probably damaging Het
Triml1 T C 8: 43,138,682 N213S probably damaging Het
Trp53bp2 T C 1: 182,444,654 probably benign Het
Vmn2r9 T C 5: 108,848,024 I253V possibly damaging Het
Zan C T 5: 137,464,524 V798I unknown Het
Zfp608 C T 18: 54,889,831 M1504I probably benign Het
Other mutations in Olfr1009
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Olfr1009 APN 2 85722128 missense probably damaging 0.99
IGL02868:Olfr1009 APN 2 85721575 missense probably benign 0.19
IGL02904:Olfr1009 APN 2 85721755 missense probably damaging 0.99
IGL03240:Olfr1009 APN 2 85722331 nonsense probably null
IGL03347:Olfr1009 APN 2 85721807 missense probably benign 0.01
R1148:Olfr1009 UTSW 2 85722276 nonsense probably null
R1148:Olfr1009 UTSW 2 85722276 nonsense probably null
R1446:Olfr1009 UTSW 2 85721573 missense probably damaging 0.99
R3782:Olfr1009 UTSW 2 85721696 missense probably damaging 1.00
R4343:Olfr1009 UTSW 2 85722248 missense probably damaging 1.00
R4836:Olfr1009 UTSW 2 85721449 missense probably benign
R4845:Olfr1009 UTSW 2 85721492 nonsense probably null
R5490:Olfr1009 UTSW 2 85722322 missense probably benign 0.01
R5534:Olfr1009 UTSW 2 85721987 missense probably benign 0.35
R5679:Olfr1009 UTSW 2 85722046 missense probably damaging 1.00
R6476:Olfr1009 UTSW 2 85721584 missense probably damaging 1.00
R6701:Olfr1009 UTSW 2 85722331 missense probably benign 0.28
R7024:Olfr1009 UTSW 2 85721608 missense probably damaging 1.00
R7140:Olfr1009 UTSW 2 85721474 missense probably damaging 0.97
R7174:Olfr1009 UTSW 2 85721953 missense possibly damaging 0.81
X0020:Olfr1009 UTSW 2 85721978 missense probably damaging 1.00
Posted On2013-04-17