Incidental Mutation 'IGL02334:Olfr1012'
ID288787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1012
Ensembl Gene ENSMUSG00000075210
Gene Nameolfactory receptor 1012
SynonymsGA_x6K02T2Q125-47239120-47238185, MOR213-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.045) question?
Stock #IGL02334
Quality Score
Status
Chromosome2
Chromosomal Location85757353-85762766 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 85760159 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 72 (Y72*)
Ref Sequence ENSEMBL: ENSMUSP00000148952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099916] [ENSMUST00000214255] [ENSMUST00000214958]
Predicted Effect probably null
Transcript: ENSMUST00000099916
AA Change: Y72*
SMART Domains Protein: ENSMUSP00000097500
Gene: ENSMUSG00000075210
AA Change: Y72*

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 1.7e-47 PFAM
Pfam:7tm_1 40 289 8e-22 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000214255
AA Change: Y72*
Predicted Effect probably null
Transcript: ENSMUST00000214958
AA Change: Y72*
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
Ankrd46 A G 15: 36,485,933 V58A possibly damaging Het
Dhx16 A G 17: 35,884,057 E492G probably damaging Het
Dock1 T C 7: 135,145,565 M1535T probably damaging Het
Evpl G T 11: 116,231,024 S344* probably null Het
F2 A T 2: 91,633,094 H148Q probably benign Het
Fam83e A T 7: 45,723,921 H237L probably benign Het
Fscn3 A T 6: 28,428,154 probably null Het
Gpr162 C A 6: 124,861,160 G176C probably damaging Het
Icam5 A G 9: 21,035,209 D376G possibly damaging Het
Ift172 T C 5: 31,283,058 K295R probably benign Het
Irf3 A G 7: 44,998,710 probably benign Het
Itga2 A T 13: 114,865,309 probably null Het
Klhl11 A T 11: 100,463,836 D386E probably damaging Het
Myh4 G T 11: 67,245,547 G417V probably damaging Het
Nlrp3 A G 11: 59,565,083 T902A probably benign Het
Olfr1245 A C 2: 89,575,324 M134R possibly damaging Het
Olfr1390 A G 11: 49,341,191 I220V probably benign Het
Phf10 T C 17: 14,954,099 Y239C probably damaging Het
Pla2g4e A G 2: 120,187,236 F203S probably benign Het
Pramel1 T C 4: 143,397,526 F257S probably damaging Het
Prodh2 A G 7: 30,506,378 H213R probably damaging Het
Rgs7 C T 1: 175,189,222 D61N probably damaging Het
Rhobtb1 T A 10: 69,285,678 probably benign Het
Sct C A 7: 141,278,617 probably null Het
Slc17a9 G A 2: 180,740,743 probably null Het
Spire1 T C 18: 67,506,655 T263A probably benign Het
Trpm1 A T 7: 64,245,942 probably null Het
Trpm7 G T 2: 126,807,362 N1469K probably benign Het
Zfp750 G T 11: 121,512,011 T637K probably benign Het
Zswim5 T C 4: 116,986,644 C960R probably damaging Het
Zwint T A 10: 72,654,983 probably null Het
Other mutations in Olfr1012
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01799:Olfr1012 APN 2 85759642 missense probably benign 0.30
IGL03050:Olfr1012 UTSW 2 85759441 makesense probably null
R0399:Olfr1012 UTSW 2 85759904 missense possibly damaging 0.53
R1730:Olfr1012 UTSW 2 85760242 missense possibly damaging 0.91
R2142:Olfr1012 UTSW 2 85759677 missense probably benign 0.07
R2185:Olfr1012 UTSW 2 85760019 missense probably damaging 1.00
R2412:Olfr1012 UTSW 2 85759680 missense probably damaging 0.99
R3552:Olfr1012 UTSW 2 85759893 missense possibly damaging 0.46
R3785:Olfr1012 UTSW 2 85759453 missense probably benign 0.00
R4096:Olfr1012 UTSW 2 85759696 missense possibly damaging 0.55
R4097:Olfr1012 UTSW 2 85759696 missense possibly damaging 0.55
R5199:Olfr1012 UTSW 2 85760214 missense probably damaging 1.00
R5206:Olfr1012 UTSW 2 85759623 missense probably benign 0.31
R5444:Olfr1012 UTSW 2 85759919 missense probably benign 0.39
R5567:Olfr1012 UTSW 2 85759650 missense probably damaging 1.00
R5570:Olfr1012 UTSW 2 85759650 missense probably damaging 1.00
R5956:Olfr1012 UTSW 2 85753839 unclassified probably benign
R6406:Olfr1012 UTSW 2 85760307 missense possibly damaging 0.94
Posted On2015-04-16