Incidental Mutation 'IGL01799:Olfr1012'
ID155436
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 #IGL01799
Quality Score
Status
Chromosome2
Chromosomal Location85757353-85762766 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85759642 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 245 (I245F)
Ref Sequence ENSEMBL: ENSMUSP00000148952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099916] [ENSMUST00000214255] [ENSMUST00000214958]
Predicted Effect probably benign
Transcript: ENSMUST00000099916
AA Change: I245F

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097500
Gene: ENSMUSG00000075210
AA Change: I245F

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 1.7e-47 PFAM
Pfam:7tm_1 40 289 8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214255
AA Change: I245F

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000214958
AA Change: I245F

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
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
Akr1c20 T A 13: 4,514,258 probably null Het
Anp32a A G 9: 62,371,810 T35A probably benign Het
Dennd1a A G 2: 38,048,742 Y119H probably damaging Het
Evc T C 5: 37,324,914 I32V possibly damaging Het
Fbll1 A C 11: 35,798,109 V109G possibly damaging Het
Gli3 T C 13: 15,726,161 S1378P probably benign Het
Gm7257 T C 9: 36,432,883 L54P possibly damaging Het
Hcfc2 G A 10: 82,700,991 C79Y probably damaging Het
Hdac5 A T 11: 102,200,085 I741N possibly damaging Het
Heatr5a T C 12: 51,897,835 D1289G probably benign Het
Hyal5 T A 6: 24,891,337 N383K probably benign Het
Itsn1 T C 16: 91,848,882 L59P probably damaging Het
Lrrc8b T A 5: 105,485,891 L743Q probably benign Het
Minos1 G T 4: 139,103,997 probably benign Het
Mks1 A T 11: 87,856,863 I191F probably benign Het
Mrc1 T A 2: 14,238,376 N104K probably damaging Het
Ms4a6d A T 19: 11,590,135 I26N probably damaging Het
Mup17 T C 4: 61,593,711 T109A probably benign Het
Mylk4 T G 13: 32,781,691 E9A probably benign Het
Myo7b C T 18: 31,962,770 V1812M probably damaging Het
Nbas T C 12: 13,324,400 probably benign Het
Ncoa2 T C 1: 13,152,375 probably benign Het
Nlrp4f T C 13: 65,187,462 H771R probably benign Het
Opa1 T C 16: 29,616,658 V642A possibly damaging Het
Pi4ka C A 16: 17,389,371 L23F probably damaging Het
Rerg T A 6: 137,056,378 K100* probably null Het
Sema6c T C 3: 95,170,831 V506A probably damaging Het
Slc15a1 T G 14: 121,480,729 N246T possibly damaging Het
Sorcs1 A G 19: 50,230,209 probably null Het
Vmn2r118 A G 17: 55,592,990 L638P probably damaging Het
Vmn2r80 G A 10: 79,171,551 G454S possibly damaging Het
Other mutations in Olfr1012
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02334:Olfr1012 APN 2 85760159 nonsense probably null
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 On2014-02-04