Incidental Mutation 'IGL02485:Olfr1513'
ID295396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1513
Ensembl Gene ENSMUSG00000095030
Gene Nameolfactory receptor 1513
SynonymsMOR223-10, GA_x6K02T2RJGY-644134-645075, MOR223-7P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL02485
Quality Score
Status
Chromosome14
Chromosomal Location52347495-52356408 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 52350044 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000149216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089739] [ENSMUST00000215147]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089739
AA Change: M1L

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087171
Gene: ENSMUSG00000095030
AA Change: M1L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 5.2e-49 PFAM
Pfam:7tm_1 41 291 1.6e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215147
AA Change: M1L

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
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
4930430A15Rik A T 2: 111,228,325 V94E probably damaging Het
Agl A G 3: 116,779,080 S841P probably benign Het
BC003331 A G 1: 150,363,489 probably null Het
Cd59b A C 2: 104,081,104 probably benign Het
Dopey2 T C 16: 93,770,822 L1379P probably damaging Het
Ercc2 G A 7: 19,394,045 A433T possibly damaging Het
Gm17175 T C 14: 51,569,611 probably benign Het
Gm5150 A T 3: 15,990,752 I103N probably damaging Het
Igf1 A G 10: 87,864,746 M11V probably benign Het
Incenp T C 19: 9,893,368 N299S unknown Het
Maneal A T 4: 124,856,770 S398T probably damaging Het
Map1a A G 2: 121,299,288 N195S probably damaging Het
Mars2 T C 1: 55,237,591 F118L possibly damaging Het
Mast4 A G 13: 102,735,496 S2263P probably benign Het
Mrgprb1 C A 7: 48,447,717 R149L possibly damaging Het
Myo1d T C 11: 80,666,581 D511G probably damaging Het
Ntan1 T C 16: 13,834,676 probably benign Het
Nxf2 A G X: 134,956,467 F158L probably damaging Het
Trpm1 C T 7: 64,269,114 A734V possibly damaging Het
Upf2 G A 2: 6,027,291 E883K unknown Het
Ush1c T C 7: 46,229,250 I83V probably damaging Het
Vmn2r60 C A 7: 42,195,466 T751N possibly damaging Het
Zfp146 A G 7: 30,162,590 I9T probably benign Het
Zfp592 G A 7: 81,037,970 probably benign Het
Zswim8 C T 14: 20,711,887 L243F probably damaging Het
Other mutations in Olfr1513
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Olfr1513 APN 14 52349710 missense probably benign 0.00
IGL02828:Olfr1513 APN 14 52349342 missense probably benign 0.02
R0744:Olfr1513 UTSW 14 52349378 missense probably benign 0.00
R0833:Olfr1513 UTSW 14 52349378 missense probably benign 0.00
R2316:Olfr1513 UTSW 14 52349938 missense probably benign 0.00
R4898:Olfr1513 UTSW 14 52349542 missense probably damaging 1.00
R5018:Olfr1513 UTSW 14 52349279 missense possibly damaging 0.81
R5134:Olfr1513 UTSW 14 52349791 missense probably benign 0.03
R5485:Olfr1513 UTSW 14 52349319 nonsense probably null
R6819:Olfr1513 UTSW 14 52349699 missense probably damaging 1.00
R6877:Olfr1513 UTSW 14 52349813 missense possibly damaging 0.95
R7583:Olfr1513 UTSW 14 52349903 missense possibly damaging 0.93
R7606:Olfr1513 UTSW 14 52349963 missense probably benign 0.33
R7653:Olfr1513 UTSW 14 52349432 nonsense probably null
R8111:Olfr1513 UTSW 14 52349887 missense possibly damaging 0.70
R8262:Olfr1513 UTSW 14 52349168 missense probably damaging 1.00
R8487:Olfr1513 UTSW 14 52349239 missense probably damaging 1.00
R8786:Olfr1513 UTSW 14 52349564 missense possibly damaging 0.74
Posted On2015-04-16