Incidental Mutation 'IGL00309:Olfr1513'
ID12845
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: 0.137) question?
Stock #IGL00309
Quality Score
Status
Chromosome14
Chromosomal Location52347495-52356408 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52349710 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 112 (V112A)
Ref Sequence ENSEMBL: ENSMUSP00000149216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089739] [ENSMUST00000215147]
Predicted Effect probably benign
Transcript: ENSMUST00000089739
AA Change: V112A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000087171
Gene: ENSMUSG00000095030
AA Change: V112A

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 5.2e-49 PFAM
Pfam:7tm_1 41 291 1.6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215147
AA Change: V112A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
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
4933430I17Rik T C 4: 62,532,666 probably benign Het
Abca9 T A 11: 110,160,516 D118V probably benign Het
Adgrb2 T A 4: 130,018,805 I1241N probably damaging Het
Arsb A G 13: 93,790,100 D126G probably benign Het
BB014433 G T 8: 15,042,510 N114K probably benign Het
Ccne2 T A 4: 11,199,322 V241E probably benign Het
Ccnjl A T 11: 43,583,196 K199N probably benign Het
Cyp2c55 A G 19: 39,011,746 T130A probably benign Het
Cyp2c70 A T 19: 40,156,826 N395K probably benign Het
Dst T C 1: 34,160,652 V67A probably damaging Het
Dysf G A 6: 84,108,099 R806H probably damaging Het
Extl3 G A 14: 65,076,989 P248L probably benign Het
Fcgbp A G 7: 28,085,130 D205G probably damaging Het
Gga1 G T 15: 78,883,355 V98L possibly damaging Het
Gpr6 C T 10: 41,070,816 A257T probably damaging Het
Mex3c C T 18: 73,589,889 T351M probably damaging Het
Olfr1019 A T 2: 85,841,362 V143D probably benign Het
Olfr154 A T 2: 85,664,356 V26D probably benign Het
Olfr961 T A 9: 39,647,340 S205T probably benign Het
Prex1 A G 2: 166,609,823 Y412H probably damaging Het
Slc25a25 A T 2: 32,419,160 V75E probably benign Het
Sv2c A G 13: 96,048,429 C247R probably damaging Het
Trpm5 A T 7: 143,082,991 V403E probably benign Het
Wdr17 A G 8: 54,687,711 V202A probably damaging Het
Zscan25 A G 5: 145,283,749 E118G probably damaging Het
Other mutations in Olfr1513
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02485:Olfr1513 APN 14 52350044 start codon destroyed possibly damaging 0.89
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
Posted On2012-12-06