Incidental Mutation 'IGL02687:Olfr995'
ID303596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr995
Ensembl Gene ENSMUSG00000075218
Gene Nameolfactory receptor 995
SynonymsGA_x6K02T2Q125-46915844-46914897, MOR203-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02687
Quality Score
Status
Chromosome2
Chromosomal Location85437528-85443639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85438586 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 191 (N191Y)
Ref Sequence ENSEMBL: ENSMUSP00000149952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099924] [ENSMUST00000214679] [ENSMUST00000216933] [ENSMUST00000217218]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099924
AA Change: N191Y

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097508
Gene: ENSMUSG00000075218
AA Change: N191Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.1e-50 PFAM
Pfam:7tm_1 41 290 2.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215758
Predicted Effect possibly damaging
Transcript: ENSMUST00000216933
AA Change: N191Y

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000217218
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,114,232 V1315A probably damaging Het
Adam2 A T 14: 66,069,190 C117S probably damaging Het
Arpp21 T A 9: 112,065,815 R792* probably null Het
Atp13a3 A G 16: 30,337,551 M938T probably damaging Het
Atp6v0a2 C T 5: 124,714,142 T545M possibly damaging Het
BC051019 T C 7: 109,716,352 D84G possibly damaging Het
Bdkrb1 T A 12: 105,604,832 L219H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap46 T C 7: 139,607,201 D2415G probably damaging Het
Csgalnact2 T C 6: 118,124,415 probably null Het
Cyp4a29 T C 4: 115,251,200 C374R probably damaging Het
Dgkb C A 12: 38,630,629 P776Q possibly damaging Het
Duox1 A T 2: 122,336,415 K1005M probably damaging Het
Dusp6 C A 10: 99,266,182 F343L probably damaging Het
Espl1 C T 15: 102,313,178 probably benign Het
Filip1l T C 16: 57,571,127 S455P probably benign Het
Gm7995 A G 14: 42,311,405 I81V probably damaging Het
Lingo4 T C 3: 94,402,097 L114P probably damaging Het
Mfsd6 A G 1: 52,708,675 S344P probably damaging Het
Mpc1 G A 17: 8,297,143 S162N probably benign Het
Myh11 T A 16: 14,212,618 K1143* probably null Het
Nek10 T C 14: 14,840,570 L152P probably damaging Het
Olfr598 C T 7: 103,329,400 R305* probably null Het
Olfr815 T C 10: 129,902,102 M203V probably benign Het
Rab11a A G 9: 64,726,698 I119T probably damaging Het
Spata31d1d T A 13: 59,727,864 H619L possibly damaging Het
Ulk4 A T 9: 121,192,662 V661E possibly damaging Het
Vmn1r199 T C 13: 22,382,791 V85A possibly damaging Het
Other mutations in Olfr995
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02102:Olfr995 APN 2 85438267 missense probably damaging 1.00
IGL02540:Olfr995 APN 2 85438915 missense probably benign 0.05
IGL02713:Olfr995 APN 2 85438637 missense probably damaging 0.99
R0318:Olfr995 UTSW 2 85438237 missense possibly damaging 0.91
R0463:Olfr995 UTSW 2 85438286 missense probably damaging 1.00
R0638:Olfr995 UTSW 2 85438501 missense probably benign 0.03
R1668:Olfr995 UTSW 2 85438876 missense probably benign 0.00
R1718:Olfr995 UTSW 2 85438805 missense probably benign 0.39
R4981:Olfr995 UTSW 2 85438469 missense probably damaging 1.00
R5261:Olfr995 UTSW 2 85438897 missense probably benign
R7036:Olfr995 UTSW 2 85438430 missense probably damaging 1.00
R7899:Olfr995 UTSW 2 85438397 missense probably benign 0.39
R7982:Olfr995 UTSW 2 85438397 missense probably benign 0.39
Posted On2015-04-16