Incidental Mutation 'IGL02102:Olfr995'
ID279778
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: 0.138) question?
Stock #IGL02102
Quality Score
Status
Chromosome2
Chromosomal Location85437528-85443639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85438267 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 297 (V297A)
Ref Sequence ENSEMBL: ENSMUSP00000149952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099924] [ENSMUST00000214679] [ENSMUST00000216933] [ENSMUST00000217218]
Predicted Effect probably damaging
Transcript: ENSMUST00000099924
AA Change: V297A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097508
Gene: ENSMUSG00000075218
AA Change: V297A

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 probably damaging
Transcript: ENSMUST00000216933
AA Change: V297A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,777,439 T1338A probably benign Het
Adcy3 G A 12: 4,134,699 C125Y probably damaging Het
Aoc1 A T 6: 48,905,962 K257N probably damaging Het
Apob T C 12: 7,989,407 V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 V684D probably benign Het
AW551984 A G 9: 39,589,691 W763R probably damaging Het
Blm G A 7: 80,469,756 T1026M probably damaging Het
Cd160 A G 3: 96,805,570 I126T possibly damaging Het
Cdk14 T C 5: 5,380,083 K15E probably benign Het
Cnot6l T C 5: 96,091,659 K261R probably damaging Het
Cyp3a13 T G 5: 137,911,603 T153P probably benign Het
Ddx24 A G 12: 103,408,484 probably benign Het
Dido1 G A 2: 180,662,247 T1288I possibly damaging Het
Dnajc13 A G 9: 104,229,009 V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 Y117* probably null Het
Dsg1a A G 18: 20,332,032 N427D probably benign Het
Gabrq T G X: 72,827,545 probably null Het
Glce A G 9: 62,070,601 probably benign Het
Gm10477 T C X: 56,525,401 L45P probably damaging Het
Htt T A 5: 34,891,481 probably benign Het
Ift140 A G 17: 25,033,130 E317G probably benign Het
Jak1 A G 4: 101,159,086 M827T probably benign Het
Kalrn A G 16: 34,220,222 V932A probably damaging Het
Mdm2 A C 10: 117,692,717 S227R possibly damaging Het
Olfr1216 A G 2: 89,013,126 probably benign Het
Olfr153 T C 2: 87,532,461 F143L probably benign Het
Olfr305 T C 7: 86,363,866 Y157C probably benign Het
Olfr996 G A 2: 85,579,673 V145I probably damaging Het
Pdilt T G 7: 119,486,950 E514A probably benign Het
Pepd A G 7: 34,945,603 D153G probably damaging Het
Ptgis A T 2: 167,225,447 V70E probably damaging Het
Rnf112 T C 11: 61,452,015 K262E probably benign Het
Setd5 G T 6: 113,150,985 G1300* probably null Het
Snx15 A G 19: 6,122,074 L113P possibly damaging Het
Sptbn1 T C 11: 30,137,427 D1004G probably damaging Het
Ston2 A C 12: 91,639,724 *896G probably null Het
Suco A G 1: 161,827,705 S1073P probably damaging Het
Susd1 A C 4: 59,369,636 D344E possibly damaging Het
Trnt1 G T 6: 106,778,112 probably null Het
Ttll12 A G 15: 83,582,063 F399S probably damaging Het
Vmn1r124 C T 7: 21,260,542 V26I probably benign Het
Vmn1r52 T A 6: 90,179,207 N164K possibly damaging Het
Vmn1r56 A T 7: 5,196,336 M94K possibly damaging Het
Vmn1r80 T C 7: 12,193,691 F243L probably damaging Het
Zdhhc8 G A 16: 18,225,199 S379F possibly damaging Het
Other mutations in Olfr995
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02540:Olfr995 APN 2 85438915 missense probably benign 0.05
IGL02687:Olfr995 APN 2 85438586 missense possibly damaging 0.93
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