Incidental Mutation 'IGL02085:Olfr117'
ID283504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr117
Ensembl Gene ENSMUSG00000095286
Gene Nameolfactory receptor 117
SynonymsGA_x6K02T2PSCP-2119438-2118485, MOR256-33
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02085
Quality Score
Status
Chromosome17
Chromosomal Location37657600-37663782 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37659688 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 215 (V215A)
Ref Sequence ENSEMBL: ENSMUSP00000150204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073636] [ENSMUST00000213638] [ENSMUST00000215414]
Predicted Effect probably benign
Transcript: ENSMUST00000073636
AA Change: V215A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000073320
Gene: ENSMUSG00000095286
AA Change: V215A

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 2.7e-44 PFAM
Pfam:7TM_GPCR_Srsx 34 222 2e-5 PFAM
Pfam:7tm_1 40 289 2.9e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213638
AA Change: V215A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215414
AA Change: V215A

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,281,557 probably null Het
Akr1c14 T A 13: 4,078,035 C145* probably null Het
Arhgef26 A G 3: 62,459,724 probably benign Het
Asb9 A G X: 164,535,456 M215V probably benign Het
Atoh8 C A 6: 72,235,173 probably benign Het
Atp6v1b1 T A 6: 83,753,915 probably benign Het
Cep97 T C 16: 55,915,505 E310G probably damaging Het
Ctrc C T 4: 141,843,714 D72N possibly damaging Het
Dnah2 A G 11: 69,458,185 I2492T probably benign Het
Emilin2 A G 17: 71,275,149 V194A probably damaging Het
Epb41l5 T C 1: 119,572,856 T524A probably benign Het
Fam91a1 A G 15: 58,441,656 N497S possibly damaging Het
Gabpb1 A T 2: 126,639,271 C319* probably null Het
Galnt10 A G 11: 57,782,278 T487A probably benign Het
Hecw2 T A 1: 53,942,802 probably null Het
Hmg20a C T 9: 56,477,302 Q119* probably null Het
Ifi44l A G 3: 151,762,840 S18P unknown Het
Immt T A 6: 71,851,836 V125E probably benign Het
Ints13 T C 6: 146,549,939 probably benign Het
Lrp1b C T 2: 40,889,309 G2574S probably benign Het
Myoc T C 1: 162,639,774 C171R probably benign Het
Ncbp1 C T 4: 46,159,699 T404M probably damaging Het
Npy6r A G 18: 44,275,931 N140D probably damaging Het
Nrxn2 A T 19: 6,492,868 M1041L possibly damaging Het
Nsmaf G A 4: 6,398,551 P851L probably benign Het
Nutm2 T A 13: 50,473,793 probably null Het
Olfr1314 A C 2: 112,092,524 M59R probably damaging Het
Olfr1329 A G 4: 118,916,750 F239S probably damaging Het
Padi2 T G 4: 140,927,157 Y206* probably null Het
Pcdh19 A T X: 133,681,258 Y766* probably null Het
Pde12 A G 14: 26,666,464 probably benign Het
Ppl C T 16: 5,089,816 G872R probably benign Het
Prkag3 C T 1: 74,748,812 probably benign Het
Ptgfr T C 3: 151,835,800 T24A probably benign Het
Rpe65 T C 3: 159,615,646 V365A probably benign Het
Shank3 T C 15: 89,503,915 probably null Het
Slco1a6 T C 6: 142,086,474 T642A probably benign Het
Slco6d1 C A 1: 98,443,743 P275T probably damaging Het
Smarca1 G T X: 47,875,232 Q343K probably damaging Het
Smoc2 A G 17: 14,347,233 T180A possibly damaging Het
Tfrc G A 16: 32,621,186 V406I probably benign Het
Tigit C T 16: 43,649,110 G206D probably benign Het
Triobp G A 15: 78,974,297 probably benign Het
Trmo T C 4: 46,380,217 Y384C probably damaging Het
Vmn1r89 T A 7: 13,219,538 I67N probably damaging Het
Wdr17 C A 8: 54,687,736 E194* probably null Het
Other mutations in Olfr117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Olfr117 APN 17 37659477 missense probably damaging 1.00
IGL01949:Olfr117 APN 17 37659466 missense probably damaging 1.00
IGL02481:Olfr117 APN 17 37659472 missense probably damaging 1.00
IGL02483:Olfr117 APN 17 37659472 missense probably damaging 1.00
IGL03274:Olfr117 APN 17 37659755 missense probably benign 0.35
R0234:Olfr117 UTSW 17 37660106 missense probably damaging 0.99
R0234:Olfr117 UTSW 17 37660106 missense probably damaging 0.99
R1522:Olfr117 UTSW 17 37659770 missense probably damaging 1.00
R1712:Olfr117 UTSW 17 37659908 missense probably benign 0.42
R1750:Olfr117 UTSW 17 37659673 missense probably damaging 1.00
R1865:Olfr117 UTSW 17 37659863 missense possibly damaging 0.78
R2371:Olfr117 UTSW 17 37660153 missense probably damaging 1.00
R2382:Olfr117 UTSW 17 37659931 missense probably benign 0.00
R3798:Olfr117 UTSW 17 37660106 missense probably damaging 0.99
R4831:Olfr117 UTSW 17 37660078 missense probably benign 0.03
R5087:Olfr117 UTSW 17 37659721 missense probably damaging 0.97
R5365:Olfr117 UTSW 17 37659695 missense probably damaging 1.00
R5812:Olfr117 UTSW 17 37659739 missense probably damaging 1.00
R5822:Olfr117 UTSW 17 37660231 missense probably damaging 1.00
R6405:Olfr117 UTSW 17 37660123 missense possibly damaging 0.58
R6945:Olfr117 UTSW 17 37659514 missense possibly damaging 0.95
R7121:Olfr117 UTSW 17 37659808 missense probably damaging 0.98
R7312:Olfr117 UTSW 17 37659512 missense possibly damaging 0.78
R7502:Olfr117 UTSW 17 37660231 missense probably damaging 1.00
R8116:Olfr117 UTSW 17 37659740 missense probably damaging 1.00
R8425:Olfr117 UTSW 17 37660084 missense probably damaging 1.00
RF017:Olfr117 UTSW 17 37659781 missense probably damaging 1.00
Posted On2015-04-16