Incidental Mutation 'IGL01949:Olfr117'
ID180997
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: 0.091) question?
Stock #IGL01949
Quality Score
Status
Chromosome17
Chromosomal Location37657600-37663782 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37659466 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 289 (Y289C)
Ref Sequence ENSEMBL: ENSMUSP00000150204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073636] [ENSMUST00000213638] [ENSMUST00000215414]
Predicted Effect probably damaging
Transcript: ENSMUST00000073636
AA Change: Y289C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073320
Gene: ENSMUSG00000095286
AA Change: Y289C

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 damaging
Transcript: ENSMUST00000213638
AA Change: Y289C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215414
AA Change: Y289C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,326,106 R1247L probably benign Het
Atp2a3 T A 11: 72,981,897 M757K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
D430042O09Rik G A 7: 125,761,842 W108* probably null Het
Dusp5 T C 19: 53,537,473 I182T probably damaging Het
Fuca1 T A 4: 135,923,109 probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hap1 G T 11: 100,348,762 D610E probably damaging Het
Hoxa6 T A 6: 52,206,531 Y178F possibly damaging Het
Ighmbp2 A C 19: 3,265,538 D627E probably benign Het
Itgae T C 11: 73,118,184 I497T probably benign Het
Kbtbd3 A G 9: 4,331,066 D480G possibly damaging Het
Kmt2b A T 7: 30,577,161 probably null Het
Krt5 T A 15: 101,710,613 M278L probably benign Het
Krtap4-9 G A 11: 99,785,565 probably benign Het
Myl12a T C 17: 70,996,714 D56G probably benign Het
Pdgfra C A 5: 75,170,665 H310Q probably damaging Het
Pglyrp2 G T 17: 32,416,106 probably null Het
Polk C T 13: 96,483,538 S718N probably benign Het
Ppip5k1 T A 2: 121,337,860 H687L probably benign Het
Pram1 A T 17: 33,641,335 Q292L probably damaging Het
Prodh2 A G 7: 30,509,765 probably null Het
Rgs9 A T 11: 109,259,834 probably null Het
Stk-ps2 A G 1: 46,029,988 noncoding transcript Het
Svep1 C T 4: 58,176,006 G298R probably damaging Het
Troap T C 15: 99,081,221 S341P probably benign Het
Ugt3a2 T C 15: 9,335,729 F12S probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp236 G T 18: 82,624,396 T1123K probably damaging Het
Other mutations in Olfr117
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Olfr117 APN 17 37659477 missense probably damaging 1.00
IGL02085:Olfr117 APN 17 37659688 missense probably benign 0.11
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 not run
Posted On2014-05-07