Incidental Mutation 'IGL03274:Olfr117'
ID415348
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 #IGL03274
Quality Score
Status
Chromosome17
Chromosomal Location37657600-37663782 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 37659755 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 193 (A193T)
Ref Sequence ENSEMBL: ENSMUSP00000150204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073636] [ENSMUST00000213638] [ENSMUST00000215414]
Predicted Effect probably benign
Transcript: ENSMUST00000073636
AA Change: A193T

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000073320
Gene: ENSMUSG00000095286
AA Change: A193T

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: A193T

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215414
AA Change: A193T

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037H04Rik A T 2: 131,153,592 probably null Het
Anln C A 9: 22,382,269 R26M probably damaging Het
Capn15 A T 17: 25,961,838 S753T probably damaging Het
Ccdc62 A G 5: 123,954,680 N576S probably benign Het
Csmd3 T C 15: 47,645,504 D2895G probably damaging Het
Dspp T A 5: 104,174,948 V37E probably damaging Het
Efcab6 T C 15: 83,868,249 D1473G probably damaging Het
Ehhadh T C 16: 21,763,340 probably benign Het
Fbln1 T C 15: 85,232,678 probably null Het
Gbp9 A G 5: 105,082,786 V424A possibly damaging Het
Gda T C 19: 21,417,007 Y236C possibly damaging Het
Gm11639 A T 11: 104,721,093 D587V probably benign Het
Gm4884 A G 7: 41,044,545 E646G probably damaging Het
Gm4952 C A 19: 12,623,596 probably benign Het
Gm5422 G T 10: 31,250,352 noncoding transcript Het
Grin2b C T 6: 135,780,255 D403N possibly damaging Het
Hsf2bp G A 17: 32,007,770 R204C probably damaging Het
Il16 T C 7: 83,661,234 E488G probably damaging Het
Kat6b G T 14: 21,609,763 D212Y possibly damaging Het
Kctd2 A C 11: 115,429,382 I247L possibly damaging Het
Kel T A 6: 41,687,995 probably null Het
Krt20 A T 11: 99,430,029 probably benign Het
Litaf T C 16: 10,966,569 T26A probably damaging Het
N4bp2l2 G T 5: 150,661,466 Q350K probably damaging Het
Nav2 T G 7: 49,362,099 I26S probably damaging Het
Nfya A G 17: 48,391,347 Y162H probably damaging Het
Pbx4 A T 8: 69,866,550 S244C probably damaging Het
Pcdhb16 T C 18: 37,479,232 V415A probably benign Het
Rbbp8 A G 18: 11,741,076 probably benign Het
Sp100 T C 1: 85,707,304 probably benign Het
Spag16 A G 1: 69,844,381 probably benign Het
Star A G 8: 25,811,054 D138G possibly damaging 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
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
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 On2016-08-02