Incidental Mutation 'IGL02434:Olfr116'
ID293202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr116
Ensembl Gene ENSMUSG00000061336
Gene Nameolfactory receptor 116
SynonymsMOR218-2, GA_x6K02T2PSCP-2084102-2083137
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02434
Quality Score
Status
Chromosome17
Chromosomal Location37620577-37627199 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37624576 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 20 (N20Y)
Ref Sequence ENSEMBL: ENSMUSP00000150977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072265] [ENSMUST00000216128] [ENSMUST00000223366]
Predicted Effect probably benign
Transcript: ENSMUST00000072265
AA Change: N20Y

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072115
Gene: ENSMUSG00000061336
AA Change: N20Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.9e-45 PFAM
Pfam:7TM_GPCR_Srsx 35 305 2.1e-6 PFAM
Pfam:7tm_1 41 290 6.1e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216128
AA Change: N20Y

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000223366
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C A 15: 73,121,081 G525V probably damaging Het
Agxt2 T C 15: 10,358,600 S2P possibly damaging Het
Atg2b C T 12: 105,639,207 V339I probably benign Het
Btc T A 5: 91,362,327 I136F probably damaging Het
Cemip A T 7: 83,955,284 M850K probably damaging Het
Cfap54 T A 10: 93,066,754 T179S probably benign Het
Chd7 T C 4: 8,752,145 L214P probably benign Het
Garnl3 T A 2: 33,054,205 N114I probably damaging Het
Gm10010 G T 6: 128,200,470 noncoding transcript Het
Gstcd A G 3: 132,996,202 probably benign Het
Htr2b A G 1: 86,110,770 V38A probably benign Het
Hyal4 G A 6: 24,763,858 W339* probably null Het
Ifnb1 A G 4: 88,522,518 V86A probably damaging Het
Itpr1 A G 6: 108,489,922 probably null Het
Jag1 T C 2: 137,087,155 S794G probably benign Het
Kdm5c T A X: 152,233,562 M1K probably null Het
Lct A G 1: 128,303,790 V774A probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Med14 A T X: 12,745,824 D371E possibly damaging Het
Nrcam A G 12: 44,590,243 probably benign Het
Olfr670 A T 7: 104,960,072 M220K probably benign Het
Olfr670 A T 7: 104,960,074 Y219* probably null Het
Pitpnm1 C T 19: 4,103,377 R178W probably benign Het
Prkcg A G 7: 3,318,890 I324V probably benign Het
Prpmp5 T A 6: 132,312,376 R162W unknown Het
Prr30 A T 14: 101,198,368 C253S possibly damaging Het
Ptgis A T 2: 167,240,342 probably null Het
Rab11fip3 C T 17: 26,068,835 A115T possibly damaging Het
Reps2 C T X: 162,526,257 probably null Het
Rev3l A G 10: 39,822,591 D1028G probably damaging Het
Rsbn1l T C 5: 20,919,734 R357G probably damaging Het
Scn5a A G 9: 119,533,793 L587P possibly damaging Het
Tanc2 C T 11: 105,780,042 T155I probably benign Het
Tfb2m A G 1: 179,532,135 probably benign Het
Tfpi A G 2: 84,452,548 probably benign Het
Tg T C 15: 66,764,342 S593P probably damaging Het
Unc13c T C 9: 73,932,628 S314G probably benign Het
Other mutations in Olfr116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02639:Olfr116 APN 17 37623987 missense probably benign 0.01
IGL02663:Olfr116 APN 17 37624044 missense probably benign 0.37
R0049:Olfr116 UTSW 17 37624133 missense probably benign 0.02
R1260:Olfr116 UTSW 17 37623703 missense probably benign 0.00
R1531:Olfr116 UTSW 17 37624352 nonsense probably null
R3236:Olfr116 UTSW 17 37624236 missense possibly damaging 0.65
R4083:Olfr116 UTSW 17 37624425 missense probably damaging 1.00
R4308:Olfr116 UTSW 17 37623736 missense possibly damaging 0.46
R4887:Olfr116 UTSW 17 37623891 missense probably damaging 0.99
R5167:Olfr116 UTSW 17 37623751 nonsense probably null
R5323:Olfr116 UTSW 17 37624155 missense probably benign 0.22
R5496:Olfr116 UTSW 17 37624578 missense probably benign 0.01
R5530:Olfr116 UTSW 17 37623807 missense possibly damaging 0.72
R5643:Olfr116 UTSW 17 37624432 missense probably benign 0.00
R5644:Olfr116 UTSW 17 37624432 missense probably benign 0.00
R5798:Olfr116 UTSW 17 37623990 missense probably benign 0.01
R6020:Olfr116 UTSW 17 37623967 missense possibly damaging 0.94
R7058:Olfr116 UTSW 17 37623706 missense probably benign 0.00
R7453:Olfr116 UTSW 17 37624385 missense probably benign 0.00
R7474:Olfr116 UTSW 17 37624386 missense probably benign 0.30
R7565:Olfr116 UTSW 17 37624501 missense probably damaging 0.99
R7646:Olfr116 UTSW 17 37624404 missense probably damaging 1.00
Z1088:Olfr116 UTSW 17 37624429 missense probably damaging 0.98
Posted On2015-04-16