Incidental Mutation 'IGL01790:Olfr1186'
ID155187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1186
Ensembl Gene ENSMUSG00000082882
Gene Nameolfactory receptor 1186
SynonymsGA_x6K02T2Q125-50012960-50013871, MOR230-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01790
Quality Score
Status
Chromosome2
Chromosomal Location88518551-88526790 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88526423 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 280 (N280S)
Ref Sequence ENSEMBL: ENSMUSP00000151114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075025] [ENSMUST00000121619] [ENSMUST00000215912] [ENSMUST00000216978]
Predicted Effect probably damaging
Transcript: ENSMUST00000075025
AA Change: N280S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074542
Gene: ENSMUSG00000057735
AA Change: N280S

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 2.5e-51 PFAM
Pfam:7tm_1 38 284 4.8e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121619
AA Change: N280S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215912
AA Change: N280S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216978
AA Change: N280S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Arhgap8 A C 15: 84,767,214 I288L possibly damaging Het
Astn1 T C 1: 158,580,327 I618T possibly damaging Het
Bod1l T C 5: 41,832,250 S377G probably benign Het
Disp2 A T 2: 118,790,880 S698C probably damaging Het
Ehbp1l1 A G 19: 5,722,984 V43A probably damaging Het
Eml5 G T 12: 98,798,932 T1539K probably damaging Het
Fmnl2 T C 2: 53,118,368 I824T probably damaging Het
Gpr75 T G 11: 30,891,132 N12K probably damaging Het
Hap1 C T 11: 100,351,906 probably null Het
Helz2 A C 2: 181,238,481 Y481D probably benign Het
Klhl3 T C 13: 58,009,422 probably null Het
Lrcol1 A G 5: 110,354,207 S49G probably damaging Het
Magi3 A G 3: 104,085,244 M304T probably damaging Het
Med13l T C 5: 118,593,522 W88R probably damaging Het
Nfatc1 A G 18: 80,667,042 V503A probably damaging Het
Ntm C A 9: 29,411,590 V45L probably benign Het
Olfr1184 T A 2: 88,486,926 S65T possibly damaging Het
Olfr1313 T A 2: 112,071,921 I221L probably benign Het
Olfr1471 A G 19: 13,445,162 D50G probably damaging Het
Olfr19 T C 16: 16,673,103 R293G probably damaging Het
Pias4 T C 10: 81,157,498 Q197R probably damaging Het
Pkhd1 T A 1: 20,558,671 H684L probably damaging Het
Psmb3 T A 11: 97,712,510 M183K probably damaging Het
Rasal1 T C 5: 120,670,318 F472L possibly damaging Het
Rpl3 A T 15: 80,079,860 probably benign Het
Scin A T 12: 40,063,257 D538E probably benign Het
Sdhb T C 4: 140,973,727 S165P probably benign Het
Slc43a2 C A 11: 75,545,751 probably null Het
Sparc C T 11: 55,407,215 probably null Het
Tcf25 A G 8: 123,393,236 E382G possibly damaging Het
Tmx3 G A 18: 90,511,334 probably null Het
Trim24 C T 6: 37,945,613 P452S probably benign Het
Vsig10 T A 5: 117,338,314 W278R probably damaging Het
Other mutations in Olfr1186
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01311:Olfr1186 APN 2 88525760 missense possibly damaging 0.87
IGL01727:Olfr1186 APN 2 88525927 missense probably benign 0.03
IGL01868:Olfr1186 APN 2 88525715 missense possibly damaging 0.66
IGL03146:Olfr1186 APN 2 88526144 missense possibly damaging 0.90
IGL03378:Olfr1186 APN 2 88526154 nonsense probably null
R0053:Olfr1186 UTSW 2 88526163 missense probably damaging 1.00
R0829:Olfr1186 UTSW 2 88526228 missense probably damaging 1.00
R1210:Olfr1186 UTSW 2 88526276 missense possibly damaging 0.89
R1754:Olfr1186 UTSW 2 88525815 missense probably damaging 0.99
R2260:Olfr1186 UTSW 2 88526386 missense possibly damaging 0.93
R3426:Olfr1186 UTSW 2 88525864 missense probably damaging 1.00
R3781:Olfr1186 UTSW 2 88526365 missense probably benign 0.23
R4737:Olfr1186 UTSW 2 88526225 missense probably damaging 1.00
R4908:Olfr1186 UTSW 2 88525910 missense probably damaging 1.00
R4932:Olfr1186 UTSW 2 88525735 missense probably benign 0.02
R5071:Olfr1186 UTSW 2 88526041 missense probably damaging 1.00
R5831:Olfr1186 UTSW 2 88526480 nonsense probably null
R6222:Olfr1186 UTSW 2 88499270 missense probably benign 0.34
R6370:Olfr1186 UTSW 2 88499368 nonsense probably null
R6802:Olfr1186 UTSW 2 88525597 missense probably benign 0.02
R6931:Olfr1186 UTSW 2 88526194 missense possibly damaging 0.50
R7044:Olfr1186 UTSW 2 88526486 missense probably benign
R7121:Olfr1186 UTSW 2 88525826 missense probably damaging 1.00
R7166:Olfr1186 UTSW 2 88525646 missense possibly damaging 0.89
R7387:Olfr1186 UTSW 2 88526400 nonsense probably null
R7891:Olfr1186 UTSW 2 88525945 missense probably benign 0.04
R7951:Olfr1186 UTSW 2 88525804 missense probably damaging 0.98
R7978:Olfr1186 UTSW 2 88525670 nonsense probably null
R8016:Olfr1186 UTSW 2 88526173 missense probably damaging 0.99
R8039:Olfr1186 UTSW 2 88525871 missense probably benign 0.07
R8389:Olfr1186 UTSW 2 88525587 start codon destroyed probably null
Posted On2014-02-04