Incidental Mutation 'IGL01311:Olfr1186'
ID73675
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 #IGL01311
Quality Score
Status
Chromosome2
Chromosomal Location88518551-88526790 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88525760 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 59 (F59S)
Ref Sequence ENSEMBL: ENSMUSP00000151114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075025] [ENSMUST00000121619] [ENSMUST00000215912] [ENSMUST00000216978]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075025
AA Change: F59S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074542
Gene: ENSMUSG00000057735
AA Change: F59S

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 2.5e-51 PFAM
Pfam:7tm_1 38 284 4.8e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000121619
AA Change: F59S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215912
AA Change: F59S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216978
AA Change: F59S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik C T 19: 29,754,020 V531I probably benign Het
Arap1 A T 7: 101,388,136 K457* probably null Het
Arhgef10 C A 8: 14,991,054 probably null Het
Becn1 C T 11: 101,291,516 G281S probably damaging Het
Borcs8 A G 8: 70,165,168 S59G probably damaging Het
Capn5 C A 7: 98,161,923 R53L probably damaging Het
Cdk5 C T 5: 24,419,595 probably null Het
Cnksr1 A G 4: 134,230,466 L434P probably damaging Het
Col22a1 C T 15: 71,973,637 probably benign Het
Fam208b A G 13: 3,575,885 V1355A possibly damaging Het
Fn1 T C 1: 71,628,140 D811G probably damaging Het
Gm884 T A 11: 103,534,676 R1450S unknown Het
Haus3 G A 5: 34,167,644 Q224* probably null Het
Jakmip2 A G 18: 43,557,324 probably benign Het
Jam3 T G 9: 27,098,723 T296P probably damaging Het
Kcnrg T C 14: 61,611,825 L245P probably damaging Het
Kif1b A G 4: 149,220,602 L909P probably damaging Het
Klrc3 T C 6: 129,641,412 D136G probably damaging Het
Ltf T C 9: 111,031,012 probably benign Het
Meig1 A T 2: 3,409,208 V85D possibly damaging Het
Mrgprb2 T A 7: 48,551,998 E326D probably benign Het
Nlrp2 T A 7: 5,319,239 D65V possibly damaging Het
Olfr652 T C 7: 104,564,829 Y203H probably damaging Het
Padi2 G A 4: 140,917,637 V61I probably benign Het
Pkd1l1 T C 11: 8,901,174 S753G possibly damaging Het
Ppp4r3b T C 11: 29,194,591 S314P probably benign Het
Serpina3i T C 12: 104,267,687 S305P probably damaging Het
Slc16a4 G T 3: 107,292,505 V23F possibly damaging Het
Slc25a34 G A 4: 141,621,436 T239I possibly damaging Het
Srebf2 T C 15: 82,192,203 probably benign Het
Tcf12 A T 9: 71,858,656 probably benign Het
Tnpo3 T C 6: 29,586,078 E171G possibly damaging Het
Ubr4 A G 4: 139,479,045 H4864R possibly damaging Het
Vmn2r108 A T 17: 20,462,677 L755* probably null Het
Zfp292 C T 4: 34,807,961 M1699I probably benign Het
Zmynd8 T C 2: 165,805,209 D880G probably damaging Het
Other mutations in Olfr1186
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Olfr1186 APN 2 88525927 missense probably benign 0.03
IGL01790:Olfr1186 APN 2 88526423 missense probably damaging 0.99
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 On2013-10-07