Incidental Mutation 'IGL02361:Olfr1231'
ID290496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1231
Ensembl Gene ENSMUSG00000075093
Gene Nameolfactory receptor 1231
SynonymsGA_x6K02T2Q125-50748233-50747292, MOR235-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02361
Quality Score
Status
Chromosome2
Chromosomal Location89299786-89307074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89303182 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 137 (M137L)
Ref Sequence ENSEMBL: ENSMUSP00000150310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099786] [ENSMUST00000216144]
Predicted Effect probably benign
Transcript: ENSMUST00000099786
AA Change: M137L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097374
Gene: ENSMUSG00000075093
AA Change: M137L

DomainStartEndE-ValueType
Pfam:7tm_4 32 306 7e-43 PFAM
Pfam:7tm_1 42 288 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216144
AA Change: M137L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp1 A C 6: 55,345,513 L164F possibly damaging Het
Bfsp1 T C 2: 143,831,987 E261G probably damaging Het
Brinp2 A G 1: 158,247,178 C458R probably damaging Het
Cacng3 T G 7: 122,671,946 M58R possibly damaging Het
Cfap43 A T 19: 47,897,413 C254* probably null Het
Cnga1 T C 5: 72,616,718 probably null Het
Dis3 A T 14: 99,079,712 Y765* probably null Het
Dpep1 T A 8: 123,200,218 S260R probably benign Het
Elmod1 A G 9: 53,931,558 L106P probably damaging Het
Fut10 A G 8: 31,201,370 Y81C probably damaging Het
Fzd10 T A 5: 128,601,868 D217E possibly damaging Het
Gap43 T C 16: 42,340,508 probably benign Het
Gigyf1 T C 5: 137,519,727 probably benign Het
Gm1840 T C 8: 5,640,896 noncoding transcript Het
Gpc5 C T 14: 115,133,287 R175* probably null Het
Kcna1 C A 6: 126,642,906 Q150H probably damaging Het
Lama5 A T 2: 180,193,884 C1225* probably null Het
Lrrc25 A T 8: 70,617,827 D86V probably benign Het
Madd A T 2: 91,162,198 V1043E probably benign Het
Mov10 A T 3: 104,804,121 probably benign Het
Mzb1 T A 18: 35,649,197 H46L possibly damaging Het
Nek10 A T 14: 14,843,856 Q193L probably damaging Het
Nos3 A T 5: 24,367,623 I187F probably damaging Het
Olfr473 T A 7: 107,934,277 Y252* probably null Het
Olfr822 A G 10: 130,075,274 Y288C probably damaging Het
Pgap1 T C 1: 54,512,816 T486A probably benign Het
Prdm9 C T 17: 15,562,847 V58M probably damaging Het
Prkd2 A G 7: 16,847,658 Y146C probably damaging Het
Psmd9 G T 5: 123,248,316 R175I probably damaging Het
Pxdn A G 12: 29,999,189 D618G probably damaging Het
Rgs6 A T 12: 82,618,619 probably benign Het
Rrm2 G T 12: 24,711,439 probably benign Het
Shank3 T C 15: 89,504,333 V376A probably damaging Het
Slc5a10 A G 11: 61,719,840 probably null Het
Slfn3 A T 11: 83,213,242 Q313L possibly damaging Het
Sptbn1 A T 11: 30,110,783 F2062L probably damaging Het
Tbc1d10a T C 11: 4,215,047 V500A probably benign Het
Tcea1 T C 1: 4,896,347 probably benign Het
Thsd7a T C 6: 12,348,193 probably benign Het
Tm9sf4 C T 2: 153,187,650 T173M probably benign Het
Tmtc2 T C 10: 105,271,526 T709A probably benign Het
Zfp385b T C 2: 77,450,303 E97G probably damaging Het
Zim1 A T 7: 6,682,874 probably null Het
Other mutations in Olfr1231
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Olfr1231 APN 2 89303472 missense possibly damaging 0.90
IGL02189:Olfr1231 APN 2 89303297 missense probably damaging 1.00
IGL02354:Olfr1231 APN 2 89303182 missense probably benign 0.03
PIT4305001:Olfr1231 UTSW 2 89303383 missense probably benign 0.05
R0973:Olfr1231 UTSW 2 89303184 missense probably damaging 1.00
R0973:Olfr1231 UTSW 2 89303184 missense probably damaging 1.00
R0974:Olfr1231 UTSW 2 89303184 missense probably damaging 1.00
R2006:Olfr1231 UTSW 2 89302816 missense possibly damaging 0.60
R3150:Olfr1231 UTSW 2 89303218 missense possibly damaging 0.82
R3177:Olfr1231 UTSW 2 89303218 missense possibly damaging 0.82
R3277:Olfr1231 UTSW 2 89303218 missense possibly damaging 0.82
R3409:Olfr1231 UTSW 2 89303373 missense probably benign
R4208:Olfr1231 UTSW 2 89302926 missense probably damaging 1.00
R4412:Olfr1231 UTSW 2 89303340 missense probably benign 0.00
R4693:Olfr1231 UTSW 2 89303277 missense probably benign 0.07
R4697:Olfr1231 UTSW 2 89302902 missense possibly damaging 0.90
R4697:Olfr1231 UTSW 2 89302903 missense probably damaging 1.00
R5411:Olfr1231 UTSW 2 89303576 missense probably benign
R5992:Olfr1231 UTSW 2 89303359 missense possibly damaging 0.50
R6894:Olfr1231 UTSW 2 89303493 missense probably damaging 1.00
R8017:Olfr1231 UTSW 2 89303251 missense possibly damaging 0.94
R8019:Olfr1231 UTSW 2 89303251 missense possibly damaging 0.94
X0064:Olfr1231 UTSW 2 89302902 missense possibly damaging 0.72
X0067:Olfr1231 UTSW 2 89303154 missense possibly damaging 0.91
Posted On2015-04-16