Incidental Mutation 'IGL02317:Olfr912'
ID288054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr912
Ensembl Gene ENSMUSG00000111448
Gene Nameolfactory receptor 912
SynonymsMOR165-4, GA_x6K02T2PVTD-32283590-32284522
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.307) question?
Stock #IGL02317
Quality Score
Status
Chromosome9
Chromosomal Location38580178-38586876 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 38581513 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 79 (P79S)
Ref Sequence ENSEMBL: ENSMUSP00000150014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071681] [ENSMUST00000217160]
Predicted Effect probably damaging
Transcript: ENSMUST00000071681
AA Change: P79S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071604
Gene: ENSMUSG00000049926
AA Change: P79S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.8e-51 PFAM
Pfam:7tm_1 41 290 1.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217160
AA Change: P79S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,006 noncoding transcript Het
Aak1 C T 6: 86,956,300 P418S possibly damaging Het
Abca5 T A 11: 110,327,761 Q93L probably benign Het
Arhgap22 G T 14: 33,359,273 V209L probably damaging Het
Atp6v1h G T 1: 5,084,470 R7L possibly damaging Het
Ccdc86 T C 19: 10,943,192 Q420R possibly damaging Het
Cep85 C T 4: 134,155,811 G256R probably damaging Het
Csmd2 T C 4: 128,463,727 probably benign Het
Dck T C 5: 88,774,083 Y135H probably damaging Het
Dicer1 T C 12: 104,697,020 E1434G probably damaging Het
Dst C T 1: 34,295,163 T4824I probably damaging Het
Fam20c G A 5: 138,806,360 R404H probably damaging Het
Fat1 G A 8: 45,025,818 A2611T probably benign Het
Fbxl13 C T 5: 21,522,234 C555Y probably benign Het
Gm8298 A G 3: 59,876,987 N294D probably benign Het
Gprc6a C A 10: 51,620,953 R323L probably benign Het
Grik2 A G 10: 49,422,615 F50L probably benign Het
Ibsp A G 5: 104,302,466 Y50C probably damaging Het
Il16 T A 7: 83,666,889 H437L probably damaging Het
Irf9 G A 14: 55,607,739 R352H probably damaging Het
Jph1 T C 1: 17,003,923 T624A probably benign Het
Lama5 T C 2: 180,191,319 Y1574C probably damaging Het
Lrrc26 A G 2: 25,290,302 N105S probably damaging Het
Megf8 C A 7: 25,363,788 T2523K probably damaging Het
Nckap1l A G 15: 103,461,578 I135V probably benign Het
Olfr1033 T C 2: 86,041,569 S85P probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr71 T C 4: 43,706,172 Y132C probably damaging Het
Oma1 A G 4: 103,319,037 probably benign Het
Opa1 T G 16: 29,615,166 probably null Het
Rab11b C T 17: 33,749,816 A43T probably damaging Het
Rabl2 A T 15: 89,584,289 N133K probably damaging Het
Scn10a C T 9: 119,638,555 V840I probably benign Het
Spata31d1b T C 13: 59,718,040 S1001P probably damaging Het
Tbc1d8 T C 1: 39,376,904 E896G probably benign Het
Ube2o T C 11: 116,541,563 E859G probably damaging Het
Vmn1r197 A G 13: 22,327,903 probably benign Het
Vmn2r58 A G 7: 41,837,341 I710T possibly damaging Het
Zmynd8 T C 2: 165,820,572 T533A possibly damaging Het
Other mutations in Olfr912
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Olfr912 APN 9 38581376 missense probably damaging 0.97
IGL01099:Olfr912 APN 9 38582077 missense probably benign 0.00
IGL01749:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL01750:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL01751:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL01752:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL01753:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL02262:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL02264:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL02298:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL02305:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL02309:Olfr912 APN 9 38581433 missense probably damaging 1.00
IGL02309:Olfr912 APN 9 38581513 missense probably damaging 1.00
IGL02401:Olfr912 APN 9 38581355 missense probably damaging 1.00
R0311:Olfr912 UTSW 9 38539297 missense probably benign 0.42
R0973:Olfr912 UTSW 9 38581283 missense possibly damaging 0.74
R1552:Olfr912 UTSW 9 38581379 missense probably benign 0.00
R1720:Olfr912 UTSW 9 38581289 missense probably benign
R2149:Olfr912 UTSW 9 38581508 missense probably benign 0.02
R2241:Olfr912 UTSW 9 38581805 missense probably damaging 1.00
R3622:Olfr912 UTSW 9 38581496 missense probably damaging 1.00
R4384:Olfr912 UTSW 9 38582053 missense probably damaging 1.00
R4686:Olfr912 UTSW 9 38582031 missense probably damaging 1.00
R4780:Olfr912 UTSW 9 38581969 missense possibly damaging 0.84
R5221:Olfr912 UTSW 9 38581852 missense probably damaging 1.00
R5503:Olfr912 UTSW 9 38582072 missense probably benign
R5887:Olfr912 UTSW 9 38581784 missense probably damaging 1.00
R6062:Olfr912 UTSW 9 38539144 missense probably damaging 0.97
R6516:Olfr912 UTSW 9 38581472 missense probably damaging 1.00
R6542:Olfr912 UTSW 9 38539437 missense probably benign 0.01
R6766:Olfr912 UTSW 9 38581773 missense probably damaging 1.00
R7057:Olfr912 UTSW 9 38581754 missense probably damaging 1.00
R7112:Olfr912 UTSW 9 38582034 nonsense probably null
R7414:Olfr912 UTSW 9 38581468 missense probably benign 0.00
R7514:Olfr912 UTSW 9 38582051 missense probably damaging 0.96
Z1176:Olfr912 UTSW 9 38581885 missense probably damaging 1.00
Posted On2015-04-16