Incidental Mutation 'IGL01752:Olfr912'
ID278845
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? Probably non essential (E-score: 0.234) question?
Stock #IGL01752
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,509,878 probably null Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Cdh4 A T 2: 179,890,884 N713I probably damaging Het
Cdkl4 T A 17: 80,543,614 probably benign Het
Ddx21 A G 10: 62,587,507 S639P probably damaging Het
Dock3 T C 9: 107,025,313 probably benign Het
Fan1 G A 7: 64,372,794 T237M probably benign Het
Fbn2 T A 18: 58,075,977 probably null Het
Fhad1 T C 4: 141,972,899 K347E possibly damaging Het
Gucy2c C A 6: 136,770,108 A118S probably benign Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lox A G 18: 52,520,854 V390A possibly damaging Het
Lyn A T 4: 3,743,286 M69L probably benign Het
Mrgprb5 A G 7: 48,168,667 F107L probably benign Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Pcnx3 T A 19: 5,665,337 K1962* probably null Het
Pde3a T C 6: 141,487,613 probably benign Het
Phf10 A G 17: 14,954,950 probably benign Het
Prune2 A G 19: 17,123,903 E2257G possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Slc4a11 T G 2: 130,688,145 T238P probably damaging Het
Ssu2 T A 6: 112,375,592 K279N probably damaging Het
Tead3 A T 17: 28,333,594 I275N probably damaging Het
Ttn T C 2: 76,744,793 E25252G probably damaging Het
Twsg1 T C 17: 65,929,784 T84A probably benign Het
Ugt3a1 A T 15: 9,306,146 K127M probably damaging Het
Unc13c A T 9: 73,931,811 M586K probably benign Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Vps13c T A 9: 67,948,228 I2525N probably damaging Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Zfp52 T G 17: 21,560,150 C87G probably benign 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
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
IGL02317: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
R7915:Olfr912 UTSW 9 38581673 missense probably damaging 1.00
Z1176:Olfr912 UTSW 9 38581885 missense probably damaging 1.00
Posted On2015-04-16