Incidental Mutation 'IGL01753:Olfr912'
ID278833
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: 0.313) question?
Stock #IGL01753
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
Adamts1 A G 16: 85,802,224 F163L probably benign Het
Ap2b1 A G 11: 83,321,973 T60A probably damaging Het
Casp3 A G 8: 46,629,741 probably benign Het
Ces1d T C 8: 93,192,810 Y118C probably damaging Het
Chuk T C 19: 44,098,576 probably benign Het
Clec4b2 A T 6: 123,202,210 Y157F possibly damaging Het
Dlg4 T A 11: 70,041,347 F480I probably damaging Het
Dock8 T A 19: 25,061,292 probably benign Het
Dsg1b T C 18: 20,397,849 probably benign Het
Dstyk T C 1: 132,462,939 Y830H probably damaging Het
Gm9268 T A 7: 43,024,715 V399E probably damaging Het
Hook2 T C 8: 84,993,236 probably null Het
Ighv2-9-1 T C 12: 113,769,928 D91G probably damaging Het
Igkv12-41 T C 6: 69,858,526 R81G probably damaging Het
Ispd C T 12: 36,473,177 L202F probably damaging Het
Jmjd1c T A 10: 67,232,015 S1766T probably damaging Het
Mdn1 G A 4: 32,708,483 V1670I probably benign Het
Naa15 T C 3: 51,442,853 F124L probably damaging Het
Nek2 C T 1: 191,825,486 Q187* probably null Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Pif1 G A 9: 65,593,308 G505D probably damaging Het
Plxna4 T A 6: 32,310,478 I495F probably benign Het
Ppp1r21 T C 17: 88,562,102 probably benign Het
Prex1 T C 2: 166,602,882 I282V probably benign Het
Pzp A T 6: 128,502,183 I669N possibly damaging Het
Sipa1l2 T A 8: 125,453,292 probably benign Het
Top2a T A 11: 99,007,274 T689S probably damaging Het
Trerf1 T A 17: 47,315,436 noncoding transcript Het
Uso1 T C 5: 92,152,918 probably null Het
Zcchc7 A G 4: 44,929,217 I390V probably benign Het
Zfp90 C T 8: 106,424,150 T165I 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
IGL01752: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
Z1176:Olfr912 UTSW 9 38581885 missense probably damaging 1.00
Posted On2015-04-16