Incidental Mutation 'IGL02747:Olfr918'
ID306076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr918
Ensembl Gene ENSMUSG00000046150
Gene Nameolfactory receptor 918
SynonymsGA_x6K02T2PVTD-32375756-32374818, MOR164-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.235) question?
Stock #IGL02747
Quality Score
Status
Chromosome9
Chromosomal Location38669861-38674601 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38673084 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 133 (Y133C)
Ref Sequence ENSEMBL: ENSMUSP00000057210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055099] [ENSMUST00000215461]
Predicted Effect probably benign
Transcript: ENSMUST00000055099
AA Change: Y133C

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000057210
Gene: ENSMUSG00000046150
AA Change: Y133C

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:7tm_4 44 319 6.5e-48 PFAM
Pfam:7tm_1 54 301 3.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213750
Predicted Effect probably benign
Transcript: ENSMUST00000215461
AA Change: Y120C

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216579
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,373,282 L3373* probably null Het
Ap1s3 T C 1: 79,623,692 Y94C probably damaging Het
BC048403 A C 10: 121,745,550 Q152P possibly damaging Het
Dbx2 T C 15: 95,632,439 T216A probably benign Het
Dsg4 A G 18: 20,446,938 R67G probably damaging Het
Eng G A 2: 32,672,958 probably null Het
Gm28042 T A 2: 120,031,394 I206N probably damaging Het
Gsdmc4 C T 15: 63,893,871 M276I probably benign Het
Itih2 A G 2: 10,097,945 S793P probably benign Het
Kcnj13 T C 1: 87,389,365 N9D probably benign Het
Krt78 T A 15: 101,950,384 probably benign Het
Megf10 A G 18: 57,290,493 K985E probably benign Het
Naa25 A G 5: 121,414,605 probably benign Het
Plekhm2 T C 4: 141,634,272 T307A possibly damaging Het
Ppp1cc A G 5: 122,174,073 K301E probably benign Het
Ralgds T C 2: 28,548,110 probably benign Het
Rccd1 A T 7: 80,320,490 D126E probably benign Het
Reps1 T C 10: 18,123,600 S712P probably damaging Het
Rnf103 T A 6: 71,509,177 I264N probably damaging Het
Rpap1 A G 2: 119,774,128 I433T probably damaging Het
Ryr2 T G 13: 11,655,677 N3478H probably damaging Het
Sox30 A G 11: 45,980,945 D209G probably benign Het
Sox6 A G 7: 115,489,746 F628S probably damaging Het
Tas1r3 C T 4: 155,860,460 G768D possibly damaging Het
Tesk2 T C 4: 116,802,879 V398A probably benign Het
Tmem135 A T 7: 89,144,670 I388N probably damaging Het
Tpgs2 A G 18: 25,139,145 probably benign Het
Vmn2r120 G A 17: 57,524,719 H357Y probably benign Het
Other mutations in Olfr918
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Olfr918 APN 9 38673024 missense probably benign 0.01
IGL01388:Olfr918 APN 9 38673083 nonsense probably null
IGL01516:Olfr918 APN 9 38672863 missense probably benign 0.09
IGL02121:Olfr918 APN 9 38673415 missense probably damaging 0.98
IGL02209:Olfr918 APN 9 38673046 missense possibly damaging 0.84
IGL02256:Olfr918 APN 9 38673480 start codon destroyed probably null
IGL02517:Olfr918 APN 9 38672913 missense probably damaging 1.00
IGL02648:Olfr918 APN 9 38673016 missense probably benign
IGL02971:Olfr918 APN 9 38673268 missense probably damaging 0.96
E0370:Olfr918 UTSW 9 38672561 missense probably damaging 0.99
R0616:Olfr918 UTSW 9 38673480 start codon destroyed probably null
R2173:Olfr918 UTSW 9 38672944 missense probably benign 0.03
R2989:Olfr918 UTSW 9 38672535 missense probably benign
R3430:Olfr918 UTSW 9 38673139 missense probably damaging 1.00
R3809:Olfr918 UTSW 9 38672863 missense probably benign 0.09
R4688:Olfr918 UTSW 9 38673363 missense probably damaging 1.00
R4702:Olfr918 UTSW 9 38673480 start codon destroyed probably null
R5548:Olfr918 UTSW 9 38673304 missense probably benign 0.00
R5590:Olfr918 UTSW 9 38672965 missense probably damaging 1.00
R6082:Olfr918 UTSW 9 38672570 missense probably damaging 1.00
R6214:Olfr918 UTSW 9 38673214 missense probably benign 0.13
R6215:Olfr918 UTSW 9 38673214 missense probably benign 0.13
R6893:Olfr918 UTSW 9 38673059 missense possibly damaging 0.95
R7215:Olfr918 UTSW 9 38673447 missense probably benign 0.05
R7624:Olfr918 UTSW 9 38672623 missense probably benign 0.18
R7862:Olfr918 UTSW 9 38673328 missense probably benign 0.01
R8116:Olfr918 UTSW 9 38673168 missense possibly damaging 0.93
Posted On2015-04-16