Incidental Mutation 'IGL00226:Olfr27'
ID2289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr27
Ensembl Gene ENSMUSG00000049708
Gene Nameolfactory receptor 27
SynonymsMOR171-6, GA_x6K02T2PVTD-32841223-32842158, MTPCR56
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL00226
Quality Score
Status
Chromosome9
Chromosomal Location39128131-39145072 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 39144757 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 219 (I219N)
Ref Sequence ENSEMBL: ENSMUSP00000150009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214052] [ENSMUST00000216405]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057811
AA Change: I219N

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110642
Gene: ENSMUSG00000049708
AA Change: I219N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.6e-49 PFAM
Pfam:7tm_1 41 290 2.4e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214052
AA Change: I219N

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216405
AA Change: I219N

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
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
1810062G17Rik C A 3: 36,479,541 probably benign Het
5430419D17Rik T A 7: 131,238,094 probably null Het
Ankib1 G A 5: 3,727,573 S439L probably benign Het
Cpd G T 11: 76,797,789 H886N probably benign Het
Dhrs7 A G 12: 72,659,350 C94R probably damaging Het
Dmxl2 T A 9: 54,415,993 H1369L probably damaging Het
Dnah5 A G 15: 28,272,342 N1068S probably benign Het
Dopey1 T A 9: 86,551,679 D2329E possibly damaging Het
Eif1ad A G 19: 5,368,184 probably benign Het
Fam149a T C 8: 45,339,343 R693G probably damaging Het
Fbxw18 T A 9: 109,693,343 T153S probably benign Het
Glg1 A T 8: 111,159,849 C1104S probably damaging Het
Jak3 T C 8: 71,681,697 probably benign Het
Kctd6 C T 14: 8,222,856 R233C possibly damaging Het
Kpna3 A G 14: 61,374,288 V300A possibly damaging Het
Msh5 A T 17: 35,029,881 Y725* probably null Het
Myh2 T C 11: 67,185,233 S749P possibly damaging Het
Olfr1215 A G 2: 89,001,339 probably benign Het
Olfr199 A T 16: 59,216,496 M39K probably damaging Het
Olfr697 T A 7: 106,741,701 T78S probably benign Het
Pdcd1 A G 1: 94,040,135 probably benign Het
Pde5a T A 3: 122,794,357 F391I probably damaging Het
Ptpn12 A C 5: 20,998,668 S371A probably damaging Het
Sec16b A G 1: 157,538,330 Y254C probably damaging Het
Slc2a10 G A 2: 165,514,780 C120Y probably damaging Het
Spink5 G A 18: 43,987,871 probably benign Het
Svil A G 18: 5,099,045 Q1250R probably benign Het
Tph1 G T 7: 46,656,870 N222K probably benign Het
Vmn2r83 A T 10: 79,478,971 D351V probably damaging Het
Zfp54 A G 17: 21,433,559 D105G possibly damaging Het
Zfp623 T C 15: 75,948,203 I336T probably damaging Het
Other mutations in Olfr27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Olfr27 APN 9 39145030 missense probably damaging 1.00
IGL02346:Olfr27 APN 9 39144643 missense probably damaging 1.00
R0117:Olfr27 UTSW 9 39144850 missense probably damaging 1.00
R0118:Olfr27 UTSW 9 39144103 start codon destroyed probably null 0.97
R0590:Olfr27 UTSW 9 39144721 missense probably benign 0.01
R2915:Olfr27 UTSW 9 39144466 missense possibly damaging 0.94
R4299:Olfr27 UTSW 9 39144999 missense probably benign 0.11
R4367:Olfr27 UTSW 9 39144429 missense probably damaging 0.98
R4663:Olfr27 UTSW 9 39144849 missense probably damaging 0.97
R5276:Olfr27 UTSW 9 39144315 missense probably damaging 1.00
R5503:Olfr27 UTSW 9 39144484 missense probably benign 0.02
R5742:Olfr27 UTSW 9 39144678 missense probably benign 0.07
R5986:Olfr27 UTSW 9 39144982 missense probably null 1.00
R6801:Olfr27 UTSW 9 39144210 missense probably benign 0.01
R7247:Olfr27 UTSW 9 39144857 nonsense probably null
R7520:Olfr27 UTSW 9 39144118 missense probably benign
R7787:Olfr27 UTSW 9 39144252 missense probably benign 0.22
Posted On2011-12-09