Incidental Mutation 'IGL01824:Olfr1272'
ID154622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1272
Ensembl Gene ENSMUSG00000075061
Gene Nameolfactory receptor 1272
SynonymsGA_x6K02T2Q125-51636504-51635578, MOR227-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL01824
Quality Score
Status
Chromosome2
Chromosomal Location90280263-90292841 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 90281919 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 219 (I219F)
Ref Sequence ENSEMBL: ENSMUSP00000150745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099750] [ENSMUST00000117141]
Predicted Effect probably damaging
Transcript: ENSMUST00000099750
AA Change: I219F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: I219F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 7.5e-52 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.5e-5 PFAM
Pfam:7tm_1 39 285 1.8e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117141
AA Change: I219F

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c G A 7: 84,151,289 R186C probably benign Het
Ankar A G 1: 72,651,727 V1196A probably benign Het
Asah1 A T 8: 41,349,543 probably benign Het
Chrm1 T C 19: 8,679,130 W400R probably damaging Het
Cyp27a1 G T 1: 74,735,881 E290* probably null Het
Dnah7a T C 1: 53,504,270 D2247G probably benign Het
Gins4 G A 8: 23,234,768 Q57* probably null Het
Gli1 T C 10: 127,336,527 D219G probably benign Het
Greb1 A T 12: 16,711,716 C554* probably null Het
Gtf2ird2 T C 5: 134,197,282 probably benign Het
Ifna15 T C 4: 88,557,783 R155G probably benign Het
Lck T A 4: 129,558,146 M14L probably benign Het
Megf6 A G 4: 154,252,234 D322G probably damaging Het
Pcdh18 A T 3: 49,754,774 D697E probably damaging Het
Pnp C T 14: 50,951,413 T221I probably damaging Het
Ppl A G 16: 5,087,889 I1514T probably damaging Het
Scnn1g A G 7: 121,766,293 M523V probably benign Het
Sema4c A G 1: 36,553,029 Y246H possibly damaging Het
Slco1a5 T A 6: 142,253,037 I301F probably benign Het
Srebf1 A G 11: 60,204,131 S446P probably benign Het
Sys1 T G 2: 164,463,305 L56R probably damaging Het
Trpc7 G T 13: 56,789,722 Y585* probably null Het
Vmn2r110 T A 17: 20,574,667 Y580F probably benign Het
Zmym6 G T 4: 127,108,706 V485F probably damaging Het
Other mutations in Olfr1272
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Olfr1272 APN 2 90282081 missense possibly damaging 0.55
IGL01951:Olfr1272 APN 2 90282007 missense probably damaging 1.00
IGL02473:Olfr1272 APN 2 90281696 missense probably null 1.00
IGL02494:Olfr1272 APN 2 90281951 missense probably benign 0.35
IGL03410:Olfr1272 APN 2 90282213 missense probably damaging 1.00
R0350:Olfr1272 UTSW 2 90282582 unclassified probably null
R0363:Olfr1272 UTSW 2 90281856 missense probably damaging 1.00
R0401:Olfr1272 UTSW 2 90282404 missense probably damaging 1.00
R0666:Olfr1272 UTSW 2 90281868 missense probably damaging 0.96
R1860:Olfr1272 UTSW 2 90282158 missense probably damaging 1.00
R1861:Olfr1272 UTSW 2 90282158 missense probably damaging 1.00
R2374:Olfr1272 UTSW 2 90282451 missense possibly damaging 0.76
R4256:Olfr1272 UTSW 2 90282062 missense probably damaging 1.00
R4737:Olfr1272 UTSW 2 90282381 missense probably damaging 1.00
R4827:Olfr1272 UTSW 2 90282203 missense probably damaging 1.00
R5198:Olfr1272 UTSW 2 90296393 missense probably damaging 1.00
R5589:Olfr1272 UTSW 2 90281969 missense probably damaging 1.00
R6412:Olfr1272 UTSW 2 90281858 missense probably damaging 1.00
R7130:Olfr1272 UTSW 2 90281922 missense not run
Posted On2014-02-04