Incidental Mutation 'IGL01660:Olfr279'
ID103133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr279
Ensembl Gene ENSMUSG00000054036
Gene Nameolfactory receptor 279
SynonymsMOR122-1, Olfr234, GA_x6K02T2NBG7-5241885-5241019, GA_x6K02T04SN1-554-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL01660
Quality Score
Status
Chromosome15
Chromosomal Location98492402-98502637 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 98498195 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 241 (T241I)
Ref Sequence ENSEMBL: ENSMUSP00000150851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050451] [ENSMUST00000205772] [ENSMUST00000216822]
Predicted Effect probably damaging
Transcript: ENSMUST00000050451
AA Change: T241I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061693
Gene: ENSMUSG00000054036
AA Change: T241I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.9e-50 PFAM
Pfam:7tm_1 41 291 2.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205676
Predicted Effect probably damaging
Transcript: ENSMUST00000205772
AA Change: T241I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216822
AA Change: T241I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik A T 19: 45,940,476 L393H probably damaging Het
Acta2 A G 19: 34,251,791 I66T probably damaging Het
Actl11 T C 9: 107,929,048 V190A probably benign Het
Ankub1 T A 3: 57,690,396 Y51F possibly damaging Het
Ccdc63 G A 5: 122,110,964 S434L possibly damaging Het
Cdan1 T A 2: 120,725,653 I711F possibly damaging Het
Cep170b C A 12: 112,744,160 N1474K probably damaging Het
Cyp2c40 A G 19: 39,786,810 S333P probably damaging Het
Dars A G 1: 128,415,344 probably benign Het
Dock3 T A 9: 107,032,364 probably benign Het
Dsp A G 13: 38,176,495 I359V possibly damaging Het
Fut8 T G 12: 77,450,258 L414* probably null Het
Gja1 A G 10: 56,388,448 Y301C probably damaging Het
Glipr1l1 T C 10: 112,072,279 S161P probably damaging Het
Gpat4 A T 8: 23,175,338 probably null Het
Grhl1 T A 12: 24,608,578 probably null Het
Hectd3 T C 4: 116,996,372 V181A possibly damaging Het
Htr2a T A 14: 74,705,754 I258N probably damaging Het
Hyou1 T A 9: 44,381,117 D83E possibly damaging Het
Myh10 T A 11: 68,785,889 L862Q probably benign Het
Nkx2-2 T C 2: 147,185,913 S36G probably benign Het
Nsun2 T A 13: 69,623,249 V326E probably benign Het
Nuak2 T C 1: 132,331,570 V362A probably benign Het
Nyap2 G A 1: 81,191,927 C133Y probably damaging Het
Oas2 T C 5: 120,741,223 T351A probably benign Het
Olfr1025-ps1 T C 2: 85,918,564 I213T probably benign Het
Pde4d A T 13: 109,938,072 I404F probably damaging Het
Pga5 A G 19: 10,675,092 S95P probably damaging Het
Pitpnm2 A T 5: 124,123,194 D947E probably damaging Het
Pla2g10 C T 16: 13,728,086 R28H probably damaging Het
Prlr A G 15: 10,317,590 D84G probably damaging Het
Rbm15b C T 9: 106,885,709 G420D probably damaging Het
Tbcd A G 11: 121,605,327 T1063A probably benign Het
Tmc2 C T 2: 130,260,224 Q770* probably null Het
Tpo T C 12: 30,119,400 probably benign Het
Vim A G 2: 13,574,813 N128D probably damaging Het
Vmn1r21 A T 6: 57,844,237 I74N probably damaging Het
Vmn2r52 A C 7: 10,159,180 I677M probably damaging Het
Other mutations in Olfr279
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0944:Olfr279 UTSW 15 98497684 missense probably benign 0.39
R1341:Olfr279 UTSW 15 98498254 missense possibly damaging 0.65
R1785:Olfr279 UTSW 15 98497835 missense probably damaging 1.00
R4504:Olfr279 UTSW 15 98498134 missense probably benign 0.00
R8099:Olfr279 UTSW 15 98497813 missense probably benign 0.00
Z1177:Olfr279 UTSW 15 98498278 missense probably benign 0.00
Posted On2014-01-21