Incidental Mutation 'IGL01062:Olfr49'
ID52640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr49
Ensembl Gene ENSMUSG00000048153
Gene Nameolfactory receptor 49
SynonymsMOR118-1, IC6, GA_x6K02T2QVSB-39745261-39746202
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01062
Quality Score
Status
Chromosome14
Chromosomal Location54278253-54284939 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54282724 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 57 (M57K)
Ref Sequence ENSEMBL: ENSMUSP00000149840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059996] [ENSMUST00000216214]
Predicted Effect probably damaging
Transcript: ENSMUST00000059996
AA Change: M57K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054361
Gene: ENSMUSG00000048153
AA Change: M57K

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 4.4e-51 PFAM
Pfam:7tm_1 39 289 3.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216214
AA Change: M57K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T A 4: 41,511,433 E93D probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Amer3 A G 1: 34,586,739 K20E probably damaging Het
Arhgap31 A G 16: 38,601,456 L1416P probably damaging Het
Avpr1a G A 10: 122,449,529 C242Y probably damaging Het
Bclaf3 T C X: 159,553,419 Y281H probably benign Het
Cdc14a T A 3: 116,274,712 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cntn4 T C 6: 106,618,278 probably benign Het
Cyp3a44 T A 5: 145,794,339 D217V possibly damaging Het
Eprs A G 1: 185,379,615 E274G probably benign Het
Ercc6l2 G T 13: 63,847,454 Q354H probably null Het
Glb1l A T 1: 75,201,238 I392N probably damaging Het
Gm3173 T C 14: 4,514,887 probably null Het
Grasp A G 15: 101,228,896 probably benign Het
Hadh C T 3: 131,240,991 V219M probably damaging Het
Hspb9 A G 11: 100,713,935 H29R possibly damaging Het
Iqgap3 G T 3: 88,110,122 V240L probably benign Het
Jmjd1c T C 10: 67,226,715 S1616P probably damaging Het
Knl1 A G 2: 119,076,980 I1662V probably benign Het
Mapre3 A G 5: 30,864,896 I236V probably benign Het
Med17 T C 9: 15,279,621 E58G probably benign Het
Myh6 T C 14: 54,952,292 E1099G probably damaging Het
Myt1 T A 2: 181,797,729 V348D probably damaging Het
Nat10 A T 2: 103,743,048 I368N probably damaging Het
Nol6 T C 4: 41,118,205 I811V probably benign Het
Oas1d C A 5: 120,919,064 Y244* probably null Het
Osbpl1a A G 18: 12,905,075 V273A probably benign Het
Pigw T C 11: 84,877,943 R187G probably benign Het
Plekhg5 G A 4: 152,108,496 D603N probably damaging Het
Ptprk T C 10: 28,580,418 V1058A probably damaging Het
Robo4 G A 9: 37,406,000 S537N probably benign Het
Rptn T A 3: 93,397,182 F607L probably benign Het
Sall1 A G 8: 89,033,344 V44A probably damaging Het
Sh3bp4 C A 1: 89,143,960 Q177K probably benign Het
Srrt C A 5: 137,296,307 G779V probably damaging Het
Tex21 T C 12: 76,198,944 D526G probably benign Het
Tmem57 A T 4: 134,833,297 V125E probably damaging Het
Ttc37 T A 13: 76,155,462 L1225* probably null Het
Vmn1r10 A G 6: 57,113,836 S138G possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfp454 T C 11: 50,874,206 E22G probably benign Het
Zzef1 T A 11: 72,874,969 C1441S probably benign Het
Other mutations in Olfr49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Olfr49 APN 14 54281952 makesense probably null
PIT4581001:Olfr49 UTSW 14 54282538 missense probably damaging 1.00
R4095:Olfr49 UTSW 14 54282731 missense probably benign 0.38
R4673:Olfr49 UTSW 14 54282332 missense possibly damaging 0.71
R4795:Olfr49 UTSW 14 54282547 missense probably damaging 1.00
R4867:Olfr49 UTSW 14 54282629 missense probably benign 0.21
R5206:Olfr49 UTSW 14 54282698 missense probably benign
R5567:Olfr49 UTSW 14 54282368 missense probably damaging 1.00
R5570:Olfr49 UTSW 14 54282368 missense probably damaging 1.00
R5806:Olfr49 UTSW 14 54282807 missense probably benign
R5848:Olfr49 UTSW 14 54282565 missense possibly damaging 0.90
R7012:Olfr49 UTSW 14 54282217 missense possibly damaging 0.84
R7680:Olfr49 UTSW 14 54282380 missense probably damaging 0.98
R7787:Olfr49 UTSW 14 54282712 missense probably damaging 1.00
Posted On2013-06-21