Incidental Mutation 'IGL01062:Or6e1'
ID 52640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6e1
Ensembl Gene ENSMUSG00000048153
Gene Name olfactory receptor family 6 subfamily E member 1
Synonyms Olfr49, IC6, GA_x6K02T2QVSB-39745261-39746202, MOR118-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL01062
Quality Score
Status
Chromosome 14
Chromosomal Location 54519353-54520382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54520181 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9Z1V0
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
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Amer3 A G 1: 34,625,820 (GRCm39) K20E probably damaging Het
Arhgap31 A G 16: 38,421,818 (GRCm39) L1416P probably damaging Het
Avpr1a G A 10: 122,285,434 (GRCm39) C242Y probably damaging Het
Bclaf3 T C X: 158,336,415 (GRCm39) Y281H probably benign Het
Cdc14a T A 3: 116,068,361 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cntn4 T C 6: 106,595,239 (GRCm39) probably benign Het
Cyp3a44 T A 5: 145,731,149 (GRCm39) D217V possibly damaging Het
Eprs1 A G 1: 185,111,812 (GRCm39) E274G probably benign Het
Ercc6l2 G T 13: 63,995,268 (GRCm39) Q354H probably null Het
Glb1l A T 1: 75,177,882 (GRCm39) I392N probably damaging Het
Gm3173 T C 14: 15,728,472 (GRCm39) probably null Het
Hadh C T 3: 131,034,640 (GRCm39) V219M probably damaging Het
Hspb9 A G 11: 100,604,761 (GRCm39) H29R possibly damaging Het
Iqgap3 G T 3: 88,017,429 (GRCm39) V240L probably benign Het
Jmjd1c T C 10: 67,062,494 (GRCm39) S1616P probably damaging Het
Knl1 A G 2: 118,907,461 (GRCm39) I1662V probably benign Het
Maco1 A T 4: 134,560,608 (GRCm39) V125E probably damaging Het
Mapre3 A G 5: 31,022,240 (GRCm39) I236V probably benign Het
Med17 T C 9: 15,190,917 (GRCm39) E58G probably benign Het
Myh6 T C 14: 55,189,749 (GRCm39) E1099G probably damaging Het
Myt1 T A 2: 181,439,522 (GRCm39) V348D probably damaging Het
Nat10 A T 2: 103,573,393 (GRCm39) I368N probably damaging Het
Nol6 T C 4: 41,118,205 (GRCm39) I811V probably benign Het
Oas1d C A 5: 121,057,127 (GRCm39) Y244* probably null Het
Osbpl1a A G 18: 13,038,132 (GRCm39) V273A probably benign Het
Pigw T C 11: 84,768,769 (GRCm39) R187G probably benign Het
Plekhg5 G A 4: 152,192,953 (GRCm39) D603N probably damaging Het
Ptprk T C 10: 28,456,414 (GRCm39) V1058A probably damaging Het
Robo4 G A 9: 37,317,296 (GRCm39) S537N probably benign Het
Rptn T A 3: 93,304,489 (GRCm39) F607L probably benign Het
Sall1 A G 8: 89,759,972 (GRCm39) V44A probably damaging Het
Sh3bp4 C A 1: 89,071,682 (GRCm39) Q177K probably benign Het
Skic3 T A 13: 76,303,581 (GRCm39) L1225* probably null Het
Spmip6 T A 4: 41,511,433 (GRCm39) E93D probably damaging Het
Srrt C A 5: 137,294,569 (GRCm39) G779V probably damaging Het
Tamalin A G 15: 101,126,777 (GRCm39) probably benign Het
Tex21 T C 12: 76,245,718 (GRCm39) D526G probably benign Het
Vmn1r10 A G 6: 57,090,821 (GRCm39) S138G possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp454 T C 11: 50,765,033 (GRCm39) E22G probably benign Het
Zzef1 T A 11: 72,765,795 (GRCm39) C1441S probably benign Het
Other mutations in Or6e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02197:Or6e1 APN 14 54,519,409 (GRCm39) makesense probably null
PIT4581001:Or6e1 UTSW 14 54,519,995 (GRCm39) missense probably damaging 1.00
R4095:Or6e1 UTSW 14 54,520,188 (GRCm39) missense probably benign 0.38
R4673:Or6e1 UTSW 14 54,519,789 (GRCm39) missense possibly damaging 0.71
R4795:Or6e1 UTSW 14 54,520,004 (GRCm39) missense probably damaging 1.00
R4867:Or6e1 UTSW 14 54,520,086 (GRCm39) missense probably benign 0.21
R5206:Or6e1 UTSW 14 54,520,155 (GRCm39) missense probably benign
R5567:Or6e1 UTSW 14 54,519,825 (GRCm39) missense probably damaging 1.00
R5570:Or6e1 UTSW 14 54,519,825 (GRCm39) missense probably damaging 1.00
R5806:Or6e1 UTSW 14 54,520,264 (GRCm39) missense probably benign
R5848:Or6e1 UTSW 14 54,520,022 (GRCm39) missense possibly damaging 0.90
R7012:Or6e1 UTSW 14 54,519,674 (GRCm39) missense possibly damaging 0.84
R7680:Or6e1 UTSW 14 54,519,837 (GRCm39) missense probably damaging 0.98
R7787:Or6e1 UTSW 14 54,520,169 (GRCm39) missense probably damaging 1.00
R8252:Or6e1 UTSW 14 54,519,704 (GRCm39) missense possibly damaging 0.95
R8819:Or6e1 UTSW 14 54,520,070 (GRCm39) missense probably benign 0.13
R8820:Or6e1 UTSW 14 54,520,070 (GRCm39) missense probably benign 0.13
R9057:Or6e1 UTSW 14 54,520,148 (GRCm39) missense probably damaging 1.00
R9171:Or6e1 UTSW 14 54,520,329 (GRCm39) missense probably benign 0.01
R9495:Or6e1 UTSW 14 54,520,137 (GRCm39) missense probably damaging 0.99
R9666:Or6e1 UTSW 14 54,520,342 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21