Incidental Mutation 'R5206:Or6e1'
ID 402045
Institutional Source Beutler Lab
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
MMRRC Submission 042781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R5206 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 54519353-54520382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54520155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 66 (M66L)
Ref Sequence ENSEMBL: ENSMUSP00000149840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059996] [ENSMUST00000216214]
AlphaFold Q9Z1V0
Predicted Effect probably benign
Transcript: ENSMUST00000059996
AA Change: M66L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054361
Gene: ENSMUSG00000048153
AA Change: M66L

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 4.4e-51 PFAM
Pfam:7tm_1 39 289 3.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216214
AA Change: M66L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,272 (GRCm39) E487G probably benign Het
2610021A01Rik A T 7: 41,276,009 (GRCm39) K571* probably null Het
A2m T C 6: 121,651,766 (GRCm39) V1278A probably damaging Het
Abcc2 T C 19: 43,806,589 (GRCm39) V801A probably damaging Het
Acod1 T A 14: 103,292,731 (GRCm39) D418E possibly damaging Het
Bsn G A 9: 107,982,572 (GRCm39) A3727V unknown Het
Cmah T G 13: 24,648,267 (GRCm39) F501V probably damaging Het
Csf2rb2 T A 15: 78,176,952 (GRCm39) I173L probably benign Het
Dnah12 T C 14: 26,491,942 (GRCm39) W1126R probably damaging Het
Dock5 G T 14: 68,000,633 (GRCm39) A1690E probably benign Het
Dop1b T C 16: 93,598,472 (GRCm39) L1879P probably damaging Het
Eif3j2 A T 18: 43,610,647 (GRCm39) D55E probably benign Het
Fam83f G A 15: 80,576,255 (GRCm39) G302D possibly damaging Het
Fus G A 7: 127,568,969 (GRCm39) G40D unknown Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Gxylt2 T C 6: 100,781,576 (GRCm39) V417A probably damaging Het
Hhipl1 G A 12: 108,278,437 (GRCm39) R255H probably damaging Het
Ints8 A T 4: 11,216,477 (GRCm39) I838N possibly damaging Het
Lama5 C A 2: 179,833,097 (GRCm39) C1579F probably damaging Het
Med13 C T 11: 86,210,705 (GRCm39) R479H probably damaging Het
Or51ag1 A T 7: 103,155,309 (GRCm39) Y281* probably null Het
Or5b113 G T 19: 13,342,429 (GRCm39) G146C possibly damaging Het
Or5k15 G T 16: 58,710,381 (GRCm39) N67K probably damaging Het
Or9g3 T A 2: 85,589,967 (GRCm39) Y251F probably benign Het
Pak6 A G 2: 118,523,784 (GRCm39) E313G probably benign Het
Pigs T A 11: 78,224,549 (GRCm39) Y145N probably damaging Het
Pla2g2f T A 4: 138,479,662 (GRCm39) D165V probably benign Het
Plbd1 C T 6: 136,618,154 (GRCm39) V133M probably benign Het
Ppp1r14bl C T 1: 23,141,183 (GRCm39) G44R probably benign Het
Ryr3 T C 2: 112,675,056 (GRCm39) Y1352C probably damaging Het
Scamp1 C T 13: 94,368,615 (GRCm39) R51H probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc2a2 G A 3: 28,762,756 (GRCm39) V100M probably damaging Het
Slc38a10 C G 11: 119,995,888 (GRCm39) A1062P probably damaging Het
Snai1 T C 2: 167,380,888 (GRCm39) I127T probably benign Het
Stat4 G A 1: 52,144,395 (GRCm39) G692D probably damaging Het
Stc1 A T 14: 69,269,048 (GRCm39) D72V probably damaging Het
Tmc1 T C 19: 20,804,024 (GRCm39) N351S probably damaging Het
Trim28 A G 7: 12,759,275 (GRCm39) I130V probably benign Het
Trim39 A G 17: 36,571,382 (GRCm39) Y459H probably damaging Het
Ugt1a6b C A 1: 88,035,170 (GRCm39) Y169* probably null Het
Vasp T C 7: 18,992,780 (GRCm39) probably benign Het
Vmn2r99 G T 17: 19,598,868 (GRCm39) G184V probably benign Het
Xrcc1 C T 7: 24,266,988 (GRCm39) T358I probably damaging Het
Zfp219 A G 14: 52,247,022 (GRCm39) V35A probably benign Het
Other mutations in Or6e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Or6e1 APN 14 54,520,181 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AATGGCCACATACCTGTCAAAG -3'
(R):5'- TTGTCCTCAGAGCTCACAGG -3'

Sequencing Primer
(F):5'- GTCAAAGGACATCACTGCCAGTAG -3'
(R):5'- AGCTCACAGGCTCTGATGCTC -3'
Posted On 2016-07-22