Incidental Mutation 'R9495:Or6e1'
ID 717182
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R9495 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 54519353-54520382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54520137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 72 (T72A)
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: T72A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054361
Gene: ENSMUSG00000048153
AA Change: T72A

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: T72A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T A 15: 79,019,842 (GRCm39) D158V probably benign Het
Aadacl2fm1 T C 3: 59,840,114 (GRCm39) I62T possibly damaging Het
Acp5 G A 9: 22,038,483 (GRCm39) Q273* probably null Het
Apoa5 G C 9: 46,181,944 (GRCm39) R340P probably damaging Het
Atp2b1 T A 10: 98,835,660 (GRCm39) N468K probably damaging Het
Bltp3a A G 17: 28,112,414 (GRCm39) D1201G probably damaging Het
Bphl A T 13: 34,234,312 (GRCm39) I143L probably benign Het
Cd33 A T 7: 43,182,150 (GRCm39) H98Q probably benign Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cemip2 T A 19: 21,779,249 (GRCm39) V353D probably damaging Het
Cfap96 C T 8: 46,409,458 (GRCm39) S287N probably damaging Het
Colec10 A G 15: 54,325,761 (GRCm39) D197G probably damaging Het
Cpt1a T C 19: 3,433,795 (GRCm39) M759T probably benign Het
Ctc1 A G 11: 68,913,593 (GRCm39) Y165C probably damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dnah2 T C 11: 69,345,208 (GRCm39) D2667G possibly damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Erv3 C A 2: 131,697,975 (GRCm39) W128L possibly damaging Het
Fam186a A G 15: 99,844,766 (GRCm39) S493P unknown Het
Fbn1 A T 2: 125,160,984 (GRCm39) N2185K probably damaging Het
Figla A C 6: 85,997,689 (GRCm39) H139P probably benign Het
Gemin4 A G 11: 76,101,749 (GRCm39) L1004P probably damaging Het
Gm11937 T C 11: 99,500,646 (GRCm39) T124A unknown Het
Gm17669 G T 18: 67,695,682 (GRCm39) V76L probably benign Het
H2ac21 A G 3: 96,127,401 (GRCm39) E57G probably damaging Het
Hcls1 A T 16: 36,777,702 (GRCm39) M274L probably benign Het
Il17rc T C 6: 113,449,741 (GRCm39) S116P probably damaging Het
Krt79 G A 15: 101,840,288 (GRCm39) R303C probably damaging Het
Lamb2 C T 9: 108,358,006 (GRCm39) T149I probably damaging Het
Lrrc41 T A 4: 115,932,806 (GRCm39) probably null Het
Mga C A 2: 119,781,676 (GRCm39) T2234K possibly damaging Het
Mix23 A G 16: 35,892,491 (GRCm39) E12G probably benign Het
Muc6 T A 7: 141,237,398 (GRCm39) Q205L probably damaging Het
Nlrp9b A T 7: 19,760,462 (GRCm39) K624N possibly damaging Het
Or1o4 G T 17: 37,591,386 (GRCm39) probably benign Het
Or4d2 C T 11: 87,784,082 (GRCm39) V223M probably benign Het
Otud4 T C 8: 80,400,087 (GRCm39) S934P probably damaging Het
Pcdha12 G T 18: 37,155,526 (GRCm39) W748C probably damaging Het
Pdc T C 1: 150,208,919 (GRCm39) I134T probably damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pkn1 C T 8: 84,410,799 (GRCm39) R276Q possibly damaging Het
Plin3 C A 17: 56,587,824 (GRCm39) G297V probably benign Het
Podn C T 4: 107,876,106 (GRCm39) V517I probably benign Het
Pomk T C 8: 26,473,344 (GRCm39) D203G probably damaging Het
Ppil4 A G 10: 7,675,355 (GRCm39) D168G probably damaging Het
Ptgr2 T C 12: 84,354,647 (GRCm39) I276T probably benign Het
Ptk7 T A 17: 46,887,744 (GRCm39) I563F possibly damaging Het
Rbm12 G T 2: 155,939,738 (GRCm39) T178K unknown Het
Sctr T C 1: 119,959,403 (GRCm39) probably null Het
Sh2b1 GGGACC GGGACCGGCTCAGCCACGTGGACC 7: 126,066,744 (GRCm39) probably benign Het
Spata31e4 T A 13: 50,855,465 (GRCm39) S368T possibly damaging Het
Steap1 A T 5: 5,786,458 (GRCm39) D326E probably damaging Het
Stra6 G A 9: 58,059,175 (GRCm39) V513I probably benign Het
Tbx19 A G 1: 164,966,546 (GRCm39) S443P unknown Het
Tcea3 T A 4: 135,991,885 (GRCm39) C190S probably damaging Het
Tfr2 G A 5: 137,572,701 (GRCm39) V171I probably benign Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem129 A G 5: 33,815,122 (GRCm39) V17A probably benign Het
Tmem87b T C 2: 128,660,353 (GRCm39) L32P probably damaging Het
Tor1aip1 T A 1: 155,906,177 (GRCm39) D205V probably damaging Het
Trim33 T C 3: 103,239,074 (GRCm39) V684A probably benign Het
Triobp C T 15: 78,877,378 (GRCm39) R1637C probably damaging Het
Ulbp1 C A 10: 7,406,371 (GRCm39) M196I probably benign Het
Vash1 G A 12: 86,738,663 (GRCm39) G370E probably damaging Het
Vmn2r23 A G 6: 123,689,672 (GRCm39) T183A probably benign Het
Vta1 A G 10: 14,531,583 (GRCm39) I264T probably benign Het
Zcchc8 A T 5: 123,838,633 (GRCm39) M635K 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
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
R9666:Or6e1 UTSW 14 54,520,342 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-07-18