Incidental Mutation 'R7012:Or6e1'
ID 545094
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 045113-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R7012 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54519353-54520382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54519674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 226 (I226T)
Ref Sequence ENSEMBL: ENSMUSP00000149840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059996] [ENSMUST00000216214]
AlphaFold Q9Z1V0
Predicted Effect possibly damaging
Transcript: ENSMUST00000059996
AA Change: I226T

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054361
Gene: ENSMUSG00000048153
AA Change: I226T

Pfam:7tm_4 29 306 4.4e-51 PFAM
Pfam:7tm_1 39 289 3.5e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216214
AA Change: I226T

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,769,431 (GRCm39) F686L probably benign Het
Adcy4 C T 14: 56,017,376 (GRCm39) V266I possibly damaging Het
Adgrb1 A G 15: 74,401,750 (GRCm39) T249A probably damaging Het
Adss1 A G 12: 112,600,670 (GRCm39) D213G probably benign Het
Ap1b1 T G 11: 4,980,963 (GRCm39) V453G probably damaging Het
Apold1 G A 6: 134,961,007 (GRCm39) G154R probably damaging Het
Birc5 A G 11: 117,740,262 (GRCm39) E29G probably benign Het
Clcn1 G A 6: 42,267,542 (GRCm39) R75H probably benign Het
Cngb1 T A 8: 95,984,583 (GRCm39) I868F possibly damaging Het
Cntn6 T A 6: 104,703,223 (GRCm39) V215E probably damaging Het
Cntn6 A G 6: 104,751,441 (GRCm39) I294V probably benign Het
Col6a2 A T 10: 76,450,511 (GRCm39) I140N possibly damaging Het
Cops5 A G 1: 10,100,890 (GRCm39) *147Q probably null Het
Dbr1 T A 9: 99,465,374 (GRCm39) Y317* probably null Het
Dock5 A C 14: 68,060,035 (GRCm39) V468G probably damaging Het
F13b A G 1: 139,444,096 (GRCm39) I477V probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Git1 T C 11: 77,390,606 (GRCm39) L114P probably damaging Het
Greb1l G T 18: 10,529,707 (GRCm39) probably null Het
Itih4 A G 14: 30,612,706 (GRCm39) N244S probably benign Het
Lin28a A G 4: 133,746,040 (GRCm39) S5P probably damaging Het
Lipt1 T C 1: 37,915,060 (GRCm39) I372T probably benign Het
Lysmd4 A G 7: 66,875,765 (GRCm39) T143A probably benign Het
Muc16 T C 9: 18,406,914 (GRCm39) probably null Het
Or13c9 A G 4: 52,936,193 (GRCm39) L30P probably damaging Het
Or2y1g A T 11: 49,171,823 (GRCm39) M283L probably benign Het
Or5t16 A T 2: 86,819,051 (GRCm39) H156Q possibly damaging Het
Pclo G A 5: 14,800,493 (GRCm39) G4438D unknown Het
Phlpp2 T A 8: 110,603,486 (GRCm39) F51I possibly damaging Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rxfp2 T C 5: 150,004,659 (GRCm39) V711A probably benign Het
Sbno2 A T 10: 79,905,352 (GRCm39) probably benign Het
Setd2 T A 9: 110,376,751 (GRCm39) S189T probably damaging Het
Sez6 A G 11: 77,868,621 (GRCm39) N965S probably benign Het
Sh3d19 A G 3: 85,992,320 (GRCm39) N116S probably benign Het
Slc43a3 T C 2: 84,777,313 (GRCm39) Y221H probably damaging Het
Slco1a6 T C 6: 142,032,287 (GRCm39) I613V probably benign Het
Stag3 T A 5: 138,295,871 (GRCm39) probably null Het
Ston1 T C 17: 88,943,413 (GRCm39) M273T probably damaging Het
Tbc1d32 A T 10: 56,100,820 (GRCm39) Y53N probably damaging Het
Tmem132b T A 5: 125,775,654 (GRCm39) L376Q probably damaging Het
Trim60 A G 8: 65,453,043 (GRCm39) V402A possibly damaging Het
Tssk5 A C 15: 76,257,745 (GRCm39) N178K probably damaging Het
Ttll9 T C 2: 152,844,982 (GRCm39) I450T possibly damaging Het
Tyw1 T G 5: 130,306,571 (GRCm39) probably null Het
Usp16 T C 16: 87,255,632 (GRCm39) probably null Het
Vmn2r97 T C 17: 19,167,756 (GRCm39) V670A probably damaging Het
Vmn2r98 A G 17: 19,286,530 (GRCm39) N343D probably benign Het
Zfp472 T G 17: 33,196,220 (GRCm39) N98K 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
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

Sequencing Primer
Posted On 2019-05-13