Incidental Mutation 'R4881:Or2y1e'
ID 375290
Institutional Source Beutler Lab
Gene Symbol Or2y1e
Ensembl Gene ENSMUSG00000101874
Gene Name olfactory receptor family 2 subfamily Y member 1E
Synonyms Olfr1391, GA_x6K02T2QP88-6107233-6106298, MOR256-27
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R4881 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 49218240-49219175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49219124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 295 (D295E)
Ref Sequence ENSEMBL: ENSMUSP00000150635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000187509] [ENSMUST00000215671]
AlphaFold Q8VFA4
Predicted Effect probably benign
Transcript: ENSMUST00000187509
AA Change: D295E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140343
Gene: ENSMUSG00000101874
AA Change: D295E

DomainStartEndE-ValueType
Pfam:7tm_1 41 289 2.2e-29 PFAM
Pfam:7tm_4 139 282 6.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215671
AA Change: D295E

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,877,472 (GRCm39) L1040P possibly damaging Het
Acot11 C A 4: 106,612,502 (GRCm39) probably null Het
Aldoart2 C A 12: 55,612,899 (GRCm39) Q275K probably damaging Het
Auts2 T C 5: 131,501,288 (GRCm39) T42A probably damaging Het
Bora C T 14: 99,299,003 (GRCm39) L187F probably damaging Het
Cbln4 A G 2: 171,884,059 (GRCm39) S54P possibly damaging Het
Celsr3 T A 9: 108,721,140 (GRCm39) L2661Q probably damaging Het
Cfap65 T C 1: 74,946,772 (GRCm39) T1313A probably damaging Het
Dbndd2 C A 2: 164,332,225 (GRCm39) probably benign Het
Dennd4a A G 9: 64,746,126 (GRCm39) D4G possibly damaging Het
Dmxl1 T A 18: 50,090,348 (GRCm39) probably benign Het
Dnah7b T C 1: 46,240,478 (GRCm39) C1532R probably damaging Het
Erbb3 A T 10: 128,412,816 (GRCm39) H591Q probably benign Het
Exosc4 T C 15: 76,213,770 (GRCm39) L198P probably damaging Het
F2r A T 13: 95,754,837 (GRCm39) C16S possibly damaging Het
Gtf2h4 A T 17: 35,981,125 (GRCm39) I234N possibly damaging Het
Ift27 A T 15: 78,049,448 (GRCm39) V84D probably damaging Het
Ints10 C T 8: 69,263,256 (GRCm39) A389V probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Klrc2 T A 6: 129,637,471 (GRCm39) T17S possibly damaging Het
Matr3 T A 18: 35,705,428 (GRCm39) S118T probably damaging Het
Mfsd6l C T 11: 68,448,748 (GRCm39) A533V probably benign Het
Msh3 A G 13: 92,402,549 (GRCm39) probably benign Het
Myo5c A G 9: 75,191,434 (GRCm39) M1103V probably benign Het
Niban2 C A 2: 32,812,590 (GRCm39) Y446* probably null Het
Or5e1 T C 7: 108,354,612 (GRCm39) L183P probably damaging Het
Or6z3 A T 7: 6,463,753 (GRCm39) M82L probably benign Het
Osbpl3 A T 6: 50,329,764 (GRCm39) D88E possibly damaging Het
Pou1f1 C T 16: 65,328,728 (GRCm39) T149I probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Rcor1 A G 12: 111,063,986 (GRCm39) D95G probably damaging Het
Rttn T C 18: 89,119,809 (GRCm39) L1748P probably damaging Het
Slco2a1 A G 9: 102,963,031 (GRCm39) K629E possibly damaging Het
Smarcc1 A G 9: 109,964,696 (GRCm39) probably benign Het
Son A G 16: 91,472,397 (GRCm39) K360E probably benign Het
Stab1 A T 14: 30,865,629 (GRCm39) M1753K probably benign Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tmem63c A T 12: 87,133,192 (GRCm39) T736S possibly damaging Het
Tmpo G A 10: 90,998,503 (GRCm39) P428L possibly damaging Het
Tmprss11a G T 5: 86,570,432 (GRCm39) Q176K probably damaging Het
Trappc4 A G 9: 44,315,322 (GRCm39) S219P probably damaging Het
Vmn2r117 G T 17: 23,696,859 (GRCm39) P183T probably damaging Het
Vmn2r54 C T 7: 12,363,598 (GRCm39) V432I probably benign Het
Vtcn1 G A 3: 100,799,909 (GRCm39) G257R probably benign Het
Yipf1 T A 4: 107,202,288 (GRCm39) M217K possibly damaging Het
Zfc3h1 T C 10: 115,236,647 (GRCm39) S374P probably benign Het
Zfp407 T C 18: 84,577,828 (GRCm39) H1095R probably benign Het
Zfp661 A T 2: 127,420,564 (GRCm39) H78Q probably benign Het
Zfp957 T C 14: 79,450,849 (GRCm39) T317A unknown Het
Zfyve9 T A 4: 108,584,688 (GRCm39) probably null Het
Other mutations in Or2y1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Or2y1e APN 11 49,218,958 (GRCm39) missense probably damaging 1.00
IGL02171:Or2y1e APN 11 49,218,862 (GRCm39) missense possibly damaging 0.69
IGL03184:Or2y1e APN 11 49,218,568 (GRCm39) missense probably damaging 0.97
R0471:Or2y1e UTSW 11 49,218,744 (GRCm39) missense probably damaging 1.00
R0613:Or2y1e UTSW 11 49,218,575 (GRCm39) missense possibly damaging 0.81
R0616:Or2y1e UTSW 11 49,218,583 (GRCm39) missense probably damaging 1.00
R0825:Or2y1e UTSW 11 49,218,509 (GRCm39) missense probably benign 0.00
R1613:Or2y1e UTSW 11 49,218,520 (GRCm39) missense probably damaging 1.00
R3429:Or2y1e UTSW 11 49,218,868 (GRCm39) missense probably benign 0.00
R3727:Or2y1e UTSW 11 49,218,622 (GRCm39) missense probably benign 0.01
R4256:Or2y1e UTSW 11 49,218,304 (GRCm39) missense probably benign 0.20
R4459:Or2y1e UTSW 11 49,218,703 (GRCm39) missense probably damaging 1.00
R4552:Or2y1e UTSW 11 49,218,777 (GRCm39) missense probably benign 0.00
R4811:Or2y1e UTSW 11 49,218,575 (GRCm39) missense possibly damaging 0.81
R5838:Or2y1e UTSW 11 49,218,760 (GRCm39) missense probably damaging 0.99
R6804:Or2y1e UTSW 11 49,218,808 (GRCm39) missense probably benign 0.16
R6809:Or2y1e UTSW 11 49,218,687 (GRCm39) missense probably benign 0.00
R7763:Or2y1e UTSW 11 49,218,498 (GRCm39) missense probably benign 0.00
R7765:Or2y1e UTSW 11 49,218,571 (GRCm39) missense probably damaging 1.00
R7783:Or2y1e UTSW 11 49,219,029 (GRCm39) missense probably benign 0.00
R9050:Or2y1e UTSW 11 49,218,930 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- ACTGAAGGTCAAGTCAACATCTG -3'
(R):5'- CGTCTTCACAAGCCAAGAAG -3'

Sequencing Primer
(F):5'- GTCAAGTCAACATCTGGTCGCAG -3'
(R):5'- GGATTGTTTCCTAGAGAACCCTG -3'
Posted On 2016-03-17