Incidental Mutation 'R0471:Or2y1e'
ID 46771
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
MMRRC Submission 038671-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R0471 (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 49218744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 169 (C169S)
Ref Sequence ENSEMBL: ENSMUSP00000150635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000187509] [ENSMUST00000215671]
AlphaFold Q8VFA4
Predicted Effect probably damaging
Transcript: ENSMUST00000053387
AA Change: C169S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052092
Gene: ENSMUSG00000096909
AA Change: C169S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 3.8e-45 PFAM
Pfam:7tm_1 41 289 7.7e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000187509
AA Change: C169S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140343
Gene: ENSMUSG00000101874
AA Change: C169S

DomainStartEndE-ValueType
Pfam:7tm_1 41 289 2.2e-29 PFAM
Pfam:7tm_4 139 282 6.1e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215671
AA Change: C169S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3832 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,075,891 (GRCm39) probably null Het
Adam33 C A 2: 130,896,399 (GRCm39) G437C probably damaging Het
Aldh1a1 T A 19: 20,579,377 (GRCm39) M1K probably null Het
Amotl2 C A 9: 102,597,718 (GRCm39) P126Q probably damaging Het
Ap1g1 T A 8: 110,580,275 (GRCm39) M576K possibly damaging Het
Apob C A 12: 8,040,406 (GRCm39) A581E probably damaging Het
Asb7 A T 7: 66,328,907 (GRCm39) D44E probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C9orf72 G A 4: 35,193,257 (GRCm39) T232I probably benign Het
Ccdc65 A T 15: 98,615,348 (GRCm39) H118L probably benign Het
Cdc25b A G 2: 131,039,204 (GRCm39) E523G probably damaging Het
Cdk11b A G 4: 155,731,999 (GRCm39) probably benign Het
Cilk1 G T 9: 78,062,799 (GRCm39) probably null Het
Clec1b A G 6: 129,378,570 (GRCm39) probably benign Het
Cntrl A G 2: 35,017,392 (GRCm39) T400A probably benign Het
Cpne4 T G 9: 104,899,481 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,419,985 (GRCm39) R249* probably null Het
Dock2 T C 11: 34,579,380 (GRCm39) I678V probably benign Het
Dqx1 C T 6: 83,036,407 (GRCm39) probably benign Het
Dsp A T 13: 38,377,326 (GRCm39) K1704* probably null Het
Eif2b2 T C 12: 85,266,957 (GRCm39) F121S probably benign Het
Ephx4 T C 5: 107,561,379 (GRCm39) V69A possibly damaging Het
Epn2 T C 11: 61,426,134 (GRCm39) Q281R probably damaging Het
Fgf3 A C 7: 144,396,547 (GRCm39) D187A probably damaging Het
Galnt18 C A 7: 111,378,506 (GRCm39) probably benign Het
Gm4871 C T 5: 144,968,402 (GRCm39) probably benign Het
Inpp4b T C 8: 82,768,528 (GRCm39) I679T possibly damaging Het
Itpkb A G 1: 180,245,820 (GRCm39) E779G probably damaging Het
Itsn1 G A 16: 91,696,477 (GRCm39) V27M probably damaging Het
Lrp2 C A 2: 69,355,578 (GRCm39) R422L probably damaging Het
Mmp25 G A 17: 23,858,858 (GRCm39) A231V possibly damaging Het
Mprip T C 11: 59,650,561 (GRCm39) S1422P probably damaging Het
Mro A T 18: 74,009,860 (GRCm39) Q176L probably benign Het
Mrpl12 A G 11: 120,379,229 (GRCm39) E192G probably damaging Het
Myo5b A T 18: 74,862,025 (GRCm39) probably benign Het
Ncam2 G T 16: 80,997,772 (GRCm39) probably benign Het
Nip7 T C 8: 107,783,949 (GRCm39) L63P probably damaging Het
Nsd3 T C 8: 26,138,450 (GRCm39) probably benign Het
Nup98 A T 7: 101,788,004 (GRCm39) V1022D probably benign Het
Or5d43 A G 2: 88,104,559 (GRCm39) V278A possibly damaging Het
Or5h22 A G 16: 58,894,633 (GRCm39) I270T probably benign Het
Or7g28 A T 9: 19,272,177 (GRCm39) L158* probably null Het
P4ha2 T C 11: 54,008,434 (GRCm39) Y214H possibly damaging Het
Pacrg A T 17: 10,795,407 (GRCm39) F184L possibly damaging Het
Parpbp T A 10: 87,929,569 (GRCm39) R426S probably damaging Het
Pcdhb5 T A 18: 37,454,359 (GRCm39) Y246* probably null Het
Pik3cg T A 12: 32,244,770 (GRCm39) T895S probably damaging Het
Prkch T C 12: 73,738,426 (GRCm39) Y178H probably benign Het
Rusc2 G T 4: 43,425,486 (GRCm39) R1197L probably damaging Het
Svep1 T C 4: 58,054,700 (GRCm39) E3296G possibly damaging Het
Svs3a A G 2: 164,131,801 (GRCm39) K123R probably benign Het
Sycp2l A G 13: 41,304,006 (GRCm39) probably null Het
Syne3 T C 12: 104,909,685 (GRCm39) H717R probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Trim24 T G 6: 37,892,130 (GRCm39) V151G possibly damaging Het
Trim33 T C 3: 103,234,217 (GRCm39) V56A possibly damaging Het
Trim67 C A 8: 125,521,397 (GRCm39) T253K probably benign Het
Trip12 T C 1: 84,703,928 (GRCm39) E698G probably damaging Het
Tspan14 T C 14: 40,637,353 (GRCm39) D145G probably damaging Het
Ushbp1 G A 8: 71,847,021 (GRCm39) Q204* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r75 G T 7: 85,814,721 (GRCm39) N257K probably benign Het
Washc4 T C 10: 83,394,598 (GRCm39) probably benign Het
Zc3h7b G A 15: 81,666,169 (GRCm39) D560N probably damaging Het
Zscan21 T C 5: 138,123,402 (GRCm39) V27A probably benign Het
Zzef1 A C 11: 72,813,937 (GRCm39) E2842A probably damaging 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
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
R4881:Or2y1e UTSW 11 49,219,124 (GRCm39) missense probably benign 0.43
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'- TGCTGCACAGGATCATACCATCAC -3'
(R):5'- GTTGACTTGACCTTCAGTACAGCCC -3'

Sequencing Primer
(F):5'- TACCATCACCTATGGAAGGTGTG -3'
(R):5'- TTCAGTACAGCCCTGGCAATG -3'
Posted On 2013-06-11