Incidental Mutation 'IGL01768:Or2y1e'
ID 153990
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01768
Quality Score
Status
Chromosome 11
Chromosomal Location 49218240-49219175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49218958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 240 (C240Y)
Ref Sequence ENSEMBL: ENSMUSP00000150635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000187509] [ENSMUST00000215671]
AlphaFold Q8VFA4
Predicted Effect unknown
Transcript: ENSMUST00000053387
AA Change: C240Y

PolyPhen 2 Score 0.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052092
Gene: ENSMUSG00000096909
AA Change: C240Y

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: C240Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140343
Gene: ENSMUSG00000101874
AA Change: C240Y

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: C240Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm3 T C 16: 17,324,141 (GRCm39) V567A possibly damaging Het
Arnt T C 3: 95,398,327 (GRCm39) probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Capn5 C T 7: 97,774,480 (GRCm39) R570H probably damaging Het
Cdh9 A T 15: 16,778,311 (GRCm39) D42V possibly damaging Het
Cdk17 T C 10: 93,044,123 (GRCm39) S21P probably damaging Het
Cdkl3 T A 11: 51,916,744 (GRCm39) F291I probably damaging Het
Cfap210 A T 2: 69,612,471 (GRCm39) probably benign Het
Clmn T C 12: 104,747,978 (GRCm39) E523G probably damaging Het
Cyp4f14 A T 17: 33,126,976 (GRCm39) I318N probably damaging Het
Daam1 T A 12: 72,036,659 (GRCm39) F1068L probably benign Het
Ext2 A G 2: 93,621,455 (GRCm39) probably benign Het
F5 T A 1: 164,003,914 (GRCm39) F236L probably benign Het
Fat2 A G 11: 55,153,394 (GRCm39) V3606A probably damaging Het
Gpam G A 19: 55,075,952 (GRCm39) T220M probably benign Het
Hyal1 C A 9: 107,456,338 (GRCm39) L342I probably damaging Het
Ilvbl C A 10: 78,419,127 (GRCm39) P459T possibly damaging Het
Itga5 A G 15: 103,259,997 (GRCm39) Y632H probably benign Het
Jkampl A T 6: 73,445,899 (GRCm39) L217M possibly damaging Het
Krt73 T C 15: 101,707,291 (GRCm39) D299G probably benign Het
Lcp1 T C 14: 75,461,573 (GRCm39) V522A probably benign Het
Lmo3 A G 6: 138,393,495 (GRCm39) C53R probably damaging Het
Nsun7 T C 5: 66,436,043 (GRCm39) V305A probably benign Het
Oprm1 T C 10: 6,779,186 (GRCm39) S196P probably damaging Het
Or4z4 A T 19: 12,076,403 (GRCm39) I200N probably damaging Het
Or7e168 G A 9: 19,720,456 (GRCm39) V281M possibly damaging Het
Ovgp1 T C 3: 105,888,667 (GRCm39) probably null Het
Pcdhb20 T C 18: 37,639,768 (GRCm39) F765L possibly damaging Het
Ppp4r4 T C 12: 103,547,664 (GRCm39) V3A probably benign Het
Ruvbl1 A G 6: 88,474,253 (GRCm39) I419V probably benign Het
Scara5 T A 14: 65,927,224 (GRCm39) C40* probably null Het
Siglec1 T C 2: 130,916,314 (GRCm39) Q1212R probably benign Het
Slc31a1 G A 4: 62,306,273 (GRCm39) probably null Het
Sparc G T 11: 55,296,069 (GRCm39) N87K probably damaging Het
Tcf12 T C 9: 71,776,278 (GRCm39) probably null Het
Timm44 A T 8: 4,316,860 (GRCm39) F258I probably benign Het
Tm2d2 G T 8: 25,508,095 (GRCm39) V80L possibly damaging Het
Tpr A G 1: 150,320,199 (GRCm39) D2249G possibly damaging Het
Trim50 G T 5: 135,392,736 (GRCm39) G217V possibly damaging Het
Ugcg T C 4: 59,217,216 (GRCm39) probably null Het
Vmn2r107 A T 17: 20,565,868 (GRCm39) H61L probably benign Het
Zfp84 A G 7: 29,476,091 (GRCm39) H261R probably benign Het
Zswim2 A T 2: 83,748,301 (GRCm39) M293K probably benign Het
Other mutations in Or2y1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-02-04