Incidental Mutation 'R2257:Or52e7'
ID 243460
Institutional Source Beutler Lab
Gene Symbol Or52e7
Ensembl Gene ENSMUSG00000073915
Gene Name olfactory receptor family 52 subfamily E member 7
Synonyms GA_x6K02T2PBJ9-7664016-7664969, MOR32-1, Olfr676
MMRRC Submission 040257-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R2257 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104680774-104685360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104685026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 207 (Y207C)
Ref Sequence ENSEMBL: ENSMUSP00000151474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098162] [ENSMUST00000219602]
AlphaFold Q8VGZ9
Predicted Effect probably benign
Transcript: ENSMUST00000098162
AA Change: Y207C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000095765
Gene: ENSMUSG00000073915
AA Change: Y207C

DomainStartEndE-ValueType
Pfam:7tm_4 41 317 3e-113 PFAM
Pfam:7TM_GPCR_Srsx 45 316 4.5e-7 PFAM
Pfam:7tm_1 51 301 1.5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215533
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219042
Predicted Effect probably benign
Transcript: ENSMUST00000219602
AA Change: Y207C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 96% (70/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik A T X: 69,438,012 (GRCm39) W94R probably damaging Het
Abcc3 C T 11: 94,254,420 (GRCm39) V693M probably damaging Het
Acp7 A C 7: 28,313,838 (GRCm39) W399G probably damaging Het
Ap1s1 T C 5: 137,070,633 (GRCm39) Y94C possibly damaging Het
Arhgap32 T C 9: 32,158,793 (GRCm39) I186T probably damaging Het
Atg4a A G X: 139,890,984 (GRCm39) I91V probably benign Het
Atp7b T G 8: 22,488,282 (GRCm39) T1102P probably damaging Het
Cabs1 T C 5: 88,128,074 (GRCm39) S242P probably damaging Het
Cass4 T C 2: 172,269,390 (GRCm39) F493L probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cdk14 T A 5: 4,938,924 (GRCm39) M433L probably benign Het
Cep162 C A 9: 87,088,967 (GRCm39) D972Y probably damaging Het
Cfap100 C G 6: 90,390,802 (GRCm39) R184P possibly damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clasrp A G 7: 19,320,510 (GRCm39) probably benign Het
Copb1 T A 7: 113,853,110 (GRCm39) D29V possibly damaging Het
Cyp2b9 G A 7: 25,873,030 (GRCm39) probably null Het
Dhx36 C T 3: 62,385,064 (GRCm39) G683S probably damaging Het
Dnaaf11 T A 15: 66,309,436 (GRCm39) probably benign Het
Dnah10 T A 5: 124,838,301 (GRCm39) I1110N probably damaging Het
Dnajc3 C G 14: 119,210,114 (GRCm39) P322A probably benign Het
Eml4 A G 17: 83,785,189 (GRCm39) T785A probably damaging Het
Fam228a T C 12: 4,787,775 (GRCm39) probably benign Het
Fam83e A T 7: 45,378,193 (GRCm39) K406* probably null Het
Fam83e A T 7: 45,378,194 (GRCm39) K406M possibly damaging Het
Fam90a1a T A 8: 22,453,533 (GRCm39) L296Q possibly damaging Het
Fat1 A G 8: 45,403,408 (GRCm39) Y53C probably damaging Het
Fcrl2 T C 3: 87,166,928 (GRCm39) I22V probably damaging Het
Fryl T A 5: 73,230,187 (GRCm39) N1657Y possibly damaging Het
Greb1l A G 18: 10,503,307 (GRCm39) M453V possibly damaging Het
Grm8 A T 6: 27,760,224 (GRCm39) C369S probably damaging Het
Hdc G A 2: 126,458,000 (GRCm39) probably null Het
Hsf3 A T X: 95,363,928 (GRCm39) L191* probably null Het
Iqca1l C T 5: 24,757,038 (GRCm39) probably benign Het
Kif4 A T X: 99,769,737 (GRCm39) N1126Y probably benign Het
Lat2 T C 5: 134,631,481 (GRCm39) D191G probably damaging Het
Lipt2 C T 7: 99,808,601 (GRCm39) T38I probably benign Het
Lmo7 T C 14: 102,137,566 (GRCm39) L634P probably damaging Het
Magea2 A T X: 153,810,855 (GRCm39) L243Q probably damaging Het
Mctp2 A G 7: 71,835,568 (GRCm39) L543P probably damaging Het
Mgat4a T C 1: 37,529,394 (GRCm39) N24D probably benign Het
Mical3 A T 6: 121,010,696 (GRCm39) S429T possibly damaging Het
Mrps35 A G 6: 146,972,125 (GRCm39) E256G possibly damaging Het
Mybbp1a T A 11: 72,337,021 (GRCm39) S586T probably benign Het
Myo1e G A 9: 70,285,655 (GRCm39) probably null Het
Nob1 A G 8: 108,143,729 (GRCm39) probably benign Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Nphs1 A T 7: 30,167,417 (GRCm39) I782F possibly damaging Het
Numa1 A G 7: 101,649,998 (GRCm39) E1243G probably damaging Het
Or7g27 A G 9: 19,249,789 (GRCm39) E11G probably benign Het
Padi4 G A 4: 140,487,251 (GRCm39) T217I possibly damaging Het
Pias3 C T 3: 96,606,962 (GRCm39) T75I probably benign Het
Ppp1r37 G T 7: 19,295,943 (GRCm39) probably benign Het
Prrc2a G A 17: 35,380,044 (GRCm39) P185L unknown Het
Prss57 C T 10: 79,623,204 (GRCm39) C81Y probably damaging Het
Psen1 C T 12: 83,761,594 (GRCm39) S132L probably damaging Het
Ranbp6 A G 19: 29,788,949 (GRCm39) S468P possibly damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc2a9 T C 5: 38,610,542 (GRCm39) T86A probably damaging Het
Slco1a6 A T 6: 142,036,742 (GRCm39) M555K probably benign Het
Thoc1 C A 18: 9,993,466 (GRCm39) D608E possibly damaging Het
Tmem121b A T 6: 120,469,030 (GRCm39) Y562* probably null Het
Tmem121b A G 6: 120,469,032 (GRCm39) Y562H probably damaging Het
Tmprss7 A T 16: 45,506,696 (GRCm39) M122K possibly damaging Het
Tmub1 C A 5: 24,651,922 (GRCm39) G14V possibly damaging Het
Uap1 A T 1: 169,986,312 (GRCm39) probably benign Het
Ugdh A T 5: 65,574,458 (GRCm39) probably benign Het
Vmn2r59 A T 7: 41,661,669 (GRCm39) C715* probably null Het
Vps13a G A 19: 16,659,538 (GRCm39) T1663I possibly damaging Het
Vps13c A C 9: 67,860,228 (GRCm39) I2815L possibly damaging Het
Zc3h3 G T 15: 75,711,415 (GRCm39) Q349K possibly damaging Het
Other mutations in Or52e7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02034:Or52e7 APN 7 104,684,597 (GRCm39) missense probably benign
IGL02244:Or52e7 APN 7 104,685,152 (GRCm39) missense probably damaging 1.00
IGL03493:Or52e7 APN 7 104,685,151 (GRCm39) missense probably damaging 1.00
R1181:Or52e7 UTSW 7 104,685,021 (GRCm39) missense probably damaging 1.00
R1223:Or52e7 UTSW 7 104,684,773 (GRCm39) missense probably benign 0.01
R1460:Or52e7 UTSW 7 104,684,915 (GRCm39) missense possibly damaging 0.80
R1768:Or52e7 UTSW 7 104,685,157 (GRCm39) missense probably benign 0.00
R2256:Or52e7 UTSW 7 104,685,026 (GRCm39) missense probably benign 0.00
R3846:Or52e7 UTSW 7 104,684,896 (GRCm39) missense probably benign 0.40
R4486:Or52e7 UTSW 7 104,684,510 (GRCm39) missense probably benign 0.00
R4488:Or52e7 UTSW 7 104,684,510 (GRCm39) missense probably benign 0.00
R4489:Or52e7 UTSW 7 104,684,510 (GRCm39) missense probably benign 0.00
R4598:Or52e7 UTSW 7 104,685,280 (GRCm39) missense probably benign 0.19
R4599:Or52e7 UTSW 7 104,685,280 (GRCm39) missense probably benign 0.00
R4701:Or52e7 UTSW 7 104,684,798 (GRCm39) missense probably damaging 1.00
R4855:Or52e7 UTSW 7 104,684,858 (GRCm39) missense probably damaging 0.99
R5083:Or52e7 UTSW 7 104,684,618 (GRCm39) missense probably damaging 1.00
R5743:Or52e7 UTSW 7 104,685,363 (GRCm39) splice site probably null
R5798:Or52e7 UTSW 7 104,685,344 (GRCm39) missense probably benign 0.00
R6279:Or52e7 UTSW 7 104,684,878 (GRCm39) missense probably benign 0.25
R6300:Or52e7 UTSW 7 104,684,878 (GRCm39) missense probably benign 0.25
R7400:Or52e7 UTSW 7 104,684,417 (GRCm39) missense probably benign
R7672:Or52e7 UTSW 7 104,684,750 (GRCm39) missense probably damaging 1.00
R7698:Or52e7 UTSW 7 104,685,114 (GRCm39) missense probably benign 0.01
R8468:Or52e7 UTSW 7 104,684,953 (GRCm39) missense probably damaging 0.97
R9297:Or52e7 UTSW 7 104,684,830 (GRCm39) missense probably damaging 1.00
R9318:Or52e7 UTSW 7 104,684,830 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTCACCAACAGAATCATCGTTG -3'
(R):5'- GGGATGTTGTGACCAAAGCG -3'

Sequencing Primer
(F):5'- CCAACAGAATCATCGTTGTGATTGC -3'
(R):5'- CCAAAGCGGTGAGTAAGGAAG -3'
Posted On 2014-10-16