Incidental Mutation 'R9297:Or52e7'
ID 704661
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R9297 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104680774-104685360 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104684830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 142 (Y142H)
Ref Sequence ENSEMBL: ENSMUSP00000151474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098162] [ENSMUST00000219602]
AlphaFold Q8VGZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000098162
AA Change: Y142H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095765
Gene: ENSMUSG00000073915
AA Change: Y142H

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 probably damaging
Transcript: ENSMUST00000219602
AA Change: Y142H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (73/74)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 T C 16: 85,599,534 (GRCm39) Q22R probably benign Het
Adamts20 A G 15: 94,301,321 (GRCm39) S68P possibly damaging Het
Adcy6 A T 15: 98,491,466 (GRCm39) N1044K possibly damaging Het
Ak9 T G 10: 41,299,081 (GRCm39) M1594R unknown Het
Alkbh3 A G 2: 93,835,082 (GRCm39) S88P probably damaging Het
Angpt1 A G 15: 42,301,751 (GRCm39) I419T probably benign Het
Ankrd31 A T 13: 97,015,085 (GRCm39) L1451F probably benign Het
Ap1b1 T C 11: 4,990,157 (GRCm39) I860T probably benign Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Astn2 T C 4: 65,460,960 (GRCm39) D1058G possibly damaging Het
Atg3 A G 16: 44,987,371 (GRCm39) H48R possibly damaging Het
Bnc2 A C 4: 84,474,136 (GRCm39) probably benign Het
Cadps2 A G 6: 23,496,887 (GRCm39) Y453H probably benign Het
Catsperg1 T C 7: 28,891,085 (GRCm39) T653A probably benign Het
Ccdc102a A G 8: 95,638,120 (GRCm39) S249P possibly damaging Het
Ccdc125 A G 13: 100,832,920 (GRCm39) Y499C probably damaging Het
Ccdc141 A G 2: 76,842,028 (GRCm39) F1468L probably benign Het
Ccdc162 C A 10: 41,506,110 (GRCm39) M893I probably benign Het
Ccdc33 C A 9: 57,993,876 (GRCm39) W335L possibly damaging Het
Chn2 T A 6: 54,272,840 (GRCm39) Y355N probably damaging Het
Clec4g A G 8: 3,766,500 (GRCm39) M267T probably damaging Het
Cpa6 A T 1: 10,554,273 (GRCm39) D111E possibly damaging Het
Crlf3 A G 11: 79,950,031 (GRCm39) C200R probably damaging Het
Cyp4a10 T C 4: 115,378,375 (GRCm39) S164P probably damaging Het
Def6 A G 17: 28,436,714 (GRCm39) N126S probably damaging Het
Diaph1 G A 18: 38,022,828 (GRCm39) T782I probably benign Het
Dnah5 A C 15: 28,204,054 (GRCm39) probably benign Het
Eme1 A T 11: 94,541,614 (GRCm39) S69R probably benign Het
Fat3 A T 9: 15,908,996 (GRCm39) D2335E probably damaging Het
Fstl4 A G 11: 53,024,973 (GRCm39) K282E possibly damaging Het
Galnt7 T C 8: 57,995,555 (GRCm39) E380G probably damaging Het
Gm973 A T 1: 59,583,829 (GRCm39) Y204F probably damaging Het
Hace1 T A 10: 45,528,769 (GRCm39) S337T probably benign Het
Ipo8 C A 6: 148,703,076 (GRCm39) C416F possibly damaging Het
Kcnt2 T C 1: 140,352,933 (GRCm39) I214T probably damaging Het
Kdelr3 C A 15: 79,411,275 (GRCm39) L203I probably benign Het
Kif26b C T 1: 178,543,374 (GRCm39) Q336* probably null Het
Krt36 A G 11: 99,994,271 (GRCm39) Y269H probably damaging Het
Lamc1 G T 1: 153,127,746 (GRCm39) R386S probably damaging Het
Lipc T A 9: 70,727,736 (GRCm39) D122V probably damaging Het
Lrba A G 3: 86,280,873 (GRCm39) T1841A probably damaging Het
Lrit1 T A 14: 36,783,993 (GRCm39) D440E probably damaging Het
Map4 T C 9: 109,882,480 (GRCm39) I448T probably benign Het
Megf8 G T 7: 25,030,511 (GRCm39) C488F probably damaging Het
Mllt6 A G 11: 97,563,314 (GRCm39) E299G probably damaging Het
Mpst G T 15: 78,294,642 (GRCm39) V125L probably damaging Het
Msx1 G A 5: 37,981,756 (GRCm39) probably benign Het
Muc2 A G 7: 141,302,759 (GRCm39) E473G Het
Myo15a A G 11: 60,385,899 (GRCm39) R602G probably null Het
Myod1 A T 7: 46,026,356 (GRCm39) H87L probably damaging Het
Nid1 T C 13: 13,650,897 (GRCm39) V478A possibly damaging Het
Obscn A T 11: 58,898,359 (GRCm39) I6634N unknown Het
Or52ab7 T A 7: 102,978,583 (GRCm39) Y297N probably damaging Het
Or8k22 A G 2: 86,163,188 (GRCm39) Y171H probably benign Het
Pdgfrl C T 8: 41,391,268 (GRCm39) S66F probably damaging Het
Phf20 G A 2: 156,115,690 (GRCm39) R337H probably benign Het
Pkhd1 T A 1: 20,293,118 (GRCm39) Y2834F probably benign Het
Plekhg4 A C 8: 106,105,907 (GRCm39) E768A probably damaging Het
Prss37 A T 6: 40,491,909 (GRCm39) Y224N probably damaging Het
Ptprs A T 17: 56,765,257 (GRCm39) V9E probably damaging Het
Ptprt A G 2: 161,417,698 (GRCm39) L926S probably benign Het
Rgl1 G A 1: 152,400,454 (GRCm39) T649I possibly damaging Het
Serpinf1 A G 11: 75,307,251 (GRCm39) S29P probably damaging Het
Skint6 A T 4: 112,668,717 (GRCm39) D1119E probably benign Het
Snw1 T C 12: 87,505,674 (GRCm39) K255E probably damaging Het
Sox6 T C 7: 115,261,557 (GRCm39) I220V probably benign Het
Stimate T A 14: 30,588,639 (GRCm39) V122E probably damaging Het
Tas2r114 A G 6: 131,666,287 (GRCm39) I247T probably damaging Het
Tmem145 C T 7: 25,008,257 (GRCm39) T280M probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Zfp219 T C 14: 52,246,494 (GRCm39) H211R probably damaging Het
Zfp42 T C 8: 43,748,772 (GRCm39) N243S possibly damaging Het
Zkscan4 T A 13: 21,668,201 (GRCm39) S246R probably benign 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
R2257: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
R9318:Or52e7 UTSW 7 104,684,830 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGACCTTTCATCAACCCATG -3'
(R):5'- ATATTGGCTCTGATGCTGGCAC -3'

Sequencing Primer
(F):5'- GTGATTGACTTAAGTCTCTCTACTGC -3'
(R):5'- TGGCACAGGCTAGTCGC -3'
Posted On 2022-03-25