Incidental Mutation 'R6762:Or52ae7'
ID 531742
Institutional Source Beutler Lab
Gene Symbol Or52ae7
Ensembl Gene ENSMUSG00000073948
Gene Name olfactory receptor family 52 subfamily AE member 7
Synonyms MOR26-3, GA_x6K02T2PBJ9-6191595-6192545, Olfr608
MMRRC Submission 044878-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6762 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103119248-103120198 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 103119596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 117 (V117L)
Ref Sequence ENSEMBL: ENSMUSP00000150595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000213546]
AlphaFold E9Q564
Predicted Effect probably benign
Transcript: ENSMUST00000213546
AA Change: V117L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,867 (GRCm39) Y27H probably benign Het
Angptl3 T A 4: 98,925,654 (GRCm39) S327T possibly damaging Het
Arl6ip4 GGAAGAAGAAGAAGAAGAA GGAAGAAGAAGAAGAAGAAGAA 5: 124,255,113 (GRCm39) probably benign Het
Cyp2s1 A T 7: 25,507,495 (GRCm39) L318H probably damaging Het
Dnah14 T C 1: 181,584,824 (GRCm39) L3185P probably damaging Het
Dnah7b T C 1: 46,263,902 (GRCm39) V2128A probably benign Het
Ehhadh A T 16: 21,581,209 (GRCm39) F594L probably benign Het
En2 A G 5: 28,375,351 (GRCm39) N298S possibly damaging Het
Epha5 T A 5: 84,479,585 (GRCm39) N140Y probably damaging Het
Fam151b C T 13: 92,604,558 (GRCm39) V144I possibly damaging Het
Fanca C A 8: 123,998,042 (GRCm39) A1215S probably benign Het
Fancd2 T A 6: 113,562,977 (GRCm39) probably null Het
Fat2 T C 11: 55,144,308 (GRCm39) probably null Het
Gm4513 T C 7: 20,328,118 (GRCm39) N31S probably benign Het
Hspg2 A T 4: 137,279,114 (GRCm39) I3066F possibly damaging Het
Krt10 T C 11: 99,277,883 (GRCm39) T355A possibly damaging Het
Lims1 C A 10: 58,248,367 (GRCm39) H275N probably damaging Het
Map3k19 C T 1: 127,775,001 (GRCm39) G112D probably damaging Het
Mdn1 T A 4: 32,676,786 (GRCm39) N619K possibly damaging Het
Mtor A G 4: 148,622,938 (GRCm39) T1977A possibly damaging Het
Nos2 T G 11: 78,850,574 (GRCm39) L1144R possibly damaging Het
Or6c68 G A 10: 129,158,125 (GRCm39) C211Y probably damaging Het
Or8k38 A T 2: 86,488,188 (GRCm39) F205I probably benign Het
Pals2 T A 6: 50,157,418 (GRCm39) probably null Het
Pcdhga9 C A 18: 37,870,321 (GRCm39) S50Y probably damaging Het
Pfn4 T A 12: 4,825,487 (GRCm39) M108K probably damaging Het
Prep T C 10: 45,024,219 (GRCm39) probably null Het
Qtrt1 T A 9: 21,323,378 (GRCm39) H76Q probably damaging Het
Rpa1 T A 11: 75,231,171 (GRCm39) S73C possibly damaging Het
Senp5 A G 16: 31,808,702 (GRCm39) V157A probably damaging Het
Snapc3 T C 4: 83,353,495 (GRCm39) L178P probably damaging Het
Sptbn4 A G 7: 27,093,633 (GRCm39) F1340L probably damaging Het
Srd5a3 T A 5: 76,301,398 (GRCm39) I85K probably benign Het
Taar2 C T 10: 23,817,300 (GRCm39) T280M probably damaging Het
Tgfb3 T C 12: 86,116,237 (GRCm39) D177G probably benign Het
Tpt1 A G 14: 76,083,821 (GRCm39) D94G probably benign Het
Trpm4 A G 7: 44,954,240 (GRCm39) probably benign Het
Trpv4 C T 5: 114,763,171 (GRCm39) R746H probably benign Het
Txndc2 T C 17: 65,945,967 (GRCm39) D70G probably damaging Het
Ugcg T A 4: 59,219,530 (GRCm39) I289N possibly damaging Het
Vmn2r2 C G 3: 64,041,870 (GRCm39) D282H probably damaging Het
Vmn2r50 A T 7: 9,787,010 (GRCm39) N32K probably benign Het
Wdpcp C T 11: 21,671,244 (GRCm39) T495I probably benign Het
Zfp961 T A 8: 72,719,958 (GRCm39) C51S possibly damaging Het
Zxdc C T 6: 90,359,165 (GRCm39) A599V probably benign Het
Other mutations in Or52ae7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01735:Or52ae7 APN 7 103,119,530 (GRCm39) missense probably damaging 1.00
IGL02428:Or52ae7 APN 7 103,119,590 (GRCm39) missense probably benign 0.03
IGL02832:Or52ae7 APN 7 103,119,905 (GRCm39) missense probably benign 0.00
R0546:Or52ae7 UTSW 7 103,119,907 (GRCm39) missense possibly damaging 0.65
R1518:Or52ae7 UTSW 7 103,119,249 (GRCm39) start codon destroyed probably null 0.98
R1696:Or52ae7 UTSW 7 103,119,384 (GRCm39) missense probably benign 0.18
R1735:Or52ae7 UTSW 7 103,119,353 (GRCm39) missense possibly damaging 0.83
R2927:Or52ae7 UTSW 7 103,120,089 (GRCm39) missense probably damaging 1.00
R3856:Or52ae7 UTSW 7 103,119,867 (GRCm39) missense probably damaging 1.00
R4374:Or52ae7 UTSW 7 103,119,278 (GRCm39) missense probably damaging 0.97
R4375:Or52ae7 UTSW 7 103,119,278 (GRCm39) missense probably damaging 0.97
R4377:Or52ae7 UTSW 7 103,119,278 (GRCm39) missense probably damaging 0.97
R5059:Or52ae7 UTSW 7 103,119,488 (GRCm39) nonsense probably null
R5174:Or52ae7 UTSW 7 103,119,610 (GRCm39) missense probably benign 0.14
R5579:Or52ae7 UTSW 7 103,120,121 (GRCm39) missense probably damaging 1.00
R7888:Or52ae7 UTSW 7 103,120,006 (GRCm39) nonsense probably null
R7980:Or52ae7 UTSW 7 103,119,504 (GRCm39) missense probably damaging 1.00
R8150:Or52ae7 UTSW 7 103,119,459 (GRCm39) missense probably damaging 1.00
R8966:Or52ae7 UTSW 7 103,119,524 (GRCm39) missense probably benign 0.07
R9369:Or52ae7 UTSW 7 103,119,555 (GRCm39) missense probably benign 0.14
R9683:Or52ae7 UTSW 7 103,119,157 (GRCm39) start gained probably benign
R9713:Or52ae7 UTSW 7 103,119,914 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-08-29