Incidental Mutation 'R8445:Or2a52'
ID 654442
Institutional Source Beutler Lab
Gene Symbol Or2a52
Ensembl Gene ENSMUSG00000071481
Gene Name olfactory receptor family 2 subfamily A member 52
Synonyms Olfr437, GA_x6K02T2P3E9-4391088-4390156, MOR261-11
MMRRC Submission 067886-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R8445 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 43143994-43144926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43144231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 80 (M80V)
Ref Sequence ENSEMBL: ENSMUSP00000145490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060243] [ENSMUST00000205175] [ENSMUST00000216179]
AlphaFold Q8VEV1
Predicted Effect probably benign
Transcript: ENSMUST00000060243
AA Change: M80V

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000058147
Gene: ENSMUSG00000071481
AA Change: M80V

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 7.5e-60 PFAM
Pfam:7tm_1 40 289 3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205175
AA Change: M80V

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145490
Gene: ENSMUSG00000071481
AA Change: M80V

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 7.5e-60 PFAM
Pfam:7tm_1 40 289 3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216179
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 T G 9: 70,674,203 (GRCm39) S522A probably benign Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alg12 C T 15: 88,698,689 (GRCm39) R212Q probably benign Het
C330018D20Rik G A 18: 57,090,962 (GRCm39) P67L probably damaging Het
Col3a1 C T 1: 45,380,340 (GRCm39) R955* probably null Het
Cyp2j12 T A 4: 96,021,259 (GRCm39) I116F possibly damaging Het
Cyp4a10 T A 4: 115,382,791 (GRCm39) W331R probably damaging Het
Dmbt1 T A 7: 130,692,110 (GRCm39) Y959N unknown Het
Dytn T A 1: 63,686,673 (GRCm39) K332N probably benign Het
E130308A19Rik T A 4: 59,720,526 (GRCm39) V686D probably damaging Het
Epha8 T C 4: 136,659,600 (GRCm39) Y792C probably benign Het
Fam53c T C 18: 34,901,368 (GRCm39) V95A probably benign Het
Fbxl4 C A 4: 22,385,983 (GRCm39) Q197K probably benign Het
Fmod G A 1: 133,968,736 (GRCm39) V259I probably benign Het
Insrr T C 3: 87,720,891 (GRCm39) S1050P probably damaging Het
Itga4 A G 2: 79,112,125 (GRCm39) M347V probably benign Het
Kdm5d A G Y: 916,874 (GRCm39) E423G probably damaging Het
Klra7 A T 6: 130,204,078 (GRCm39) I147N possibly damaging Het
Lbx1 T A 19: 45,222,651 (GRCm39) K124I probably damaging Het
Map4k5 T A 12: 69,897,741 (GRCm39) H138L probably damaging Het
Mc3r A G 2: 172,091,237 (GRCm39) H153R probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Nfatc4 A C 14: 56,063,875 (GRCm39) I121L possibly damaging Het
Nipa1 A T 7: 55,629,466 (GRCm39) S216T probably benign Het
Nlrp4e A T 7: 23,039,965 (GRCm39) I763L probably benign Het
Nop2 A G 6: 125,111,567 (GRCm39) D100G probably benign Het
Or8b12i T A 9: 20,082,394 (GRCm39) I158L probably benign Het
Prelid3a A G 18: 67,606,848 (GRCm39) E80G probably damaging Het
Prl4a1 T C 13: 28,205,445 (GRCm39) S137P possibly damaging Het
Rbpms2 C T 9: 65,558,303 (GRCm39) A113V possibly damaging Het
Rph3a T C 5: 121,111,433 (GRCm39) E49G probably damaging Het
Shisa7 A T 7: 4,839,352 (GRCm39) M124K probably benign Het
Shprh C T 10: 11,057,313 (GRCm39) P1078S possibly damaging Het
Slc30a7 C T 3: 115,800,995 (GRCm39) probably benign Het
Smarca4 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 9: 21,612,239 (GRCm39) probably benign Het
Smg1 A C 7: 117,736,200 (GRCm39) N3563K possibly damaging Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
St6galnac6 A G 2: 32,498,532 (GRCm39) probably benign Het
Tcp11l1 C A 2: 104,512,278 (GRCm39) E451D probably benign Het
Tfpt G A 7: 3,623,928 (GRCm39) P160S probably damaging Het
Thbs4 C A 13: 92,927,349 (GRCm39) A47S probably benign Het
Trpm2 T C 10: 77,746,086 (GRCm39) D1482G probably damaging Het
Tspyl4 C T 10: 34,173,742 (GRCm39) A78V probably benign Het
Vmn2r26 A G 6: 124,002,995 (GRCm39) N135S probably damaging Het
Vmn2r87 A T 10: 130,313,335 (GRCm39) V477E probably damaging Het
Wdr89 T C 12: 75,679,636 (GRCm39) D206G probably damaging Het
Zfp623 C A 15: 75,819,402 (GRCm39) Y119* probably null Het
Zfp879 A G 11: 50,724,213 (GRCm39) M281T probably damaging Het
Zfp952 T G 17: 33,222,552 (GRCm39) F344V possibly damaging Het
Zgrf1 T C 3: 127,379,854 (GRCm39) probably null Het
Other mutations in Or2a52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Or2a52 APN 6 43,144,324 (GRCm39) missense probably damaging 1.00
IGL01618:Or2a52 APN 6 43,144,637 (GRCm39) missense probably damaging 0.97
IGL02426:Or2a52 APN 6 43,144,022 (GRCm39) missense probably benign 0.02
R0548:Or2a52 UTSW 6 43,144,121 (GRCm39) missense probably benign 0.43
R0856:Or2a52 UTSW 6 43,144,345 (GRCm39) missense probably damaging 1.00
R1590:Or2a52 UTSW 6 43,144,846 (GRCm39) missense probably damaging 1.00
R1902:Or2a52 UTSW 6 43,144,657 (GRCm39) splice site probably null
R3894:Or2a52 UTSW 6 43,144,192 (GRCm39) missense probably benign 0.23
R5083:Or2a52 UTSW 6 43,144,273 (GRCm39) missense probably benign 0.33
R5278:Or2a52 UTSW 6 43,144,655 (GRCm39) missense probably damaging 1.00
R6246:Or2a52 UTSW 6 43,144,436 (GRCm39) splice site probably null
R6781:Or2a52 UTSW 6 43,144,322 (GRCm39) missense probably damaging 1.00
R6807:Or2a52 UTSW 6 43,144,172 (GRCm39) missense probably damaging 1.00
R7253:Or2a52 UTSW 6 43,144,744 (GRCm39) missense probably damaging 1.00
R8891:Or2a52 UTSW 6 43,144,750 (GRCm39) missense probably benign 0.05
R9089:Or2a52 UTSW 6 43,144,917 (GRCm39) missense probably benign 0.03
R9529:Or2a52 UTSW 6 43,144,432 (GRCm39) missense possibly damaging 0.69
R9695:Or2a52 UTSW 6 43,144,510 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACAGACTTCATCCTCGTGGG -3'
(R):5'- AGGGCCACACATACTTTCC -3'

Sequencing Primer
(F):5'- CTCAGCGCAGGTATAGAAATGTTCC -3'
(R):5'- CCAACTCATGATGACAGTGTAGTG -3'
Posted On 2020-10-20