Incidental Mutation 'R5278:Or2a52'
ID 404044
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 042865-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5278 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43143994-43144926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43144655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 221 (L221P)
Ref Sequence ENSEMBL: ENSMUSP00000145490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060243] [ENSMUST00000205175] [ENSMUST00000216179]
AlphaFold Q8VEV1
Predicted Effect probably damaging
Transcript: ENSMUST00000060243
AA Change: L221P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058147
Gene: ENSMUSG00000071481
AA Change: L221P

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 7.5e-60 PFAM
Pfam:7tm_1 40 289 3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205175
AA Change: L221P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145490
Gene: ENSMUSG00000071481
AA Change: L221P

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 98% (50/51)
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
Acox3 C T 5: 35,745,500 (GRCm39) probably benign Het
Acvr2b G A 9: 119,261,555 (GRCm39) V383I probably damaging Het
Akap12 T C 10: 4,304,792 (GRCm39) M534T probably benign Het
Akp3 G A 1: 87,052,888 (GRCm39) E26K probably benign Het
Alcam A G 16: 52,094,638 (GRCm39) I371T probably benign Het
Ap2a1 T C 7: 44,552,203 (GRCm39) T794A probably benign Het
Apeh G A 9: 107,968,457 (GRCm39) P349S probably benign Het
Asb7 G T 7: 66,328,933 (GRCm39) Q36K possibly damaging Het
Asl A G 5: 130,047,672 (GRCm39) probably null Het
Atp13a2 T A 4: 140,728,129 (GRCm39) I574N probably damaging Het
Bcl2l2 T A 14: 55,122,251 (GRCm39) I138N probably damaging Het
Cacna1d C T 14: 30,074,881 (GRCm39) probably null Het
Ccdc9 C T 7: 16,012,306 (GRCm39) W1* probably null Het
Cdh18 T A 15: 23,474,244 (GRCm39) S705T probably benign Het
Ces5a A T 8: 94,252,266 (GRCm39) W209R probably damaging Het
Chpf2 T A 5: 24,793,088 (GRCm39) probably benign Het
Cul9 T A 17: 46,821,799 (GRCm39) H1892L probably damaging Het
Cxcl13 A G 5: 96,106,586 (GRCm39) T53A probably benign Het
Cyp2s1 T A 7: 25,505,309 (GRCm39) Y385F possibly damaging Het
Ddx46 A G 13: 55,823,851 (GRCm39) E915G probably damaging Het
Elovl3 G A 19: 46,122,540 (GRCm39) V113I probably benign Het
Fam53c A T 18: 34,895,671 (GRCm39) probably benign Het
Fbxw15 A T 9: 109,384,752 (GRCm39) F349L probably benign Het
Fuz C T 7: 44,545,701 (GRCm39) P9L probably benign Het
Igf1r C T 7: 67,843,166 (GRCm39) T759M possibly damaging Het
Impg2 G A 16: 56,041,880 (GRCm39) D175N probably benign Het
Jade1 G T 3: 41,543,444 (GRCm39) R43L possibly damaging Het
Kntc1 A G 5: 123,919,077 (GRCm39) E816G probably damaging Het
Mettl8 A T 2: 70,803,641 (GRCm39) D262E probably damaging Het
Mrpl48 A G 7: 100,201,790 (GRCm39) V156A probably damaging Het
Mst1 A C 9: 107,959,414 (GRCm39) K233N probably damaging Het
Myh13 A G 11: 67,225,390 (GRCm39) I252V probably benign Het
Nox4 T C 7: 87,021,134 (GRCm39) W449R probably damaging Het
Or2l5 A T 16: 19,334,128 (GRCm39) L86* probably null Het
Pank4 T C 4: 155,056,622 (GRCm39) L351P probably damaging Het
Pappa2 A T 1: 158,609,973 (GRCm39) probably null Het
Peg10 CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC CCATCAGGATGCACATCAGGATCC 6: 4,756,442 (GRCm39) probably benign Het
Polr3e T A 7: 120,522,184 (GRCm39) I10K possibly damaging Het
Prkdc T C 16: 15,532,838 (GRCm39) I1489T probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sh3pxd2b A G 11: 32,331,447 (GRCm39) D57G probably damaging Het
Shank2 G A 7: 143,622,612 (GRCm39) probably null Het
Slc15a4 A T 5: 127,694,033 (GRCm39) V134E probably damaging Het
Slc49a4 A G 16: 35,518,358 (GRCm39) S452P probably damaging Het
Stxbp5l G T 16: 37,007,016 (GRCm39) Q726K probably benign Het
Tesk2 T G 4: 116,663,133 (GRCm39) probably benign Het
Tex2 A G 11: 106,458,639 (GRCm39) S264P probably benign Het
Tnik A G 3: 28,704,209 (GRCm39) Q1003R probably damaging Het
Trip12 C T 1: 84,739,868 (GRCm39) R628H probably damaging Het
Vmn2r69 G A 7: 85,060,991 (GRCm39) H198Y probably benign 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
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
R8445:Or2a52 UTSW 6 43,144,231 (GRCm39) missense probably benign 0.36
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'- CACAATTCTCCTGCTAAGGTTGC -3'
(R):5'- TTCACCTGGGTGTTCCTCAG -3'

Sequencing Primer
(F):5'- CCCTTTTGTGGGCCCCAG -3'
(R):5'- TCCTCAGACTATAGATGAGGGGATTC -3'
Posted On 2016-07-22