Incidental Mutation 'R0548:Or2a52'
ID 44967
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 038740-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R0548 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43143994-43144926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43144121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 43 (I43K)
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: I43K

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000058147
Gene: ENSMUSG00000071481
AA Change: I43K

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: I43K

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145490
Gene: ENSMUSG00000071481
AA Change: I43K

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 97% (62/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T G 8: 41,279,504 (GRCm39) C632G probably damaging Het
Adamtsl3 T C 7: 82,178,191 (GRCm39) probably null Het
Agfg1 A G 1: 82,864,152 (GRCm39) T447A probably damaging Het
Ankrd37 C T 8: 46,451,433 (GRCm39) probably null Het
Apob A T 12: 8,056,282 (GRCm39) D1555V probably damaging Het
Asxl3 T A 18: 22,654,849 (GRCm39) probably benign Het
Brca2 C A 5: 150,468,400 (GRCm39) D2242E probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Cdk5rap2 A T 4: 70,267,379 (GRCm39) probably null Het
Cox10 A T 11: 63,867,178 (GRCm39) Y273N probably damaging Het
Dcbld2 A T 16: 58,275,508 (GRCm39) D408V probably damaging Het
Enam A T 5: 88,650,964 (GRCm39) E824D probably damaging Het
Epm2aip1 T C 9: 111,102,409 (GRCm39) Y461H probably damaging Het
Fam72a T A 1: 131,461,599 (GRCm39) S95T probably damaging Het
Fiz1 A T 7: 5,012,167 (GRCm39) V117D possibly damaging Het
Gm10355 C T 3: 101,214,376 (GRCm39) noncoding transcript Het
Gm11595 A T 11: 99,662,967 (GRCm39) C238S unknown Het
Gm7589 T G 9: 59,053,439 (GRCm39) noncoding transcript Het
H6pd A T 4: 150,066,073 (GRCm39) V771E probably damaging Het
Htt T C 5: 35,028,090 (GRCm39) L1782P probably damaging Het
Il33 T C 19: 29,932,047 (GRCm39) S147P probably benign Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Lrp2 G A 2: 69,367,982 (GRCm39) probably benign Het
Maco1 T C 4: 134,533,971 (GRCm39) D550G probably damaging Het
Map1b T C 13: 99,568,191 (GRCm39) K1510R unknown Het
Marco T C 1: 120,419,767 (GRCm39) T187A probably benign Het
Mki67 A T 7: 135,298,637 (GRCm39) N2132K possibly damaging Het
Mki67 T A 7: 135,296,985 (GRCm39) K2683M probably damaging Het
Mmp15 T C 8: 96,098,979 (GRCm39) V602A probably damaging Het
Mphosph10 T A 7: 64,028,548 (GRCm39) M536L probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
N4bp2 G T 5: 65,965,496 (GRCm39) V1182L probably benign Het
Nlrc5 C A 8: 95,248,411 (GRCm39) F1715L probably null Het
Nsd2 T A 5: 34,050,882 (GRCm39) V1253E probably damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or4c120 C A 2: 89,000,992 (GRCm39) C188F probably damaging Het
Or8g18 A T 9: 39,149,667 (GRCm39) S18T probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pi4ka A T 16: 17,125,582 (GRCm39) N4K possibly damaging Het
Plxna4 A T 6: 32,134,950 (GRCm39) I1751N probably damaging Het
Postn C A 3: 54,274,997 (GRCm39) S122* probably null Het
Ppp4r4 A T 12: 103,579,074 (GRCm39) R762* probably null Het
Rrm1 G T 7: 102,116,274 (GRCm39) probably null Het
Rrp15 A G 1: 186,468,431 (GRCm39) V195A probably benign Het
Rtl1 T A 12: 109,558,089 (GRCm39) D1250V probably damaging Het
Rxrg T C 1: 167,458,788 (GRCm39) probably benign Het
Scn10a T C 9: 119,494,994 (GRCm39) K416E probably benign Het
Serping1 T C 2: 84,600,425 (GRCm39) probably benign Het
Slc12a6 T C 2: 112,166,269 (GRCm39) probably null Het
Smo A T 6: 29,759,585 (GRCm39) Q639L possibly damaging Het
Synrg T C 11: 83,873,014 (GRCm39) probably benign Het
Tars2 T C 3: 95,649,971 (GRCm39) D470G probably damaging Het
Tln1 T C 4: 43,542,709 (GRCm39) N1399S possibly damaging Het
Tmem131 A G 1: 36,877,119 (GRCm39) V240A probably damaging Het
Tmem232 G A 17: 65,689,615 (GRCm39) T500I probably benign Het
Toporsl G A 4: 52,612,140 (GRCm39) V678M possibly damaging Het
Vmn1r7 A T 6: 57,002,066 (GRCm39) F65I probably damaging Het
Wdfy4 C T 14: 32,764,578 (GRCm39) M2257I probably benign Het
Wdr20rt T A 12: 65,274,089 (GRCm39) D344E probably benign Het
Xirp2 C T 2: 67,344,758 (GRCm39) A2333V probably benign Het
Zfyve16 T C 13: 92,631,452 (GRCm39) K1381R probably benign Het
Zscan18 G T 7: 12,508,103 (GRCm39) P466T probably damaging 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
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
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'- TGGGCTTTCAGTCTCACATCACCAC -3'
(R):5'- GGACATGGCTGCCAAAATCAAGCAC -3'

Sequencing Primer
(F):5'- CTACACCAGCTCTCATATAGGAATGG -3'
(R):5'- GCCAAATACAAGAATGTCTGTGTG -3'
Posted On 2013-06-11