Incidental Mutation 'R1590:Or2a52'
ID 177801
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 039627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R1590 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43143994-43144926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43144846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 285 (N285D)
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: N285D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058147
Gene: ENSMUSG00000071481
AA Change: N285D

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: N285D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145490
Gene: ENSMUSG00000071481
AA Change: N285D

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 97% (69/71)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,322,370 (GRCm39) S95P probably damaging Het
Ankmy1 T C 1: 92,816,397 (GRCm39) Y239C probably damaging Het
Atp12a T C 14: 56,617,512 (GRCm39) S601P probably damaging Het
Atp1b3 T C 9: 96,225,402 (GRCm39) T89A probably benign Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Brme1 A T 8: 84,893,715 (GRCm39) Q294L probably benign Het
Btnl2 A T 17: 34,580,114 (GRCm39) I216F possibly damaging Het
Cabs1 A T 5: 88,127,490 (GRCm39) H47L probably damaging Het
Ccdc68 T A 18: 70,073,251 (GRCm39) D66E probably benign Het
Cdc42ep4 T C 11: 113,619,392 (GRCm39) D333G possibly damaging Het
Ckmt1 G A 2: 121,194,003 (GRCm39) D389N possibly damaging Het
Dact1 G T 12: 71,364,349 (GRCm39) V340F probably benign Het
Dnah2 T C 11: 69,412,024 (GRCm39) T246A probably benign Het
Dnah2 A G 11: 69,313,580 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Efcab14 A G 4: 115,613,746 (GRCm39) probably benign Het
Eprs1 A G 1: 185,133,707 (GRCm39) T795A probably damaging Het
Esp36 T A 17: 38,728,202 (GRCm39) E26D possibly damaging Het
Fpr-rs7 T C 17: 20,333,678 (GRCm39) T271A probably benign Het
Fsip2 A T 2: 82,813,131 (GRCm39) H3150L probably benign Het
Gimap7 G A 6: 48,700,953 (GRCm39) V180M probably damaging Het
Gtf3c1 T C 7: 125,275,833 (GRCm39) H531R possibly damaging Het
Herc1 T A 9: 66,399,235 (GRCm39) probably benign Het
Hip1r A G 5: 124,140,203 (GRCm39) Y1061C probably benign Het
Ipo11 T C 13: 107,023,225 (GRCm39) Y420C probably damaging Het
Ipo8 T C 6: 148,712,163 (GRCm39) probably null Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Klhl1 A T 14: 96,606,072 (GRCm39) M243K probably damaging Het
Lrp2 A G 2: 69,297,107 (GRCm39) probably null Het
Mag T C 7: 30,601,277 (GRCm39) E439G probably damaging Het
Mcm3ap T A 10: 76,332,375 (GRCm39) F1231I probably benign Het
Mcmdc2 C T 1: 9,986,780 (GRCm39) Q204* probably null Het
Mpl A C 4: 118,301,221 (GRCm39) L548R probably damaging Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Myo18b G A 5: 113,023,132 (GRCm39) Q87* probably null Het
Nfat5 A G 8: 108,020,522 (GRCm39) Y22C probably damaging Het
Nnt T A 13: 119,523,197 (GRCm39) I232L possibly damaging Het
Or8g17 T C 9: 38,930,253 (GRCm39) N195D probably benign Het
Or9s13 G A 1: 92,548,467 (GRCm39) V280M possibly damaging Het
Parp2 C T 14: 51,048,001 (GRCm39) P76S probably benign Het
Pick1 C T 15: 79,129,501 (GRCm39) H169Y probably benign Het
Prtg T A 9: 72,750,089 (GRCm39) F164L probably benign Het
Pygb A G 2: 150,659,583 (GRCm39) D422G possibly damaging Het
Samd9l C A 6: 3,375,761 (GRCm39) C500F probably benign Het
Sbno1 A C 5: 124,522,567 (GRCm39) N1083K possibly damaging Het
Septin7 C T 9: 25,188,900 (GRCm39) S77F probably damaging Het
Slc25a44 A G 3: 88,323,314 (GRCm39) V264A possibly damaging Het
Slco1a8 C T 6: 141,926,598 (GRCm39) S576N probably benign Het
Slf2 G T 19: 44,930,512 (GRCm39) E530* probably null Het
Svs5 A G 2: 164,079,578 (GRCm39) S110P possibly damaging Het
Tmbim7 G T 5: 3,715,338 (GRCm39) probably null Het
Tpgs2 T C 18: 25,273,630 (GRCm39) D177G probably damaging Het
Uba1y T A Y: 826,893 (GRCm39) F516L probably damaging Het
Ulk1 A G 5: 110,943,632 (GRCm39) V211A probably damaging Het
Vmn1r237 T A 17: 21,534,301 (GRCm39) I8N probably damaging Het
Vmn2r103 G T 17: 20,014,496 (GRCm39) M429I probably benign Het
Vmn2r112 T C 17: 22,833,989 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,227,349 (GRCm39) probably null Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C 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
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
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'- TCTGGACAATCCTGAAAATGCAGTCAA -3'
(R):5'- AGTGTTTCAGTCTCTCCCAGTCTGTAA -3'

Sequencing Primer
(F):5'- TCCTGAAAATGCAGTCAAAGGAG -3'
(R):5'- ccaggatacccagagccac -3'
Posted On 2014-04-24