Incidental Mutation 'R3894:Or2a52'
ID 310444
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R3894 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 43143994-43144926 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43144192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 67 (I67F)
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: I67F

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058147
Gene: ENSMUSG00000071481
AA Change: I67F

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: I67F

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145490
Gene: ENSMUSG00000071481
AA Change: I67F

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1s1 A G 7: 44,503,363 (GRCm39) D180G probably damaging Het
Aldh1a7 A T 19: 20,673,762 (GRCm39) Y457* probably null Het
Alpk3 C T 7: 80,728,138 (GRCm39) P423S possibly damaging Het
Aox1 A T 1: 58,373,837 (GRCm39) probably null Het
Crebbp T C 16: 3,913,966 (GRCm39) T1316A probably benign Het
Cul3 C A 1: 80,261,407 (GRCm39) V273F probably damaging Het
Dnah1 G T 14: 31,028,985 (GRCm39) R582S probably benign Het
Fbxl2 T C 9: 113,832,261 (GRCm39) N51S probably damaging Het
Gapvd1 T C 2: 34,618,488 (GRCm39) D295G probably benign Het
Gdf7 A G 12: 8,348,845 (GRCm39) S151P unknown Het
Gm10277 T C 11: 77,676,827 (GRCm39) probably benign Het
Hdac4 T C 1: 91,898,690 (GRCm39) E688G possibly damaging Het
Htr1d A G 4: 136,170,548 (GRCm39) E259G probably benign Het
Ifi204 T C 1: 173,576,774 (GRCm39) H609R possibly damaging Het
Ift80 T C 3: 68,825,332 (GRCm39) D541G probably damaging Het
Il18r1 A T 1: 40,514,034 (GRCm39) H80L possibly damaging Het
Lrp4 G A 2: 91,304,294 (GRCm39) G158S probably damaging Het
Mesd T A 7: 83,546,993 (GRCm39) L152H probably damaging Het
Mmut G A 17: 41,266,030 (GRCm39) C531Y probably damaging Het
Morf4l1 A T 9: 89,976,501 (GRCm39) F276I possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo15a A G 11: 60,395,145 (GRCm39) T2480A probably benign Het
Or2y15 G A 11: 49,350,766 (GRCm39) G87R possibly damaging Het
Or4f47 T C 2: 111,972,359 (GRCm39) I23T probably benign Het
Or4g17 C A 2: 111,209,982 (GRCm39) F212L probably benign Het
Or5k16 A G 16: 58,736,702 (GRCm39) F101L probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcbp4 A T 9: 106,338,570 (GRCm39) Q59L possibly damaging Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Rad50 T A 11: 53,569,697 (GRCm39) I905L probably benign Het
Rp1l1 T C 14: 64,266,756 (GRCm39) S781P probably benign Het
Rps3 C T 7: 99,129,103 (GRCm39) R173H probably benign Het
Rtn3 T A 19: 7,412,450 (GRCm39) T86S probably damaging Het
Sdha A T 13: 74,482,510 (GRCm39) S268T probably benign Het
Sgo2b A T 8: 64,381,767 (GRCm39) V355E possibly damaging Het
Sh3glb2 T C 2: 30,245,300 (GRCm39) T60A probably damaging Het
Slc26a3 A C 12: 31,514,719 (GRCm39) Y513S probably damaging Het
Slc35b2 T C 17: 45,877,368 (GRCm39) V165A probably benign Het
Slco3a1 A G 7: 73,934,361 (GRCm39) W604R probably damaging Het
Tet2 A G 3: 133,175,238 (GRCm39) S1370P possibly damaging Het
Tmtc4 A T 14: 123,158,731 (GRCm39) probably null Het
Tsga13 A G 6: 30,889,198 (GRCm39) V18A probably benign Het
Ugt2a3 T C 5: 87,477,449 (GRCm39) T317A probably benign Het
Zcchc4 A T 5: 52,941,442 (GRCm39) D79V 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
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
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
Posted On 2015-04-17