Incidental Mutation 'R8214:Or52e2'
ID 636313
Institutional Source Beutler Lab
Gene Symbol Or52e2
Ensembl Gene ENSMUSG00000051362
Gene Name olfactory receptor family 52 subfamily E member 2
Synonyms GA_x6K02T2PBJ9-5871256-5870303, MOR32-3, Olfr589
MMRRC Submission 067656-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R8214 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102803999-102804952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 102804613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 114 (S114A)
Ref Sequence ENSEMBL: ENSMUSP00000060166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061055]
AlphaFold Q8VGV8
Predicted Effect probably damaging
Transcript: ENSMUST00000061055
AA Change: S114A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060166
Gene: ENSMUSG00000051362
AA Change: S114A

Pfam:7tm_4 33 311 3.1e-132 PFAM
Pfam:7TM_GPCR_Srsx 37 171 1.5e-7 PFAM
Pfam:7tm_1 43 293 1.1e-12 PFAM
Meta Mutation Damage Score 0.3897 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,177,447 (GRCm39) R52Q Het
Abcc3 C T 11: 94,254,344 (GRCm39) R718H probably damaging Het
Abcc4 T C 14: 118,738,253 (GRCm39) M1166V probably benign Het
Abhd16b C T 2: 181,135,983 (GRCm39) T295I probably damaging Het
Amph A G 13: 19,288,468 (GRCm39) N319S possibly damaging Het
Ankrd27 A G 7: 35,313,944 (GRCm39) D425G probably damaging Het
Atg4b T C 1: 93,712,609 (GRCm39) S316P probably damaging Het
Brd4 A G 17: 32,431,921 (GRCm39) S649P probably benign Het
Bzw1 T C 1: 58,444,196 (GRCm39) S411P probably damaging Het
Carmil1 T C 13: 24,228,215 (GRCm39) E987G probably damaging Het
Dnah6 T C 6: 73,021,711 (GRCm39) D3537G probably damaging Het
Dnpep A T 1: 75,292,642 (GRCm39) W126R probably damaging Het
Efcab2 T C 1: 178,265,015 (GRCm39) V27A probably benign Het
Kctd21 T C 7: 96,996,548 (GRCm39) L7P probably damaging Het
Kidins220 C T 12: 25,044,854 (GRCm39) T216I probably damaging Het
Lpl T A 8: 69,345,257 (GRCm39) M87K probably damaging Het
Ltn1 A G 16: 87,177,691 (GRCm39) V1646A probably benign Het
Madcam1 A G 10: 79,502,592 (GRCm39) T359A probably benign Het
Muc5ac A G 7: 141,356,685 (GRCm39) K1092E possibly damaging Het
Nrg2 T C 18: 36,329,729 (GRCm39) E162G probably benign Het
Or10ak11 A T 4: 118,687,288 (GRCm39) F117L probably benign Het
Or5p54 T A 7: 107,554,174 (GRCm39) S109T probably benign Het
Pcdhb5 G T 18: 37,454,636 (GRCm39) V339L probably benign Het
Plec A G 15: 76,076,484 (GRCm39) W145R unknown Het
Polr3f A G 2: 144,378,230 (GRCm39) N201D probably benign Het
Skint5 T C 4: 113,662,139 (GRCm39) probably null Het
Slc12a2 A G 18: 58,070,791 (GRCm39) I1048V probably benign Het
Sult2a4 A G 7: 13,723,401 (GRCm39) I39T probably benign Het
Tenm4 T C 7: 96,544,614 (GRCm39) V2247A probably damaging Het
Tg C T 15: 66,645,247 (GRCm39) R2385C probably damaging Het
Tomm70a G T 16: 56,942,330 (GRCm39) A36S unknown Het
Top2b G A 14: 16,383,177 (GRCm38) R55H probably damaging Het
Tut4 A G 4: 108,369,347 (GRCm39) I636V probably benign Het
Unc45b A G 11: 82,824,714 (GRCm39) I629M possibly damaging Het
Vmn1r16 T C 6: 57,300,424 (GRCm39) E66G noncoding transcript Het
Vmn1r189 C T 13: 22,286,301 (GRCm39) V179I probably benign Het
Vmn2r105 T G 17: 20,448,775 (GRCm39) E134A probably benign Het
Wdr70 G A 15: 7,916,851 (GRCm39) A522V probably benign Het
Zfp184 T A 13: 22,142,995 (GRCm39) C234S probably damaging Het
Zscan5b C T 7: 6,236,946 (GRCm39) P232S possibly damaging Het
Other mutations in Or52e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01955:Or52e2 APN 7 102,804,061 (GRCm39) nonsense probably null
IGL02059:Or52e2 APN 7 102,804,310 (GRCm39) missense probably benign 0.14
IGL02336:Or52e2 APN 7 102,804,772 (GRCm39) missense probably benign 0.09
IGL03355:Or52e2 APN 7 102,804,408 (GRCm39) missense probably damaging 1.00
PIT4508001:Or52e2 UTSW 7 102,804,520 (GRCm39) missense probably benign
R0900:Or52e2 UTSW 7 102,804,520 (GRCm39) missense probably benign
R2250:Or52e2 UTSW 7 102,804,157 (GRCm39) missense probably damaging 1.00
R3500:Or52e2 UTSW 7 102,804,297 (GRCm39) missense probably damaging 1.00
R4756:Or52e2 UTSW 7 102,804,332 (GRCm39) missense probably benign 0.24
R4776:Or52e2 UTSW 7 102,804,621 (GRCm39) missense probably benign 0.40
R5022:Or52e2 UTSW 7 102,804,942 (GRCm39) missense probably benign
R5151:Or52e2 UTSW 7 102,804,593 (GRCm39) missense probably damaging 0.99
R5231:Or52e2 UTSW 7 102,804,175 (GRCm39) missense probably damaging 1.00
R5870:Or52e2 UTSW 7 102,804,948 (GRCm39) missense probably benign 0.00
R5973:Or52e2 UTSW 7 102,804,081 (GRCm39) missense possibly damaging 0.93
R6567:Or52e2 UTSW 7 102,804,135 (GRCm39) missense possibly damaging 0.94
R7095:Or52e2 UTSW 7 102,804,537 (GRCm39) missense probably damaging 1.00
R8915:Or52e2 UTSW 7 102,804,411 (GRCm39) missense probably damaging 1.00
R8921:Or52e2 UTSW 7 102,804,660 (GRCm39) missense probably benign
R9258:Or52e2 UTSW 7 102,804,409 (GRCm39) nonsense probably null
R9679:Or52e2 UTSW 7 102,804,652 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-07-13