Incidental Mutation 'R5870:Or52e2'
ID 455126
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 044078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R5870 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102803999-102804952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102804948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 2 (I2T)
Ref Sequence ENSEMBL: ENSMUSP00000151739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061055] [ENSMUST00000218483]
AlphaFold Q8VGV8
Predicted Effect probably benign
Transcript: ENSMUST00000061055
AA Change: I2T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000060166
Gene: ENSMUSG00000051362
AA Change: I2T

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
Predicted Effect probably benign
Transcript: ENSMUST00000218483
AA Change: I2T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 93% (84/90)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,236,232 (GRCm39) V156A probably damaging Het
Ak6 C A 13: 100,791,932 (GRCm39) P125Q probably damaging Het
Aqp4 A C 18: 15,532,946 (GRCm39) V49G probably damaging Het
Arfgef1 A G 1: 10,251,163 (GRCm39) I874T probably damaging Het
Arid1a T C 4: 133,408,387 (GRCm39) D2040G unknown Het
Atp1a3 T G 7: 24,697,003 (GRCm39) D220A probably benign Het
C2cd4c A T 10: 79,448,043 (GRCm39) I368N possibly damaging Het
Ccnt1 G A 15: 98,441,394 (GRCm39) Q625* probably null Het
Cd177 T A 7: 24,455,757 (GRCm39) H255L probably benign Het
Cdipt G A 7: 126,578,094 (GRCm39) V114M probably benign Het
Coro1b T A 19: 4,199,384 (GRCm39) H14Q probably damaging Het
Ctdp1 T A 18: 80,451,901 (GRCm39) D158V unknown Het
Cts7 A T 13: 61,503,545 (GRCm39) S140T probably damaging Het
Dlgap3 T A 4: 127,089,502 (GRCm39) L366* probably null Het
Dnah9 C T 11: 65,976,036 (GRCm39) A1338T probably benign Het
Dock7 T C 4: 98,952,199 (GRCm39) I424V probably benign Het
Dock8 G T 19: 25,109,490 (GRCm39) A891S probably benign Het
Dync2i1 A G 12: 116,219,865 (GRCm39) S26P possibly damaging Het
Elmod3 A G 6: 72,571,721 (GRCm39) probably null Het
Eps15 G A 4: 109,218,507 (GRCm39) E107K probably damaging Het
Esco1 A T 18: 10,593,744 (GRCm39) probably null Het
Fuz A G 7: 44,549,742 (GRCm39) T407A probably damaging Het
Galr1 A T 18: 82,424,197 (GRCm39) F27I probably benign Het
Glt1d1 A G 5: 127,754,344 (GRCm39) Y182C probably damaging Het
Gm37240 A T 3: 84,597,828 (GRCm39) probably benign Het
Gm37610 A G 6: 41,061,848 (GRCm39) noncoding transcript Het
Gm6658 G T 8: 91,635,020 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,789 (GRCm39) T74A possibly damaging Het
Hadha G A 5: 30,349,284 (GRCm39) S109F possibly damaging Het
Herc3 A T 6: 58,893,435 (GRCm39) Q899L probably benign Het
Ift172 C T 5: 31,434,284 (GRCm39) E485K probably benign Het
Lrrc8e A G 8: 4,285,725 (GRCm39) K650R possibly damaging Het
Ly6d A T 15: 74,635,381 (GRCm39) V10D possibly damaging Het
Med27 A G 2: 29,279,823 (GRCm39) probably null Het
Med29 A T 7: 28,091,922 (GRCm39) V56E probably damaging Het
Mobp A G 9: 119,996,919 (GRCm39) K17E probably damaging Het
Mrpl37 G A 4: 106,923,919 (GRCm39) T25I probably benign Het
Myh1 A G 11: 67,092,805 (GRCm39) D33G possibly damaging Het
Nrg3 T A 14: 39,194,586 (GRCm39) I58F possibly damaging Het
Or7e176 A G 9: 20,171,874 (GRCm39) D246G probably benign Het
Padi1 T A 4: 140,553,892 (GRCm39) D359V probably benign Het
Pcdh7 T C 5: 57,877,753 (GRCm39) V436A possibly damaging Het
Pgm3 C A 9: 86,452,414 (GRCm39) K15N probably damaging Het
Phip A T 9: 82,790,730 (GRCm39) probably benign Het
Pot1a G A 6: 25,778,950 (GRCm39) T48I possibly damaging Het
Ppic T C 18: 53,542,333 (GRCm39) K125R probably benign Het
Ppm1j T C 3: 104,692,811 (GRCm39) V440A possibly damaging Het
Prg4 T A 1: 150,331,300 (GRCm39) K458* probably null Het
Rd3 A T 1: 191,717,261 (GRCm39) M244L probably benign Het
Rflnb A G 11: 75,912,864 (GRCm39) Y175H probably benign Het
Rnf157 T A 11: 116,237,900 (GRCm39) S574C probably benign Het
Sardh A G 2: 27,110,653 (GRCm39) probably null Het
Senp3 C T 11: 69,569,048 (GRCm39) probably null Het
Siglec1 G A 2: 130,914,767 (GRCm39) R1450C probably damaging Het
Sim2 A G 16: 93,924,193 (GRCm39) H446R probably damaging Het
Spon1 T C 7: 113,631,021 (GRCm39) I444T probably damaging Het
Srebf1 T A 11: 60,094,410 (GRCm39) Q568H possibly damaging Het
Stxbp4 A T 11: 90,428,782 (GRCm39) I441N possibly damaging Het
Sugt1 G A 14: 79,846,451 (GRCm39) V163I probably benign Het
Surf1 G T 2: 26,806,271 (GRCm39) probably benign Het
Synj2 A G 17: 6,088,128 (GRCm39) E1348G probably benign Het
Tc2n A T 12: 101,619,111 (GRCm39) V349D probably damaging Het
Ten1 A G 11: 116,105,751 (GRCm39) R112G possibly damaging Het
Tm9sf4 A G 2: 153,036,201 (GRCm39) D321G probably damaging Het
Ttll12 A T 15: 83,461,237 (GRCm39) M594K probably damaging Het
Ttn T A 2: 76,703,058 (GRCm39) probably benign Het
Usp28 C T 9: 48,937,285 (GRCm39) Q185* probably null Het
Vmn2r112 A G 17: 22,838,004 (GRCm39) I822V probably benign Het
Zc3hc1 A T 6: 30,382,682 (GRCm39) L88* probably null Het
Zfr T A 15: 12,160,701 (GRCm39) V758D probably damaging Het
Zfyve27 T G 19: 42,160,110 (GRCm39) L42R probably benign 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
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
R8214:Or52e2 UTSW 7 102,804,613 (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 2017-02-10