Incidental Mutation 'R0900:Or52e2'
ID 83835
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R0900 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102803999-102804952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102804520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 145 (M145L)
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: M145L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060166
Gene: ENSMUSG00000051362
AA Change: M145L

DomainStartEndE-ValueType
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: M145L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,904,359 (GRCm39) F144I probably damaging Het
Als2cl A G 9: 110,719,496 (GRCm39) R468G possibly damaging Het
Arsk C A 13: 76,246,576 (GRCm39) probably benign Het
Cacna1d T C 14: 29,833,039 (GRCm39) H912R probably damaging Het
Ccr1 A T 9: 123,764,371 (GRCm39) V53D possibly damaging Het
Cfap91 G A 16: 38,156,764 (GRCm39) S47L possibly damaging Het
Clec2d G A 6: 129,160,076 (GRCm39) R30K probably benign Het
Col12a1 A G 9: 79,591,535 (GRCm39) V975A possibly damaging Het
Col4a1 AGCCAGGGATGCCAGG AGCCAGG 8: 11,268,014 (GRCm39) probably benign Het
Cul7 T C 17: 46,969,263 (GRCm39) S907P probably benign Het
Depdc1b A T 13: 108,498,794 (GRCm39) H159L possibly damaging Het
Dhx57 T C 17: 80,583,011 (GRCm39) H198R probably benign Het
Dpp7 T C 2: 25,246,311 (GRCm39) D10G probably damaging Het
Esp18 G A 17: 39,719,023 (GRCm39) M7I possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fam167a A G 14: 63,689,828 (GRCm39) T42A probably damaging Het
Gm973 A G 1: 59,605,827 (GRCm39) R553G probably benign Het
Ift140 T A 17: 25,254,786 (GRCm39) I422N probably benign Het
Jag1 CTTT CTTTT 2: 136,932,802 (GRCm39) probably null Het
Limk2 A G 11: 3,300,731 (GRCm39) F204L probably damaging Het
Lmo7 A G 14: 102,124,624 (GRCm39) D361G probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdh18 A T 3: 49,711,252 (GRCm39) F21Y probably benign Het
Pcna-ps2 T A 19: 9,261,487 (GRCm39) Y249N probably damaging Het
Prkce A T 17: 86,932,886 (GRCm39) D622V probably damaging Het
Prss47 A C 13: 65,197,208 (GRCm39) V176G possibly damaging Het
Prss55 C T 14: 64,314,627 (GRCm39) R181H probably benign Het
Prtg A T 9: 72,752,225 (GRCm39) I204L probably benign Het
Pura T C 18: 36,420,720 (GRCm39) I169T probably damaging Het
Rttn C T 18: 89,119,815 (GRCm39) T1750I probably benign Het
Slc25a26 T A 6: 94,484,639 (GRCm39) S60T probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem94 T A 11: 115,682,804 (GRCm39) C614S probably benign Het
Trim12a T C 7: 103,953,469 (GRCm39) N214S probably benign Het
Ube3c T C 5: 29,806,344 (GRCm39) Y329H probably benign Het
Ubxn2a T C 12: 4,952,257 (GRCm39) K2E probably damaging Het
Unc80 A T 1: 66,710,757 (GRCm39) E2675D probably benign Het
Usf3 C T 16: 44,036,321 (GRCm39) P267L probably benign Het
Vmn1r129 A T 7: 21,094,635 (GRCm39) Y194* probably null Het
Zfp750 T C 11: 121,403,807 (GRCm39) E356G 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
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
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
(F):5'- TGACACTTGCACAAGACAGCCG -3'
(R):5'- GTGATCAAAACTGAGAGCAGCCTCC -3'

Sequencing Primer
(F):5'- GTGCAAGACCCATGTGCTC -3'
(R):5'- ATTGACTTGGGCCTCTCAACAG -3'
Posted On 2013-11-08