Incidental Mutation 'R2380:Or52e3'
ID 248424
Institutional Source Beutler Lab
Gene Symbol Or52e3
Ensembl Gene ENSMUSG00000073954
Gene Name olfactory receptor family 52 subfamily E member 3
Synonyms Olfr594, MOR32-10, GA_x6K02T2PBJ9-5935234-5936169
MMRRC Submission 040356-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R2380 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102868927-102869862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102869815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 297 (T297S)
Ref Sequence ENSEMBL: ENSMUSP00000149847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098205] [ENSMUST00000214051]
AlphaFold Q7TRR4
Predicted Effect possibly damaging
Transcript: ENSMUST00000098205
AA Change: T297S

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095806
Gene: ENSMUSG00000073954
AA Change: T297S

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 2.6e-130 PFAM
Pfam:7TM_GPCR_Srsx 37 284 4.6e-6 PFAM
Pfam:7tm_1 43 293 3.2e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214051
AA Change: T297S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (44/44)
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
4930407I10Rik T C 15: 81,949,036 (GRCm39) S978P possibly damaging Het
Ago3 G A 4: 126,262,315 (GRCm39) R412C probably damaging Het
Ampd3 C T 7: 110,399,917 (GRCm39) T344M probably damaging Het
Arl10 G T 13: 54,722,962 (GRCm39) V19L probably benign Het
Aspm C T 1: 139,407,086 (GRCm39) A1991V probably damaging Het
Axdnd1 A T 1: 156,193,221 (GRCm39) D655E probably benign Het
Bdp1 T C 13: 100,196,878 (GRCm39) H1169R probably benign Het
Cacna1s T C 1: 136,023,586 (GRCm39) F942L probably damaging Het
Camk2g A G 14: 20,789,455 (GRCm39) I205T probably damaging Het
Cdh5 C A 8: 104,852,304 (GRCm39) H140N possibly damaging Het
Cog8 C A 8: 107,782,993 (GRCm39) G99W probably damaging Het
Csmd1 A G 8: 16,240,101 (GRCm39) C1104R probably damaging Het
Dhrs7c G A 11: 67,706,690 (GRCm39) V283M probably benign Het
Emilin2 T A 17: 71,617,219 (GRCm39) Q64L probably benign Het
Enpp3 T C 10: 24,652,770 (GRCm39) E729G probably benign Het
Fam169a T A 13: 97,255,043 (GRCm39) probably benign Het
Gvin-ps3 T C 7: 105,681,374 (GRCm39) E627G possibly damaging Het
Hmcn1 T A 1: 150,441,135 (GRCm39) M5374L probably benign Het
Hsd17b1 A T 11: 100,969,289 (GRCm39) I8F probably damaging Het
Itgae A G 11: 73,036,395 (GRCm39) E1111G probably benign Het
Kcmf1 A G 6: 72,835,755 (GRCm39) probably null Het
Kdm1b T A 13: 47,227,231 (GRCm39) F574L probably damaging Het
Lgr4 T C 2: 109,842,738 (GRCm39) Y908H probably damaging Het
Lig1 T C 7: 13,037,722 (GRCm39) probably benign Het
Ltbp3 C A 19: 5,801,551 (GRCm39) C698* probably null Het
Ncor2 A G 5: 125,113,144 (GRCm39) V1216A possibly damaging Het
Or5b109 T C 19: 13,212,085 (GRCm39) V157A probably benign Het
Or5l13 T C 2: 87,779,741 (GRCm39) T279A probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp5c A G 7: 16,740,040 (GRCm39) Y434H probably damaging Het
Pwwp2b A G 7: 138,835,366 (GRCm39) E269G probably damaging Het
Rgs3 A T 4: 62,544,124 (GRCm39) T299S probably benign Het
Skint5 G A 4: 113,403,733 (GRCm39) T1163I unknown Het
Slc35f4 A G 14: 49,543,660 (GRCm39) probably null Het
Smr2l T G 5: 88,430,413 (GRCm39) M103R probably benign Het
Trmt5 A G 12: 73,331,888 (GRCm39) I4T probably benign Het
Ttc7b A G 12: 100,321,260 (GRCm39) probably null Het
Utp6 A G 11: 79,826,831 (GRCm39) S582P possibly damaging Het
Zbtb41 T C 1: 139,351,552 (GRCm39) S222P probably damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign Het
Other mutations in Or52e3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Or52e3 APN 7 102,869,558 (GRCm39) missense probably damaging 1.00
IGL02732:Or52e3 APN 7 102,869,447 (GRCm39) missense probably benign 0.01
IGL03268:Or52e3 APN 7 102,869,848 (GRCm39) missense probably benign 0.09
R0008:Or52e3 UTSW 7 102,869,584 (GRCm39) missense probably benign 0.00
R0008:Or52e3 UTSW 7 102,869,558 (GRCm39) missense probably damaging 1.00
R1056:Or52e3 UTSW 7 102,869,625 (GRCm39) missense probably benign 0.01
R1300:Or52e3 UTSW 7 102,869,324 (GRCm39) missense probably benign 0.10
R1961:Or52e3 UTSW 7 102,869,204 (GRCm39) missense probably benign
R2029:Or52e3 UTSW 7 102,868,967 (GRCm39) missense probably damaging 0.97
R4616:Or52e3 UTSW 7 102,869,629 (GRCm39) nonsense probably null
R7361:Or52e3 UTSW 7 102,869,830 (GRCm39) missense possibly damaging 0.96
R7366:Or52e3 UTSW 7 102,869,740 (GRCm39) missense probably benign 0.02
R7539:Or52e3 UTSW 7 102,869,273 (GRCm39) missense possibly damaging 0.93
R7593:Or52e3 UTSW 7 102,869,471 (GRCm39) missense probably damaging 1.00
R8393:Or52e3 UTSW 7 102,869,399 (GRCm39) missense probably benign 0.07
R8809:Or52e3 UTSW 7 102,869,446 (GRCm39) missense probably benign
R8984:Or52e3 UTSW 7 102,869,393 (GRCm39) missense possibly damaging 0.76
R9203:Or52e3 UTSW 7 102,869,862 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- GATACTCCGTGCAGTTTTCCG -3'
(R):5'- GCTTGGTGTATACAAACTCAACACAC -3'

Sequencing Primer
(F):5'- GAATCAAGTCCCTCAGCACTTGTG -3'
(R):5'- CAAACTCAACACACATTCTAAACTC -3'
Posted On 2014-11-11