Incidental Mutation 'R1972:Or52e8'
ID 221081
Institutional Source Beutler Lab
Gene Symbol Or52e8
Ensembl Gene ENSMUSG00000094531
Gene Name olfactory receptor family 52 subfamily E member 8
Synonyms MOR32-12, Olfr671, GA_x6K02T2PBJ9-7604826-7603885
MMRRC Submission 039985-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R1972 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 104621683-104625202 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104625106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 33 (I33V)
Ref Sequence ENSEMBL: ENSMUSP00000150911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078710] [ENSMUST00000210963] [ENSMUST00000217091]
AlphaFold A0A1B0GSN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000078710
AA Change: I29V

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077774
Gene: ENSMUSG00000094531
AA Change: I29V

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.4e-117 PFAM
Pfam:7TM_GPCR_Srsx 37 308 3.7e-7 PFAM
Pfam:7tm_1 43 293 1.5e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210963
AA Change: I33V

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217091
AA Change: I33V

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.2703 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (77/77)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A G 8: 112,717,050 (GRCm39) probably benign Het
Bbs2 A G 8: 94,807,805 (GRCm39) probably benign Het
Bcl9 A C 3: 97,114,518 (GRCm39) D1035E probably damaging Het
Bmpr2 A G 1: 59,852,762 (GRCm39) E31G possibly damaging Het
Borcs5 A G 6: 134,687,137 (GRCm39) D164G probably damaging Het
Cap2 A G 13: 46,791,375 (GRCm39) R181G probably damaging Het
Ccdc113 A T 8: 96,264,874 (GRCm39) H128L probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chat C T 14: 32,146,148 (GRCm39) V342I probably benign Het
Chrm4 C T 2: 91,757,838 (GRCm39) A82V probably benign Het
Cyp2d22 A T 15: 82,260,028 (GRCm39) M52K probably benign Het
Dennd2c T C 3: 103,039,014 (GRCm39) V54A probably benign Het
Dgka C T 10: 128,556,335 (GRCm39) G717D probably damaging Het
Dnah1 C T 14: 30,987,348 (GRCm39) W3550* probably null Het
Eif2ak1 A G 5: 143,821,532 (GRCm39) T283A probably benign Het
Entrep2 A T 7: 64,425,516 (GRCm39) I192N possibly damaging Het
Fcgbp A T 7: 27,793,617 (GRCm39) Y1173F probably benign Het
Flt1 G A 5: 147,591,903 (GRCm39) probably benign Het
Gpr149 T C 3: 62,438,216 (GRCm39) K647R probably benign Het
Gsdma2 T C 11: 98,541,744 (GRCm39) V157A probably benign Het
Heatr4 T A 12: 84,001,794 (GRCm39) I884F probably damaging Het
Ift56 C A 6: 38,387,738 (GRCm39) N396K probably benign Het
Il17ra A G 6: 120,459,177 (GRCm39) E776G probably benign Het
Inpp5d T C 1: 87,604,036 (GRCm39) S235P probably benign Het
Iqgap3 T A 3: 87,991,235 (GRCm39) probably null Het
Isoc2a T A 7: 4,895,086 (GRCm39) D171E probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kcnk12 T C 17: 88,104,560 (GRCm39) D108G possibly damaging Het
Klra9 A T 6: 130,159,345 (GRCm39) probably null Het
Lgmn A G 12: 102,362,080 (GRCm39) probably benign Het
Morf4l1 A T 9: 89,977,267 (GRCm39) probably benign Het
Mthfr T C 4: 148,136,384 (GRCm39) I380T probably damaging Het
Mybpc1 T C 10: 88,387,404 (GRCm39) I436V probably benign Het
Naip5 A G 13: 100,349,278 (GRCm39) V1350A probably damaging Het
Neil2 A T 14: 63,423,526 (GRCm39) C36S possibly damaging Het
Nlrx1 A G 9: 44,164,753 (GRCm39) V897A probably benign Het
Nod2 A T 8: 89,379,501 (GRCm39) M8L probably damaging Het
Nop2 A G 6: 125,111,602 (GRCm39) T112A probably benign Het
Nrap T A 19: 56,345,785 (GRCm39) T608S probably damaging Het
Nuak2 A T 1: 132,258,340 (GRCm39) H257L probably damaging Het
Or10x1 T C 1: 174,197,136 (GRCm39) F218L probably benign Het
Or2ag12 T C 7: 106,277,426 (GRCm39) D89G probably benign Het
Or4c113 A T 2: 88,884,891 (GRCm39) M293K probably benign Het
Or5ac25 A T 16: 59,182,476 (GRCm39) V35D probably damaging Het
Or5b119 T C 19: 13,457,058 (GRCm39) N168S probably benign Het
Or8b40 T A 9: 38,027,863 (GRCm39) M257K possibly damaging Het
Pde1a T C 2: 79,696,065 (GRCm39) E358G probably damaging Het
Pdlim1 A T 19: 40,211,581 (GRCm39) S237R probably damaging Het
Pithd1 T C 4: 135,714,340 (GRCm39) D36G probably damaging Het
Ppp2r3d A G 9: 101,088,976 (GRCm39) F449S probably benign Het
Prr11 G A 11: 86,989,580 (GRCm39) R264C possibly damaging Het
Rbm43 A T 2: 51,815,548 (GRCm39) H224Q probably benign Het
Rfx5 C T 3: 94,864,603 (GRCm39) L250F probably damaging Het
Rgs22 T A 15: 36,103,982 (GRCm39) I160L probably benign Het
Rorb T A 19: 18,929,567 (GRCm39) Q393H probably damaging Het
Rpl13a T A 7: 44,775,419 (GRCm39) K368* probably null Het
Scaf8 T G 17: 3,219,646 (GRCm39) S276R unknown Het
Scube2 A T 7: 109,408,421 (GRCm39) N675K probably benign Het
Sec22c A T 9: 121,517,320 (GRCm39) M126K possibly damaging Het
Serpinb11 T C 1: 107,297,210 (GRCm39) F29L probably damaging Het
Sis A G 3: 72,828,337 (GRCm39) F1217S probably damaging Het
Slc18a2 A G 19: 59,263,085 (GRCm39) D294G possibly damaging Het
Slc9c1 A G 16: 45,413,835 (GRCm39) T988A possibly damaging Het
Smndc1 A C 19: 53,371,986 (GRCm39) probably null Het
Sned1 G A 1: 93,192,795 (GRCm39) G361S probably damaging Het
Spatc1 A T 15: 76,169,075 (GRCm39) probably null Het
Stab2 A T 10: 86,796,180 (GRCm39) C356S probably damaging Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tbc1d30 A T 10: 121,142,135 (GRCm39) probably null Het
Tenm3 T C 8: 48,681,626 (GRCm39) E2668G probably damaging Het
Tigar A G 6: 127,064,889 (GRCm39) V253A possibly damaging Het
Tmc2 T A 2: 130,056,584 (GRCm39) probably benign Het
Ugt1a10 A T 1: 87,983,769 (GRCm39) Y189F probably damaging Het
Vmn2r82 A G 10: 79,214,680 (GRCm39) D221G probably damaging Het
Xkr5 C T 8: 18,991,997 (GRCm39) V131M probably damaging Het
Other mutations in Or52e8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Or52e8 APN 7 104,625,193 (GRCm39) splice site probably null
IGL02154:Or52e8 APN 7 104,625,188 (GRCm39) start codon destroyed probably null 0.14
IGL02308:Or52e8 APN 7 104,624,665 (GRCm39) missense possibly damaging 0.84
IGL02794:Or52e8 APN 7 104,624,596 (GRCm39) missense probably benign
R0919:Or52e8 UTSW 7 104,624,519 (GRCm39) nonsense probably null
R1819:Or52e8 UTSW 7 104,624,605 (GRCm39) missense probably benign 0.01
R2025:Or52e8 UTSW 7 104,624,451 (GRCm39) missense probably benign 0.01
R4910:Or52e8 UTSW 7 104,624,686 (GRCm39) missense possibly damaging 0.88
R5442:Or52e8 UTSW 7 104,624,435 (GRCm39) missense possibly damaging 0.80
R5554:Or52e8 UTSW 7 104,625,189 (GRCm39) start codon destroyed probably null 0.99
R5932:Or52e8 UTSW 7 104,624,862 (GRCm39) missense probably damaging 1.00
R6683:Or52e8 UTSW 7 104,625,175 (GRCm39) missense probably benign
R6962:Or52e8 UTSW 7 104,624,580 (GRCm39) missense probably benign 0.00
R7000:Or52e8 UTSW 7 104,624,338 (GRCm39) missense probably damaging 1.00
R7059:Or52e8 UTSW 7 104,625,224 (GRCm39) splice site probably null
R7276:Or52e8 UTSW 7 104,624,857 (GRCm39) missense possibly damaging 0.62
R7425:Or52e8 UTSW 7 104,624,268 (GRCm39) nonsense probably null
R7688:Or52e8 UTSW 7 104,624,332 (GRCm39) missense possibly damaging 0.60
R8043:Or52e8 UTSW 7 104,625,080 (GRCm39) nonsense probably null
R8074:Or52e8 UTSW 7 104,624,934 (GRCm39) missense probably damaging 1.00
R8432:Or52e8 UTSW 7 104,625,199 (GRCm39) missense probably benign
R8705:Or52e8 UTSW 7 104,624,446 (GRCm39) missense possibly damaging 0.95
R8757:Or52e8 UTSW 7 104,624,325 (GRCm39) missense probably damaging 1.00
R8759:Or52e8 UTSW 7 104,624,325 (GRCm39) missense probably damaging 1.00
R9489:Or52e8 UTSW 7 104,624,856 (GRCm39) missense probably damaging 1.00
R9597:Or52e8 UTSW 7 104,624,413 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TGAACCAGAAGATGCCCAG -3'
(R):5'- GCTCGATACCTGATGCCATG -3'

Sequencing Primer
(F):5'- CCAGCATTTTGGGGATGGTG -3'
(R):5'- ACCTGATGCCATGTAAAATTTTGG -3'
Posted On 2014-08-25