Incidental Mutation 'R8043:Or52e8'
ID 618626
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 067480-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R8043 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104621683-104625202 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 104625080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 41 (Y41*)
Ref Sequence ENSEMBL: ENSMUSP00000148008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078710] [ENSMUST00000210963] [ENSMUST00000217091]
AlphaFold A0A1B0GSN5
Predicted Effect probably null
Transcript: ENSMUST00000078710
AA Change: Y37*
SMART Domains Protein: ENSMUSP00000077774
Gene: ENSMUSG00000094531
AA Change: Y37*

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 probably null
Transcript: ENSMUST00000210963
AA Change: Y41*
Predicted Effect probably null
Transcript: ENSMUST00000217091
AA Change: Y41*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (50/51)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,211,665 (GRCm39) Y628C probably damaging Het
Alpk2 C T 18: 65,482,901 (GRCm39) C369Y probably damaging Het
Atl1 T C 12: 70,005,989 (GRCm39) Y432H probably damaging Het
Cacnb4 C T 2: 52,355,663 (GRCm39) V215M probably damaging Het
Cep170 C T 1: 176,596,808 (GRCm39) M516I probably damaging Het
Cep83 A C 10: 94,573,804 (GRCm39) N231T probably damaging Het
Cfap44 G A 16: 44,234,054 (GRCm39) G338D probably benign Het
Col6a6 A T 9: 105,576,219 (GRCm39) V2047E probably damaging Het
Coro1c C T 5: 114,003,820 (GRCm39) silent Het
Cplx4 A T 18: 66,090,190 (GRCm39) probably null Het
Csf1r G C 18: 61,257,947 (GRCm39) G639R probably damaging Het
Epha5 A G 5: 84,381,513 (GRCm39) V446A probably benign Het
Esam T C 9: 37,448,317 (GRCm39) V252A probably damaging Het
F13b T G 1: 139,450,186 (GRCm39) M616R probably benign Het
Fbxw21 T C 9: 108,975,694 (GRCm39) Y234C probably benign Het
Fshr C T 17: 89,293,818 (GRCm39) E287K probably benign Het
Fstl4 T C 11: 52,891,050 (GRCm39) S63P probably benign Het
Glra1 G A 11: 55,424,688 (GRCm39) P174L probably damaging Het
Golga7 A T 8: 23,746,731 (GRCm39) C24S possibly damaging Het
Gpr3 G A 4: 132,938,271 (GRCm39) R134C probably damaging Het
Greb1 T C 12: 16,761,790 (GRCm39) E530G probably damaging Het
Hmgcs2 C T 3: 98,198,444 (GRCm39) R116C probably damaging Het
Kcnj9 C A 1: 172,153,623 (GRCm39) R167L probably damaging Het
Kcnq5 T A 1: 21,549,644 (GRCm39) Q361L probably damaging Het
Lrrc40 T C 3: 157,769,397 (GRCm39) S532P possibly damaging Het
Mob3a A T 10: 80,525,846 (GRCm39) I155N probably damaging Het
Mpi A T 9: 57,457,881 (GRCm39) L107Q probably damaging Het
Npffr2 G A 5: 89,730,513 (GRCm39) V148I probably benign Het
Nrp1 G T 8: 129,158,504 (GRCm39) V264L probably benign Het
Oas1a T C 5: 121,035,080 (GRCm39) E360G probably benign Het
Or4k15c A T 14: 50,321,367 (GRCm39) I257N possibly damaging Het
Or5b96 A C 19: 12,867,095 (GRCm39) V282G probably damaging Het
Pcdha2 A G 18: 37,072,579 (GRCm39) D70G probably benign Het
Pcsk2 A T 2: 143,655,450 (GRCm39) K545* probably null Het
Phf11b T C 14: 59,568,722 (GRCm39) S64G probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pygo2 T C 3: 89,340,235 (GRCm39) L211P possibly damaging Het
Rbbp6 C T 7: 122,584,468 (GRCm39) T161I probably damaging Het
Rcsd1 A T 1: 165,482,911 (GRCm39) I390N probably benign Het
Rpl21 T C 5: 146,772,702 (GRCm39) V141A probably benign Het
Rufy3 C A 5: 88,790,851 (GRCm39) D517E probably benign Het
Ryr3 A T 2: 112,606,009 (GRCm39) L2417Q probably damaging Het
Ryr3 C T 2: 112,705,422 (GRCm39) E831K probably damaging Het
Sipa1l1 A C 12: 82,496,700 (GRCm39) Q1744P probably damaging Het
Sirt6 A G 10: 81,458,240 (GRCm39) probably null Het
Slain1 C A 14: 103,925,782 (GRCm39) Q377K possibly damaging Het
Slc30a6 T G 17: 74,730,018 (GRCm39) S303A probably damaging Het
Sorcs3 T A 19: 48,752,734 (GRCm39) L843Q possibly damaging Het
Usp45 G A 4: 21,824,543 (GRCm39) A432T probably benign Het
Vmn1r91 T A 7: 19,835,218 (GRCm39) S46T possibly damaging Het
Ybx3 T C 6: 131,361,469 (GRCm39) N100S probably benign Het
Zfp747 A G 7: 126,973,225 (GRCm39) L315P probably benign Het
Zfp750 T C 11: 121,402,706 (GRCm39) T681A probably benign 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
R1972:Or52e8 UTSW 7 104,625,106 (GRCm39) missense possibly damaging 0.63
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
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'- TTCCCTGAGATTGAACCAGAAG -3'
(R):5'- GCTCGATACCTGATGCCATG -3'

Sequencing Primer
(F):5'- CTGAGATTGAACCAGAAGATGCCC -3'
(R):5'- ACCTGATGCCATGTAAAATTTTGG -3'
Posted On 2020-01-23