Incidental Mutation 'IGL01359:Or52e8'
ID 75685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52e8
Ensembl Gene ENSMUSG00000094531
Gene Name olfactory receptor family 52 subfamily E member 8
Synonyms MOR32-12, Olfr671, GA_x6K02T2PBJ9-7604826-7603885
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01359
Quality Score
Status
Chromosome 7
Chromosomal Location 104621683-104625202 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 104625193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000077774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078710] [ENSMUST00000210963] [ENSMUST00000217091]
AlphaFold A0A1B0GSN5
Predicted Effect probably null
Transcript: ENSMUST00000078710
SMART Domains Protein: ENSMUSP00000077774
Gene: ENSMUSG00000094531

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: R4G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217091
AA Change: R4G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,621,577 (GRCm39) E605K probably damaging Het
Adgrl4 G A 3: 151,248,923 (GRCm39) C737Y probably damaging Het
Ankk1 A T 9: 49,327,328 (GRCm39) I617N possibly damaging Het
B3gat2 T C 1: 23,802,301 (GRCm39) F196L probably damaging Het
Bcl2l14 T A 6: 134,400,828 (GRCm39) I83N probably damaging Het
Bcr T C 10: 74,995,611 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,009,939 (GRCm39) I127N probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah11 T C 12: 117,946,734 (GRCm39) T3117A probably damaging Het
Dnai2 A G 11: 114,642,614 (GRCm39) Y405C probably benign Het
Emc2 A G 15: 43,375,145 (GRCm39) Y214C probably damaging Het
Fbxw2 T C 2: 34,712,762 (GRCm39) T100A probably benign Het
Fkrp C T 7: 16,545,415 (GRCm39) R149Q probably benign Het
Fsd1l A G 4: 53,659,601 (GRCm39) R153G possibly damaging Het
Galnt4 T C 10: 98,945,459 (GRCm39) Y395H probably damaging Het
Gk5 T C 9: 96,019,842 (GRCm39) L126P probably damaging Het
Gm973 A G 1: 59,669,438 (GRCm39) S830G probably benign Het
Gpc5 G A 14: 115,607,162 (GRCm39) G255S possibly damaging Het
Grk3 C A 5: 113,085,626 (GRCm39) S370I probably damaging Het
Herc1 A G 9: 66,346,550 (GRCm39) D1972G probably benign Het
Itih3 T A 14: 30,639,729 (GRCm39) D364V probably damaging Het
Lce1f G T 3: 92,626,491 (GRCm39) C55* probably null Het
Ltn1 A C 16: 87,202,581 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,315 (GRCm39) A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 (GRCm39) E3974G probably benign Het
Msl3l2 T C 10: 55,992,340 (GRCm39) V355A probably damaging Het
Nadsyn1 T C 7: 143,374,967 (GRCm39) I30V possibly damaging Het
Nuggc T C 14: 65,860,656 (GRCm39) V418A probably damaging Het
Or4f57 A T 2: 111,791,406 (GRCm39) M4K probably benign Het
Or52m2 A T 7: 102,263,379 (GRCm39) H272Q probably benign Het
Ppp4r3a T C 12: 101,024,755 (GRCm39) E248G probably damaging Het
Rab3gap2 T A 1: 184,971,067 (GRCm39) V234E probably damaging Het
Radil G A 5: 142,529,468 (GRCm39) T105I probably damaging Het
Saa4 A G 7: 46,381,060 (GRCm39) W21R possibly damaging Het
Sec62 G A 3: 30,868,455 (GRCm39) S228N unknown Het
Setd4 C T 16: 93,388,127 (GRCm39) G120S probably damaging Het
Sgpl1 G A 10: 60,936,687 (GRCm39) T556I probably benign Het
Slc14a2 T C 18: 78,197,323 (GRCm39) D811G probably benign Het
Slc26a11 A T 11: 119,254,257 (GRCm39) M192L probably benign Het
Spon1 A T 7: 113,633,525 (GRCm39) Q656L probably damaging Het
Tex15 A G 8: 34,071,926 (GRCm39) D2491G probably damaging Het
Tox T C 4: 6,697,583 (GRCm39) T407A probably damaging Het
Ubr5 A T 15: 37,973,250 (GRCm39) I2611N probably damaging Het
Usp25 G A 16: 76,856,141 (GRCm39) A245T probably damaging Het
Vwa8 C A 14: 79,302,353 (GRCm39) Y1007* probably null Het
Zfp423 T C 8: 88,507,290 (GRCm39) H893R probably damaging Het
Zfp507 A G 7: 35,493,927 (GRCm39) I372T probably damaging Het
Other mutations in Or52e8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07