Incidental Mutation 'IGL01469:Or52e5'
ID 88213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52e5
Ensembl Gene ENSMUSG00000073913
Gene Name olfactory receptor family 52 subfamily E member 5
Synonyms MOR32-5, GA_x6K02T2PBJ9-7698491-7699432, Olfr678
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL01469
Quality Score
Status
Chromosome 7
Chromosomal Location 104718676-104719617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104719595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 307 (M307K)
Ref Sequence ENSEMBL: ENSMUSP00000150213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098160] [ENSMUST00000213622]
AlphaFold Q8VG26
Predicted Effect probably benign
Transcript: ENSMUST00000098160
AA Change: M307K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095763
Gene: ENSMUSG00000073913
AA Change: M307K

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 2.2e-115 PFAM
Pfam:7TM_GPCR_Srsx 37 212 2.8e-6 PFAM
Pfam:7tm_1 43 293 8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213622
AA Change: M307K

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A G 4: 144,255,192 (GRCm39) Q204R possibly damaging Het
Actn2 C T 13: 12,325,796 (GRCm39) E60K possibly damaging Het
Alpk1 T C 3: 127,471,401 (GRCm39) probably null Het
Ccdc107 A G 4: 43,495,751 (GRCm39) N218S probably benign Het
Cdh23 A T 10: 60,433,504 (GRCm39) M60K probably benign Het
Cenpe A G 3: 134,934,567 (GRCm39) Q378R probably damaging Het
Dnaaf6rt A T 1: 31,262,510 (GRCm39) D164V probably damaging Het
Dnah8 T A 17: 30,902,688 (GRCm39) probably benign Het
Eif2b4 T C 5: 31,345,111 (GRCm39) D190G probably benign Het
Fmo5 A G 3: 97,558,884 (GRCm39) N448S probably benign Het
Gal3st2c A G 1: 93,937,039 (GRCm39) N328S probably benign Het
Gbf1 A T 19: 46,267,803 (GRCm39) E1271V probably damaging Het
Ifitm6 A T 7: 140,596,725 (GRCm39) V16D probably damaging Het
Ighv2-4 A G 12: 113,616,966 (GRCm39) probably null Het
Kng2 T A 16: 22,818,577 (GRCm39) K305I probably damaging Het
Lrp1 C T 10: 127,420,283 (GRCm39) R900Q probably damaging Het
Maml1 A G 11: 50,157,353 (GRCm39) M274T probably damaging Het
Med23 A G 10: 24,758,495 (GRCm39) E278G probably damaging Het
Myo1h A G 5: 114,499,330 (GRCm39) T164A probably damaging Het
Ncoa2 A T 1: 13,257,093 (GRCm39) S135R probably benign Het
Nrbf2 A G 10: 67,105,919 (GRCm39) L41P probably damaging Het
Or10a48 A G 7: 108,424,534 (GRCm39) V224A probably benign Het
Or1j13 T C 2: 36,369,836 (GRCm39) Y102C probably benign Het
Or1o11 T A 17: 37,756,426 (GRCm39) S5T probably benign Het
Or6c6 A G 10: 129,186,449 (GRCm39) M6V probably benign Het
Otoa T C 7: 120,754,496 (GRCm39) probably null Het
Plxnb1 T C 9: 108,934,483 (GRCm39) probably benign Het
Ppp1r42 A T 1: 10,073,458 (GRCm39) probably null Het
Rad54l2 T A 9: 106,599,957 (GRCm39) K100M probably damaging Het
Rnf112 T A 11: 61,342,167 (GRCm39) T308S possibly damaging Het
Scaper T C 9: 55,767,051 (GRCm39) D466G probably damaging Het
Sgsm2 T A 11: 74,744,697 (GRCm39) I796L possibly damaging Het
Shank3 T C 15: 89,405,477 (GRCm39) L476P probably damaging Het
Shkbp1 T C 7: 27,055,366 (GRCm39) T6A probably benign Het
Slc14a2 A T 18: 78,198,781 (GRCm39) I783N probably damaging Het
Stat1 A G 1: 52,186,529 (GRCm39) D447G possibly damaging Het
Tekt3 T G 11: 62,964,294 (GRCm39) I208S probably damaging Het
Tenm3 A T 8: 48,689,458 (GRCm39) V2043E probably damaging Het
Tgm3 T C 2: 129,866,414 (GRCm39) Y111H probably damaging Het
Tph2 T A 10: 114,915,664 (GRCm39) R459* probably null Het
Vmn2r109 T C 17: 20,761,671 (GRCm39) Y562C probably damaging Het
Other mutations in Or52e5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Or52e5 APN 7 104,718,808 (GRCm39) missense probably benign 0.44
IGL01726:Or52e5 APN 7 104,718,836 (GRCm39) missense probably damaging 1.00
IGL03263:Or52e5 APN 7 104,719,209 (GRCm39) missense probably damaging 1.00
R1423:Or52e5 UTSW 7 104,719,226 (GRCm39) missense probably damaging 1.00
R2181:Or52e5 UTSW 7 104,719,418 (GRCm39) missense possibly damaging 0.88
R4594:Or52e5 UTSW 7 104,718,797 (GRCm39) missense probably benign 0.00
R5376:Or52e5 UTSW 7 104,719,564 (GRCm39) missense probably damaging 1.00
R5782:Or52e5 UTSW 7 104,718,956 (GRCm39) missense probably damaging 1.00
R5847:Or52e5 UTSW 7 104,719,064 (GRCm39) missense probably benign 0.01
R6418:Or52e5 UTSW 7 104,719,514 (GRCm39) missense probably damaging 1.00
R6664:Or52e5 UTSW 7 104,719,395 (GRCm39) missense possibly damaging 0.64
R7593:Or52e5 UTSW 7 104,718,704 (GRCm39) missense probably benign 0.27
R8813:Or52e5 UTSW 7 104,719,518 (GRCm39) nonsense probably null
R8841:Or52e5 UTSW 7 104,719,479 (GRCm39) missense possibly damaging 0.69
R8933:Or52e5 UTSW 7 104,718,599 (GRCm39) start gained probably benign
R9485:Or52e5 UTSW 7 104,718,703 (GRCm39) missense possibly damaging 0.60
R9696:Or52e5 UTSW 7 104,719,283 (GRCm39) missense probably damaging 0.98
RF015:Or52e5 UTSW 7 104,719,255 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18