Incidental Mutation 'IGL03263:Or52e5'
ID 414946
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 # IGL03263
Quality Score
Status
Chromosome 7
Chromosomal Location 104718676-104719617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104719209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 178 (H178Q)
Ref Sequence ENSEMBL: ENSMUSP00000150213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098160] [ENSMUST00000213622]
AlphaFold Q8VG26
Predicted Effect probably damaging
Transcript: ENSMUST00000098160
AA Change: H178Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095763
Gene: ENSMUSG00000073913
AA Change: H178Q

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 damaging
Transcript: ENSMUST00000213622
AA Change: H178Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T A 5: 138,562,499 (GRCm39) I81F probably damaging Het
Acacb C T 5: 114,351,754 (GRCm39) H1164Y probably damaging Het
Adamts5 A T 16: 85,666,830 (GRCm39) V554E probably damaging Het
Asns G A 6: 7,689,404 (GRCm39) R33C probably benign Het
BC051076 T G 5: 88,111,977 (GRCm39) noncoding transcript Het
Bcas3 C T 11: 85,712,948 (GRCm39) probably benign Het
Bpifb1 A G 2: 154,057,226 (GRCm39) M395V probably benign Het
Cdcp1 C A 9: 123,009,152 (GRCm39) V509L probably benign Het
Cdhr2 A G 13: 54,865,926 (GRCm39) T277A possibly damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clca4a T A 3: 144,672,192 (GRCm39) E250V probably damaging Het
Cplx4 T C 18: 66,100,559 (GRCm39) D79G probably benign Het
Dcaf11 A G 14: 55,802,949 (GRCm39) D246G probably damaging Het
Dnah2 A T 11: 69,420,207 (GRCm39) probably null Het
Dock3 A T 9: 106,807,330 (GRCm39) probably benign Het
Fam170a T C 18: 50,413,588 (GRCm39) probably benign Het
Fgfr2 T A 7: 129,782,149 (GRCm39) M423L probably benign Het
Gabra2 A G 5: 71,130,836 (GRCm39) F331L probably damaging Het
Galnt18 C T 7: 111,119,321 (GRCm39) R400Q probably damaging Het
H2-M11 A T 17: 36,859,805 (GRCm39) Q266L probably damaging Het
Igf2bp1 A T 11: 95,857,499 (GRCm39) V502D probably damaging Het
Ik A G 18: 36,881,699 (GRCm39) N111S probably damaging Het
Intu T A 3: 40,627,027 (GRCm39) Y269* probably null Het
Krt82 T C 15: 101,450,307 (GRCm39) Y463C probably benign Het
Lrig1 A G 6: 94,588,628 (GRCm39) M507T probably benign Het
Lrrc37 A G 11: 103,504,525 (GRCm39) V2481A possibly damaging Het
Mag T G 7: 30,598,953 (GRCm39) probably null Het
Map7 T A 10: 20,121,068 (GRCm39) Y121* probably null Het
Marchf6 A G 15: 31,486,508 (GRCm39) I349T probably benign Het
Mas1 A G 17: 13,060,451 (GRCm39) V324A possibly damaging Het
Nckap1l T C 15: 103,372,832 (GRCm39) W259R probably damaging Het
Nhsl1 T A 10: 18,373,827 (GRCm39) Y164* probably null Het
Or8b38 A T 9: 37,973,009 (GRCm39) Y131F probably damaging Het
Pcdhb2 A G 18: 37,429,059 (GRCm39) D344G probably damaging Het
Pclo T C 5: 14,731,824 (GRCm39) V3442A unknown Het
Polr3c C T 3: 96,621,567 (GRCm39) probably benign Het
Ppp2r2d C T 7: 138,474,651 (GRCm39) R11* probably null Het
Ptgfr T A 3: 151,541,500 (GRCm39) M3L probably benign Het
Rfx6 A G 10: 51,601,903 (GRCm39) S741G probably benign Het
Rif1 T C 2: 51,980,273 (GRCm39) V490A probably damaging Het
Samd7 T A 3: 30,816,302 (GRCm39) H349Q probably damaging Het
Sh3pxd2a T C 19: 47,302,482 (GRCm39) N199S probably damaging Het
Spef2 T A 15: 9,667,305 (GRCm39) K794N possibly damaging Het
Spta1 C T 1: 174,041,484 (GRCm39) A1316V probably damaging Het
Vwa7 A G 17: 35,240,575 (GRCm39) E410G probably benign Het
Washc2 T A 6: 116,215,084 (GRCm39) probably benign Het
Wdr72 A C 9: 74,064,711 (GRCm39) Y581S probably damaging Het
Zdhhc17 T C 10: 110,796,877 (GRCm39) D298G probably damaging Het
Other mutations in Or52e5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01125:Or52e5 APN 7 104,718,808 (GRCm39) missense probably benign 0.44
IGL01469:Or52e5 APN 7 104,719,595 (GRCm39) missense probably benign 0.05
IGL01726:Or52e5 APN 7 104,718,836 (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 2016-08-02