|Institutional Source||Beutler Lab|
|Gene Name||eosinophil peroxidase|
|Is this an essential gene?||Probably non essential (E-score: 0.079)|
|Stock #||R8313 (G1)|
|Chromosomal Location||87864000-87875536 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 87872731 bp|
|Amino Acid Change||Arginine to Glutamine at position 221 (R221Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050497 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049768]|
|Predicted Effect||possibly damaging
AA Change: R221Q
PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: R221Q
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the peroxidase superfamily of enzymes that is produced by eosinophils and plays a critical role in eliminating tissue-invasive parasites. The encoded preproprotein undergoes proteolytic processing to generate a heterodimeric enzyme that forms a predominant component of the intracellular granules of eosinophils. Mice lacking the encoded protein exhibit resistance to ulcerative colitis induced by dextran sulfate. [provided by RefSeq, Jul 2016]
PHENOTYPE: Targeted deletion of this gene results in ultrastructural changes of the eosinophil secondary granule but does not significantly alter the course of inflammation or development of allergic pulmonary pathologies in an ovalbumin-challenge model of pulmonary inflammation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Epx||
(F):5'- TTTCTGGGCTGGAAGCTACC -3'
(R):5'- TCTCTAACAACAGAAGAAGTGCCAG -3'
(F):5'- CCCAGAAACCTAGAAGGCTGG -3'
(R):5'- TGCCAGGAGGAGAGGGTG -3'