Incidental Mutation 'R5083:Epx'
ID 387270
Institutional Source Beutler Lab
Gene Symbol Epx
Ensembl Gene ENSMUSG00000052234
Gene Name eosinophil peroxidase
Synonyms EPO
MMRRC Submission 042672-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R5083 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 87754826-87766362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87763506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 238 (F238S)
Ref Sequence ENSEMBL: ENSMUSP00000050497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049768]
AlphaFold P49290
Predicted Effect probably damaging
Transcript: ENSMUST00000049768
AA Change: F238S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050497
Gene: ENSMUSG00000052234
AA Change: F238S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:An_peroxidase 146 690 8.3e-184 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125590
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype 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
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik C T 17: 48,473,558 (GRCm39) V120M possibly damaging Het
Abca6 T C 11: 110,109,793 (GRCm39) D646G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Arid1b A G 17: 5,364,293 (GRCm39) T554A possibly damaging Het
Atp2a3 G T 11: 72,873,652 (GRCm39) V824L probably null Het
Bet1 T C 6: 4,077,895 (GRCm39) I115V possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cfap65 A G 1: 74,945,600 (GRCm39) S1373P probably damaging Het
Chd9 T C 8: 91,711,002 (GRCm39) L353P probably damaging Het
Chil3 C A 3: 106,071,405 (GRCm39) probably null Het
Comp C T 8: 70,833,950 (GRCm39) T655M probably damaging Het
Dctd T C 8: 48,564,751 (GRCm39) Y18H probably damaging Het
Ddx39b G A 17: 35,472,005 (GRCm39) G348D possibly damaging Het
Dhx36 A T 3: 62,379,420 (GRCm39) S889R probably benign Het
Dtx2 T C 5: 136,041,044 (GRCm39) Y150H probably damaging Het
Ergic2 T C 6: 148,097,512 (GRCm39) T154A probably benign Het
Esco1 A G 18: 10,594,734 (GRCm39) I184T probably benign Het
Esf1 G T 2: 139,998,991 (GRCm39) A495E possibly damaging Het
Esf1 T C 2: 140,000,499 (GRCm39) Y429C possibly damaging Het
Fcho1 C A 8: 72,169,820 (GRCm39) R101L probably benign Het
Foxn4 T A 5: 114,394,988 (GRCm39) D313V probably damaging Het
Gm11568 T C 11: 99,748,798 (GRCm39) M1T probably null Het
Gphn T A 12: 78,670,063 (GRCm39) probably null Het
Grid2 C T 6: 64,297,136 (GRCm39) Q500* probably null Het
Igsf10 A G 3: 59,233,694 (GRCm39) S1680P probably damaging Het
Ints12 T C 3: 132,806,538 (GRCm39) M155T possibly damaging Het
Invs A T 4: 48,396,307 (GRCm39) M327L possibly damaging Het
Kdm3a T C 6: 71,598,346 (GRCm39) E180G probably damaging Het
Mgat3 G A 15: 80,095,499 (GRCm39) V109M possibly damaging Het
Mrgprb3 A G 7: 48,292,762 (GRCm39) V263A probably benign Het
Mroh7 A T 4: 106,547,515 (GRCm39) V1109D probably benign Het
Myo15b A T 11: 115,757,482 (GRCm39) T1111S probably benign Het
Myo19 G T 11: 84,794,037 (GRCm39) A654S possibly damaging Het
Mypn A T 10: 62,954,307 (GRCm39) V1224D probably damaging Het
Nalcn A G 14: 123,560,706 (GRCm39) probably null Het
Or2a52 G T 6: 43,144,273 (GRCm39) A94S probably benign Het
Or52e7 A T 7: 104,684,618 (GRCm39) Y71F probably damaging Het
Or8c10 G A 9: 38,279,358 (GRCm39) C172Y possibly damaging Het
Pdcd2 A G 17: 15,743,084 (GRCm39) I247T possibly damaging Het
Pik3c2a A T 7: 115,941,636 (GRCm39) N1571K probably damaging Het
Plagl2 T C 2: 153,077,964 (GRCm39) T6A probably benign Het
Ros1 T A 10: 52,040,037 (GRCm39) Y318F possibly damaging Het
Sdccag8 C A 1: 176,652,458 (GRCm39) H70N probably damaging Het
Skint1 A G 4: 111,886,630 (GRCm39) R359G probably benign Het
Slc44a5 A T 3: 153,953,424 (GRCm39) I269L probably benign Het
Slfn10-ps T A 11: 82,921,341 (GRCm39) noncoding transcript Het
Suclg1 C A 6: 73,240,963 (GRCm39) T164K probably benign Het
Tgds C A 14: 118,353,491 (GRCm39) probably null Het
Ttn T C 2: 76,643,877 (GRCm39) D13117G probably damaging Het
Ttn T C 2: 76,701,081 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,483,671 (GRCm39) I843N possibly damaging Het
Vmn2r52 A T 7: 9,893,392 (GRCm39) Y582* probably null Het
Vps33b G T 7: 79,924,389 (GRCm39) K65N probably damaging Het
Zfp1010 A G 2: 176,957,364 (GRCm39) F45L probably damaging Het
Other mutations in Epx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Epx APN 11 87,760,751 (GRCm39) missense probably damaging 1.00
IGL01723:Epx APN 11 87,760,228 (GRCm39) missense probably damaging 1.00
IGL02096:Epx APN 11 87,760,294 (GRCm39) missense probably damaging 1.00
IGL02423:Epx APN 11 87,762,144 (GRCm39) missense possibly damaging 0.85
K7371:Epx UTSW 11 87,755,710 (GRCm39) missense probably damaging 1.00
R1018:Epx UTSW 11 87,760,129 (GRCm39) missense probably benign 0.05
R1607:Epx UTSW 11 87,759,538 (GRCm39) missense probably damaging 1.00
R2017:Epx UTSW 11 87,765,163 (GRCm39) missense probably damaging 1.00
R2030:Epx UTSW 11 87,755,650 (GRCm39) missense probably damaging 1.00
R3838:Epx UTSW 11 87,765,656 (GRCm39) missense probably damaging 1.00
R4417:Epx UTSW 11 87,760,256 (GRCm39) nonsense probably null
R5712:Epx UTSW 11 87,765,679 (GRCm39) nonsense probably null
R5935:Epx UTSW 11 87,756,318 (GRCm39) missense probably damaging 1.00
R6830:Epx UTSW 11 87,759,452 (GRCm39) missense probably damaging 1.00
R6857:Epx UTSW 11 87,760,781 (GRCm39) nonsense probably null
R6984:Epx UTSW 11 87,759,424 (GRCm39) missense probably damaging 1.00
R7031:Epx UTSW 11 87,766,349 (GRCm39) start gained probably benign
R7652:Epx UTSW 11 87,766,160 (GRCm39) critical splice donor site probably null
R7667:Epx UTSW 11 87,765,137 (GRCm39) missense probably damaging 0.98
R7969:Epx UTSW 11 87,763,547 (GRCm39) missense probably benign 0.01
R8313:Epx UTSW 11 87,763,557 (GRCm39) missense possibly damaging 0.71
R8559:Epx UTSW 11 87,755,618 (GRCm39) missense probably damaging 0.99
R9030:Epx UTSW 11 87,763,470 (GRCm39) missense probably benign
R9629:Epx UTSW 11 87,755,651 (GRCm39) missense probably damaging 1.00
X0065:Epx UTSW 11 87,756,301 (GRCm39) missense probably benign 0.03
Z1177:Epx UTSW 11 87,763,593 (GRCm39) missense probably benign 0.00
Z1177:Epx UTSW 11 87,760,720 (GRCm39) missense possibly damaging 0.56
Z1177:Epx UTSW 11 87,760,087 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCAGTCCAATGGGTCAAGG -3'
(R):5'- TTGGTCTTAGTACCTGGCCC -3'

Sequencing Primer
(F):5'- AATGGGTCAAGGCCTGC -3'
(R):5'- TTAGTACCTGGCCCTGACG -3'
Posted On 2016-06-06