Incidental Mutation 'R7211:Pxdn'
ID 561094
Institutional Source Beutler Lab
Gene Symbol Pxdn
Ensembl Gene ENSMUSG00000020674
Gene Name peroxidasin
Synonyms 2310075M15Rik, VPO1
MMRRC Submission 045339-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.601) question?
Stock # R7211 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 29987607-30067657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 30034903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 253 (D253E)
Ref Sequence ENSEMBL: ENSMUSP00000113703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118321] [ENSMUST00000122328] [ENSMUST00000220271]
AlphaFold Q3UQ28
Predicted Effect
SMART Domains Protein: ENSMUSP00000113477
Gene: ENSMUSG00000020674
AA Change: D229E

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LRRNT 32 63 2.52e-1 SMART
LRR 62 81 4.09e1 SMART
LRR_TYP 82 105 3.69e-4 SMART
LRR_TYP 106 129 1.45e-2 SMART
LRR_TYP 130 153 8.02e-5 SMART
LRR_TYP 154 177 1.06e-4 SMART
LRRCT 189 241 3.97e-5 SMART
IGc2 255 321 1.59e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122328
AA Change: D253E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: D253E

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LRRNT 32 63 2.52e-1 SMART
LRR 62 81 4.09e1 SMART
LRR_TYP 82 105 3.69e-4 SMART
LRR_TYP 106 129 1.45e-2 SMART
LRR_TYP 130 153 8.02e-5 SMART
LRR_TYP 154 177 1.06e-4 SMART
LRRCT 189 241 3.97e-5 SMART
IGc2 255 321 1.59e-15 SMART
IGc2 351 416 3.96e-16 SMART
IGc2 442 506 2.96e-15 SMART
IGc2 534 598 1.2e-15 SMART
Pfam:An_peroxidase 738 1286 1.1e-196 PFAM
VWC 1411 1466 8.8e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000220271
AA Change: D73E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (84/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit abnormal eye development with early-onset glaucoma and progressive retinal dysgenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T A 2: 154,887,699 (GRCm39) V53E probably damaging Het
A1cf A G 19: 31,904,541 (GRCm39) Y268C probably benign Het
Adam34l T A 8: 44,078,914 (GRCm39) S437C probably damaging Het
Adamts13 C T 2: 26,879,310 (GRCm39) T621I probably benign Het
Akr1b7 A T 6: 34,398,049 (GRCm39) N293Y probably benign Het
Angpt2 T A 8: 18,791,147 (GRCm39) T50S probably benign Het
Anks1b C A 10: 90,346,932 (GRCm39) A744D possibly damaging Het
Aqr A G 2: 113,965,204 (GRCm39) V587A probably benign Het
Atm A G 9: 53,399,860 (GRCm39) V1540A probably benign Het
Brd10 A G 19: 29,763,712 (GRCm39) F121S Het
C4b A G 17: 34,954,508 (GRCm39) V887A possibly damaging Het
Cd200r1 A G 16: 44,609,120 (GRCm39) T26A probably benign Het
Ciao1 A G 2: 127,088,928 (GRCm39) probably null Het
Clba1 T A 12: 112,774,632 (GRCm39) probably null Het
Clca3a2 A G 3: 144,519,775 (GRCm39) C200R probably benign Het
Col6a5 T A 9: 105,805,363 (GRCm39) Q1181L unknown Het
Copb2 T A 9: 98,456,198 (GRCm39) I244N probably damaging Het
Cpb2 A G 14: 75,512,430 (GRCm39) Y281C probably damaging Het
Disp3 C A 4: 148,325,979 (GRCm39) V1260F probably damaging Het
Dnajc2 C T 5: 21,981,777 (GRCm39) R123Q probably damaging Het
Dpysl2 T C 14: 67,067,425 (GRCm39) N162S probably damaging Het
Dsp T A 13: 38,372,511 (GRCm39) probably null Het
Edc4 T A 8: 106,612,941 (GRCm39) probably null Het
Efcab3 C A 11: 104,601,539 (GRCm39) A284D probably benign Het
Efcab3 G T 11: 104,615,435 (GRCm39) probably null Het
Epm2a T C 10: 11,219,419 (GRCm39) Y69H probably benign Het
Frzb C A 2: 80,248,669 (GRCm39) E262* probably null Het
Gaa T C 11: 119,175,030 (GRCm39) V877A possibly damaging Het
Gpnmb T C 6: 49,028,949 (GRCm39) I489T possibly damaging Het
Gpr31b T C 17: 13,271,104 (GRCm39) T22A probably benign Het
Gys1 T A 7: 45,097,684 (GRCm39) F477Y possibly damaging Het
Hoxc11 A C 15: 102,863,487 (GRCm39) E176A possibly damaging Het
Kcnk13 T A 12: 100,028,076 (GRCm39) F384I probably damaging Het
Ky A G 9: 102,386,349 (GRCm39) E59G probably benign Het
Lama4 T A 10: 38,881,491 (GRCm39) D93E probably damaging Het
Lrrc23 A T 6: 124,755,152 (GRCm39) N128K probably benign Het
Lrrc71 G T 3: 87,650,633 (GRCm39) Q210K possibly damaging Het
Map1a G A 2: 121,135,124 (GRCm39) R1980H probably benign Het
Med15 T C 16: 17,515,977 (GRCm39) D15G unknown Het
Mfng A T 15: 78,657,268 (GRCm39) S69T probably benign Het
Muc16 T G 9: 18,409,866 (GRCm39) S181R probably damaging Het
Mug1 A T 6: 121,857,498 (GRCm39) Q1074L possibly damaging Het
Myorg A G 4: 41,498,028 (GRCm39) I534T probably damaging Het
Nbea T A 3: 55,912,322 (GRCm39) N1155I probably benign Het
Nbeal1 T G 1: 60,240,110 (GRCm39) L159V probably damaging Het
Nudt1 C A 5: 140,323,402 (GRCm39) P118Q possibly damaging Het
Or2q1 A T 6: 42,794,950 (GRCm39) T182S probably benign Het
Or8g37 A C 9: 39,731,154 (GRCm39) Q73P possibly damaging Het
Pcdhga6 T A 18: 37,842,173 (GRCm39) V631D probably benign Het
Pcna A C 2: 132,091,792 (GRCm39) V203G probably damaging Het
Pgf G T 12: 85,222,549 (GRCm39) N33K probably benign Het
Pgm2 T C 5: 64,263,193 (GRCm39) L280P probably damaging Het
Plcg1 G A 2: 160,573,794 (GRCm39) A20T probably benign Het
Pou2af2 G T 9: 51,201,733 (GRCm39) Q108K probably damaging Het
Prdx5 G T 19: 6,884,958 (GRCm39) D126E probably damaging Het
Prkag2 T C 5: 25,200,296 (GRCm39) T20A probably benign Het
Prr14l T A 5: 32,987,431 (GRCm39) Q688L probably damaging Het
Rbm18 A T 2: 36,012,905 (GRCm39) C53* probably null Het
Rprm A T 2: 53,975,270 (GRCm39) L16Q probably benign Het
Saysd1 A G 14: 20,127,576 (GRCm39) F116S probably damaging Het
Scg3 A G 9: 75,589,366 (GRCm39) S96P probably benign Het
Scgb1b3 C T 7: 31,075,078 (GRCm39) L16F unknown Het
Sh3tc2 A G 18: 62,122,474 (GRCm39) T412A probably benign Het
Skint6 T C 4: 113,095,566 (GRCm39) N31S probably benign Het
Slc22a2 T C 17: 12,805,770 (GRCm39) probably null Het
Slc8a2 C T 7: 15,874,538 (GRCm39) T262I possibly damaging Het
Smarcc1 A T 9: 109,979,082 (GRCm39) K188N probably damaging Het
Taf6 T C 5: 138,177,088 (GRCm39) T660A possibly damaging Het
Tbx2 C T 11: 85,725,540 (GRCm39) R164C probably damaging Het
Tec T C 5: 72,939,355 (GRCm39) D220G probably null Het
Tfec A T 6: 16,867,464 (GRCm39) W59R probably damaging Het
Tmtc2 G T 10: 105,409,587 (GRCm39) S8R probably benign Het
Tmtc3 A T 10: 100,283,467 (GRCm39) M696K probably benign Het
Trpc3 A T 3: 36,694,882 (GRCm39) S691T possibly damaging Het
Ttf2 A T 3: 100,866,623 (GRCm39) M503K probably benign Het
Ttll7 A G 3: 146,619,031 (GRCm39) H312R probably damaging Het
Ttn T C 2: 76,598,032 (GRCm39) Y19627C probably damaging Het
Ugt2b35 T C 5: 87,149,177 (GRCm39) S143P probably benign Het
Usp53 A G 3: 122,751,299 (GRCm39) S253P probably damaging Het
Utp18 A G 11: 93,776,206 (GRCm39) V93A probably benign Het
Utrn T C 10: 12,277,079 (GRCm39) N3413D possibly damaging Het
Zhx1 T C 15: 57,916,647 (GRCm39) D533G possibly damaging Het
Other mutations in Pxdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Pxdn APN 12 30,037,098 (GRCm39) missense probably damaging 1.00
IGL01152:Pxdn APN 12 30,051,936 (GRCm39) missense probably damaging 0.99
IGL01286:Pxdn APN 12 30,032,753 (GRCm39) missense probably benign 0.04
IGL01323:Pxdn APN 12 30,037,136 (GRCm39) missense probably benign 0.00
IGL01338:Pxdn APN 12 30,052,796 (GRCm39) missense probably damaging 1.00
IGL01341:Pxdn APN 12 30,052,486 (GRCm39) missense probably damaging 1.00
IGL01401:Pxdn APN 12 30,051,983 (GRCm39) missense probably damaging 1.00
IGL01580:Pxdn APN 12 30,034,492 (GRCm39) missense probably benign 0.18
IGL01650:Pxdn APN 12 30,052,400 (GRCm39) missense probably benign 0.01
IGL01679:Pxdn APN 12 30,049,901 (GRCm39) missense probably damaging 0.97
IGL01866:Pxdn APN 12 30,034,570 (GRCm39) missense probably benign 0.02
IGL02354:Pxdn APN 12 30,049,188 (GRCm39) missense probably damaging 1.00
IGL02361:Pxdn APN 12 30,049,188 (GRCm39) missense probably damaging 1.00
IGL02427:Pxdn APN 12 30,034,531 (GRCm39) missense probably damaging 1.00
IGL02955:Pxdn APN 12 30,053,156 (GRCm39) missense probably damaging 1.00
IGL03079:Pxdn APN 12 30,052,997 (GRCm39) missense probably damaging 0.97
IGL03111:Pxdn APN 12 30,032,755 (GRCm39) missense probably damaging 0.99
IGL02988:Pxdn UTSW 12 30,053,113 (GRCm39) nonsense probably null
PIT4280001:Pxdn UTSW 12 30,045,327 (GRCm39) missense probably damaging 0.99
PIT4469001:Pxdn UTSW 12 30,055,828 (GRCm39) missense probably benign 0.00
R0070:Pxdn UTSW 12 30,032,726 (GRCm39) missense probably damaging 0.99
R0070:Pxdn UTSW 12 30,032,726 (GRCm39) missense probably damaging 0.99
R0086:Pxdn UTSW 12 30,052,418 (GRCm39) missense possibly damaging 0.95
R0140:Pxdn UTSW 12 30,032,753 (GRCm39) missense probably benign 0.04
R0201:Pxdn UTSW 12 30,052,430 (GRCm39) missense possibly damaging 0.79
R0282:Pxdn UTSW 12 30,034,439 (GRCm39) nonsense probably null
R0310:Pxdn UTSW 12 30,065,528 (GRCm39) missense probably damaging 1.00
R0426:Pxdn UTSW 12 30,037,065 (GRCm39) missense possibly damaging 0.89
R0468:Pxdn UTSW 12 30,044,485 (GRCm39) missense probably damaging 0.99
R0825:Pxdn UTSW 12 30,034,995 (GRCm39) splice site probably benign
R0885:Pxdn UTSW 12 30,053,401 (GRCm39) missense probably benign 0.30
R1420:Pxdn UTSW 12 30,052,067 (GRCm39) missense probably damaging 1.00
R1588:Pxdn UTSW 12 30,052,558 (GRCm39) missense probably damaging 1.00
R2269:Pxdn UTSW 12 30,055,774 (GRCm39) missense probably damaging 0.97
R2280:Pxdn UTSW 12 30,034,905 (GRCm39) missense probably damaging 0.98
R2504:Pxdn UTSW 12 30,053,405 (GRCm39) missense probably damaging 1.00
R2679:Pxdn UTSW 12 30,025,568 (GRCm39) splice site probably benign
R3116:Pxdn UTSW 12 30,052,306 (GRCm39) missense possibly damaging 0.89
R3607:Pxdn UTSW 12 30,040,917 (GRCm39) missense probably benign 0.04
R4033:Pxdn UTSW 12 30,053,224 (GRCm39) missense probably benign 0.19
R4576:Pxdn UTSW 12 30,061,922 (GRCm39) missense probably benign
R4659:Pxdn UTSW 12 30,044,552 (GRCm39) missense probably benign 0.01
R4681:Pxdn UTSW 12 30,062,325 (GRCm39) missense probably benign 0.45
R4968:Pxdn UTSW 12 30,050,011 (GRCm39) missense probably benign 0.25
R5032:Pxdn UTSW 12 30,053,140 (GRCm39) missense probably benign 0.08
R5232:Pxdn UTSW 12 30,040,987 (GRCm39) missense probably benign 0.08
R5366:Pxdn UTSW 12 30,052,899 (GRCm39) missense probably damaging 1.00
R5504:Pxdn UTSW 12 30,052,800 (GRCm39) missense probably damaging 1.00
R5586:Pxdn UTSW 12 30,053,141 (GRCm39) missense probably damaging 0.99
R5739:Pxdn UTSW 12 30,032,333 (GRCm39) missense probably benign 0.03
R5877:Pxdn UTSW 12 30,053,045 (GRCm39) missense probably damaging 1.00
R6167:Pxdn UTSW 12 30,024,000 (GRCm39) missense probably damaging 1.00
R6191:Pxdn UTSW 12 30,032,716 (GRCm39) missense possibly damaging 0.94
R6200:Pxdn UTSW 12 30,053,111 (GRCm39) missense probably damaging 1.00
R6609:Pxdn UTSW 12 30,052,940 (GRCm39) missense probably benign 0.00
R6628:Pxdn UTSW 12 30,049,917 (GRCm39) missense probably damaging 1.00
R6865:Pxdn UTSW 12 30,064,582 (GRCm39) splice site probably null
R6921:Pxdn UTSW 12 30,065,504 (GRCm39) missense probably damaging 0.96
R6995:Pxdn UTSW 12 30,045,370 (GRCm39) missense possibly damaging 0.95
R7220:Pxdn UTSW 12 30,044,479 (GRCm39) missense probably benign 0.02
R7347:Pxdn UTSW 12 30,062,260 (GRCm39) missense probably benign 0.01
R7402:Pxdn UTSW 12 30,052,438 (GRCm39) missense probably damaging 1.00
R7408:Pxdn UTSW 12 30,040,944 (GRCm39) missense probably benign 0.29
R7413:Pxdn UTSW 12 30,052,927 (GRCm39) missense probably benign 0.00
R7447:Pxdn UTSW 12 30,034,926 (GRCm39) missense probably damaging 1.00
R7572:Pxdn UTSW 12 30,056,704 (GRCm39) missense probably damaging 1.00
R7708:Pxdn UTSW 12 30,056,601 (GRCm39) missense probably damaging 0.99
R7815:Pxdn UTSW 12 30,055,824 (GRCm39) missense probably damaging 0.96
R7972:Pxdn UTSW 12 30,056,601 (GRCm39) missense probably damaging 0.99
R8097:Pxdn UTSW 12 30,056,601 (GRCm39) missense probably damaging 0.99
R8098:Pxdn UTSW 12 30,056,601 (GRCm39) missense probably damaging 0.99
R8205:Pxdn UTSW 12 30,056,566 (GRCm39) missense probably damaging 1.00
R8262:Pxdn UTSW 12 30,049,195 (GRCm39) nonsense probably null
R8335:Pxdn UTSW 12 30,052,096 (GRCm39) missense probably damaging 0.99
R8356:Pxdn UTSW 12 30,061,889 (GRCm39) missense probably damaging 0.99
R8437:Pxdn UTSW 12 30,052,043 (GRCm39) missense probably damaging 1.00
R8456:Pxdn UTSW 12 30,061,889 (GRCm39) missense probably damaging 0.99
R8709:Pxdn UTSW 12 30,056,601 (GRCm39) missense probably damaging 0.99
R8772:Pxdn UTSW 12 30,065,463 (GRCm39) missense probably damaging 1.00
R8903:Pxdn UTSW 12 30,040,992 (GRCm39) missense probably benign
R9310:Pxdn UTSW 12 30,052,051 (GRCm39) missense probably damaging 1.00
R9487:Pxdn UTSW 12 30,044,552 (GRCm39) missense possibly damaging 0.90
Z1177:Pxdn UTSW 12 30,040,851 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCACGTTGCAGAGGAAGGC -3'
(R):5'- ATTTATCAAGGGTGGGGAGC -3'

Sequencing Primer
(F):5'- GAAGGCTTGTCTTCCATCACCG -3'
(R):5'- AGCCAGATGATCTCAGGT -3'
Posted On 2019-06-26