Incidental Mutation 'R7815:Pxdn'
ID 601480
Institutional Source Beutler Lab
Gene Symbol Pxdn
Ensembl Gene ENSMUSG00000020674
Gene Name peroxidasin
Synonyms 2310075M15Rik, VPO1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.601) question?
Stock # R7815 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 29987607-30067657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30055824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1057 (F1057L)
Ref Sequence ENSEMBL: ENSMUSP00000151320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122328] [ENSMUST00000220271]
AlphaFold Q3UQ28
Predicted Effect probably damaging
Transcript: ENSMUST00000122328
AA Change: F1237L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: F1237L

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 probably damaging
Transcript: ENSMUST00000220271
AA Change: F1057L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,818,866 (GRCm39) D1285G probably benign Het
Abcc9 A G 6: 142,598,331 (GRCm39) V669A probably damaging Het
Ajap1 C A 4: 153,517,288 (GRCm39) G18C probably damaging Het
Alms1 G T 6: 85,592,340 (GRCm39) M397I probably benign Het
Ampd2 A T 3: 107,982,247 (GRCm39) M794K probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Casz1 A T 4: 149,013,762 (GRCm39) I109F possibly damaging Het
Ces5a G A 8: 94,247,623 (GRCm39) S297F possibly damaging Het
Col7a1 A G 9: 108,798,633 (GRCm39) D1762G probably damaging Het
Dsp A T 13: 38,375,446 (GRCm39) Y1077F probably benign Het
Eef2k A G 7: 120,457,793 (GRCm39) N51D probably benign Het
Erbb4 A G 1: 68,081,885 (GRCm39) Y1050H probably damaging Het
Fpgt A T 3: 154,792,289 (GRCm39) S579R probably benign Het
Gabra4 T A 5: 71,815,152 (GRCm39) M1L possibly damaging Het
Galk2 G A 2: 125,817,321 (GRCm39) S370N probably damaging Het
Gpr155 T A 2: 73,192,904 (GRCm39) T516S probably benign Het
Homez T C 14: 55,095,675 (GRCm39) N11S probably benign Het
Hspg2 G A 4: 137,239,775 (GRCm39) G494D probably damaging Het
Htr3b C T 9: 48,856,833 (GRCm39) R215Q probably benign Het
Igfbp4 A G 11: 98,932,654 (GRCm39) E111G probably benign Het
Igkv8-19 T C 6: 70,318,420 (GRCm39) T5A probably benign Het
Insrr A G 3: 87,716,002 (GRCm39) K566E probably damaging Het
Iqsec3 A G 6: 121,450,317 (GRCm39) V69A probably benign Het
Kdm5d T C Y: 940,702 (GRCm39) V1071A probably damaging Het
Kif28 A G 1: 179,563,548 (GRCm39) C143R probably damaging Het
Kpna6 T C 4: 129,551,590 (GRCm39) M65V probably benign Het
L3mbtl3 T C 10: 26,156,276 (GRCm39) S669G unknown Het
Man1a2 A T 3: 100,563,495 (GRCm39) I50N probably damaging Het
Map3k11 A T 19: 5,745,667 (GRCm39) M356L possibly damaging Het
Meioc A T 11: 102,566,414 (GRCm39) N677Y probably damaging Het
Myom3 A T 4: 135,528,674 (GRCm39) K1108M possibly damaging Het
Nav1 C T 1: 135,512,377 (GRCm39) E228K possibly damaging Het
Ncapd3 G A 9: 26,974,736 (GRCm39) W736* probably null Het
Nfkb1 T C 3: 135,309,552 (GRCm39) D514G probably damaging Het
Nnt T A 13: 119,494,111 (GRCm39) T657S possibly damaging Het
Or4k5 A G 14: 50,386,253 (GRCm39) F26S probably benign Het
Or51b4 A G 7: 103,530,992 (GRCm39) S153P probably benign Het
Oser1 A T 2: 163,253,336 (GRCm39) S58T possibly damaging Het
Pcdha5 T A 18: 37,094,556 (GRCm39) I355N possibly damaging Het
Pllp C G 8: 95,402,804 (GRCm39) G99A probably damaging Het
Pram1 A G 17: 33,861,106 (GRCm39) N509S probably benign Het
Prkd1 A C 12: 50,472,300 (GRCm39) N204K probably damaging Het
Prss23 G A 7: 89,159,253 (GRCm39) P272L probably damaging Het
Rapgef5 T A 12: 117,719,702 (GRCm39) S777R probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rfx3 A T 19: 27,803,448 (GRCm39) M265K probably benign Het
S100a7a C A 3: 90,565,119 (GRCm39) H105N probably benign Het
Serpinb3b T C 1: 107,084,625 (GRCm39) D132G probably damaging Het
Sp7 T A 15: 102,274,822 (GRCm39) probably benign Het
Tacstd2 A G 6: 67,512,140 (GRCm39) F184S possibly damaging Het
Trdc C A 14: 54,381,259 (GRCm39) probably benign Het
Trpa1 T A 1: 14,974,486 (GRCm39) H232L probably benign Het
Trpc3 G T 3: 36,709,294 (GRCm39) T394K probably benign Het
Tuba3b G A 6: 145,566,847 (GRCm39) V363I possibly damaging Het
Tubb2a C A 13: 34,258,962 (GRCm39) R276L probably benign Het
Ubap2l A T 3: 89,951,071 (GRCm39) L72* probably null Het
Vps13a A T 19: 16,702,936 (GRCm39) D672E probably damaging Het
Wdr26 A G 1: 181,036,638 (GRCm39) V166A probably benign Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Xirp2 G A 2: 67,339,756 (GRCm39) G666R probably damaging Het
Zfp131 T C 13: 120,237,516 (GRCm39) K247E probably 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
R7211:Pxdn UTSW 12 30,034,903 (GRCm39) missense possibly damaging 0.77
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
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'- TCCAGGAAATGTCTGGAGGATG -3'
(R):5'- CTCAGGTGTGTTAGCCTGAAAG -3'

Sequencing Primer
(F):5'- CCAGGAAATGTCTGGAGGATGTATGG -3'
(R):5'- CCTGAAAGGGTAAGGTGCC -3'
Posted On 2019-12-03