Incidental Mutation 'R5739:Pxdn'
ID 444708
Institutional Source Beutler Lab
Gene Symbol Pxdn
Ensembl Gene ENSMUSG00000020674
Gene Name peroxidasin
Synonyms 2310075M15Rik, VPO1
MMRRC Submission 043351-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.618) question?
Stock # R5739 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 29987607-30067657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30032333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 150 (S150T)
Ref Sequence ENSEMBL: ENSMUSP00000113703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118321] [ENSMUST00000122328] [ENSMUST00000220271]
AlphaFold Q3UQ28
Predicted Effect probably benign
Transcript: ENSMUST00000118321
AA Change: S126T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113477
Gene: ENSMUSG00000020674
AA Change: S126T

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 probably benign
Transcript: ENSMUST00000122328
AA Change: S150T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: S150T

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 noncoding transcript
Transcript: ENSMUST00000155318
Predicted Effect probably benign
Transcript: ENSMUST00000220271
Meta Mutation Damage Score 0.0934 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (82/82)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,220,717 (GRCm39) S50T probably benign Het
A930011G23Rik A G 5: 99,369,289 (GRCm39) L529P probably damaging Het
Acer2 A T 4: 86,818,792 (GRCm39) N147Y probably damaging Het
Adamtsl1 A G 4: 86,150,901 (GRCm39) E353G probably damaging Het
Alg6 T C 4: 99,632,737 (GRCm39) F60L probably benign Het
Ano6 A T 15: 95,811,260 (GRCm39) D120V probably damaging Het
Armc3 A G 2: 19,258,728 (GRCm39) D265G possibly damaging Het
Aurkc A T 7: 7,005,859 (GRCm39) Y249F probably benign Het
Bmal1 G A 7: 112,884,238 (GRCm39) R92Q probably damaging Het
Cacna2d2 A G 9: 107,389,528 (GRCm39) I274V probably benign Het
Camk2n2 C A 16: 20,439,830 (GRCm39) G39C probably damaging Het
Ccdc39 A G 3: 33,880,710 (GRCm39) L419P possibly damaging Het
Cdh23 T C 10: 60,141,388 (GRCm39) M3117V probably damaging Het
Celsr3 A G 9: 108,704,357 (GRCm39) E280G probably benign Het
Cherp TGCTGGTGGTGGGG TG 8: 73,221,659 (GRCm39) probably benign Het
Clcn6 A G 4: 148,098,646 (GRCm39) V494A probably damaging Het
Col19a1 C T 1: 24,376,996 (GRCm39) G450S probably damaging Het
Crb2 T G 2: 37,683,666 (GRCm39) V1056G probably damaging Het
Crtac1 A G 19: 42,290,612 (GRCm39) F363S probably damaging Het
Dipk2a A T 9: 94,402,594 (GRCm39) V356E possibly damaging Het
Dnaaf2 T C 12: 69,243,715 (GRCm39) S449G probably benign Het
Dnah7b A T 1: 46,273,152 (GRCm39) I2427F probably damaging Het
Dnah8 T A 17: 30,937,981 (GRCm39) D1619E probably benign Het
Dock3 A T 9: 106,850,995 (GRCm39) S836T possibly damaging Het
Donson A T 16: 91,478,117 (GRCm39) probably null Het
Drc3 G A 11: 60,265,956 (GRCm39) R215H possibly damaging Het
Entpd2 T C 2: 25,289,504 (GRCm39) S329P possibly damaging Het
Eya2 T C 2: 165,603,857 (GRCm39) S332P probably damaging Het
Fam83f T A 15: 80,576,206 (GRCm39) Y286N probably damaging Het
Fat4 T C 3: 39,037,283 (GRCm39) V3645A probably benign Het
G2e3 T C 12: 51,419,287 (GRCm39) F668L possibly damaging Het
Gm14403 T A 2: 177,201,040 (GRCm39) C329S probably damaging Het
Hmcn1 G A 1: 150,684,448 (GRCm39) T374I probably benign Het
Hmcn1 A T 1: 150,634,225 (GRCm39) probably null Het
Hrnr T C 3: 93,230,436 (GRCm39) S225P unknown Het
Ifi202b C T 1: 173,798,918 (GRCm39) probably null Het
Il10ra A T 9: 45,167,368 (GRCm39) D394E possibly damaging Het
Itga2b A T 11: 102,356,735 (GRCm39) D275E probably benign Het
Jaml A T 9: 45,000,026 (GRCm39) D108V probably damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrrtm1 T C 6: 77,221,872 (GRCm39) V443A probably damaging Het
Mkln1 T A 6: 31,473,637 (GRCm39) S126R probably benign Het
Myo19 T C 11: 84,788,450 (GRCm39) I354T probably damaging Het
Nucb1 A T 7: 45,151,084 (GRCm39) L99Q probably damaging Het
Or4f59 A G 2: 111,873,128 (GRCm39) F83S probably damaging Het
Pask A G 1: 93,249,778 (GRCm39) S541P probably benign Het
Pdpr A T 8: 111,861,252 (GRCm39) I749F possibly damaging Het
Pgap6 T A 17: 26,339,425 (GRCm39) F580I probably damaging Het
Phyhipl T C 10: 70,395,399 (GRCm39) D269G possibly damaging Het
Pkdcc A G 17: 83,523,223 (GRCm39) D110G probably benign Het
Ppox A G 1: 171,107,570 (GRCm39) L115P probably damaging Het
Ppp1r12c A G 7: 4,500,281 (GRCm39) L94P probably damaging Het
Ppp6r2 T A 15: 89,143,276 (GRCm39) M141K probably benign Het
Prl3d1 A T 13: 27,283,995 (GRCm39) H188L probably benign Het
Psmb3 T A 11: 97,604,296 (GRCm39) probably benign Het
Ripor3 T C 2: 167,823,203 (GRCm39) T903A probably damaging Het
Rnase4 T C 14: 51,342,306 (GRCm39) L10S probably benign Het
Rnf224 T C 2: 25,126,012 (GRCm39) T114A probably benign Het
Rp1l1 A T 14: 64,269,619 (GRCm39) E1735V probably benign Het
Rrp1b T A 17: 32,264,950 (GRCm39) Y60N probably damaging Het
Rsbn1l A T 5: 21,110,814 (GRCm39) V508E probably damaging Het
Rubcnl T C 14: 75,278,381 (GRCm39) probably null Het
Rxfp4 A G 3: 88,559,209 (GRCm39) probably benign Het
Sdccag8 A G 1: 176,653,797 (GRCm39) T85A probably benign Het
Slc46a1 A T 11: 78,357,975 (GRCm39) I343F possibly damaging Het
Ssh2 A G 11: 77,340,639 (GRCm39) D597G probably damaging Het
Syne2 T A 12: 76,044,239 (GRCm39) V3942E possibly damaging Het
Timd4 T C 11: 46,708,573 (GRCm39) S200P probably benign Het
Tmc5 G A 7: 118,265,834 (GRCm39) probably null Het
Trbv16 A G 6: 41,129,013 (GRCm39) T66A probably benign Het
Ttc3 A T 16: 94,240,183 (GRCm39) K1103* probably null Het
Ttc7b A G 12: 100,350,492 (GRCm39) V458A probably damaging Het
Ubxn10 A G 4: 138,448,134 (GRCm39) S181P probably benign Het
Vmn2r11 A G 5: 109,207,114 (GRCm39) probably null Het
Vmn2r26 A T 6: 124,002,925 (GRCm39) N112Y probably benign Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zc3h10 T C 10: 128,380,670 (GRCm39) N229S probably benign Het
Zfp407 T C 18: 84,226,867 (GRCm39) *2247W probably null Het
Zfyve1 C A 12: 83,621,910 (GRCm39) V162L 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
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
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'- TCCAAGTACAAGGCAGCCTG -3'
(R):5'- ATGAGTGGATTTGACAGCTATGTGC -3'

Sequencing Primer
(F):5'- CTTGCCTCCATACACCGGG -3'
(R):5'- CCGAAGCATCATGGAAGT -3'
Posted On 2016-11-21