Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01338:Pxdn'

74705

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pxdn

Ensembl Gene

ENSMUSG00000020674

Gene Name

peroxidasin

Synonyms

2310075M15Rik, VPO1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

IGL01338

Quality Score

Status

Chromosome

Chromosomal Location

29987607-30067657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30052796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 811 (E811G)

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: E991G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: E991G

Domain	Start	End	E-Value	Type
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: ENSMUST00000126233

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218620

Predicted Effect

probably damaging
Transcript: ENSMUST00000220271
AA Change: E811G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,591,014 (GRCm39)	T494A	possibly damaging	Het
Adamts16	C	T	13: 70,984,234 (GRCm39)	C143Y	probably damaging	Het
Cacna1i	A	G	15: 80,232,581 (GRCm39)	I195V	probably damaging	Het
Casp7	T	C	19: 56,392,896 (GRCm39)	S17P	probably benign	Het
Cfap298	T	C	16: 90,722,936 (GRCm39)	N266S	possibly damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cpvl	T	A	6: 53,951,640 (GRCm39)	S48C	possibly damaging	Het
Cyp2b19	G	T	7: 26,458,842 (GRCm39)	M138I	probably benign	Het
Dennd5a	T	C	7: 109,518,611 (GRCm39)	Y510C	possibly damaging	Het
Derl2	A	G	11: 70,901,181 (GRCm39)	F229S	possibly damaging	Het
Dlec1	A	G	9: 118,949,979 (GRCm39)	E452G	probably damaging	Het
Dsc2	T	C	18: 20,180,214 (GRCm39)	K180E	probably benign	Het
Dus1l	G	A	11: 120,683,918 (GRCm39)	R177C	possibly damaging	Het
Egfr	A	G	11: 16,813,020 (GRCm39)	I167V	probably damaging	Het
Fam219b	A	T	9: 57,445,305 (GRCm39)		probably null	Het
Fn1	T	C	1: 71,665,369 (GRCm39)	E916G	probably damaging	Het
Gm2058	C	T	7: 39,238,580 (GRCm39)		noncoding transcript	Het
Gpd1	T	A	15: 99,616,056 (GRCm39)	V22E	probably damaging	Het
Hsf2	T	C	10: 57,377,475 (GRCm39)	F124L	probably damaging	Het
I0C0044D17Rik	A	G	4: 98,708,336 (GRCm39)		probably benign	Het
Igfbp3	A	T	11: 7,158,478 (GRCm39)	F262I	possibly damaging	Het
Klhl18	A	G	9: 110,284,501 (GRCm39)	Y62H	probably damaging	Het
Lama2	C	T	10: 27,064,268 (GRCm39)	E1238K	probably benign	Het
Man1b1	A	G	2: 25,228,239 (GRCm39)	K170E	probably benign	Het
Mcrs1	A	T	15: 99,147,382 (GRCm39)	I39N	probably damaging	Het
Mug2	T	C	6: 122,026,587 (GRCm39)		probably benign	Het
Neu3	C	A	7: 99,462,629 (GRCm39)	G365W	probably damaging	Het
Nipal3	A	C	4: 135,199,194 (GRCm39)		probably null	Het
Nrxn3	A	G	12: 89,221,804 (GRCm39)	I528V	possibly damaging	Het
Or10al6	A	T	17: 38,082,730 (GRCm39)	H71L	possibly damaging	Het
Osbpl8	A	G	10: 111,103,608 (GRCm39)	K204R	probably damaging	Het
Pax8	A	G	2: 24,325,931 (GRCm39)	S318P	possibly damaging	Het
Pcdh18	T	A	3: 49,710,590 (GRCm39)	N242Y	probably damaging	Het
Pkd1l2	T	A	8: 117,786,259 (GRCm39)	K649*	probably null	Het
Ppm1n	A	T	7: 19,013,179 (GRCm39)	D257E	probably benign	Het
Relb	T	C	7: 19,350,298 (GRCm39)	I218V	probably benign	Het
Rreb1	T	C	13: 38,115,010 (GRCm39)	C790R	probably damaging	Het
Rtkn2	G	T	10: 67,861,349 (GRCm39)	C258F	possibly damaging	Het
Scn11a	G	A	9: 119,613,227 (GRCm39)		probably benign	Het
Snx8	G	A	5: 140,343,851 (GRCm39)	R96C	probably damaging	Het
Syne2	A	T	12: 76,107,000 (GRCm39)	T5649S	possibly damaging	Het
Tm2d3	T	A	7: 65,344,970 (GRCm39)	C82*	probably null	Het
Tnpo2	T	C	8: 85,767,155 (GRCm39)	L55P	probably damaging	Het
Tsc22d2	T	C	3: 58,324,836 (GRCm39)		probably benign	Het
Ttll3	T	G	6: 113,371,690 (GRCm39)	V19G	probably damaging	Het
Ube2r2	A	G	4: 41,174,119 (GRCm39)	I86V	probably benign	Het
Vps13d	G	A	4: 144,814,892 (GRCm39)	T3153I	probably damaging	Het
Wwp1	A	G	4: 19,627,636 (GRCm39)	I753T	probably damaging	Het

Other mutations in Pxdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2013-10-07