Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02361:Pxdn'

290482

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: 0.601) question?

Stock #

IGL02361

Quality Score

Status

Chromosome

Chromosomal Location

29987607-30067657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30049188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 618 (D618G)

Ref Sequence

ENSEMBL: ENSMUSP00000113703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122328] [ENSMUST00000220271]

AlphaFold

Q3UQ28

Predicted Effect

probably damaging
Transcript: ENSMUST00000122328
AA Change: D618G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: D618G

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: D438G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp1	A	C	6: 55,322,498 (GRCm39)	L164F	possibly damaging	Het
Bfsp1	T	C	2: 143,673,907 (GRCm39)	E261G	probably damaging	Het
Brinp2	A	G	1: 158,074,748 (GRCm39)	C458R	probably damaging	Het
Cacng3	T	G	7: 122,271,169 (GRCm39)	M58R	possibly damaging	Het
Cfap43	A	T	19: 47,885,852 (GRCm39)	C254*	probably null	Het
Cnga1	T	C	5: 72,774,061 (GRCm39)		probably null	Het
Dis3	A	T	14: 99,317,148 (GRCm39)	Y765*	probably null	Het
Dpep1	T	A	8: 123,926,957 (GRCm39)	S260R	probably benign	Het
Elmod1	A	G	9: 53,838,842 (GRCm39)	L106P	probably damaging	Het
Fut10	A	G	8: 31,691,398 (GRCm39)	Y81C	probably damaging	Het
Fzd10	T	A	5: 128,678,932 (GRCm39)	D217E	possibly damaging	Het
Gap43	T	C	16: 42,160,871 (GRCm39)		probably benign	Het
Gigyf1	T	C	5: 137,517,989 (GRCm39)		probably benign	Het
Gpc5	C	T	14: 115,370,699 (GRCm39)	R175*	probably null	Het
Gpi-ps	T	C	8: 5,690,896 (GRCm39)		noncoding transcript	Het
Kcna1	C	A	6: 126,619,869 (GRCm39)	Q150H	probably damaging	Het
Lama5	A	T	2: 179,835,677 (GRCm39)	C1225*	probably null	Het
Lrrc25	A	T	8: 71,070,477 (GRCm39)	D86V	probably benign	Het
Madd	A	T	2: 90,992,543 (GRCm39)	V1043E	probably benign	Het
Mov10	A	T	3: 104,711,437 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,782,250 (GRCm39)	H46L	possibly damaging	Het
Nek10	A	T	14: 14,843,856 (GRCm38)	Q193L	probably damaging	Het
Nos3	A	T	5: 24,572,621 (GRCm39)	I187F	probably damaging	Het
Or4c1	T	A	2: 89,133,526 (GRCm39)	M137L	probably benign	Het
Or5p53	T	A	7: 107,533,484 (GRCm39)	Y252*	probably null	Het
Or6c69c	A	G	10: 129,911,143 (GRCm39)	Y288C	probably damaging	Het
Pgap1	T	C	1: 54,551,975 (GRCm39)	T486A	probably benign	Het
Prdm9	C	T	17: 15,783,109 (GRCm39)	V58M	probably damaging	Het
Prkd2	A	G	7: 16,581,583 (GRCm39)	Y146C	probably damaging	Het
Psmd9	G	T	5: 123,386,379 (GRCm39)	R175I	probably damaging	Het
Rgs6	A	T	12: 82,665,393 (GRCm39)		probably benign	Het
Rrm2	G	T	12: 24,761,438 (GRCm39)		probably benign	Het
Shank3	T	C	15: 89,388,536 (GRCm39)	V376A	probably damaging	Het
Slc5a10	A	G	11: 61,610,666 (GRCm39)		probably null	Het
Slfn3	A	T	11: 83,104,068 (GRCm39)	Q313L	possibly damaging	Het
Sptbn1	A	T	11: 30,060,783 (GRCm39)	F2062L	probably damaging	Het
Tbc1d10a	T	C	11: 4,165,047 (GRCm39)	V500A	probably benign	Het
Tcea1	T	C	1: 4,966,570 (GRCm39)		probably benign	Het
Thsd7a	T	C	6: 12,348,192 (GRCm39)		probably benign	Het
Tm9sf4	C	T	2: 153,029,570 (GRCm39)	T173M	probably benign	Het
Tmtc2	T	C	10: 105,107,387 (GRCm39)	T709A	probably benign	Het
Zfp385b	T	C	2: 77,280,647 (GRCm39)	E97G	probably damaging	Het
Zim1	A	T	7: 6,685,873 (GRCm39)		probably null	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
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
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

2015-04-16