Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02955:Pxdn'

365069

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 #

IGL02955

Quality Score

Status

Chromosome

Chromosomal Location

29987607-30067657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30053156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 931 (I931T)

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: I1111T

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

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: I1111T

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: I931T

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	A	11: 76,309,991 (GRCm39)	H840L	probably damaging	Het
Anks1	A	G	17: 28,273,291 (GRCm39)	D970G	probably damaging	Het
B4galnt4	A	G	7: 140,644,591 (GRCm39)	K162R	probably null	Het
Bicd2	T	C	13: 49,531,691 (GRCm39)	V311A	probably benign	Het
Cblif	T	C	19: 11,725,027 (GRCm39)	L6P	possibly damaging	Het
Ccdc162	A	G	10: 41,437,123 (GRCm39)	L489P	probably damaging	Het
Cd55	G	T	1: 130,377,219 (GRCm39)	T38K	probably damaging	Het
Cep250	C	A	2: 155,817,676 (GRCm39)	A749E	probably benign	Het
Cntn3	G	T	6: 102,255,262 (GRCm39)	T212N	probably damaging	Het
Cntnap5c	T	A	17: 58,199,097 (GRCm39)		probably benign	Het
Dclre1c	A	G	2: 3,439,089 (GRCm39)	E83G	probably damaging	Het
Dok4	T	C	8: 95,592,256 (GRCm39)	N244S	probably damaging	Het
Dync2h1	T	C	9: 7,142,864 (GRCm39)	T1151A	probably benign	Het
Fer	G	A	17: 64,298,712 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,584 (GRCm39)		probably benign	Het
Ints5	T	C	19: 8,875,014 (GRCm39)	L991P	probably damaging	Het
Itga5	T	C	15: 103,259,261 (GRCm39)	D722G	possibly damaging	Het
Jup	A	G	11: 100,267,565 (GRCm39)	I586T	probably benign	Het
Lig1	G	A	7: 13,030,273 (GRCm39)	G417R	probably damaging	Het
Lig4	A	G	8: 10,022,103 (GRCm39)	I559T	possibly damaging	Het
Mcm3ap	A	G	10: 76,343,300 (GRCm39)	I1731V	probably benign	Het
Mfsd13a	T	G	19: 46,356,192 (GRCm39)	V99G	possibly damaging	Het
Nelfcd	A	G	2: 174,264,391 (GRCm39)	H153R	probably damaging	Het
Nlrp1b	A	G	11: 71,060,637 (GRCm39)	Y724H	possibly damaging	Het
Npas3	C	A	12: 53,548,048 (GRCm39)	N101K	probably damaging	Het
Nuf2	A	G	1: 169,334,807 (GRCm39)		probably benign	Het
Or10am5	T	C	7: 6,517,682 (GRCm39)	T249A	probably damaging	Het
Or11g7	C	T	14: 50,691,442 (GRCm39)	T311I	probably damaging	Het
Or5c1	A	T	2: 37,222,013 (GRCm39)	M85L	probably benign	Het
Polr3c	A	G	3: 96,621,628 (GRCm39)	Y423H	probably damaging	Het
Pomgnt2	A	G	9: 121,811,956 (GRCm39)	L275P	probably damaging	Het
Ptprj	T	G	2: 90,298,808 (GRCm39)		probably null	Het
Rad51b	C	T	12: 79,371,856 (GRCm39)	Q190*	probably null	Het
Rpl10a	T	C	17: 28,547,967 (GRCm39)	I36T	probably damaging	Het
Tagap1	T	C	17: 7,223,781 (GRCm39)	H305R	probably damaging	Het
Tmem154	A	G	3: 84,591,508 (GRCm39)		probably benign	Het
Vil1	A	G	1: 74,457,682 (GRCm39)	E105G	probably benign	Het
Wdfy4	C	A	14: 32,798,241 (GRCm39)	C2055F	probably damaging	Het
Zfat	T	C	15: 68,052,963 (GRCm39)	N277S	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
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
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

2015-12-18