Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01341:Pxdn'

74838

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 #

IGL01341

Quality Score

Status

Chromosome

Chromosomal Location

29987607-30067657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30052486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 888 (S888P)

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: S888P

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

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: S888P

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: S708P

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,067 (GRCm39)	H3450Q	probably benign	Het
Arcn1	A	G	9: 44,668,489 (GRCm39)	I249T	possibly damaging	Het
Arhgef5	G	A	6: 43,260,925 (GRCm39)	R1450H	probably damaging	Het
Cdh26	A	T	2: 178,099,240 (GRCm39)	D113V	probably damaging	Het
Cnot4	A	G	6: 35,047,189 (GRCm39)	V141A	probably damaging	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Ctsll3	C	T	13: 60,946,813 (GRCm39)	D269N	probably benign	Het
Dnttip2	T	C	3: 122,070,261 (GRCm39)	I492T	probably damaging	Het
Gimap8	A	G	6: 48,635,701 (GRCm39)	S489G	probably damaging	Het
Glra2	T	C	X: 164,107,562 (GRCm39)	D46G	probably damaging	Het
Gm7094	A	G	1: 21,343,107 (GRCm39)		noncoding transcript	Het
Gmps	T	C	3: 63,922,861 (GRCm39)	I608T	probably damaging	Het
Gzma	A	G	13: 113,230,418 (GRCm39)		probably benign	Het
H2-Q4	T	A	17: 35,601,978 (GRCm39)	V280E	probably damaging	Het
Jak1	C	T	4: 101,032,290 (GRCm39)	G439S	probably damaging	Het
Kars1	T	C	8: 112,721,606 (GRCm39)	I556V	probably benign	Het
Kifc2	T	C	15: 76,547,098 (GRCm39)		probably null	Het
Kit	T	C	5: 75,767,734 (GRCm39)	I39T	probably damaging	Het
Map3k6	G	T	4: 132,975,371 (GRCm39)	R702L	possibly damaging	Het
Marveld3	T	A	8: 110,675,049 (GRCm39)	T256S	possibly damaging	Het
Nkd1	G	A	8: 89,318,180 (GRCm39)		probably benign	Het
Or5aq6	T	A	2: 86,923,643 (GRCm39)	I33L	probably benign	Het
Or6c212	G	A	10: 129,558,747 (GRCm39)	T222I	possibly damaging	Het
Pax2	A	G	19: 44,779,127 (GRCm39)	S167G	probably damaging	Het
Pdlim3	T	A	8: 46,368,277 (GRCm39)	D258E	probably benign	Het
Ppip5k1	A	T	2: 121,173,691 (GRCm39)	C393*	probably null	Het
Relb	T	C	7: 19,350,298 (GRCm39)	I218V	probably benign	Het
Reln	T	A	5: 22,174,077 (GRCm39)	I2009F	probably damaging	Het
Sec23b	T	C	2: 144,427,653 (GRCm39)	S627P	probably benign	Het
Slc2a8	T	A	2: 32,866,003 (GRCm39)	Q39L	probably damaging	Het
Tmem143	T	C	7: 45,565,558 (GRCm39)	Y340H	probably damaging	Het
Ttn	A	G	2: 76,560,663 (GRCm39)	V29246A	probably damaging	Het
Wdr81	T	C	11: 75,336,427 (GRCm39)	D1654G	probably damaging	Het
Zbtb11	T	G	16: 55,811,294 (GRCm39)	L484R	possibly damaging	Het
Zcchc8	A	G	5: 123,842,632 (GRCm39)	V367A	probably benign	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
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