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

VPO1, 2310075M15Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

IGL02361

Quality Score

Status

Chromosome

Chromosomal Location

29937608-30017658 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29999189 bp (GRCm38)

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: 55,345,513	L164F	possibly damaging	Het
Bfsp1	T	C	2: 143,831,987	E261G	probably damaging	Het
Brinp2	A	G	1: 158,247,178	C458R	probably damaging	Het
Cacng3	T	G	7: 122,671,946	M58R	possibly damaging	Het
Cfap43	A	T	19: 47,897,413	C254*	probably null	Het
Cnga1	T	C	5: 72,616,718		probably null	Het
Dis3	A	T	14: 99,079,712	Y765*	probably null	Het
Dpep1	T	A	8: 123,200,218	S260R	probably benign	Het
Elmod1	A	G	9: 53,931,558	L106P	probably damaging	Het
Fut10	A	G	8: 31,201,370	Y81C	probably damaging	Het
Fzd10	T	A	5: 128,601,868	D217E	possibly damaging	Het
Gap43	T	C	16: 42,340,508		probably benign	Het
Gigyf1	T	C	5: 137,519,727		probably benign	Het
Gm1840	T	C	8: 5,640,896		noncoding transcript	Het
Gpc5	C	T	14: 115,133,287	R175*	probably null	Het
Kcna1	C	A	6: 126,642,906	Q150H	probably damaging	Het
Lama5	A	T	2: 180,193,884	C1225*	probably null	Het
Lrrc25	A	T	8: 70,617,827	D86V	probably benign	Het
Madd	A	T	2: 91,162,198	V1043E	probably benign	Het
Mov10	A	T	3: 104,804,121		probably benign	Het
Mzb1	T	A	18: 35,649,197	H46L	possibly damaging	Het
Nek10	A	T	14: 14,843,856	Q193L	probably damaging	Het
Nos3	A	T	5: 24,367,623	I187F	probably damaging	Het
Olfr1231	T	A	2: 89,303,182	M137L	probably benign	Het
Olfr473	T	A	7: 107,934,277	Y252*	probably null	Het
Olfr822	A	G	10: 130,075,274	Y288C	probably damaging	Het
Pgap1	T	C	1: 54,512,816	T486A	probably benign	Het
Prdm9	C	T	17: 15,562,847	V58M	probably damaging	Het
Prkd2	A	G	7: 16,847,658	Y146C	probably damaging	Het
Psmd9	G	T	5: 123,248,316	R175I	probably damaging	Het
Rgs6	A	T	12: 82,618,619		probably benign	Het
Rrm2	G	T	12: 24,711,439		probably benign	Het
Shank3	T	C	15: 89,504,333	V376A	probably damaging	Het
Slc5a10	A	G	11: 61,719,840		probably null	Het
Slfn3	A	T	11: 83,213,242	Q313L	possibly damaging	Het
Sptbn1	A	T	11: 30,110,783	F2062L	probably damaging	Het
Tbc1d10a	T	C	11: 4,215,047	V500A	probably benign	Het
Tcea1	T	C	1: 4,896,347		probably benign	Het
Thsd7a	T	C	6: 12,348,193		probably benign	Het
Tm9sf4	C	T	2: 153,187,650	T173M	probably benign	Het
Tmtc2	T	C	10: 105,271,526	T709A	probably benign	Het
Zfp385b	T	C	2: 77,450,303	E97G	probably damaging	Het
Zim1	A	T	7: 6,682,874		probably null	Het

Other mutations in Pxdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Pxdn	APN	12	29987099	missense	probably damaging	1.00
IGL01152:Pxdn	APN	12	30001937	missense	probably damaging	0.99
IGL01286:Pxdn	APN	12	29982754	missense	probably benign	0.04
IGL01323:Pxdn	APN	12	29987137	missense	probably benign	0.00
IGL01338:Pxdn	APN	12	30002797	missense	probably damaging	1.00
IGL01341:Pxdn	APN	12	30002487	missense	probably damaging	1.00
IGL01401:Pxdn	APN	12	30001984	missense	probably damaging	1.00
IGL01580:Pxdn	APN	12	29984493	missense	probably benign	0.18
IGL01650:Pxdn	APN	12	30002401	missense	probably benign	0.01
IGL01679:Pxdn	APN	12	29999902	missense	probably damaging	0.97
IGL01866:Pxdn	APN	12	29984571	missense	probably benign	0.02
IGL02354:Pxdn	APN	12	29999189	missense	probably damaging	1.00
IGL02427:Pxdn	APN	12	29984532	missense	probably damaging	1.00
IGL02955:Pxdn	APN	12	30003157	missense	probably damaging	1.00
IGL03079:Pxdn	APN	12	30002998	missense	probably damaging	0.97
IGL03111:Pxdn	APN	12	29982756	missense	probably damaging	0.99
IGL02988:Pxdn	UTSW	12	30003114	nonsense	probably null
PIT4280001:Pxdn	UTSW	12	29995328	missense	probably damaging	0.99
PIT4469001:Pxdn	UTSW	12	30005829	missense	probably benign	0.00
R0070:Pxdn	UTSW	12	29982727	missense	probably damaging	0.99
R0070:Pxdn	UTSW	12	29982727	missense	probably damaging	0.99
R0086:Pxdn	UTSW	12	30002419	missense	possibly damaging	0.95
R0140:Pxdn	UTSW	12	29982754	missense	probably benign	0.04
R0201:Pxdn	UTSW	12	30002431	missense	possibly damaging	0.79
R0282:Pxdn	UTSW	12	29984440	nonsense	probably null
R0310:Pxdn	UTSW	12	30015529	missense	probably damaging	1.00
R0426:Pxdn	UTSW	12	29987066	missense	possibly damaging	0.89
R0468:Pxdn	UTSW	12	29994486	missense	probably damaging	0.99
R0825:Pxdn	UTSW	12	29984996	splice site	probably benign
R0885:Pxdn	UTSW	12	30003402	missense	probably benign	0.30
R1420:Pxdn	UTSW	12	30002068	missense	probably damaging	1.00
R1588:Pxdn	UTSW	12	30002559	missense	probably damaging	1.00
R2269:Pxdn	UTSW	12	30005775	missense	probably damaging	0.97
R2280:Pxdn	UTSW	12	29984906	missense	probably damaging	0.98
R2504:Pxdn	UTSW	12	30003406	missense	probably damaging	1.00
R2679:Pxdn	UTSW	12	29975569	splice site	probably benign
R3116:Pxdn	UTSW	12	30002307	missense	possibly damaging	0.89
R3607:Pxdn	UTSW	12	29990918	missense	probably benign	0.04
R4033:Pxdn	UTSW	12	30003225	missense	probably benign	0.19
R4576:Pxdn	UTSW	12	30011923	missense	probably benign
R4659:Pxdn	UTSW	12	29994553	missense	probably benign	0.01
R4681:Pxdn	UTSW	12	30012326	missense	probably benign	0.45
R4968:Pxdn	UTSW	12	30000012	missense	probably benign	0.25
R5032:Pxdn	UTSW	12	30003141	missense	probably benign	0.08
R5232:Pxdn	UTSW	12	29990988	missense	probably benign	0.08
R5366:Pxdn	UTSW	12	30002900	missense	probably damaging	1.00
R5504:Pxdn	UTSW	12	30002801	missense	probably damaging	1.00
R5586:Pxdn	UTSW	12	30003142	missense	probably damaging	0.99
R5739:Pxdn	UTSW	12	29982334	missense	probably benign	0.03
R5877:Pxdn	UTSW	12	30003046	missense	probably damaging	1.00
R6167:Pxdn	UTSW	12	29974001	missense	probably damaging	1.00
R6191:Pxdn	UTSW	12	29982717	missense	possibly damaging	0.94
R6200:Pxdn	UTSW	12	30003112	missense	probably damaging	1.00
R6609:Pxdn	UTSW	12	30002941	missense	probably benign	0.00
R6628:Pxdn	UTSW	12	29999918	missense	probably damaging	1.00
R6865:Pxdn	UTSW	12	30014583	splice site	probably null
R6921:Pxdn	UTSW	12	30015505	missense	probably damaging	0.96
R6995:Pxdn	UTSW	12	29995371	missense	possibly damaging	0.95
R7211:Pxdn	UTSW	12	29984904	missense	possibly damaging	0.77
R7220:Pxdn	UTSW	12	29994480	missense	probably benign	0.02
R7347:Pxdn	UTSW	12	30012261	missense	probably benign	0.01
R7402:Pxdn	UTSW	12	30002439	missense	probably damaging	1.00
R7408:Pxdn	UTSW	12	29990945	missense	probably benign	0.29
R7413:Pxdn	UTSW	12	30002928	missense	probably benign	0.00
R7447:Pxdn	UTSW	12	29984927	missense	probably damaging	1.00
R7572:Pxdn	UTSW	12	30006705	missense	probably damaging	1.00
R7708:Pxdn	UTSW	12	30006602	missense	probably damaging	0.99
R7815:Pxdn	UTSW	12	30005825	missense	probably damaging	0.96
R7972:Pxdn	UTSW	12	30006602	missense	probably damaging	0.99
R8097:Pxdn	UTSW	12	30006602	missense	probably damaging	0.99
R8098:Pxdn	UTSW	12	30006602	missense	probably damaging	0.99
R8205:Pxdn	UTSW	12	30006567	missense	probably damaging	1.00
R8262:Pxdn	UTSW	12	29999196	nonsense	probably null
R8335:Pxdn	UTSW	12	30002097	missense	probably damaging	0.99
R8356:Pxdn	UTSW	12	30011890	missense	probably damaging	0.99
R8437:Pxdn	UTSW	12	30002044	missense	probably damaging	1.00
R8456:Pxdn	UTSW	12	30011890	missense	probably damaging	0.99
R8709:Pxdn	UTSW	12	30006602	missense	probably damaging	0.99
R8772:Pxdn	UTSW	12	30015464	missense	probably damaging	1.00
R8903:Pxdn	UTSW	12	29990993	missense	probably benign
R9310:Pxdn	UTSW	12	30002052	missense	probably damaging	1.00
R9487:Pxdn	UTSW	12	29994553	missense	possibly damaging	0.90
Z1177:Pxdn	UTSW	12	29990852	missense	probably damaging	1.00

Posted On

2015-04-16