Mutagenetix > Incidental Mutations

Incidental Mutation 'R0426:Pxdn'

38671

Institutional Source

Beutler Lab

Gene Symbol

Pxdn

Ensembl Gene

ENSMUSG00000020674

Gene Name

peroxidasin

Synonyms

VPO1, 2310075M15Rik

MMRRC Submission

038628-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R0426 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

29937608-30017658 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29987066 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 281 (N281S)

Ref Sequence

ENSEMBL: ENSMUSP00000113703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118321] [ENSMUST00000122328] [ENSMUST00000220271]

Predicted Effect

probably benign
Transcript: ENSMUST00000118321
AA Change: N257S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113477
Gene: ENSMUSG00000020674
AA Change: N257S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122328
AA Change: N281S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: N281S

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: ENSMUST00000155318

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220271
AA Change: N101S

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1593

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	C	T	5: 107,510,373	T1603I	probably damaging	Het
Abca8b	G	T	11: 109,955,027		probably benign	Het
Acadl	A	T	1: 66,841,646	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,622,746	D222G	probably benign	Het
Anapc15	A	G	7: 101,898,033	T39A	probably benign	Het
Ano3	A	T	2: 110,661,174	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,970,990		probably null	Het
Atad5	T	A	11: 80,112,832	I1091N	probably benign	Het
Atf1	A	T	15: 100,232,827	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,784,734	M252T	probably benign	Het
Cd55	C	T	1: 130,448,372	R347H	probably benign	Het
Cdc27	A	C	11: 104,513,027		probably null	Het
Cdh9	G	A	15: 16,823,454		probably null	Het
Cdk11b	T	C	4: 155,642,512		probably benign	Het
Cep70	A	G	9: 99,297,684	D567G	probably benign	Het
Cep78	A	T	19: 15,970,970	Y382*	probably null	Het
Col9a2	T	C	4: 121,044,660		probably benign	Het
Cyp2d12	G	A	15: 82,558,963	D409N	probably benign	Het
Ddx39	A	G	8: 83,721,769	T217A	probably benign	Het
Dennd1b	T	A	1: 139,170,196	D733E	probably benign	Het
Dicer1	A	G	12: 104,702,542	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,943,572	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,852,436		probably benign	Het
Dysf	T	C	6: 84,149,757	L1332P	probably damaging	Het
F5	A	G	1: 164,182,840	D380G	probably damaging	Het
Fam160a2	A	C	7: 105,389,473	C186W	probably damaging	Het
Fam171a1	T	C	2: 3,225,396	V522A	probably benign	Het
Galr2	C	A	11: 116,281,691	A69D	probably damaging	Het
Grk2	T	C	19: 4,290,600		probably null	Het
Gtf3c1	A	T	7: 125,663,016	Y1119*	probably null	Het
Hgd	A	T	16: 37,588,685		probably benign	Het
Ildr2	G	T	1: 166,308,899	V436L	probably benign	Het
Intu	G	A	3: 40,675,305	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,883,096	P268T	probably benign	Het
Jarid2	T	C	13: 44,840,882		probably null	Het
Jup	A	T	11: 100,372,401	M716K	probably benign	Het
Kank1	G	A	19: 25,411,473	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,064,244		probably benign	Het
Kdm3a	C	T	6: 71,600,755	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437		probably benign	Het
Kifap3	T	A	1: 163,865,552		probably benign	Het
Macf1	T	A	4: 123,483,660	K1400*	probably null	Het
Majin	A	G	19: 6,212,117		probably benign	Het
Mb21d1	G	A	9: 78,435,738		probably benign	Het
Mctp1	A	G	13: 77,020,821	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,464,127	I286F	possibly damaging	Het
Neil3	T	G	8: 53,609,396		probably benign	Het
Nox3	G	T	17: 3,695,563	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,883,812	K219E	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr213	A	T	6: 116,540,485	N11Y	probably damaging	Het
Olfr389	T	A	11: 73,776,437	M297L	probably benign	Het
Olfr524	A	C	7: 140,202,116	F218C	possibly damaging	Het
Olfr548-ps1	T	A	7: 102,542,686	I250N	probably damaging	Het
Olfr954	T	C	9: 39,461,593	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,379,795	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,342,804	E331V	probably damaging	Het
Pcid2	A	C	8: 13,081,262		probably null	Het
Pcsk9	T	C	4: 106,450,077	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801	E203G	probably damaging	Het
Phlpp2	A	G	8: 109,928,463	Y630C	probably benign	Het
Pidd1	C	T	7: 141,439,133	A812T	probably damaging	Het
Plau	G	A	14: 20,842,314	R389H	probably benign	Het
Plekhg6	G	A	6: 125,364,629		probably null	Het
Ppox	T	C	1: 171,277,749	Y321C	probably damaging	Het
Pycrl	A	T	15: 75,918,388	M138K	probably benign	Het
Radil	T	C	5: 142,497,873	Y526C	probably damaging	Het
Ranbp3	C	A	17: 56,707,169	D233E	probably benign	Het
Rhpn1	A	G	15: 75,711,872	Q402R	possibly damaging	Het
Sec23b	T	A	2: 144,568,612		probably benign	Het
Sel1l2	A	T	2: 140,240,912	L602*	probably null	Het
Sema5b	G	A	16: 35,646,355	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,456,259		probably benign	Het
Synj1	G	T	16: 90,967,354	A65E	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tecrl	T	C	5: 83,354,763		probably benign	Het
Tenm4	G	T	7: 96,777,851	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,182	L259F	probably damaging	Het
Tmem247	G	A	17: 86,918,503	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,852,821	A218E	probably damaging	Het
Tppp	T	A	13: 74,021,311	F57I	probably damaging	Het
Trim36	A	G	18: 46,172,525	W452R	probably damaging	Het
Vars2	A	T	17: 35,664,584	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Zfp516	G	T	18: 82,955,772	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348	L429I	possibly damaging	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
IGL02361: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
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
Z1177:Pxdn	UTSW	12	29990852	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTGCTAAGTCACAGTTGCTGAG -3'
(R):5'- TGCATGACCAGTCTCTCCAGGTTC -3'

Sequencing Primer
(F):5'- TTGCTGAGGCGGACCTATC -3'
(R):5'- AGTAACCCAGAGCTTCTGTG -3'

Posted On

2013-05-23