Mutagenetix > Incidental Mutation

Incidental Mutation 'R0885:Pxdn'

81196

Institutional Source

Beutler Lab

Gene Symbol

Pxdn

Ensembl Gene

ENSMUSG00000020674

Gene Name

peroxidasin

Synonyms

2310075M15Rik, VPO1

MMRRC Submission

039052-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.601) question?

Stock #

R0885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29987607-30067657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30053401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1193 (V1193M)

Ref Sequence

ENSEMBL: ENSMUSP00000113703 (fasta)

Gene Model

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

AlphaFold

Q3UQ28

Predicted Effect

probably benign
Transcript: ENSMUST00000122328
AA Change: V1193M

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: V1193M

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 benign
Transcript: ENSMUST00000220271
AA Change: V1013M

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 92.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	T	A	7: 29,980,094 (GRCm39)	Y46*	probably null	Het
Adam18	T	C	8: 25,141,802 (GRCm39)	K256E	probably damaging	Het
Adam20	T	A	8: 41,249,595 (GRCm39)	H568Q	probably benign	Het
Ambp	A	G	4: 63,069,705 (GRCm39)	L107P	probably damaging	Het
Art1	T	C	7: 101,756,541 (GRCm39)	F244S	probably damaging	Het
Asxl2	C	A	12: 3,551,458 (GRCm39)	L1067I	probably damaging	Het
Atm	T	C	9: 53,371,123 (GRCm39)	T2242A	probably benign	Het
Atp2c1	C	T	9: 105,298,772 (GRCm39)		probably null	Het
Bptf	A	G	11: 106,934,617 (GRCm39)	Y2819H	probably damaging	Het
Caskin1	G	A	17: 24,724,668 (GRCm39)	R1152H	probably damaging	Het
Chd7	T	A	4: 8,866,432 (GRCm39)	L868Q	probably damaging	Het
Cyp2d40	T	C	15: 82,645,116 (GRCm39)	E178G	unknown	Het
Dclk1	G	T	3: 55,394,728 (GRCm39)	R103S	probably damaging	Het
Des	A	G	1: 75,337,374 (GRCm39)	T105A	probably damaging	Het
Ebf3	T	C	7: 136,827,613 (GRCm39)	T262A	probably benign	Het
Epha4	A	G	1: 77,359,576 (GRCm39)	V759A	probably damaging	Het
Fryl	A	T	5: 73,246,539 (GRCm39)	F1078I	probably damaging	Het
Il20	T	C	1: 130,838,518 (GRCm39)	I60V	probably benign	Het
Kif3c	A	T	12: 3,415,981 (GRCm39)	M1L	probably benign	Het
Lhfpl5	A	T	17: 28,795,011 (GRCm39)	I13F	probably damaging	Het
Lin28b	C	T	10: 45,257,324 (GRCm39)	G218E	probably damaging	Het
Lrp2	A	T	2: 69,312,697 (GRCm39)	N2530K	possibly damaging	Het
Matn2	T	A	15: 34,316,751 (GRCm39)	F31Y	possibly damaging	Het
Mcm6	T	C	1: 128,276,670 (GRCm39)	N307D	probably benign	Het
Mmp16	A	T	4: 18,054,491 (GRCm39)	R332S	probably benign	Het
Mpdz	T	A	4: 81,287,829 (GRCm39)	T477S	probably benign	Het
Mrgprb3	C	A	7: 48,292,844 (GRCm39)	G236W	probably damaging	Het
Mrpl47	T	C	3: 32,784,335 (GRCm39)	D145G	probably damaging	Het
Myo6	T	C	9: 80,149,503 (GRCm39)	S150P	probably damaging	Het
Naca	C	A	10: 127,876,048 (GRCm39)	S360*	probably null	Het
Or2ak6	C	T	11: 58,592,913 (GRCm39)	P129S	possibly damaging	Het
Phip	C	A	9: 82,757,448 (GRCm39)	A1575S	probably benign	Het
Pip4p1	T	C	14: 51,167,763 (GRCm39)	E54G	probably damaging	Het
Plxna2	T	C	1: 194,326,864 (GRCm39)	M266T	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prag1	T	C	8: 36,570,421 (GRCm39)	F335L	probably benign	Het
Prmt2	A	G	10: 76,058,399 (GRCm39)	Y137H	probably damaging	Het
Psme3ip1	C	A	8: 95,302,407 (GRCm39)	C208F	probably damaging	Het
Ptgds	T	C	2: 25,357,357 (GRCm39)	D184G	possibly damaging	Het
Ptpn5	T	C	7: 46,738,359 (GRCm39)	Y241C	probably benign	Het
Raet1e	T	A	10: 22,057,986 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,001,934 (GRCm39)	D282G	probably benign	Het
Sis	G	A	3: 72,819,282 (GRCm39)	R1425*	probably null	Het
Slco2a1	G	T	9: 102,959,582 (GRCm39)	M559I	probably damaging	Het
Spata4	C	T	8: 55,053,879 (GRCm39)	A15V	probably damaging	Het
Spop	T	C	11: 95,361,453 (GRCm39)	S14P	probably benign	Het
Tcof1	A	T	18: 60,968,922 (GRCm39)	D230E	possibly damaging	Het
Tubgcp5	T	A	7: 55,455,803 (GRCm39)	L277*	probably null	Het
Ubxn10	A	T	4: 138,447,881 (GRCm39)	V265E	probably damaging	Het
Ugt2b36	T	A	5: 87,239,848 (GRCm39)	Y179F	probably benign	Het
Wdr37	A	C	13: 8,885,288 (GRCm39)		probably null	Het
Zfp593	A	G	4: 133,972,224 (GRCm39)	V94A	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCGCATTCCCTCTCAATTGCTGAAC -3'
(R):5'- TGAGGCCCATTTGCCATGTGAC -3'

Sequencing Primer
(F):5'- TCTCAATTGCTGAACACAGAGC -3'
(R):5'- CTGTCCCAGCTAGGAAAGTATAACTG -3'

Posted On

2013-11-07