Mutagenetix > Incidental Mutation

Incidental Mutation 'R6865:Pxdn'

535876

Institutional Source

Beutler Lab

Gene Symbol

Pxdn

Ensembl Gene

ENSMUSG00000020674

Gene Name

peroxidasin

Synonyms

2310075M15Rik, VPO1

MMRRC Submission

045027-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.601) question?

Stock #

R6865 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29987607-30067657 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 30064582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151320 (fasta)

Gene Model

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

AlphaFold

Q3UQ28

Predicted Effect

probably null
Transcript: ENSMUST00000122328

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674

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

probably null
Transcript: ENSMUST00000122328

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674

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

probably null
Transcript: ENSMUST00000220271

Predicted Effect

probably null
Transcript: ENSMUST00000220271

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	A	13: 4,320,212 (GRCm39)	M293L	possibly damaging	Het
Ankrd11	T	C	8: 123,621,683 (GRCm39)	D723G	probably benign	Het
Ankrd26	T	C	6: 118,500,442 (GRCm39)	R1010G	possibly damaging	Het
Apob	G	A	12: 8,058,847 (GRCm39)	R2410H	probably benign	Het
Auh	T	C	13: 52,992,165 (GRCm39)	D275G	probably damaging	Het
Card10	G	T	15: 78,686,822 (GRCm39)	D47E	possibly damaging	Het
Ccdc141	C	T	2: 76,859,579 (GRCm39)		probably null	Het
Cfap206	T	C	4: 34,714,448 (GRCm39)	Y416C	possibly damaging	Het
Chuk	A	T	19: 44,075,354 (GRCm39)	Y500*	probably null	Het
Cop1	T	A	1: 159,136,524 (GRCm39)	D536E	probably damaging	Het
Crh	G	C	3: 19,748,304 (GRCm39)	P113A	possibly damaging	Het
Ddx54	T	G	5: 120,759,892 (GRCm39)		probably null	Het
Efcab7	T	C	4: 99,769,793 (GRCm39)	S127P	probably damaging	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Fga	T	A	3: 82,938,848 (GRCm39)	C408S	probably damaging	Het
Flot2	T	C	11: 77,940,318 (GRCm39)	S22P	probably benign	Het
Fndc1	T	A	17: 7,991,672 (GRCm39)	T675S	unknown	Het
Foxc1	A	G	13: 31,992,836 (GRCm39)	D549G	unknown	Het
Gldc	T	C	19: 30,111,162 (GRCm39)	N538S	possibly damaging	Het
Grk4	T	G	5: 34,888,894 (GRCm39)	V346G	probably damaging	Het
Gucy2c	T	C	6: 136,747,127 (GRCm39)	R111G	probably benign	Het
Heatr6	C	T	11: 83,659,966 (GRCm39)	H504Y	probably damaging	Het
Lrp5	A	T	19: 3,670,013 (GRCm39)		probably null	Het
Msrb1	T	C	17: 24,955,685 (GRCm39)	S2P	possibly damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo3a	A	G	2: 22,464,313 (GRCm39)	I185V	probably benign	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Nek6	A	G	2: 38,459,678 (GRCm39)	I174V	probably benign	Het
Nmt2	T	C	2: 3,315,766 (GRCm39)	V252A	probably damaging	Het
Nudt9	G	T	5: 104,207,545 (GRCm39)	R179M	probably damaging	Het
Nwd1	T	C	8: 73,383,690 (GRCm39)	V29A	possibly damaging	Het
Olah	T	C	2: 3,343,964 (GRCm39)	D216G	possibly damaging	Het
Or13c7b	T	C	4: 43,821,346 (GRCm39)	N5S	probably benign	Het
Or52n2	T	C	7: 104,542,719 (GRCm39)	I39V	probably benign	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pkd1	T	C	17: 24,795,461 (GRCm39)	V2318A	probably benign	Het
Pknox1	T	A	17: 31,807,534 (GRCm39)	M51K	probably damaging	Het
Ppp1r12a	C	T	10: 108,098,242 (GRCm39)	R321*	probably null	Het
Rab44	A	T	17: 29,358,201 (GRCm39)	I130F	probably benign	Het
Rnf130	T	C	11: 49,962,091 (GRCm39)	I179T	probably damaging	Het
Slc22a28	A	T	19: 8,041,856 (GRCm39)	C450*	probably null	Het
Slco1c1	A	T	6: 141,485,778 (GRCm39)	Y136F	probably damaging	Het
Synj2	C	T	17: 6,067,844 (GRCm39)	Q106*	probably null	Het
Uckl1	T	C	2: 181,216,286 (GRCm39)	N138S	probably damaging	Het
Usp19	G	T	9: 108,376,018 (GRCm39)	E203*	probably null	Het
Vdr	A	G	15: 97,755,386 (GRCm39)	I379T	probably damaging	Het
Zfp503	C	A	14: 22,036,101 (GRCm39)	G272C	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly damaging	Het
Zzz3	T	A	3: 152,133,690 (GRCm39)	D249E	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
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
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'- TCCACACGGCAAGTAGACTC -3'
(R):5'- GTATGTTCCCCGTACACCATTAG -3'

Sequencing Primer
(F):5'- AGTAGACTCCCAGCACCTGTTG -3'
(R):5'- TACACCATTAGCTGCGAAGGTG -3'

Posted On

2018-10-18