Mutagenetix > Incidental Mutation

Incidental Mutation 'R8205:Pxdn'

635879

Institutional Source

Beutler Lab

Gene Symbol

Pxdn

Ensembl Gene

ENSMUSG00000020674

Gene Name

peroxidasin

Synonyms

2310075M15Rik, VPO1

MMRRC Submission

067628-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.601) question?

Stock #

R8205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29987607-30067657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30056566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1259 (L1259R)

Ref Sequence

ENSEMBL: ENSMUSP00000113703 (fasta)

Gene Model

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

AlphaFold

Q3UQ28

Predicted Effect

probably damaging
Transcript: ENSMUST00000122328
AA Change: L1259R

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

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: L1259R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,278,080 (GRCm39)	V157A	probably benign	Het
Adamtsl1	A	G	4: 86,117,650 (GRCm39)	*204W	probably null	Het
Add2	A	G	6: 86,063,899 (GRCm39)	E66G	probably damaging	Het
Adgrd1	A	G	5: 129,192,175 (GRCm39)	T114A	possibly damaging	Het
Aldh7a1	A	T	18: 56,678,070 (GRCm39)	I247N	probably damaging	Het
Ankrd13d	A	T	19: 4,331,009 (GRCm39)	M166K	probably damaging	Het
Brd7	A	G	8: 89,070,243 (GRCm39)	F388L	probably damaging	Het
Cap2	G	A	13: 46,768,739 (GRCm39)	V182M	probably damaging	Het
Col22a1	A	T	15: 71,732,918 (GRCm39)	V1100E	unknown	Het
Cracdl	T	C	1: 37,664,047 (GRCm39)	D617G	probably benign	Het
Crisp2	T	C	17: 41,095,969 (GRCm39)	E63G	possibly damaging	Het
Dst	T	G	1: 34,253,685 (GRCm39)	W2304G	probably damaging	Het
Eif2a	A	C	3: 58,456,156 (GRCm39)	N385T	probably damaging	Het
Eif4ebp2	A	T	10: 61,270,704 (GRCm39)	H108Q	probably benign	Het
Fgd3	T	C	13: 49,449,823 (GRCm39)	D142G	probably benign	Het
Gbp8	T	A	5: 105,198,846 (GRCm39)	H23L	probably benign	Het
Glt1d1	A	G	5: 127,768,080 (GRCm39)	E229G	probably benign	Het
Gpatch8	T	C	11: 102,371,213 (GRCm39)	D775G	unknown	Het
Heatr1	T	C	13: 12,430,928 (GRCm39)	Y1008H	probably benign	Het
Heatr5a	T	A	12: 52,005,792 (GRCm39)	N61I	probably benign	Het
Hydin	A	T	8: 111,319,270 (GRCm39)	H4391L	possibly damaging	Het
Ifi206	T	C	1: 173,309,450 (GRCm39)	E182G		Het
Mbtps1	A	G	8: 120,247,077 (GRCm39)	S789P	probably damaging	Het
Mex3a	T	C	3: 88,444,159 (GRCm39)	S412P	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,542 (GRCm39)	V318I	possibly damaging	Het
Mup2	T	A	4: 60,137,659 (GRCm39)	D128V	probably benign	Het
Ndufaf7	G	A	17: 79,254,461 (GRCm39)	C418Y	probably benign	Het
Nlrp4a	A	G	7: 26,150,219 (GRCm39)	S609G	probably benign	Het
Obscn	T	A	11: 58,898,697 (GRCm39)	Y6554F	unknown	Het
Odf2l	A	G	3: 144,856,495 (GRCm39)		probably benign	Het
Or14j2	A	T	17: 37,885,892 (GRCm39)	C141S	probably damaging	Het
Or1o11	T	C	17: 37,757,180 (GRCm39)	V245A	probably damaging	Het
Or4c104	A	T	2: 88,587,016 (GRCm39)	M1K	probably null	Het
Plod2	G	T	9: 92,424,371 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,541,418 (GRCm39)	V30A	probably benign	Het
Rnf6	A	G	5: 146,147,714 (GRCm39)	S435P	probably damaging	Het
Sacm1l	G	A	9: 123,415,724 (GRCm39)		probably null	Het
Scgb2b26	T	C	7: 33,643,833 (GRCm39)	T36A	probably benign	Het
Slc1a7	A	G	4: 107,865,508 (GRCm39)	N332S	probably benign	Het
Slfn5	T	C	11: 82,851,544 (GRCm39)	F614L	probably benign	Het
Smad7	C	A	18: 75,527,119 (GRCm39)	Q322K	probably damaging	Het
Smap1	T	C	1: 23,888,507 (GRCm39)	T253A	probably benign	Het
Socs5	G	T	17: 87,441,138 (GRCm39)	R26L	probably benign	Het
Steap4	A	T	5: 8,026,795 (GRCm39)	I253F	possibly damaging	Het
Tacc1	G	A	8: 25,672,803 (GRCm39)	H142Y	probably benign	Het
Tent5c	A	G	3: 100,380,138 (GRCm39)	F206S	probably benign	Het
Tmem117	G	A	15: 94,992,679 (GRCm39)	M446I	probably benign	Het
Trav7-6	G	A	14: 53,954,550 (GRCm39)	D47N	probably benign	Het
Trim2	C	A	3: 84,100,646 (GRCm39)	A162S	probably damaging	Het
Ttc28	A	G	5: 111,373,596 (GRCm39)	I1011V	possibly damaging	Het
Vmn2r98	T	C	17: 19,301,425 (GRCm39)	V809A	probably damaging	Het
Wfikkn1	T	A	17: 26,097,071 (GRCm39)	T418S	probably benign	Het
Zbtb41	T	A	1: 139,356,919 (GRCm39)	D391E	possibly damaging	Het
Zfp109	G	A	7: 23,928,635 (GRCm39)	S266F	probably damaging	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
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
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'- AAGAGTAGCCATCTTCTTGCTG -3'
(R):5'- GTACCTTCACAACAGTCCTGC -3'

Sequencing Primer
(F):5'- TGGGAATTTGAACAATGGTGGC -3'
(R):5'- TGCCACACTCGCAGGTC -3'

Posted On

2020-07-13