Mutagenetix > Incidental Mutation

Incidental Mutation 'R8437:Pxdn'

654058

Institutional Source

Beutler Lab

Gene Symbol

Pxdn

Ensembl Gene

ENSMUSG00000020674

Gene Name

peroxidasin

Synonyms

2310075M15Rik, VPO1

MMRRC Submission

067901-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.601) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29987607-30067657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30052043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 740 (T740M)

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: T740M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: T740M

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 damaging
Transcript: ENSMUST00000220271
AA Change: T560M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,998,178 (GRCm39)	Y237H	probably damaging	Het
Adprh	T	C	16: 38,266,449 (GRCm39)	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705 (GRCm39)	S631G	probably benign	Het
Bpifa5	T	A	2: 154,007,526 (GRCm39)	L156H	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
C8b	T	C	4: 104,644,040 (GRCm39)	Y236H	probably damaging	Het
Celf2	C	T	2: 6,551,956 (GRCm39)	G508S	probably damaging	Het
Clca3a1	T	C	3: 144,710,822 (GRCm39)	T794A	probably benign	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cyp2j12	C	T	4: 95,987,899 (GRCm39)	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 77,888,602 (GRCm39)	I168T	possibly damaging	Het
Dtna	C	T	18: 23,723,398 (GRCm39)	Q201*	probably null	Het
Fetub	T	C	16: 22,752,985 (GRCm39)	S146P	possibly damaging	Het
Gak	T	G	5: 108,757,272 (GRCm39)	E242D	probably benign	Het
Gfpt2	T	A	11: 49,695,694 (GRCm39)		probably benign	Het
Ginm1	C	T	10: 7,646,130 (GRCm39)	C290Y	probably benign	Het
Hepacam	T	C	9: 37,296,006 (GRCm39)	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,493,019 (GRCm39)	S220A	unknown	Het
Hydin	A	G	8: 111,189,367 (GRCm39)	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 77,017,874 (GRCm39)	A18V	probably damaging	Het
Ift140	T	A	17: 25,313,651 (GRCm39)	C1361S	probably damaging	Het
Il16	T	C	7: 83,301,351 (GRCm39)	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,326,277 (GRCm39)	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,903,602 (GRCm39)	V316I	probably benign	Het
Marchf6	A	G	15: 31,482,695 (GRCm39)	I501T	possibly damaging	Het
Msl2	T	A	9: 100,978,167 (GRCm39)	S180R	probably benign	Het
Muc16	C	T	9: 18,569,220 (GRCm39)	V1100I	unknown	Het
Nbas	T	C	12: 13,616,251 (GRCm39)	V2263A	possibly damaging	Het
Or6b2	C	T	1: 92,408,187 (GRCm39)	S52N	probably benign	Het
Or7g33	C	T	9: 19,448,833 (GRCm39)	R131H	probably benign	Het
Pdilt	T	G	7: 119,114,109 (GRCm39)	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,328,375 (GRCm39)	T640A	probably damaging	Het
Pole2	G	C	12: 69,250,961 (GRCm39)	Y467*	probably null	Het
Rabac1	T	C	7: 24,671,672 (GRCm39)	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,001,773 (GRCm39)	Q245R	probably damaging	Het
Sae1	A	G	7: 16,104,279 (GRCm39)	V110A	probably damaging	Het
Sema3c	G	T	5: 17,867,936 (GRCm39)	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,231,963 (GRCm39)	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,930,135 (GRCm39)	T35M	probably benign	Het
Speer4b	C	T	5: 27,703,818 (GRCm39)	R107Q	probably benign	Het
Sycp2	T	C	2: 178,006,651 (GRCm39)	T843A	probably damaging	Het
Tecta	T	A	9: 42,243,856 (GRCm39)	I2004F	probably damaging	Het
Tma16	T	C	8: 66,929,448 (GRCm39)	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,610,427 (GRCm39)	Y1167*	probably null	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,830,800 (GRCm39)	T19A	probably damaging	Het
Vpreb1b	G	A	16: 17,798,753 (GRCm39)	G80S	probably damaging	Het
Wdfy4	A	G	14: 32,798,332 (GRCm39)	C2025R		Het
Zyg11a	T	A	4: 108,075,103 (GRCm39)	H6L	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
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
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'- AGACTCTGAAGGCAGTGGTCTG -3'
(R):5'- GTGTGTAAACTGCTCATCGGG -3'

Sequencing Primer
(F):5'- GGTCTGCACCATGGCTG -3'
(R):5'- AAACTGCTCATCGGGGGTGATC -3'

Posted On

2020-10-20