Mutagenetix > Incidental Mutation

Incidental Mutation 'R6921:Pxdn'

539656

Institutional Source

Beutler Lab

Gene Symbol

Pxdn

Ensembl Gene

ENSMUSG00000020674

Gene Name

peroxidasin

Synonyms

2310075M15Rik, VPO1

MMRRC Submission

045006-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

R6921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29987607-30067657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 30065504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 1275 (P1275A)

Ref Sequence

ENSEMBL: ENSMUSP00000151320 (fasta)

Gene Model

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

AlphaFold

Q3UQ28

Predicted Effect

probably damaging
Transcript: ENSMUST00000122328
AA Change: P1455A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: P1455A

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: P1275A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.4%

Validation Efficiency

96% (46/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,166,019 (GRCm39)	H118Q	probably damaging	Het
Adgrl3	T	G	5: 81,796,560 (GRCm39)	V623G	probably damaging	Het
B9d2	A	G	7: 25,385,442 (GRCm39)	D84G	probably damaging	Het
Clec1a	A	T	6: 129,405,827 (GRCm39)	L268H	probably damaging	Het
Copa	A	T	1: 171,939,491 (GRCm39)	N576I	possibly damaging	Het
Cyp11b1	T	C	15: 74,712,798 (GRCm39)	T88A	probably benign	Het
Dis3l2	T	C	1: 86,785,063 (GRCm39)	I318T	probably benign	Het
Dmtf1	T	C	5: 9,180,654 (GRCm39)		probably benign	Het
Dnah17	C	A	11: 117,932,310 (GRCm39)	A3639S	probably damaging	Het
Dnajc8	T	A	4: 132,272,031 (GRCm39)	I89N	probably damaging	Het
Dync2h1	T	A	9: 7,102,549 (GRCm39)	H377L	probably benign	Het
Erfe	T	A	1: 91,298,054 (GRCm39)	I212N	probably benign	Het
Fam117b	A	G	1: 59,992,094 (GRCm39)	T248A	probably damaging	Het
Fbxo10	A	T	4: 45,044,849 (GRCm39)	N595K	probably damaging	Het
Fzd10	T	A	5: 128,678,646 (GRCm39)	M122K	probably damaging	Het
Gpr15	C	T	16: 58,538,144 (GRCm39)	R315H	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
H6pd	T	C	4: 150,066,508 (GRCm39)	D626G	probably damaging	Het
Hexd	A	G	11: 121,113,107 (GRCm39)	D514G	probably damaging	Het
Hoxd4	T	C	2: 74,558,836 (GRCm39)	S220P	possibly damaging	Het
Invs	A	G	4: 48,396,260 (GRCm39)	H311R	possibly damaging	Het
Ip6k1	A	G	9: 107,901,634 (GRCm39)	T70A	probably damaging	Het
Lipt2	T	C	7: 99,809,578 (GRCm39)	C222R	probably damaging	Het
Lrrc3	T	A	10: 77,736,866 (GRCm39)	D190V	probably damaging	Het
Marchf10	T	C	11: 105,280,603 (GRCm39)	T561A	probably benign	Het
Mcm10	G	A	2: 5,005,746 (GRCm39)	T463I	probably benign	Het
Mideas	A	G	12: 84,203,233 (GRCm39)	S890P	probably damaging	Het
Mmel1	T	C	4: 154,966,134 (GRCm39)	L52P	probably damaging	Het
Nipbl	T	C	15: 8,332,969 (GRCm39)	N2218S	probably benign	Het
Nr4a3	C	T	4: 48,051,486 (GRCm39)	P80L	probably benign	Het
Nrip1	C	T	16: 76,089,476 (GRCm39)	G694R	possibly damaging	Het
Oit3	A	T	10: 59,271,767 (GRCm39)	C197S	probably damaging	Het
Or5al1	C	T	2: 85,990,196 (GRCm39)	V173M	probably benign	Het
Or8b1b	A	G	9: 38,375,543 (GRCm39)	I69V	probably benign	Het
Otol1	A	G	3: 69,935,433 (GRCm39)	E475G	possibly damaging	Het
Pes1	T	C	11: 3,923,330 (GRCm39)	F168L	probably damaging	Het
Plch1	C	T	3: 63,615,155 (GRCm39)	R780H	possibly damaging	Het
Sgcz	T	C	8: 37,993,443 (GRCm39)	E218G	probably damaging	Het
Slc27a5	A	T	7: 12,725,135 (GRCm39)	N437K	probably damaging	Het
Sult2b1	A	G	7: 45,384,612 (GRCm39)	S155P	probably damaging	Het
Tgfbrap1	T	C	1: 43,091,056 (GRCm39)	M690V	probably benign	Het
Tmem151a	A	T	19: 5,133,119 (GRCm39)	L29Q	probably damaging	Het
Tmprss2	A	G	16: 97,369,637 (GRCm39)	I379T	probably damaging	Het
Vmn1r168	T	A	7: 23,240,323 (GRCm39)	V60E	probably damaging	Het
Vmn2r73	A	C	7: 85,507,446 (GRCm39)	V622G	probably benign	Het
Wdr72	A	G	9: 74,117,928 (GRCm39)	H880R	probably benign	Het
Zfhx3	A	G	8: 109,678,024 (GRCm39)	T3025A	possibly 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
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'- ACGCTCCAATTAGTGTCTTCAG -3'
(R):5'- TGTCTGAGATCCCAACTTGTCC -3'

Sequencing Primer
(F):5'- TCCAGCTGAGTCGAGCACAG -3'
(R):5'- GAGATCCCAACTTGTCCTGTGG -3'

Posted On

2018-11-06