Mutagenetix > Incidental Mutations

Incidental Mutation 'R6191:Pxdn'

502588

Institutional Source

Beutler Lab

Gene Symbol

Pxdn

Ensembl Gene

ENSMUSG00000020674

Gene Name

peroxidasin

Synonyms

VPO1, 2310075M15Rik

MMRRC Submission

044331-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29937608-30017658 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29982717 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 167 (I167F)

Ref Sequence

ENSEMBL: ENSMUSP00000113703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118321] [ENSMUST00000122328] [ENSMUST00000220271]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118321
AA Change: I143F

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113477
Gene: ENSMUSG00000020674
AA Change: I143F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122328
AA Change: I167F

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113703
Gene: ENSMUSG00000020674
AA Change: I167F

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: ENSMUST00000155318

Predicted Effect

probably benign
Transcript: ENSMUST00000220271

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 56,002,523	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,245,538	K334N	probably benign	Het
Ano6	T	C	15: 95,948,499		probably null	Het
Ap1m2	C	A	9: 21,299,305	V343F	probably benign	Het
Apol6	T	C	15: 77,055,898	V307A	probably benign	Het
Arsi	C	A	18: 60,912,472	A78E	probably damaging	Het
B2m	A	T	2: 122,150,915	N37I	possibly damaging	Het
C8a	T	C	4: 104,845,903	K363R	probably benign	Het
Ccdc117	C	A	11: 5,534,242		probably null	Het
Ccdc154	C	A	17: 25,167,971	Q325K	probably damaging	Het
Cd300e	A	T	11: 115,054,533	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,317,393	P673Q	probably damaging	Het
Csn2	A	G	5: 87,696,026		probably null	Het
Ctnna1	T	C	18: 35,174,355	V135A	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dnah12	A	G	14: 26,710,257	H410R	probably benign	Het
Dock2	C	T	11: 34,231,652	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,177,348	N526D	unknown	Het
Frem2	T	C	3: 53,655,280	H602R	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Grina	T	C	15: 76,249,018	V262A	probably damaging	Het
Gse1	G	A	8: 120,553,803		probably null	Het
H2-Oa	C	A	17: 34,093,868	Q40K	probably damaging	Het
Hfm1	C	A	5: 106,886,553	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,458,746	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,889,203	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itpr2	A	G	6: 146,328,335	V1221A	probably benign	Het
K230010J24Rik	T	C	15: 76,046,369		probably null	Het
Kdm6b	T	C	11: 69,406,758	N285S	probably benign	Het
Klk1b1	T	A	7: 43,970,657	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,826,828		probably benign	Het
Lama5	T	A	2: 180,180,611	T2890S	probably damaging	Het
Lama5	T	C	2: 180,185,959	D2170G	probably damaging	Het
Lsm2	T	A	17: 34,982,155		probably benign	Het
Map3k5	G	T	10: 20,023,669	C232F	probably damaging	Het
Mapk9	T	G	11: 49,863,556	D45E	probably damaging	Het
Mpnd	T	C	17: 56,012,482	V315A	possibly damaging	Het
Msh2	A	G	17: 87,723,472	I926V	probably benign	Het
Mtcl1	C	T	17: 66,343,526	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,627,990		probably null	Het
Neo1	T	C	9: 58,889,029	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,570,859	S259G	probably benign	Het
Nkain4	G	A	2: 180,936,003	P186L	probably damaging	Het
Nkain4	G	A	2: 180,936,004	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,457	R73*	probably null	Het
Nr5a2	T	C	1: 136,890,798	D330G	probably damaging	Het
Nup54	A	G	5: 92,424,294	L299P	probably damaging	Het
Olfr259	A	G	2: 87,107,952	V145A	probably damaging	Het
Olfr56	T	C	11: 49,135,050	L286P	probably damaging	Het
Pcdhb8	T	A	18: 37,356,226	V319E	probably benign	Het
Pcsk6	T	A	7: 65,929,127	D129E	probably benign	Het
Pld5	G	A	1: 175,970,534	T433I	probably benign	Het
Plin1	A	T	7: 79,721,599	L459H	probably benign	Het
Psd4	T	C	2: 24,394,487	V121A	probably damaging	Het
R3hdm2	T	C	10: 127,484,515	S569P	probably damaging	Het
Rfng	T	A	11: 120,782,690	T202S	probably damaging	Het
Robo1	T	C	16: 72,933,808	S266P	probably benign	Het
Sema3c	G	T	5: 17,653,806	V68L	probably damaging	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Slfn8	A	G	11: 83,016,800	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,838,052	D144G	probably damaging	Het
St7l	T	G	3: 104,868,033	F75C	probably damaging	Het
Stard10	A	G	7: 101,343,261	I145V	probably damaging	Het
Tekt3	C	T	11: 63,078,173	A242V	probably damaging	Het
Tex44	A	G	1: 86,426,584		probably benign	Het
Thg1l	T	C	11: 45,954,161	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,346,287	I67N	probably damaging	Het
Ttn	G	A	2: 76,847,426		probably benign	Het
Ube4a	A	T	9: 44,949,753	L253*	probably null	Het
Uggt1	A	T	1: 36,162,208	N1150K	probably damaging	Het
Uhrf1bp1l	G	T	10: 89,805,318	G784C	possibly damaging	Het
Ush2a	T	A	1: 188,263,101	L23*	probably null	Het
Usp22	T	A	11: 61,174,776	N37I	probably benign	Het
Usp53	T	A	3: 122,949,741	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,415,281	K6E	probably benign	Het
Vps13d	C	T	4: 145,149,348	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,114,531	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,264,330	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,990,170		probably benign	Het
Zfp345	A	C	2: 150,473,090	Y176D	probably benign	Het
Zfp598	T	C	17: 24,677,876	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,502,994	D10G	probably damaging	Het
Zmat4	T	G	8: 23,902,067	M13R	probably damaging	Het

Other mutations in Pxdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Pxdn	APN	12	29987099	missense	probably damaging	1.00
IGL01152:Pxdn	APN	12	30001937	missense	probably damaging	0.99
IGL01286:Pxdn	APN	12	29982754	missense	probably benign	0.04
IGL01323:Pxdn	APN	12	29987137	missense	probably benign	0.00
IGL01338:Pxdn	APN	12	30002797	missense	probably damaging	1.00
IGL01341:Pxdn	APN	12	30002487	missense	probably damaging	1.00
IGL01401:Pxdn	APN	12	30001984	missense	probably damaging	1.00
IGL01580:Pxdn	APN	12	29984493	missense	probably benign	0.18
IGL01650:Pxdn	APN	12	30002401	missense	probably benign	0.01
IGL01679:Pxdn	APN	12	29999902	missense	probably damaging	0.97
IGL01866:Pxdn	APN	12	29984571	missense	probably benign	0.02
IGL02354:Pxdn	APN	12	29999189	missense	probably damaging	1.00
IGL02361:Pxdn	APN	12	29999189	missense	probably damaging	1.00
IGL02427:Pxdn	APN	12	29984532	missense	probably damaging	1.00
IGL02955:Pxdn	APN	12	30003157	missense	probably damaging	1.00
IGL03079:Pxdn	APN	12	30002998	missense	probably damaging	0.97
IGL03111:Pxdn	APN	12	29982756	missense	probably damaging	0.99
IGL02988:Pxdn	UTSW	12	30003114	nonsense	probably null
PIT4280001:Pxdn	UTSW	12	29995328	missense	probably damaging	0.99
PIT4469001:Pxdn	UTSW	12	30005829	missense	probably benign	0.00
R0070:Pxdn	UTSW	12	29982727	missense	probably damaging	0.99
R0070:Pxdn	UTSW	12	29982727	missense	probably damaging	0.99
R0086:Pxdn	UTSW	12	30002419	missense	possibly damaging	0.95
R0140:Pxdn	UTSW	12	29982754	missense	probably benign	0.04
R0201:Pxdn	UTSW	12	30002431	missense	possibly damaging	0.79
R0282:Pxdn	UTSW	12	29984440	nonsense	probably null
R0310:Pxdn	UTSW	12	30015529	missense	probably damaging	1.00
R0426:Pxdn	UTSW	12	29987066	missense	possibly damaging	0.89
R0468:Pxdn	UTSW	12	29994486	missense	probably damaging	0.99
R0825:Pxdn	UTSW	12	29984996	splice site	probably benign
R0885:Pxdn	UTSW	12	30003402	missense	probably benign	0.30
R1420:Pxdn	UTSW	12	30002068	missense	probably damaging	1.00
R1588:Pxdn	UTSW	12	30002559	missense	probably damaging	1.00
R2269:Pxdn	UTSW	12	30005775	missense	probably damaging	0.97
R2280:Pxdn	UTSW	12	29984906	missense	probably damaging	0.98
R2504:Pxdn	UTSW	12	30003406	missense	probably damaging	1.00
R2679:Pxdn	UTSW	12	29975569	splice site	probably benign
R3116:Pxdn	UTSW	12	30002307	missense	possibly damaging	0.89
R3607:Pxdn	UTSW	12	29990918	missense	probably benign	0.04
R4033:Pxdn	UTSW	12	30003225	missense	probably benign	0.19
R4576:Pxdn	UTSW	12	30011923	missense	probably benign
R4659:Pxdn	UTSW	12	29994553	missense	probably benign	0.01
R4681:Pxdn	UTSW	12	30012326	missense	probably benign	0.45
R4968:Pxdn	UTSW	12	30000012	missense	probably benign	0.25
R5032:Pxdn	UTSW	12	30003141	missense	probably benign	0.08
R5232:Pxdn	UTSW	12	29990988	missense	probably benign	0.08
R5366:Pxdn	UTSW	12	30002900	missense	probably damaging	1.00
R5504:Pxdn	UTSW	12	30002801	missense	probably damaging	1.00
R5586:Pxdn	UTSW	12	30003142	missense	probably damaging	0.99
R5739:Pxdn	UTSW	12	29982334	missense	probably benign	0.03
R5877:Pxdn	UTSW	12	30003046	missense	probably damaging	1.00
R6167:Pxdn	UTSW	12	29974001	missense	probably damaging	1.00
R6200:Pxdn	UTSW	12	30003112	missense	probably damaging	1.00
R6609:Pxdn	UTSW	12	30002941	missense	probably benign	0.00
R6628:Pxdn	UTSW	12	29999918	missense	probably damaging	1.00
R6865:Pxdn	UTSW	12	30014583	splice site	probably null
R6921:Pxdn	UTSW	12	30015505	missense	probably damaging	0.96
R6995:Pxdn	UTSW	12	29995371	missense	possibly damaging	0.95
R7211:Pxdn	UTSW	12	29984904	missense	possibly damaging	0.77
R7220:Pxdn	UTSW	12	29994480	missense	probably benign	0.02
R7347:Pxdn	UTSW	12	30012261	missense	probably benign	0.01
R7402:Pxdn	UTSW	12	30002439	missense	probably damaging	1.00
R7408:Pxdn	UTSW	12	29990945	missense	probably benign	0.29
R7413:Pxdn	UTSW	12	30002928	missense	probably benign	0.00
R7447:Pxdn	UTSW	12	29984927	missense	probably damaging	1.00
R7572:Pxdn	UTSW	12	30006705	missense	probably damaging	1.00
R7708:Pxdn	UTSW	12	30006602	missense	probably damaging	0.99
R7815:Pxdn	UTSW	12	30005825	missense	probably damaging	0.96
R7972:Pxdn	UTSW	12	30006602	missense	probably damaging	0.99
R8097:Pxdn	UTSW	12	30006602	missense	probably damaging	0.99
R8098:Pxdn	UTSW	12	30006602	missense	probably damaging	0.99
R8205:Pxdn	UTSW	12	30006567	missense	probably damaging	1.00
R8262:Pxdn	UTSW	12	29999196	nonsense	probably null
R8335:Pxdn	UTSW	12	30002097	missense	probably damaging	0.99
R8356:Pxdn	UTSW	12	30011890	missense	probably damaging	0.99
R8437:Pxdn	UTSW	12	30002044	missense	probably damaging	1.00
R8456:Pxdn	UTSW	12	30011890	missense	probably damaging	0.99
Z1177:Pxdn	UTSW	12	29990852	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAATCATCAGAAGTGGGACTC -3'
(R):5'- CTTCGCTGAAGCTGGAAATGC -3'

Sequencing Primer
(F):5'- TCAGAAGTGGGACTCAATATTTTATG -3'
(R):5'- TGGAAATGCTTGCCCAGTC -3'

Posted On

2018-02-27