Mutagenetix > Incidental Mutations

Incidental Mutation 'R5541:Pdia4'

435955

Institutional Source

Beutler Lab

Gene Symbol

Pdia4

Ensembl Gene

ENSMUSG00000025823

Gene Name

protein disulfide isomerase associated 4

Synonyms

Cai, U48620, Erp72, ERp72

MMRRC Submission

043099-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47796141-47813430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47796637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 593 (V593M)

Ref Sequence

ENSEMBL: ENSMUSP00000076521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077290]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000077290
AA Change: V593M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: V593M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	29	57	N/A	INTRINSIC
Pfam:Thioredoxin	59	163	4.1e-34	PFAM
Pfam:Calsequestrin	165	388	5.2e-13	PFAM
Pfam:Thioredoxin	174	278	3e-34	PFAM
Pfam:Thioredoxin_6	308	500	5.9e-21	PFAM
Pfam:Thioredoxin	522	630	5e-33	PFAM

Meta Mutation Damage Score

0.1568

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a conditional allele activated in platelets exhibit decreased platelet aggregation and increased bleeding time. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,969	H34R	probably benign	Het
1700113H08Rik	A	G	10: 87,225,946	K86R	probably benign	Het
Abca13	T	C	11: 9,291,545	V1136A	probably benign	Het
Als2cr12	A	G	1: 58,658,429	M384T	probably benign	Het
Arfgap2	G	A	2: 91,275,769	R530H	probably benign	Het
Arhgap30	T	C	1: 171,404,139		probably null	Het
Asb7	T	C	7: 66,679,269	R8G	probably benign	Het
Bod1l	T	C	5: 41,791,933	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,948,554	E227G	probably damaging	Het
Cercam	A	G	2: 29,875,629	D261G	probably benign	Het
Chd9	A	T	8: 91,051,504	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,502,839	S126R	probably damaging	Het
Defa17	T	A	8: 21,656,549	C64S	probably damaging	Het
Depdc5	A	T	5: 32,864,629		probably benign	Het
Dhx29	A	G	13: 112,940,374	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,192,988	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,145,336	Y416C	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,565,430	I106L	probably benign	Het
Gm10610	A	G	7: 83,549,406		noncoding transcript	Het
Gpr22	A	G	12: 31,709,349	F258S	probably damaging	Het
Grip1	A	T	10: 120,072,718	I618F	probably damaging	Het
H2afy2	T	C	10: 61,747,717	I215V	probably benign	Het
Hspg2	C	T	4: 137,520,551	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,542,825	Q2365K	probably benign	Het
Intu	A	G	3: 40,692,587		probably null	Het
Kdm1b	T	C	13: 47,079,196	M714T	probably damaging	Het
Kif21a	A	G	15: 90,968,113	M924T	probably damaging	Het
Klb	A	T	5: 65,379,234	M636L	probably benign	Het
Klrb1a	G	A	6: 128,609,736	H219Y	probably benign	Het
March10	C	T	11: 105,390,131	D443N	probably damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Olfr1502	T	C	19: 13,861,964	I57T	probably benign	Het
Olfr887	T	C	9: 38,085,123	C96R	probably damaging	Het
Pard3b	A	G	1: 61,639,343	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,447,416	V441E	probably damaging	Het
Pde6g	A	T	11: 120,448,172	I64N	probably damaging	Het
Pnn	T	G	12: 59,071,930	V433G	possibly damaging	Het
Rbak	G	A	5: 143,173,990	S436F	probably damaging	Het
Rpl11	A	G	4: 136,052,732		probably benign	Het
Ryr1	G	T	7: 29,086,185	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Smg1	T	A	7: 118,157,163		probably benign	Het
St8sia2	T	C	7: 73,966,900	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,398,213		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,557,970		noncoding transcript	Het
Taf1d	T	A	9: 15,308,850	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,214,026	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,669,523	T198I	probably benign	Het
Ube2q2	T	A	9: 55,191,879	V168E	possibly damaging	Het
Ucma	A	G	2: 4,981,330	R105G	probably benign	Het
Vmn2r97	C	T	17: 18,928,355	Q171*	probably null	Het
Wapl	T	C	14: 34,730,662		probably null	Het
Zfand4	T	A	6: 116,314,295	C397S	possibly damaging	Het
Zfhx3	A	G	8: 108,948,951	N2211S	probably damaging	Het
Zfp143	G	T	7: 110,070,480	G39C	probably benign	Het
Zfp568	T	A	7: 30,022,876	D414E	possibly damaging	Het
Zfp574	C	T	7: 25,081,950	A799V	probably damaging	Het

Other mutations in Pdia4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01882:Pdia4	APN	6	47803478	missense	probably benign	0.25
IGL02207:Pdia4	APN	6	47796807	missense	probably benign	0.01
IGL02456:Pdia4	APN	6	47803495	missense	probably benign	0.19
R0078:Pdia4	UTSW	6	47798410	missense	possibly damaging	0.51
R0501:Pdia4	UTSW	6	47801002	missense	probably damaging	1.00
R0622:Pdia4	UTSW	6	47806518	missense	probably damaging	1.00
R1243:Pdia4	UTSW	6	47807120	missense	probably damaging	1.00
R1635:Pdia4	UTSW	6	47799199	missense	possibly damaging	0.85
R1830:Pdia4	UTSW	6	47796761	nonsense	probably null
R1853:Pdia4	UTSW	6	47813227	missense	unknown
R1854:Pdia4	UTSW	6	47813227	missense	unknown
R1951:Pdia4	UTSW	6	47803879	missense	probably damaging	1.00
R1990:Pdia4	UTSW	6	47796655	missense	probably benign
R2126:Pdia4	UTSW	6	47796837	missense	probably damaging	1.00
R2163:Pdia4	UTSW	6	47798407	missense	possibly damaging	0.77
R2351:Pdia4	UTSW	6	47796914	splice site	probably null
R2415:Pdia4	UTSW	6	47806556	missense	probably benign	0.27
R4375:Pdia4	UTSW	6	47798392	missense	probably damaging	1.00
R4376:Pdia4	UTSW	6	47798392	missense	probably damaging	1.00
R4377:Pdia4	UTSW	6	47798392	missense	probably damaging	1.00
R5132:Pdia4	UTSW	6	47796735	missense	probably benign	0.01
R5250:Pdia4	UTSW	6	47796685	missense	possibly damaging	0.55
R5339:Pdia4	UTSW	6	47796685	missense	possibly damaging	0.55
R5432:Pdia4	UTSW	6	47798466	missense	possibly damaging	0.89
R5769:Pdia4	UTSW	6	47815512	unclassified	probably benign
R5873:Pdia4	UTSW	6	47808176	missense	probably damaging	1.00
R6340:Pdia4	UTSW	6	47801018	missense	probably benign	0.43
R7187:Pdia4	UTSW	6	47813259	missense	unknown
R7231:Pdia4	UTSW	6	47800957	missense	probably benign
R7791:Pdia4	UTSW	6	47807122	missense	probably damaging	1.00
R8493:Pdia4	UTSW	6	47796641	nonsense	probably null
R8726:Pdia4	UTSW	6	47808266	nonsense	probably null
R8754:Pdia4	UTSW	6	47796530	missense	probably benign
R9022:Pdia4	UTSW	6	47808215	missense	probably benign	0.00
R9175:Pdia4	UTSW	6	47798483	missense	possibly damaging	0.61
RF033:Pdia4	UTSW	6	47808288	small deletion	probably benign
RF042:Pdia4	UTSW	6	47808306	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AATGCTGTCCACTAGTGCC -3'
(R):5'- GTGGGAAAGACCTTTGATGCC -3'

Sequencing Primer
(F):5'- CTGTCCACTAGTGCCTGGTG -3'
(R):5'- GAAAGACCTTTGATGCCATTGTG -3'

Posted On

2016-10-24