Mutagenetix > Incidental Mutation

Incidental Mutation 'R0501:Pdia4'

47114

Institutional Source

Beutler Lab

Gene Symbol

Pdia4

Ensembl Gene

ENSMUSG00000025823

Gene Name

protein disulfide isomerase associated 4

Synonyms

Cai, ERp72, Erp72, U48620

MMRRC Submission

038696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47773075-47790364 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47777936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 352 (V352E)

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: V352E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: V352E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102106

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,216 (GRCm39)	S415P	probably benign	Het
Adam19	C	T	11: 46,013,957 (GRCm39)	P316S	probably damaging	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adcy10	C	T	1: 165,337,959 (GRCm39)	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,707,269 (GRCm39)	Y1379C	probably damaging	Het
Akap9	T	C	5: 4,020,685 (GRCm39)	L1132P	probably damaging	Het
Aoah	A	G	13: 21,189,243 (GRCm39)	T489A	probably benign	Het
Apc2	T	C	10: 80,150,958 (GRCm39)	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,005,616 (GRCm39)	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,374,629 (GRCm39)		noncoding transcript	Het
Cacna1h	A	T	17: 25,607,641 (GRCm39)	V892E	probably damaging	Het
Car4	G	A	11: 84,854,268 (GRCm39)	V72I	probably benign	Het
Cfap91	C	G	16: 38,155,997 (GRCm39)	M75I	probably damaging	Het
Chst3	A	G	10: 60,022,049 (GRCm39)	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,127,411 (GRCm39)	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,595,296 (GRCm39)	D471V	probably damaging	Het
Cntrob	G	A	11: 69,213,694 (GRCm39)	S32F	probably damaging	Het
Cpne7	T	A	8: 123,852,994 (GRCm39)	N200K	possibly damaging	Het
Creb3l3	C	A	10: 80,922,416 (GRCm39)	M271I	probably benign	Het
Csmd1	T	A	8: 17,077,339 (GRCm39)	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 133,896,701 (GRCm39)	T563I	probably damaging	Het
Dmac1	T	G	4: 75,196,413 (GRCm39)	N26H	unknown	Het
Dop1b	T	C	16: 93,549,750 (GRCm39)	F230L	probably benign	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Fabp12	T	C	3: 10,315,203 (GRCm39)	D48G	probably benign	Het
Fbn1	G	A	2: 125,143,669 (GRCm39)	T2820M	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fcho2	A	T	13: 98,901,023 (GRCm39)	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,704,497 (GRCm39)	S470P	probably benign	Het
Gm17541	T	G	12: 4,739,730 (GRCm39)		probably benign	Het
Gm4353	A	T	7: 115,682,706 (GRCm39)	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,220,290 (GRCm39)	I69N	probably damaging	Het
Insrr	G	T	3: 87,717,991 (GRCm39)	A871S	probably benign	Het
Irs2	C	T	8: 11,056,396 (GRCm39)	V679M	probably damaging	Het
Itpr3	T	A	17: 27,326,263 (GRCm39)	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,361,784 (GRCm39)	M1074V	possibly damaging	Het
Kif1a	G	A	1: 92,983,967 (GRCm39)	R602W	probably damaging	Het
Kif21b	A	T	1: 136,090,837 (GRCm39)	D1215V	probably benign	Het
Mapk13	G	A	17: 28,995,327 (GRCm39)	V183M	probably damaging	Het
Mbp	C	T	18: 82,593,322 (GRCm39)	S100F	probably damaging	Het
Mcm6	A	G	1: 128,283,373 (GRCm39)	I44T	probably benign	Het
Ncor1	T	A	11: 62,264,148 (GRCm39)	D418V	possibly damaging	Het
Nid2	T	A	14: 19,839,736 (GRCm39)		probably null	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Or10a5	A	T	7: 106,635,439 (GRCm39)	T26S	probably benign	Het
Or10ak14	C	A	4: 118,611,027 (GRCm39)	C238F	probably benign	Het
Or12e9	A	T	2: 87,201,896 (GRCm39)	R7W	probably damaging	Het
Or13e8	A	C	4: 43,697,079 (GRCm39)	C31W	probably damaging	Het
Or1j1	A	T	2: 36,702,492 (GRCm39)	L204*	probably null	Het
Or2ag1	A	T	7: 106,313,810 (GRCm39)	M26K	probably benign	Het
Or2ag18	G	A	7: 106,405,018 (GRCm39)	S217F	probably damaging	Het
Or4a68	T	C	2: 89,270,060 (GRCm39)	T188A	probably benign	Het
Or4e1	T	A	14: 52,701,383 (GRCm39)	M1L	possibly damaging	Het
Or5d14	A	T	2: 87,880,815 (GRCm39)	I51N	probably damaging	Het
Or5m12	A	G	2: 85,735,348 (GRCm39)	F17L	probably damaging	Het
Or7g35	T	A	9: 19,495,914 (GRCm39)	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,622,978 (GRCm39)	C38S	probably damaging	Het
Pik3c2a	C	A	7: 115,953,290 (GRCm39)	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,239,846 (GRCm39)	A184E	possibly damaging	Het
Rsph3a	T	A	17: 8,197,952 (GRCm39)	L442*	probably null	Het
Scg2	G	C	1: 79,413,320 (GRCm39)	L468V	probably damaging	Het
Sdk1	A	T	5: 141,923,473 (GRCm39)	I365L	probably benign	Het
Setdb1	A	G	3: 95,246,140 (GRCm39)	V595A	probably benign	Het
Skic3	A	C	13: 76,295,925 (GRCm39)	M1063L	probably benign	Het
Slc22a22	T	A	15: 57,113,046 (GRCm39)	T398S	probably benign	Het
Stk11	C	A	10: 79,962,119 (GRCm39)	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,557 (GRCm39)	D222N	probably benign	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Tmem214	G	T	5: 31,029,876 (GRCm39)	R251L	probably damaging	Het
Tmem253	T	A	14: 52,256,036 (GRCm39)	I105N	probably damaging	Het
Toe1	A	G	4: 116,664,682 (GRCm39)	V12A	probably benign	Het
Top1	C	A	2: 160,556,079 (GRCm39)	H513N	probably damaging	Het
Tph1	G	T	7: 46,299,412 (GRCm39)	Y376*	probably null	Het
Trim45	T	A	3: 100,830,535 (GRCm39)	L103Q	probably damaging	Het
Ttn	T	A	2: 76,774,518 (GRCm39)		probably null	Het
Twnk	T	C	19: 44,996,185 (GRCm39)	V206A	probably damaging	Het
Ube2z	A	G	11: 95,941,114 (GRCm39)	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,951,049 (GRCm39)	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,272,581 (GRCm39)	T15S	probably benign	Het
Wdr59	C	T	8: 112,185,579 (GRCm39)	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,036,151 (GRCm39)	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,939,764 (GRCm39)	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,259,236 (GRCm39)	L461P	probably damaging	Het
Zcchc2	T	G	1: 105,943,821 (GRCm39)	F462C	possibly damaging	Het

Other mutations in Pdia4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01882:Pdia4	APN	6	47,780,412 (GRCm39)	missense	probably benign	0.25
IGL02207:Pdia4	APN	6	47,773,741 (GRCm39)	missense	probably benign	0.01
IGL02456:Pdia4	APN	6	47,780,429 (GRCm39)	missense	probably benign	0.19
R0078:Pdia4	UTSW	6	47,775,344 (GRCm39)	missense	possibly damaging	0.51
R0622:Pdia4	UTSW	6	47,783,452 (GRCm39)	missense	probably damaging	1.00
R1243:Pdia4	UTSW	6	47,784,054 (GRCm39)	missense	probably damaging	1.00
R1635:Pdia4	UTSW	6	47,776,133 (GRCm39)	missense	possibly damaging	0.85
R1830:Pdia4	UTSW	6	47,773,695 (GRCm39)	nonsense	probably null
R1853:Pdia4	UTSW	6	47,790,161 (GRCm39)	missense	unknown
R1854:Pdia4	UTSW	6	47,790,161 (GRCm39)	missense	unknown
R1951:Pdia4	UTSW	6	47,780,813 (GRCm39)	missense	probably damaging	1.00
R1990:Pdia4	UTSW	6	47,773,589 (GRCm39)	missense	probably benign
R2126:Pdia4	UTSW	6	47,773,771 (GRCm39)	missense	probably damaging	1.00
R2163:Pdia4	UTSW	6	47,775,341 (GRCm39)	missense	possibly damaging	0.77
R2351:Pdia4	UTSW	6	47,773,848 (GRCm39)	splice site	probably null
R2415:Pdia4	UTSW	6	47,783,490 (GRCm39)	missense	probably benign	0.27
R4375:Pdia4	UTSW	6	47,775,326 (GRCm39)	missense	probably damaging	1.00
R4376:Pdia4	UTSW	6	47,775,326 (GRCm39)	missense	probably damaging	1.00
R4377:Pdia4	UTSW	6	47,775,326 (GRCm39)	missense	probably damaging	1.00
R5132:Pdia4	UTSW	6	47,773,669 (GRCm39)	missense	probably benign	0.01
R5250:Pdia4	UTSW	6	47,773,619 (GRCm39)	missense	possibly damaging	0.55
R5339:Pdia4	UTSW	6	47,773,619 (GRCm39)	missense	possibly damaging	0.55
R5432:Pdia4	UTSW	6	47,775,400 (GRCm39)	missense	possibly damaging	0.89
R5541:Pdia4	UTSW	6	47,773,571 (GRCm39)	missense	probably damaging	1.00
R5769:Pdia4	UTSW	6	47,792,446 (GRCm39)	unclassified	probably benign
R5873:Pdia4	UTSW	6	47,785,110 (GRCm39)	missense	probably damaging	1.00
R6340:Pdia4	UTSW	6	47,777,952 (GRCm39)	missense	probably benign	0.43
R7187:Pdia4	UTSW	6	47,790,193 (GRCm39)	missense	unknown
R7231:Pdia4	UTSW	6	47,777,891 (GRCm39)	missense	probably benign
R7791:Pdia4	UTSW	6	47,784,056 (GRCm39)	missense	probably damaging	1.00
R8493:Pdia4	UTSW	6	47,773,575 (GRCm39)	nonsense	probably null
R8726:Pdia4	UTSW	6	47,785,200 (GRCm39)	nonsense	probably null
R8754:Pdia4	UTSW	6	47,773,464 (GRCm39)	missense	probably benign
R9022:Pdia4	UTSW	6	47,785,149 (GRCm39)	missense	probably benign	0.00
R9175:Pdia4	UTSW	6	47,775,417 (GRCm39)	missense	possibly damaging	0.61
RF033:Pdia4	UTSW	6	47,785,222 (GRCm39)	small deletion	probably benign
RF042:Pdia4	UTSW	6	47,785,240 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCCACATTTCAAAGTCCAGATGCTG -3'
(R):5'- TGTTCTCTGAGAGGTACTGTCGTCC -3'

Sequencing Primer
(F):5'- GAACATCCATCACGTGGAAC -3'
(R):5'- tgggaggcagagacagg -3'

Posted On

2013-06-12