Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Pdia4'

246126

Institutional Source

Beutler Lab

Gene Symbol

Pdia4

Ensembl Gene

ENSMUSG00000025823

Gene Name

protein disulfide isomerase associated 4

Synonyms

Cai, ERp72, Erp72, U48620

MMRRC Submission

040333-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2351 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47773075-47790364 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 47773848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076521 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000077290

SMART Domains

Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,846 (GRCm39)	Y135*	probably null	Het
Aadacl4fm1	A	T	4: 144,255,348 (GRCm39)	Y256F	probably damaging	Het
Acad10	A	T	5: 121,767,990 (GRCm39)	I820K	probably benign	Het
Arl8b	A	T	6: 108,798,484 (GRCm39)	I178F	possibly damaging	Het
Asap1	A	T	15: 64,007,653 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,766,718 (GRCm39)	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,615,060 (GRCm39)	D43E	probably benign	Het
Ccdc162	C	A	10: 41,431,968 (GRCm39)		probably null	Het
Ccdc186	T	G	19: 56,787,129 (GRCm39)	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,676,046 (GRCm39)	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,314,344 (GRCm39)	N123K	possibly damaging	Het
Col18a1	C	T	10: 76,948,538 (GRCm39)	G325S	probably benign	Het
Cwc25	G	T	11: 97,638,218 (GRCm39)	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,428,510 (GRCm39)	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 33,144,570 (GRCm39)	I309L	probably benign	Het
Dap3	A	T	3: 88,840,870 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,403,301 (GRCm39)	D3080E	probably benign	Het
Ern2	A	G	7: 121,770,731 (GRCm39)	V762A	probably damaging	Het
Fgr	C	T	4: 132,724,548 (GRCm39)	R255C	probably damaging	Het
Gcm2	A	T	13: 41,257,094 (GRCm39)	D218E	probably benign	Het
Gfi1	A	G	5: 107,869,640 (GRCm39)	S131P	probably damaging	Het
Grm8	A	T	6: 28,126,118 (GRCm39)	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,113,226 (GRCm39)	D840G	probably benign	Het
H3f3a	T	C	1: 180,637,723 (GRCm39)	T81A	probably benign	Het
Igsf23	C	T	7: 19,678,723 (GRCm39)	W22*	probably null	Het
Il12rb2	G	A	6: 67,338,928 (GRCm39)	Q3*	probably null	Het
Ino80d	A	T	1: 63,124,994 (GRCm39)	L156H	probably benign	Het
Kdm2a	G	A	19: 4,379,154 (GRCm39)	P554S	probably benign	Het
Lefty1	T	A	1: 180,764,807 (GRCm39)	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010 (GRCm39)	S4398T	probably benign	Het
Myh10	A	G	11: 68,683,965 (GRCm39)	D1126G	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,341,574 (GRCm39)	D111V	probably damaging	Het
Naip6	T	A	13: 100,420,169 (GRCm39)	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,276,257 (GRCm39)	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921 (GRCm39)	I77F	probably damaging	Het
Nvl	T	C	1: 180,958,357 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,003,438 (GRCm39)	R1287G	probably damaging	Het
Opn3	T	C	1: 175,520,077 (GRCm39)	D9G	probably benign	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or4c114	C	T	2: 88,904,743 (GRCm39)	G231S	possibly damaging	Het
Or6a2	A	T	7: 106,600,883 (GRCm39)	Y61*	probably null	Het
Or6c8b	A	G	10: 128,882,797 (GRCm39)	V45A	probably benign	Het
Or6k2	T	A	1: 173,986,486 (GRCm39)	V49D	probably damaging	Het
Or8k24	C	T	2: 86,216,471 (GRCm39)	C97Y	probably damaging	Het
Parp10	A	T	15: 76,127,056 (GRCm39)	S101R	probably benign	Het
Pdhx	T	A	2: 102,854,562 (GRCm39)	K399*	probably null	Het
Pla2g4f	T	C	2: 120,130,923 (GRCm39)	D844G	probably benign	Het
Prtg	C	A	9: 72,764,106 (GRCm39)	D526E	probably damaging	Het
Rassf6	T	C	5: 90,779,418 (GRCm39)	D5G	probably benign	Het
Riok3	C	T	18: 12,282,724 (GRCm39)	Q388*	probably null	Het
Robo4	T	A	9: 37,322,956 (GRCm39)	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,018,868 (GRCm39)	E103K	probably benign	Het
Rpl18a	A	T	8: 71,348,864 (GRCm39)	H37Q	probably benign	Het
Ryr1	A	T	7: 28,774,718 (GRCm39)	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,691,660 (GRCm39)	D2E	possibly damaging	Het
Slco5a1	C	T	1: 13,060,158 (GRCm39)	V188I	probably benign	Het
Son	T	A	16: 91,454,547 (GRCm39)	M1098K	probably damaging	Het
Spag9	A	G	11: 93,983,726 (GRCm39)	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,495 (GRCm39)	F46S	possibly damaging	Het
Sspo	C	T	6: 48,441,803 (GRCm39)	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,424,121 (GRCm39)	I209V	probably benign	Het
Tlk2	A	G	11: 105,100,656 (GRCm39)	Y87C	probably damaging	Het
Traf4	G	A	11: 78,051,002 (GRCm39)	R385W	probably damaging	Het
Triobp	G	A	15: 78,888,780 (GRCm39)	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,506 (GRCm39)	I56L	probably benign	Het
Upp2	T	A	2: 58,653,674 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,869,457 (GRCm39)	W2654R	probably damaging	Het
Zc3h18	C	T	8: 123,129,926 (GRCm39)	R435*	probably null	Het
Zfta	T	C	19: 7,399,609 (GRCm39)	I247T	probably 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
R0501:Pdia4	UTSW	6	47,777,936 (GRCm39)	missense	probably damaging	1.00
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
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'- ATAGGCTCTAGCTGCTTGCAG -3'
(R):5'- CCTGCATTGGTCAGTGTCTCTG -3'

Sequencing Primer
(F):5'- TAGCTGCTTGCAGTGCCC -3'
(R):5'- AGACTGAATTTTGTAGAGACTGGG -3'

Posted On

2014-10-30