Mutagenetix > Incidental Mutation

Incidental Mutation 'R8726:Pdia4'

662419

Institutional Source

Beutler Lab

Gene Symbol

Pdia4

Ensembl Gene

ENSMUSG00000025823

Gene Name

protein disulfide isomerase associated 4

Synonyms

Cai, ERp72, Erp72, U48620

MMRRC Submission

068616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47773075-47790364 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 47785200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 56 (E56*)

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
AA Change: E56*

SMART Domains

Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: E56*

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	A	G	11: 69,789,207 (GRCm39)	S331P	possibly damaging	Het
4930433I11Rik	A	G	7: 40,644,226 (GRCm39)	M632V	probably benign	Het
9930111J21Rik2	A	C	11: 48,910,507 (GRCm39)	V642G	probably damaging	Het
Abcd4	A	T	12: 84,651,171 (GRCm39)		probably benign	Het
Acsbg1	T	C	9: 54,525,462 (GRCm39)	E363G	probably damaging	Het
Ank3	T	A	10: 69,823,084 (GRCm39)	H584Q		Het
Ankrd11	A	T	8: 123,620,765 (GRCm39)	L1029Q	possibly damaging	Het
Anpep	C	T	7: 79,490,641 (GRCm39)	V292I	probably benign	Het
Atmin	G	A	8: 117,681,525 (GRCm39)	D175N	possibly damaging	Het
B4galt6	T	C	18: 20,821,450 (GRCm39)	I359M	possibly damaging	Het
Bicd2	A	G	13: 49,532,905 (GRCm39)	D497G	probably damaging	Het
Calcr	C	T	6: 3,707,489 (GRCm39)		probably benign	Het
Camkk2	G	T	5: 122,882,002 (GRCm39)	D418E	probably benign	Het
Cntn3	A	T	6: 102,146,014 (GRCm39)	Y942*	probably null	Het
Col8a1	C	T	16: 57,449,138 (GRCm39)	R124H	probably damaging	Het
Coro7	T	C	16: 4,486,619 (GRCm39)	T185A	possibly damaging	Het
Creb3	C	T	4: 43,566,747 (GRCm39)	P364S	probably benign	Het
Csf1r	A	T	18: 61,250,728 (GRCm39)	T480S	probably benign	Het
Csnk1g1	T	A	9: 65,909,553 (GRCm39)	H223Q	probably damaging	Het
Ctns	C	T	11: 73,078,613 (GRCm39)	V171M	probably benign	Het
Dhx15	A	T	5: 52,311,568 (GRCm39)	N637K	probably benign	Het
Eif4g1	T	C	16: 20,494,232 (GRCm39)	Y103H	probably damaging	Het
Eif4g2	C	T	7: 110,676,629 (GRCm39)	R295H	probably damaging	Het
Fat1	C	T	8: 45,477,206 (GRCm39)	P2084L	probably benign	Het
Fat4	A	G	3: 39,064,647 (GRCm39)	R4868G	probably damaging	Het
Fbxo31	A	T	8: 122,282,014 (GRCm39)	Y295*	probably null	Het
Fmn2	C	A	1: 174,437,404 (GRCm39)	T1125N	possibly damaging	Het
Foxi2	C	A	7: 135,012,133 (GRCm39)	P7Q	probably damaging	Het
Hmx1	C	T	5: 35,549,100 (GRCm39)	P131L	probably damaging	Het
Hrh2	T	C	13: 54,368,171 (GRCm39)	L49P	probably damaging	Het
Hycc2	T	C	1: 58,585,285 (GRCm39)	T171A	possibly damaging	Het
Igkv6-14	A	G	6: 70,412,125 (GRCm39)	V53A	possibly damaging	Het
Kcnb2	C	A	1: 15,780,876 (GRCm39)	Q583K	probably benign	Het
Kcns3	A	G	12: 11,141,692 (GRCm39)	S336P	probably damaging	Het
Kremen2	G	T	17: 23,961,720 (GRCm39)	F262L	probably damaging	Het
Krtap9-1	T	A	11: 99,764,577 (GRCm39)	C104*	probably null	Het
Ky	A	G	9: 102,405,102 (GRCm39)	Y199C	probably damaging	Het
L1td1	T	G	4: 98,622,215 (GRCm39)	L259R	probably damaging	Het
Lrba	A	G	3: 86,261,062 (GRCm39)	T1473A	probably benign	Het
Lrp6	A	T	6: 134,484,624 (GRCm39)	L333*	probably null	Het
Lrrc23	T	C	6: 124,753,043 (GRCm39)	N201S	probably benign	Het
Map4k4	C	A	1: 40,043,142 (GRCm39)	P666T	possibly damaging	Het
Matn1	T	A	4: 130,679,514 (GRCm39)	D389E	probably damaging	Het
Mdc1	G	T	17: 36,158,475 (GRCm39)	G285V	probably benign	Het
Mettl17	T	C	14: 52,128,187 (GRCm39)		probably null	Het
Mknk1	A	T	4: 115,730,506 (GRCm39)		probably benign	Het
Neurod1	A	T	2: 79,284,430 (GRCm39)	F318I	possibly damaging	Het
Nfya	T	C	17: 48,699,445 (GRCm39)	T213A	probably damaging	Het
Nmrk1	C	T	19: 18,616,902 (GRCm39)	T17M	probably damaging	Het
Ntrk1	A	C	3: 87,693,396 (GRCm39)	D245E	probably benign	Het
Nup160	C	A	2: 90,563,545 (GRCm39)	H1370Q	possibly damaging	Het
Or11h6	A	C	14: 50,880,703 (GRCm39)	K316Q	probably benign	Het
Or5w8	T	C	2: 87,688,161 (GRCm39)	V214A	probably benign	Het
Or6x1	T	A	9: 40,098,663 (GRCm39)	V84E	probably damaging	Het
Parp4	G	A	14: 56,866,556 (GRCm39)	R1040H	probably benign	Het
Pdia5	A	G	16: 35,269,784 (GRCm39)	F175S	probably damaging	Het
Piezo2	C	T	18: 63,242,956 (GRCm39)	S621N	probably benign	Het
Pigw	T	C	11: 84,768,643 (GRCm39)	T229A	possibly damaging	Het
Rasa3	T	C	8: 13,626,381 (GRCm39)	Y734C	probably benign	Het
Rfx7	T	A	9: 72,500,505 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,633,181 (GRCm39)	D178G	possibly damaging	Het
Ros1	A	G	10: 51,954,769 (GRCm39)	V1853A	possibly damaging	Het
Rps7	A	G	12: 28,681,714 (GRCm39)	I139T	probably benign	Het
Sall3	T	C	18: 81,029,708 (GRCm39)	D15G	possibly damaging	Het
Scn1a	A	T	2: 66,133,983 (GRCm39)	V137D	probably benign	Het
Slc23a3	G	A	1: 75,106,173 (GRCm39)	P349S	probably benign	Het
Slc35a5	C	G	16: 44,964,021 (GRCm39)	R404P	probably damaging	Het
Stard13	A	T	5: 150,986,607 (GRCm39)	M301K	probably benign	Het
Suclg2	A	G	6: 95,632,489 (GRCm39)	F60S	probably damaging	Het
Tecpr2	T	A	12: 110,904,668 (GRCm39)	F887L	possibly damaging	Het
Tekt4	G	T	17: 25,691,033 (GRCm39)	W113L	probably damaging	Het
Tep1	G	A	14: 51,085,080 (GRCm39)	S901F	probably damaging	Het
Tex11	C	T	X: 100,059,191 (GRCm39)	V190I	possibly damaging	Het
Thbs1	T	A	2: 117,949,957 (GRCm39)		probably null	Het
Tm9sf4	T	A	2: 153,040,295 (GRCm39)	V425D	probably damaging	Het
Tpo	A	G	12: 30,105,137 (GRCm39)	L911P	possibly damaging	Het
Ttn	T	C	2: 76,729,301 (GRCm39)	Q5332R	unknown	Het
Wdr59	A	T	8: 112,223,466 (GRCm39)	D169E		Het
Zfp799	C	A	17: 33,039,166 (GRCm39)	G367C	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
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
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'- AGCTCTTGCAGTCAGATCCTC -3'
(R):5'- AAGTAGCCATATAGTTTACAGAGGTGG -3'

Sequencing Primer
(F):5'- AGATCCTCATTTCCCCTGGGG -3'
(R):5'- GTAAGGATATCCGGCCACCATG -3'

Posted On

2021-03-08