Mutagenetix > Incidental Mutation

Incidental Mutation 'R7187:Pdia4'

559352

Institutional Source

Beutler Lab

Gene Symbol

Pdia4

Ensembl Gene

ENSMUSG00000025823

Gene Name

protein disulfide isomerase associated 4

Synonyms

Cai, ERp72, Erp72, U48620

MMRRC Submission

045377-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47773075-47790364 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47790193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 16 (T16A)

Ref Sequence

ENSEMBL: ENSMUSP00000076521 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000077290
AA Change: T16A

SMART Domains

Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: T16A

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,327,733 (GRCm39)	Y716C	probably damaging	Het
Abcc1	A	G	16: 14,284,861 (GRCm39)	I1237V	probably benign	Het
Adam34	C	T	8: 44,105,565 (GRCm39)	A27T	probably benign	Het
Aff3	T	C	1: 38,257,478 (GRCm39)	S415G	probably damaging	Het
Ak7	T	C	12: 105,711,532 (GRCm39)	Y390H	probably benign	Het
Arap2	A	C	5: 62,826,396 (GRCm39)	M1056R	probably damaging	Het
Brf1	T	C	12: 112,923,945 (GRCm39)	Y676C	unknown	Het
Cachd1	T	A	4: 100,833,552 (GRCm39)	H776Q	possibly damaging	Het
Cacng7	T	C	7: 3,385,183 (GRCm39)	V28A	probably damaging	Het
Camk2g	A	T	14: 20,792,780 (GRCm39)	D359E	probably benign	Het
Cd209b	T	C	8: 3,976,638 (GRCm39)	D16G	probably benign	Het
Ceacam5	A	G	7: 17,493,410 (GRCm39)	E811G	possibly damaging	Het
Cecr2	T	A	6: 120,733,647 (GRCm39)	S545T	probably benign	Het
Cep55	T	C	19: 38,048,806 (GRCm39)		probably null	Het
Ctif	C	A	18: 75,770,290 (GRCm39)	V32L	probably damaging	Het
Cwc27	G	A	13: 104,797,900 (GRCm39)	A353V	probably benign	Het
Dclk3	T	A	9: 111,314,064 (GRCm39)	S713R	probably damaging	Het
Dlec1	C	T	9: 118,941,214 (GRCm39)	H255Y	probably benign	Het
Dlgap1	A	G	17: 70,823,093 (GRCm39)	H26R	possibly damaging	Het
Dydc1	C	T	14: 40,800,051 (GRCm39)	T19I	possibly damaging	Het
Efcab12	G	A	6: 115,800,474 (GRCm39)	P183L	not run	Het
Eif1ad19	T	C	12: 87,740,708 (GRCm39)		probably benign	Het
Eri3	C	A	4: 117,446,343 (GRCm39)	Q219K	probably benign	Het
Fam135a	A	G	1: 24,083,295 (GRCm39)	L310P	probably damaging	Het
Fgd5	T	A	6: 91,965,272 (GRCm39)	S502T	possibly damaging	Het
Fgf8	A	G	19: 45,730,106 (GRCm39)	S57P	probably benign	Het
Gls	T	C	1: 52,259,139 (GRCm39)	E154G	probably damaging	Het
Gm28042	T	C	2: 119,870,176 (GRCm39)	L705P	probably damaging	Het
Golgb1	C	A	16: 36,736,512 (GRCm39)	Q1961K	probably benign	Het
Herc3	C	A	6: 58,833,616 (GRCm39)	Q168K	probably benign	Het
Il31ra	C	A	13: 112,682,845 (GRCm39)	C168F	probably benign	Het
Ino80	A	T	2: 119,257,072 (GRCm39)	D860E	probably benign	Het
Iqcm	T	G	8: 76,480,044 (GRCm39)	L334R	probably benign	Het
Lrrk2	A	G	15: 91,641,204 (GRCm39)	D1587G	possibly damaging	Het
Map4	T	A	9: 109,882,201 (GRCm39)	V355E	probably benign	Het
Mapk13	T	A	17: 28,995,361 (GRCm39)	I194N	probably damaging	Het
Mtus2	A	G	5: 148,013,515 (GRCm39)	T103A	probably benign	Het
Naglu	G	T	11: 100,961,158 (GRCm39)	G70W	probably benign	Het
Nlrp4f	A	T	13: 65,343,201 (GRCm39)	M126K	possibly damaging	Het
Or4c120	T	C	2: 89,001,714 (GRCm39)		probably benign	Het
Or5p61	A	T	7: 107,758,585 (GRCm39)	V165E	probably benign	Het
Pou6f2	G	A	13: 18,414,298 (GRCm39)	A159V		Het
Ripor1	A	G	8: 106,344,506 (GRCm39)	T547A	probably benign	Het
Rundc3b	A	G	5: 8,542,506 (GRCm39)	S389P	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spats2	T	C	15: 99,110,054 (GRCm39)	S484P	probably benign	Het
Supv3l1	G	A	10: 62,271,328 (GRCm39)	T403I	probably damaging	Het
Tacstd2	G	A	6: 67,512,180 (GRCm39)	R171W	probably damaging	Het
Taok2	A	T	7: 126,471,552 (GRCm39)	F542L	probably damaging	Het
Tbc1d31	T	A	15: 57,801,459 (GRCm39)	N331K	possibly damaging	Het
Tff2	A	T	17: 31,361,200 (GRCm39)	C118S	probably damaging	Het
Tmprss7	G	A	16: 45,498,317 (GRCm39)	T354I	possibly damaging	Het
Tmtc3	A	T	10: 100,313,774 (GRCm39)	F33I	probably damaging	Het
Tpbpa	G	A	13: 61,088,399 (GRCm39)		probably benign	Het
Ube3a	G	T	7: 58,925,653 (GRCm39)	V165F	probably benign	Het
Vmn2r4	T	G	3: 64,322,681 (GRCm39)	T13P	probably benign	Het
Wnt8b	A	G	19: 44,500,121 (GRCm39)	D236G	probably benign	Het
Ythdf3	C	A	3: 16,258,451 (GRCm39)	D210E	probably benign	Het
Zfp110	T	A	7: 12,583,753 (GRCm39)	Y800*	probably null	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
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'- TTCGGCCCTACACTGAAACTC -3'
(R):5'- CGGAGTTTTAAACGCGGAG -3'

Sequencing Primer
(F):5'- CCATTAAGTTCGTTGCTACCGGG -3'
(R):5'- TCGCCCTGATTCGTGCG -3'

Posted On

2019-06-26