Mutagenetix > Incidental Mutation

Incidental Mutation 'R1990:Pdia4'

224885

Institutional Source

Beutler Lab

Gene Symbol

Pdia4

Ensembl Gene

ENSMUSG00000025823

Gene Name

protein disulfide isomerase associated 4

Synonyms

Cai, ERp72, Erp72, U48620

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47773075-47790364 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47773589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 587 (T587A)

Ref Sequence

ENSEMBL: ENSMUSP00000076521 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000077290
AA Change: T587A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: T587A

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,771,419 (GRCm39)	R203*	probably null	Het
Acp6	T	C	3: 97,083,054 (GRCm39)	L355P	probably damaging	Het
Aebp2	T	C	6: 140,579,464 (GRCm39)	S234P	probably damaging	Het
Anapc7	A	G	5: 122,577,567 (GRCm39)	D374G	probably benign	Het
Apob	A	T	12: 8,051,039 (GRCm39)	I1088F	probably damaging	Het
Arid4b	T	C	13: 14,307,021 (GRCm39)	V92A	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Asxl2	G	T	12: 3,534,558 (GRCm39)	G252*	probably null	Het
Atl1	A	T	12: 70,010,102 (GRCm39)	K556M	probably damaging	Het
AU018091	A	G	7: 3,212,104 (GRCm39)	V206A	probably benign	Het
Bcas1	A	T	2: 170,212,397 (GRCm39)	D383E	possibly damaging	Het
Bmx	A	G	X: 163,015,192 (GRCm39)	W257R	probably benign	Het
Bpifb6	T	C	2: 153,747,270 (GRCm39)		probably null	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Cand1	A	G	10: 119,045,972 (GRCm39)	S978P	probably damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Caps2	G	A	10: 112,036,591 (GRCm39)	A384T	probably benign	Het
Catsperg2	A	T	7: 29,420,470 (GRCm39)	Y223*	probably null	Het
Cd81	G	T	7: 142,620,938 (GRCm39)	G206*	probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkn2aip	G	T	8: 48,165,211 (GRCm39)	N167K	probably benign	Het
Ceacam14	T	A	7: 17,549,290 (GRCm39)	L227*	probably null	Het
Ceacam5	A	T	7: 17,491,805 (GRCm39)	D725V	probably damaging	Het
Cldn34a	A	T	X: 151,346,841 (GRCm39)	H171L	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cp	A	G	3: 20,033,177 (GRCm39)	D667G	probably damaging	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Crat	A	G	2: 30,295,060 (GRCm39)	Y452H	possibly damaging	Het
Cyp4f13	T	A	17: 33,144,542 (GRCm39)	H318L	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dmbt1	A	G	7: 130,660,018 (GRCm39)	N527S	probably damaging	Het
Fcgbpl1	A	T	7: 27,853,785 (GRCm39)	D1583V	probably damaging	Het
Fgb	G	T	3: 82,951,560 (GRCm39)	Y256*	probably null	Het
Frmd3	T	A	4: 74,105,676 (GRCm39)	S441T	probably damaging	Het
Glp1r	T	A	17: 31,149,722 (GRCm39)	C329S	possibly damaging	Het
Gm14190	G	T	11: 99,581,431 (GRCm39)	Q46K	unknown	Het
Golt1b	T	A	6: 142,338,080 (GRCm39)	F17Y	probably damaging	Het
Gsdmc	A	G	15: 63,673,748 (GRCm39)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,700,086 (GRCm39)	M229L	probably benign	Het
Gulp1	A	C	1: 44,805,274 (GRCm39)	N121T	possibly damaging	Het
Ift122	T	A	6: 115,901,328 (GRCm39)	F1037I	probably damaging	Het
Ildr1	A	T	16: 36,536,568 (GRCm39)	Y199F	probably damaging	Het
Ints2	T	A	11: 86,139,760 (GRCm39)	H278L	possibly damaging	Het
Invs	T	C	4: 48,392,599 (GRCm39)	V271A	possibly damaging	Het
Kcnj2	T	C	11: 110,963,709 (GRCm39)	I367T	probably benign	Het
Kif21b	T	C	1: 136,089,508 (GRCm39)	S1115P	probably damaging	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Lcmt2	C	A	2: 120,970,762 (GRCm39)	R107L	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc9	A	C	12: 72,544,635 (GRCm39)	R71S	probably damaging	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mis18bp1	T	C	12: 65,205,468 (GRCm39)	T235A	probably benign	Het
Mta2	C	T	19: 8,919,696 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nek10	A	G	14: 14,860,764 (GRCm38)	T467A	probably benign	Het
Nexn	A	T	3: 151,958,576 (GRCm39)	F106I	probably damaging	Het
Nrdc	T	A	4: 108,896,972 (GRCm39)	Y282*	probably null	Het
Nxf3	G	A	X: 134,976,583 (GRCm39)	P380S	possibly damaging	Het
Oma1	C	T	4: 103,178,971 (GRCm39)	T208I	probably damaging	Het
Or1a1	T	C	11: 74,086,989 (GRCm39)	V220A	probably damaging	Het
Or4c31	A	G	2: 88,291,686 (GRCm39)	M1V	probably null	Het
Or4d10c	C	A	19: 12,065,620 (GRCm39)	V179F	probably damaging	Het
Or4p21	A	G	2: 88,277,033 (GRCm39)	L83P	probably damaging	Het
Or51a42	A	T	7: 103,708,335 (GRCm39)	I158N	possibly damaging	Het
Or52l1	A	T	7: 104,830,221 (GRCm39)	C115S	probably damaging	Het
Or5p66	C	A	7: 107,885,566 (GRCm39)	G256*	probably null	Het
Or5p70	A	G	7: 107,995,041 (GRCm39)	Y238C	probably benign	Het
Panx2	A	T	15: 88,953,941 (GRCm39)	Y632F	possibly damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pigk	T	A	3: 152,450,131 (GRCm39)	Y212N	probably damaging	Het
Pramel22	T	A	4: 143,380,838 (GRCm39)	Y395F	probably damaging	Het
Prl3b1	C	T	13: 27,429,775 (GRCm39)	T71I	possibly damaging	Het
Rab3gap1	A	G	1: 127,870,166 (GRCm39)	E929G	possibly damaging	Het
Rabl3	T	C	16: 37,384,079 (GRCm39)	I162T	probably benign	Het
Rasgrf2	T	A	13: 92,172,473 (GRCm39)	T188S	probably damaging	Het
Slc12a2	A	G	18: 58,043,358 (GRCm39)	I601V	possibly damaging	Het
Slc25a42	A	T	8: 70,644,519 (GRCm39)	I60N	probably benign	Het
Slc2a3	C	T	6: 122,713,694 (GRCm39)	G173S	probably damaging	Het
Slc46a3	G	A	5: 147,823,404 (GRCm39)	T146M	probably damaging	Het
Specc1	C	A	11: 61,920,120 (GRCm39)	P7T	possibly damaging	Het
Sptbn4	T	C	7: 27,123,235 (GRCm39)	D229G	probably benign	Het
Sspo	T	C	6: 48,427,984 (GRCm39)	I154T	probably benign	Het
Stx5a	T	C	19: 8,726,254 (GRCm39)		probably null	Het
Stxbp6	A	T	12: 44,902,640 (GRCm39)	C210*	probably null	Het
Tagap1	C	T	17: 7,224,285 (GRCm39)	R137Q	probably benign	Het
Tbc1d9	A	G	8: 83,997,932 (GRCm39)	Y1163C	probably damaging	Het
Tex14	T	G	11: 87,440,296 (GRCm39)	L1367R	probably damaging	Het
Tnnt3	C	T	7: 142,065,262 (GRCm39)	R131C	possibly damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,424,188 (GRCm39)	S1485L	probably benign	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Unc80	T	C	1: 66,731,708 (GRCm39)	L3053P	probably damaging	Het
Wars1	G	T	12: 108,854,359 (GRCm39)	N18K	possibly damaging	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Xndc1	T	A	7: 101,722,398 (GRCm39)	V21E	probably damaging	Het
Zfp493	T	A	13: 67,934,388 (GRCm39)	C114S	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
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'- CAATGCTGTCCACTAGTGCC -3'
(R):5'- GTGGGAAAGACCTTTGATGCC -3'

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

Posted On

2014-08-25