Incidental Mutation 'R7187:Pdia4'
ID559352
Institutional Source Beutler Lab
Gene Symbol Pdia4
Ensembl Gene ENSMUSG00000025823
Gene Nameprotein disulfide isomerase associated 4
SynonymsCai, U48620, Erp72, ERp72
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7187 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location47796141-47813430 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 47813259 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 16 (T16A)
Ref Sequence ENSEMBL: ENSMUSP00000076521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077290]
Predicted Effect unknown
Transcript: ENSMUST00000077290
AA Change: T16A
SMART Domains Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: T16A

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,437,721 Y716C probably damaging Het
Abcc1 A G 16: 14,466,997 I1237V probably benign Het
Adam34 C T 8: 43,652,528 A27T probably benign Het
Aff3 T C 1: 38,218,397 S415G probably damaging Het
Ak7 T C 12: 105,745,273 Y390H probably benign Het
Arap2 A C 5: 62,669,053 M1056R probably damaging Het
Brf1 T C 12: 112,960,325 Y676C unknown Het
Cachd1 T A 4: 100,976,355 H776Q possibly damaging Het
Cacng7 T C 7: 3,336,667 V28A probably damaging Het
Camk2g A T 14: 20,742,712 D359E probably benign Het
Cd209b T C 8: 3,926,638 D16G probably benign Het
Ceacam5 A G 7: 17,759,485 E811G possibly damaging Het
Cecr2 T A 6: 120,756,686 S545T probably benign Het
Cep55 T C 19: 38,060,358 probably null Het
Ctif C A 18: 75,637,219 V32L probably damaging Het
Cwc27 G A 13: 104,661,392 A353V probably benign Het
Dclk3 T A 9: 111,484,996 S713R probably damaging Het
Dlec1 C T 9: 119,112,146 H255Y probably benign Het
Dlgap1 A G 17: 70,516,098 H26R possibly damaging Het
Dydc1 C T 14: 41,078,094 T19I possibly damaging Het
Efcab12 G A 6: 115,823,513 P183L not run Het
Eri3 C A 4: 117,589,146 Q219K probably benign Het
Fam135a A G 1: 24,044,214 L310P probably damaging Het
Fgd5 T A 6: 91,988,291 S502T possibly damaging Het
Fgf8 A G 19: 45,741,667 S57P probably benign Het
Gls T C 1: 52,219,980 E154G probably damaging Het
Gm21319 T C 12: 87,773,938 probably benign Het
Gm28042 T C 2: 120,039,695 L705P probably damaging Het
Golgb1 C A 16: 36,916,150 Q1961K probably benign Het
Herc3 C A 6: 58,856,631 Q168K probably benign Het
Il31ra C A 13: 112,546,311 C168F probably benign Het
Ino80 A T 2: 119,426,591 D860E probably benign Het
Iqcm T G 8: 75,753,416 L334R probably benign Het
Lrrk2 A G 15: 91,757,001 D1587G possibly damaging Het
Map4 T A 9: 110,053,133 V355E probably benign Het
Mapk13 T A 17: 28,776,387 I194N probably damaging Het
Mtus2 A G 5: 148,076,705 T103A probably benign Het
Naglu G T 11: 101,070,332 G70W probably benign Het
Nlrp4f A T 13: 65,195,387 M126K possibly damaging Het
Olfr1225 T C 2: 89,171,370 probably benign Het
Olfr485 A T 7: 108,159,378 V165E probably benign Het
Pou6f2 G A 13: 18,239,713 A159V Het
Ripor1 A G 8: 105,617,874 T547A probably benign Het
Rundc3b A G 5: 8,492,506 S389P probably damaging Het
Sorbs1 G C 19: 40,376,800 R180G probably benign Het
Spats2 T C 15: 99,212,173 S484P probably benign Het
Supv3l1 G A 10: 62,435,549 T403I probably damaging Het
Tacstd2 G A 6: 67,535,196 R171W probably damaging Het
Taok2 A T 7: 126,872,380 F542L probably damaging Het
Tbc1d31 T A 15: 57,938,063 N331K possibly damaging Het
Tff2 A T 17: 31,142,226 C118S probably damaging Het
Tmprss7 G A 16: 45,677,954 T354I possibly damaging Het
Tmtc3 A T 10: 100,477,912 F33I probably damaging Het
Tpbpa G A 13: 60,940,585 probably benign Het
Ube3a G T 7: 59,275,905 V165F probably benign Het
Vmn2r4 T G 3: 64,415,260 T13P probably benign Het
Wnt8b A G 19: 44,511,682 D236G probably benign Het
Ythdf3 C A 3: 16,204,287 D210E probably benign Het
Zfp110 T A 7: 12,849,826 Y800* probably null Het
Other mutations in Pdia4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01882:Pdia4 APN 6 47803478 missense probably benign 0.25
IGL02207:Pdia4 APN 6 47796807 missense probably benign 0.01
IGL02456:Pdia4 APN 6 47803495 missense probably benign 0.19
R0078:Pdia4 UTSW 6 47798410 missense possibly damaging 0.51
R0501:Pdia4 UTSW 6 47801002 missense probably damaging 1.00
R0622:Pdia4 UTSW 6 47806518 missense probably damaging 1.00
R1243:Pdia4 UTSW 6 47807120 missense probably damaging 1.00
R1635:Pdia4 UTSW 6 47799199 missense possibly damaging 0.85
R1830:Pdia4 UTSW 6 47796761 nonsense probably null
R1853:Pdia4 UTSW 6 47813227 missense unknown
R1854:Pdia4 UTSW 6 47813227 missense unknown
R1951:Pdia4 UTSW 6 47803879 missense probably damaging 1.00
R1990:Pdia4 UTSW 6 47796655 missense probably benign
R2126:Pdia4 UTSW 6 47796837 missense probably damaging 1.00
R2163:Pdia4 UTSW 6 47798407 missense possibly damaging 0.77
R2351:Pdia4 UTSW 6 47796914 splice site probably null
R2415:Pdia4 UTSW 6 47806556 missense probably benign 0.27
R4375:Pdia4 UTSW 6 47798392 missense probably damaging 1.00
R4376:Pdia4 UTSW 6 47798392 missense probably damaging 1.00
R4377:Pdia4 UTSW 6 47798392 missense probably damaging 1.00
R5132:Pdia4 UTSW 6 47796735 missense probably benign 0.01
R5250:Pdia4 UTSW 6 47796685 missense possibly damaging 0.55
R5339:Pdia4 UTSW 6 47796685 missense possibly damaging 0.55
R5432:Pdia4 UTSW 6 47798466 missense possibly damaging 0.89
R5541:Pdia4 UTSW 6 47796637 missense probably damaging 1.00
R5769:Pdia4 UTSW 6 47815512 unclassified probably benign
R5873:Pdia4 UTSW 6 47808176 missense probably damaging 1.00
R6340:Pdia4 UTSW 6 47801018 missense probably benign 0.43
R7231:Pdia4 UTSW 6 47800957 missense probably benign
R7791:Pdia4 UTSW 6 47807122 missense probably damaging 1.00
RF033:Pdia4 UTSW 6 47808288 small deletion probably benign
RF042:Pdia4 UTSW 6 47808306 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 On2019-06-26