Incidental Mutation 'IGL02207:Pdia4'
ID 284520
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02207
Quality Score
Status
Chromosome 6
Chromosomal Location 47773075-47790364 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47773741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 536 (M536K)
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: M536K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: M536K

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,992,993 (GRCm39) E702G probably damaging Het
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Agap3 A T 5: 24,704,934 (GRCm39) T660S probably benign Het
Amotl2 A T 9: 102,601,896 (GRCm39) E380V probably damaging Het
Ap4e1 A G 2: 126,853,736 (GRCm39) E58G probably damaging Het
Arap3 G A 18: 38,120,906 (GRCm39) A713V probably benign Het
B4galt2 T C 4: 117,738,718 (GRCm39) D33G probably damaging Het
Bbs7 A T 3: 36,658,639 (GRCm39) S212T probably benign Het
Ccl26 A G 5: 135,592,224 (GRCm39) Y38H probably benign Het
Ccne2 A T 4: 11,202,261 (GRCm39) S339C probably benign Het
Cd55 A G 1: 130,380,156 (GRCm39) V274A possibly damaging Het
Cenpw T G 10: 30,074,577 (GRCm39) probably null Het
Cert1 T C 13: 96,761,300 (GRCm39) probably null Het
Chrnb4 T C 9: 54,942,500 (GRCm39) D258G probably damaging Het
Commd3 T C 2: 18,678,819 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b23 C A 7: 26,381,180 (GRCm39) R59L probably damaging Het
Edar G T 10: 58,446,343 (GRCm39) T194K probably damaging Het
Edem3 A G 1: 151,684,111 (GRCm39) I733V possibly damaging Het
Elmod2 T C 8: 84,048,135 (GRCm39) Y109C probably benign Het
Eps15 C T 4: 109,161,945 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,412 (GRCm39) V1937A probably benign Het
Fdx2 T A 9: 20,979,415 (GRCm39) probably null Het
Flg2 A T 3: 93,127,435 (GRCm39) I2116F unknown Het
Gm15091 A G X: 148,760,462 (GRCm39) D424G possibly damaging Het
Gm16380 T A 9: 53,791,823 (GRCm39) noncoding transcript Het
Gpn2 G A 4: 133,311,947 (GRCm39) V60M possibly damaging Het
Grip1 G A 10: 119,911,214 (GRCm39) R1044K probably damaging Het
H2-D1 T A 17: 35,482,390 (GRCm39) S37T possibly damaging Het
Havcr1 C T 11: 46,669,403 (GRCm39) A294V probably benign Het
Herc4 G A 10: 63,135,023 (GRCm39) probably null Het
Ift140 A G 17: 25,274,572 (GRCm39) Y748C probably benign Het
Il20ra A G 10: 19,627,326 (GRCm39) T242A probably damaging Het
Ilvbl G A 10: 78,419,536 (GRCm39) probably null Het
Kif18a A T 2: 109,127,052 (GRCm39) I329L probably damaging Het
Kmt2a T A 9: 44,758,979 (GRCm39) I957F probably damaging Het
Krt1 A G 15: 101,757,051 (GRCm39) I282T possibly damaging Het
Lamb1 T G 12: 31,379,434 (GRCm39) V1768G probably damaging Het
Nek9 A T 12: 85,350,257 (GRCm39) L939* probably null Het
Nfe2l2 A G 2: 75,508,869 (GRCm39) L122P probably damaging Het
Nin T C 12: 70,103,431 (GRCm39) M270V probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Nrde2 T C 12: 100,097,190 (GRCm39) Y870C probably benign Het
Nsmce2 A G 15: 59,287,927 (GRCm39) M71V probably benign Het
Ocstamp T C 2: 165,239,583 (GRCm39) H201R possibly damaging Het
Oog4 T C 4: 143,165,510 (GRCm39) I212M probably benign Het
Or11g2 G A 14: 50,856,015 (GRCm39) G112D probably damaging Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Osmr T C 15: 6,876,628 (GRCm39) T99A probably benign Het
Pdyn A T 2: 129,530,438 (GRCm39) L77H probably damaging Het
Pikfyve T C 1: 65,290,837 (GRCm39) probably null Het
Plcb1 A G 2: 135,229,091 (GRCm39) E1105G probably damaging Het
Rb1 A T 14: 73,443,525 (GRCm39) D743E probably damaging Het
Rdh14 G A 12: 10,444,712 (GRCm39) V188I possibly damaging Het
Scd3 T C 19: 44,204,028 (GRCm39) V72A possibly damaging Het
Shld1 A T 2: 132,533,866 (GRCm39) probably benign Het
Slc25a27 G A 17: 43,972,575 (GRCm39) R104W probably damaging Het
Slc29a4 A G 5: 142,704,640 (GRCm39) D394G possibly damaging Het
Slco1a8 A T 6: 141,936,158 (GRCm39) I309N possibly damaging Het
Snx29 T G 16: 11,556,216 (GRCm39) M407R probably damaging Het
Syf2 A G 4: 134,662,363 (GRCm39) probably null Het
Syn1 T C X: 20,731,376 (GRCm39) Q321R probably benign Het
Tbc1d12 A T 19: 38,905,091 (GRCm39) D602V probably damaging Het
Tenm4 A T 7: 96,523,323 (GRCm39) I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 (GRCm39) probably benign Het
Trav6-2 G A 14: 52,904,889 (GRCm39) V8M possibly damaging Het
Unc119b A G 5: 115,272,813 (GRCm39) S53P probably benign Het
Vmp1 T A 11: 86,498,019 (GRCm39) I299F possibly damaging Het
Xpot T C 10: 121,449,485 (GRCm39) Y194C probably damaging Het
Zbtb10 T A 3: 9,345,525 (GRCm39) probably null Het
Other mutations in Pdia4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01882:Pdia4 APN 6 47,780,412 (GRCm39) missense probably benign 0.25
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
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
Posted On 2015-04-16