Incidental Mutation 'R1951:Pdia4'
ID 217285
Institutional Source Beutler Lab
Gene Symbol Pdia4
Ensembl Gene ENSMUSG00000025823
Gene Name protein disulfide isomerase associated 4
Synonyms Cai, ERp72, Erp72, U48620
MMRRC Submission 039965-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1951 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 47773075-47790364 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47780813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 212 (Y212H)
Ref Sequence ENSEMBL: ENSMUSP00000076521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077290]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000077290
AA Change: Y212H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: Y212H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204029
Meta Mutation Damage Score 0.7527 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 98% (84/86)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,960,655 (GRCm39) R706C probably damaging Het
Adcy3 T C 12: 4,258,624 (GRCm39) F847S probably benign Het
Alyref C G 11: 120,486,758 (GRCm39) V168L probably damaging Het
Arhgap28 G A 17: 68,208,336 (GRCm39) A44V probably benign Het
Asap3 C T 4: 135,954,767 (GRCm39) R60* probably null Het
Baz1b T A 5: 135,245,593 (GRCm39) N347K probably benign Het
Best2 T A 8: 85,737,858 (GRCm39) N179I possibly damaging Het
Bfar C T 16: 13,519,970 (GRCm39) S276L probably damaging Het
Bloc1s3 A G 7: 19,241,483 (GRCm39) V15A possibly damaging Het
Borcs5 A G 6: 134,687,230 (GRCm39) H196R unknown Het
Calhm3 A G 19: 47,140,256 (GRCm39) L279P probably benign Het
Cand1 A T 10: 119,043,925 (GRCm39) probably benign Het
Car15 T C 16: 17,655,269 (GRCm39) D57G possibly damaging Het
Casp12 G A 9: 5,348,959 (GRCm39) probably null Het
Cd93 T C 2: 148,283,778 (GRCm39) T523A probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Ckap5 A G 2: 91,386,837 (GRCm39) probably benign Het
Col6a5 G A 9: 105,814,156 (GRCm39) R619W unknown Het
Colec12 G A 18: 9,859,975 (GRCm39) probably null Het
Crmp1 G A 5: 37,430,699 (GRCm39) V222I possibly damaging Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Ctbp2 A G 7: 132,616,756 (GRCm39) S60P probably benign Het
Cyp2c68 T C 19: 39,700,972 (GRCm39) Y282C probably benign Het
Dhx36 T C 3: 62,391,694 (GRCm39) I551V probably damaging Het
Dlg5 T A 14: 24,206,537 (GRCm39) probably benign Het
Dlgap1 A T 17: 71,068,306 (GRCm39) I300F probably damaging Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dnah6 T A 6: 73,061,704 (GRCm39) R2794* probably null Het
Fcgr1 G A 3: 96,194,386 (GRCm39) T167I probably damaging Het
Fgl1 G T 8: 41,650,387 (GRCm39) F187L probably benign Het
Fras1 T A 5: 96,860,242 (GRCm39) V2096E probably benign Het
Gm10647 A G 9: 66,705,762 (GRCm39) probably benign Het
Gm14226 G A 2: 154,866,255 (GRCm39) D71N possibly damaging Het
Grip2 A T 6: 91,760,829 (GRCm39) I284N probably damaging Het
Hirip3 A G 7: 126,462,038 (GRCm39) R19G probably damaging Het
Ift70b A G 2: 75,767,586 (GRCm39) L389P probably damaging Het
Irx5 A G 8: 93,086,438 (GRCm39) N174D probably damaging Het
Itgal A G 7: 126,929,317 (GRCm39) D1078G probably damaging Het
Khdc3 T C 9: 73,010,519 (GRCm39) V123A possibly damaging Het
Klhl13 A G X: 23,127,820 (GRCm39) probably benign Het
Klhl42 T C 6: 146,993,321 (GRCm39) S98P probably damaging Het
Lrp5 T C 19: 3,670,298 (GRCm39) N602S possibly damaging Het
Lrrd1 A T 5: 3,901,488 (GRCm39) I598F probably damaging Het
Ltbp1 A G 17: 75,458,372 (GRCm39) T318A probably benign Het
Mfsd6 A G 1: 52,748,517 (GRCm39) F116S probably damaging Het
Ncam1 T C 9: 49,456,492 (GRCm39) I486V probably benign Het
Nptx1 A G 11: 119,434,006 (GRCm39) probably null Het
Nrg1 T C 8: 32,408,221 (GRCm39) Y4C probably damaging Het
Nsf G A 11: 103,773,702 (GRCm39) R271* probably null Het
Or5d39 A G 2: 87,979,641 (GRCm39) S241P possibly damaging Het
Or8g24 T A 9: 38,989,580 (GRCm39) I154F probably benign Het
Or8k18 G C 2: 86,085,440 (GRCm39) T199S probably benign Het
Or8k21 T A 2: 86,145,504 (GRCm39) N42I probably damaging Het
Or8k24 A T 2: 86,215,855 (GRCm39) H302Q probably benign Het
Pax2 A G 19: 44,777,271 (GRCm39) T155A probably benign Het
Pgr A G 9: 8,946,954 (GRCm39) probably benign Het
Pitpnm3 G T 11: 71,965,450 (GRCm39) H112N possibly damaging Het
Ppargc1b G T 18: 61,431,848 (GRCm39) T1000K possibly damaging Het
Psd3 C A 8: 68,416,139 (GRCm39) C586F probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Rabep2 A T 7: 126,037,736 (GRCm39) R169S possibly damaging Het
Rad21l T C 2: 151,497,179 (GRCm39) R309G probably benign Het
Rbm12 T C 2: 155,939,133 (GRCm39) R380G probably damaging Het
Selp A G 1: 163,954,081 (GRCm39) N127S probably benign Het
Slc12a2 A G 18: 58,012,467 (GRCm39) T197A possibly damaging Het
Slc22a18 C T 7: 143,029,984 (GRCm39) T17I probably damaging Het
Sptbn4 T C 7: 27,065,868 (GRCm39) E2026G possibly damaging Het
Srf A T 17: 46,862,633 (GRCm39) M285K possibly damaging Het
Tanc1 T C 2: 59,622,156 (GRCm39) V425A possibly damaging Het
Tle4 A T 19: 14,493,721 (GRCm39) probably null Het
Tmem132e A G 11: 82,335,908 (GRCm39) R905G possibly damaging Het
Tmem200c A T 17: 69,147,983 (GRCm39) I189F probably damaging Het
Trappc13 T C 13: 104,311,150 (GRCm39) Q87R probably benign Het
Trpm7 A T 2: 126,673,219 (GRCm39) D511E probably damaging Het
Ttn A T 2: 76,632,634 (GRCm39) I14140N possibly damaging Het
Virma A G 4: 11,513,907 (GRCm39) D587G probably benign Het
Vmn1r72 A G 7: 11,403,731 (GRCm39) L239P probably damaging Het
Vmn2r68 A G 7: 84,883,102 (GRCm39) F217L probably damaging Het
Vps13c T C 9: 67,881,041 (GRCm39) probably null Het
Vrtn T C 12: 84,695,973 (GRCm39) V241A probably damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zranb3 A T 1: 127,927,136 (GRCm39) V343D probably damaging Het
Other mutations in Pdia4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCTCGTGGGCCATTGTAGTC -3'
(R):5'- GCCAACGACAAGAGTCTCATG -3'

Sequencing Primer
(F):5'- GCCATTGTAGTCAAAAGGCCTTC -3'
(R):5'- CCAACAATTTAGTGTGCCTGTG -3'
Posted On 2014-08-01