Incidental Mutation 'R1635:Pdia4'
ID 173062
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 # R1635 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 47773075-47790364 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47776133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 421 (F421L)
Ref Sequence ENSEMBL: ENSMUSP00000076521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077290]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000077290
AA Change: F421L

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000076521
Gene: ENSMUSG00000025823
AA Change: F421L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.9%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A T 2: 25,334,868 (GRCm39) I1947F probably benign Het
Adgrd1 G T 5: 129,205,971 (GRCm39) V182F probably damaging Het
Agmat A G 4: 141,474,380 (GRCm39) D87G probably damaging Het
AI182371 T C 2: 34,978,749 (GRCm39) probably null Het
Anapc1 G T 2: 128,470,452 (GRCm39) H1559Q probably damaging Het
Ankar T C 1: 72,689,297 (GRCm39) Y1278C probably damaging Het
Arhgef2 A T 3: 88,546,628 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Banp A T 8: 122,727,750 (GRCm39) I130F probably damaging Het
C130050O18Rik G T 5: 139,400,248 (GRCm39) R100S probably benign Het
Carmil3 A G 14: 55,733,739 (GRCm39) T374A possibly damaging Het
Cc2d2a T A 5: 43,879,812 (GRCm39) W1076R probably damaging Het
Cdc34 T G 10: 79,523,888 (GRCm39) S235A probably benign Het
Cdh8 G T 8: 99,757,656 (GRCm39) H647Q probably damaging Het
Cdk1 A T 10: 69,174,377 (GRCm39) L282Q probably damaging Het
Ceacam3 A G 7: 16,893,902 (GRCm39) D471G probably damaging Het
Ciao2b A T 8: 105,367,620 (GRCm39) I108N possibly damaging Het
Cltc A T 11: 86,648,105 (GRCm39) I4N probably benign Het
Cntfr T A 4: 41,658,816 (GRCm39) E305V probably damaging Het
Cwh43 T A 5: 73,591,653 (GRCm39) I496N probably damaging Het
Cyp2f2 A G 7: 26,829,149 (GRCm39) N218S probably benign Het
D16Ertd472e A G 16: 78,343,392 (GRCm39) probably null Het
Dab2 A G 15: 6,459,351 (GRCm39) Q400R possibly damaging Het
Dapl1 A T 2: 59,326,906 (GRCm39) I51F probably benign Het
Drc7 G A 8: 95,800,960 (GRCm39) probably null Het
Etl4 A G 2: 20,811,219 (GRCm39) T1101A probably damaging Het
Fam83c C A 2: 155,671,971 (GRCm39) R488M possibly damaging Het
Fbxo42 A G 4: 140,927,840 (GRCm39) T707A probably damaging Het
Fcmr A T 1: 130,803,922 (GRCm39) probably null Het
Fer1l6 G C 15: 58,518,930 (GRCm39) K1687N probably damaging Het
Fgd4 G A 16: 16,292,893 (GRCm39) R275* probably null Het
Fxr2 G A 11: 69,532,139 (GRCm39) C87Y possibly damaging Het
Gja4 A T 4: 127,206,472 (GRCm39) I97N probably damaging Het
Gm136 A G 4: 34,750,919 (GRCm39) probably null Het
Gm14496 A G 2: 181,642,837 (GRCm39) D836G possibly damaging Het
Grm3 T A 5: 9,561,520 (GRCm39) T777S probably damaging Het
Guca2b A G 4: 119,514,912 (GRCm39) Y50H probably damaging Het
Herc2 C T 7: 55,786,415 (GRCm39) P1587S probably benign Het
Hmcn1 C T 1: 150,545,309 (GRCm39) S2766N probably benign Het
Idi2 T A 13: 9,009,455 (GRCm39) I224K probably damaging Het
Kmt2a A T 9: 44,735,666 (GRCm39) probably benign Het
Lonp2 A T 8: 87,440,078 (GRCm39) M693L possibly damaging Het
Megf8 G T 7: 25,046,172 (GRCm39) M1525I possibly damaging Het
Mgme1 T C 2: 144,121,018 (GRCm39) V276A possibly damaging Het
Mief2 G T 11: 60,622,234 (GRCm39) W268L probably damaging Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Mreg T C 1: 72,231,356 (GRCm39) N34S probably benign Het
Myf6 T C 10: 107,330,534 (GRCm39) Y11C probably damaging Het
Myh9 C A 15: 77,655,367 (GRCm39) Q1196H probably benign Het
Myh9 A T 15: 77,660,099 (GRCm39) D56E probably benign Het
Myo5c A T 9: 75,184,357 (GRCm39) R949S probably benign Het
Ncapg2 TAA TA 12: 116,398,305 (GRCm39) probably null Het
Nfx1 T A 4: 40,977,004 (GRCm39) V226E probably benign Het
Nlrp10 T A 7: 108,523,737 (GRCm39) K581M possibly damaging Het
Nmd3 T G 3: 69,647,317 (GRCm39) I273S probably benign Het
Or4c3 A T 2: 89,852,314 (GRCm39) I32N possibly damaging Het
P4hb T C 11: 120,462,442 (GRCm39) E88G probably damaging Het
Pcnx3 A T 19: 5,715,773 (GRCm39) H1444Q probably benign Het
Picalm T A 7: 89,840,459 (GRCm39) S538T probably damaging Het
Ppp2r2b T A 18: 43,192,275 (GRCm39) I11F probably benign Het
Prb1c A G 6: 132,339,969 (GRCm39) probably null Het
Ptk7 C T 17: 46,884,460 (GRCm39) E757K possibly damaging Het
Rbm22 T G 18: 60,694,340 (GRCm39) C24W probably damaging Het
Rev3l A G 10: 39,682,658 (GRCm39) D288G probably damaging Het
Rgs18 T A 1: 144,629,791 (GRCm39) H156L probably benign Het
Rnf213 A G 11: 119,333,405 (GRCm39) I2871M probably damaging Het
Rrm2b A T 15: 37,945,328 (GRCm39) M137K probably damaging Het
Rrp12 A T 19: 41,857,224 (GRCm39) D1183E probably benign Het
Sacs G A 14: 61,441,277 (GRCm39) V1108M probably damaging Het
Scube2 A T 7: 109,442,421 (GRCm39) D270E possibly damaging Het
Serpina3a T A 12: 104,082,737 (GRCm39) F170Y probably damaging Het
Serpinb3b T C 1: 107,082,403 (GRCm39) E287G probably benign Het
Slamf8 C T 1: 172,412,186 (GRCm39) V130M probably damaging Het
Slc5a3 T C 16: 91,874,284 (GRCm39) S114P possibly damaging Het
Sos1 T A 17: 80,730,108 (GRCm39) probably null Het
Sox10 A T 15: 79,040,660 (GRCm39) D293E probably damaging Het
Sphk1 A G 11: 116,426,596 (GRCm39) D177G probably damaging Het
Sphkap T G 1: 83,256,121 (GRCm39) M543L probably benign Het
Syt13 A T 2: 92,783,760 (GRCm39) K343N probably damaging Het
Tatdn3 A G 1: 190,792,373 (GRCm39) M34T probably benign Het
Timd4 T G 11: 46,732,989 (GRCm39) V305G possibly damaging Het
Tnnc2 T C 2: 164,619,512 (GRCm39) I111V probably benign Het
Togaram2 C T 17: 72,004,846 (GRCm39) P301L probably benign Het
Trpc3 T C 3: 36,694,776 (GRCm39) N726S probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ugt1a5 T A 1: 88,093,805 (GRCm39) probably benign Het
Ulk3 A T 9: 57,500,443 (GRCm39) probably null Het
Unc5d T A 8: 29,250,777 (GRCm39) I297L probably benign Het
Usp20 A G 2: 30,908,830 (GRCm39) I804V probably benign Het
Usp22 G T 11: 61,052,144 (GRCm39) C278* probably null Het
Usp53 A T 3: 122,727,872 (GRCm39) N903K probably benign Het
V1rd19 T C 7: 23,702,812 (GRCm39) F93L probably benign Het
Zdbf2 T A 1: 63,343,493 (GRCm39) V624E possibly damaging Het
Zfyve16 A T 13: 92,645,528 (GRCm39) S1073T probably damaging Het
Zkscan8 T C 13: 21,710,765 (GRCm39) H115R possibly 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
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
Predicted Primers PCR Primer
(F):5'- CCTCAGGATTGGCACTGTTTTCACC -3'
(R):5'- GCTCACACAAACATCTGTGCTTGAC -3'

Sequencing Primer
(F):5'- ACCTGTTGAGCCAACTCTTTAG -3'
(R):5'- ACATCTGTGCTTGACAGTGAC -3'
Posted On 2014-04-24