Incidental Mutation 'R0468:Pdia5'
ID41770
Institutional Source Beutler Lab
Gene Symbol Pdia5
Ensembl Gene ENSMUSG00000022844
Gene Nameprotein disulfide isomerase associated 5
SynonymsPdir, 2700053F16Rik
MMRRC Submission 038668-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.235) question?
Stock #R0468 (G1)
Quality Score201
Status Validated
Chromosome16
Chromosomal Location35397312-35490873 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35397507 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 502 (L502P)
Ref Sequence ENSEMBL: ENSMUSP00000023550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023550]
Predicted Effect probably damaging
Transcript: ENSMUST00000023550
AA Change: L502P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023550
Gene: ENSMUSG00000022844
AA Change: L502P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PDB:4I6X|A 27 148 3e-77 PDB
Pfam:Thioredoxin 151 257 3.8e-21 PFAM
Pfam:Thioredoxin 275 380 6.2e-26 PFAM
Pfam:Thioredoxin_7 277 366 4.8e-9 PFAM
Pfam:Thioredoxin_2 288 377 7e-10 PFAM
Pfam:AhpC-TSA 396 494 1.1e-6 PFAM
Pfam:Thioredoxin 396 502 1.3e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231779
Meta Mutation Damage Score 0.5141 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (61/61)
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, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,193,310 H1298R possibly damaging Het
5530400C23Rik T C 6: 133,294,458 L155P probably benign Het
6820408C15Rik A T 2: 152,441,266 R283S probably benign Het
Aldh1l2 T A 10: 83,518,678 E104D probably benign Het
Anxa3 T C 5: 96,811,099 V22A probably benign Het
Bcl7b T C 5: 135,180,883 F188L probably benign Het
Brinp1 T A 4: 68,762,776 I506F probably damaging Het
Bsdc1 T C 4: 129,461,718 probably benign Het
Ccdc180 T C 4: 45,923,271 I1075T possibly damaging Het
Cep162 A G 9: 87,193,697 L1294P probably damaging Het
Cltc G A 11: 86,704,626 probably benign Het
Col11a1 T C 3: 114,217,058 probably benign Het
Col14a1 A T 15: 55,388,646 Y566F unknown Het
Dhx29 A G 13: 112,963,277 Q1148R probably benign Het
Ehbp1 A G 11: 22,169,184 probably benign Het
Ehd3 A G 17: 73,805,379 H46R probably damaging Het
Fam171a1 T C 2: 3,225,396 V522A probably benign Het
Gm4553 C A 7: 142,165,625 C22F unknown Het
Hibadh C T 6: 52,557,770 probably benign Het
Hspg2 G A 4: 137,533,529 C1613Y probably damaging Het
Hydin G T 8: 110,413,223 C708F possibly damaging Het
Ifi208 A T 1: 173,683,481 M401L probably benign Het
Igsf8 G A 1: 172,318,796 V454M probably damaging Het
Irx4 G T 13: 73,266,720 probably benign Het
Kcnh4 C T 11: 100,746,932 G633E probably benign Het
Kcnn2 C T 18: 45,559,471 T38M possibly damaging Het
L3mbtl3 C T 10: 26,327,732 R400H unknown Het
Lrp6 T C 6: 134,485,661 T679A possibly damaging Het
Map9 T C 3: 82,374,203 probably null Het
Men1 T A 19: 6,336,923 V5E probably null Het
Mettl14 T C 3: 123,371,412 D93G probably damaging Het
Neb G T 2: 52,211,556 R4601S probably damaging Het
Nell1 A G 7: 50,228,846 T272A probably damaging Het
Olfr1115 A T 2: 87,252,255 N106I probably benign Het
Olfr319 A T 11: 58,701,793 I31F probably damaging Het
Pclo C A 5: 14,677,288 probably benign Het
Pkd1l3 C G 8: 109,623,649 D375E possibly damaging Het
Plxna4 C A 6: 32,215,246 C803F probably damaging Het
Pmfbp1 A G 8: 109,513,968 probably null Het
Ptgs1 A G 2: 36,249,193 Y468C probably damaging Het
Pxdn G T 12: 29,994,486 G488W probably damaging Het
Safb C T 17: 56,606,025 R914C probably damaging Het
Sec31b T A 19: 44,518,508 probably benign Het
Shank3 G A 15: 89,549,275 V1333I probably benign Het
Slamf1 A G 1: 171,792,371 probably benign Het
Slc23a3 T A 1: 75,133,230 Q131L possibly damaging Het
Slc7a11 A G 3: 50,384,051 V303A probably damaging Het
Slc7a13 T A 4: 19,841,500 V449D probably benign Het
Srp68 A T 11: 116,248,764 I453K probably damaging Het
Steap3 A T 1: 120,234,300 V414D probably damaging Het
Tagln2 A G 1: 172,506,221 N131D probably benign Het
Tmem132d T C 5: 128,269,203 Y85C probably damaging Het
Vcam1 A T 3: 116,115,946 Y577* probably null Het
Vmn1r214 A G 13: 23,035,253 T306A probably benign Het
Zfyve1 A T 12: 83,555,274 probably benign Het
Zgrf1 T A 3: 127,562,041 N305K possibly damaging Het
Other mutations in Pdia5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0334:Pdia5 UTSW 16 35464390 missense possibly damaging 0.81
R4734:Pdia5 UTSW 16 35456513 missense probably benign 0.00
R4898:Pdia5 UTSW 16 35410416 missense possibly damaging 0.58
R5241:Pdia5 UTSW 16 35429775 missense probably benign 0.00
R5410:Pdia5 UTSW 16 35453536 missense probably damaging 0.99
R5581:Pdia5 UTSW 16 35449442 missense probably benign 0.22
R5811:Pdia5 UTSW 16 35449420 missense possibly damaging 0.48
R5898:Pdia5 UTSW 16 35422965 missense probably damaging 1.00
R6047:Pdia5 UTSW 16 35397478 missense probably damaging 1.00
R6278:Pdia5 UTSW 16 35429923 missense possibly damaging 0.78
R7089:Pdia5 UTSW 16 35407679 missense probably benign
R7308:Pdia5 UTSW 16 35456509 missense probably damaging 1.00
R7385:Pdia5 UTSW 16 35429914 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTCGTGAAAACATACTCTACCACTGAA -3'
(R):5'- TGCCATAGCCAGTAGTGTCTCCC -3'

Sequencing Primer
(F):5'- AACATACTCTACCACTGAATAAATGG -3'
(R):5'- cctcctctgacaccccc -3'
Posted On2013-05-23