Incidental Mutation 'R9306:Pdia5'
ID 705237
Institutional Source Beutler Lab
Gene Symbol Pdia5
Ensembl Gene ENSMUSG00000022844
Gene Name protein disulfide isomerase associated 5
Synonyms Pdir, 2700053F16Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R9306 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 35217682-35311243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35250353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 202 (V202D)
Ref Sequence ENSEMBL: ENSMUSP00000023550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023550]
AlphaFold Q921X9
Predicted Effect probably damaging
Transcript: ENSMUST00000023550
AA Change: V202D

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023550
Gene: ENSMUSG00000022844
AA Change: V202D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (43/43)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam18 G A 8: 25,136,420 (GRCm39) S367L possibly damaging Het
Alox12b A T 11: 69,060,396 (GRCm39) I651F possibly damaging Het
Arfgef2 A G 2: 166,723,188 (GRCm39) K1543E probably benign Het
Arhgap24 A G 5: 102,994,008 (GRCm39) I30V possibly damaging Het
Atad2 A T 15: 57,959,994 (GRCm39) Y1343* probably null Het
Clca3a1 A G 3: 144,730,339 (GRCm39) Y169H probably damaging Het
Cspg4b A G 13: 113,506,010 (GRCm39) T2380A unknown Het
Eno1b G A 18: 48,180,922 (GRCm39) V367I probably benign Het
Fbh1 T C 2: 11,772,387 (GRCm39) E98G probably benign Het
Fbxw14 A T 9: 109,100,280 (GRCm39) M458K probably benign Het
Galnt13 A T 2: 54,823,569 (GRCm39) I382F probably benign Het
Hoxa10 T C 6: 52,209,635 (GRCm39) T368A possibly damaging Het
Ism2 C T 12: 87,333,826 (GRCm39) C73Y probably benign Het
Kif15 T C 9: 122,807,056 (GRCm39) V264A probably damaging Het
Lars1 T C 18: 42,358,884 (GRCm39) probably null Het
Lmtk2 T A 5: 144,119,599 (GRCm39) H1353Q probably benign Het
Lrp1b A T 2: 40,518,762 (GRCm39) C157S possibly damaging Het
Map3k7cl A G 16: 87,391,149 (GRCm39) D91G possibly damaging Het
Mapk8ip1 A T 2: 92,219,428 (GRCm39) D134E probably benign Het
Meaf6 A T 4: 124,996,766 (GRCm39) T159S unknown Het
Moxd1 A G 10: 24,128,824 (GRCm39) probably benign Het
Mup8 T A 4: 60,219,682 (GRCm39) E195V possibly damaging Het
Nox4 A T 7: 86,896,781 (GRCm39) Q48L probably benign Het
Or1j19 T A 2: 36,677,407 (GRCm39) I290N probably damaging Het
Or52d3 T A 7: 104,229,128 (GRCm39) W92R probably damaging Het
Or6c219 G A 10: 129,781,289 (GRCm39) S99F probably damaging Het
Otop3 G T 11: 115,237,248 (GRCm39) V571L probably benign Het
Oxr1 A G 15: 41,686,861 (GRCm39) H581R possibly damaging Het
Pappa2 A T 1: 158,764,492 (GRCm39) F340I probably damaging Het
Pcdh10 G A 3: 45,335,804 (GRCm39) G706D probably benign Het
Pdpn G A 4: 143,000,601 (GRCm39) T77M probably damaging Het
Phf11 T A 14: 59,482,294 (GRCm39) D153V probably damaging Het
Pira1 T A 7: 3,740,360 (GRCm39) Q287L probably benign Het
Ptprq T C 10: 107,422,599 (GRCm39) T1598A probably benign Het
Slc27a6 C T 18: 58,742,953 (GRCm39) T547I possibly damaging Het
Smoc1 G A 12: 81,214,430 (GRCm39) V282I possibly damaging Het
Sppl3 C A 5: 115,212,922 (GRCm39) N50K probably benign Het
Taar5 T C 10: 23,846,781 (GRCm39) S60P possibly damaging Het
Tgtp2 G T 11: 48,949,865 (GRCm39) Q236K probably benign Het
Timd5 A C 11: 46,419,519 (GRCm39) M112L probably benign Het
Vmn1r8 T A 6: 57,013,713 (GRCm39) W255R probably benign Het
Vmn2r11 C T 5: 109,196,831 (GRCm39) C547Y probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Vwa1 G A 4: 155,855,328 (GRCm39) P262S probably benign Het
Other mutations in Pdia5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0334:Pdia5 UTSW 16 35,284,760 (GRCm39) missense possibly damaging 0.81
R0468:Pdia5 UTSW 16 35,217,877 (GRCm39) missense probably damaging 1.00
R4734:Pdia5 UTSW 16 35,276,883 (GRCm39) missense probably benign 0.00
R4898:Pdia5 UTSW 16 35,230,786 (GRCm39) missense possibly damaging 0.58
R5241:Pdia5 UTSW 16 35,250,145 (GRCm39) missense probably benign 0.00
R5410:Pdia5 UTSW 16 35,273,906 (GRCm39) missense probably damaging 0.99
R5581:Pdia5 UTSW 16 35,269,812 (GRCm39) missense probably benign 0.22
R5811:Pdia5 UTSW 16 35,269,790 (GRCm39) missense possibly damaging 0.48
R5898:Pdia5 UTSW 16 35,243,335 (GRCm39) missense probably damaging 1.00
R6047:Pdia5 UTSW 16 35,217,848 (GRCm39) missense probably damaging 1.00
R6278:Pdia5 UTSW 16 35,250,293 (GRCm39) missense possibly damaging 0.78
R7089:Pdia5 UTSW 16 35,228,049 (GRCm39) missense probably benign
R7308:Pdia5 UTSW 16 35,276,879 (GRCm39) missense probably damaging 1.00
R7385:Pdia5 UTSW 16 35,250,284 (GRCm39) missense probably damaging 0.99
R8726:Pdia5 UTSW 16 35,269,784 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCACTCCACGATGTCCT -3'
(R):5'- CAGCTGTCTGGAGGGCAG -3'

Sequencing Primer
(F):5'- GTGGACCCATAGTTCTCATACGG -3'
(R):5'- GCCCTGGAACCCCCGATG -3'
Posted On 2022-03-25