Incidental Mutation 'R5811:Pdia5'
ID 447530
Institutional Source Beutler Lab
Gene Symbol Pdia5
Ensembl Gene ENSMUSG00000022844
Gene Name protein disulfide isomerase associated 5
Synonyms Pdir, 2700053F16Rik
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 35217682-35311243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35269790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 173 (M173K)
Ref Sequence ENSEMBL: ENSMUSP00000023550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023550]
AlphaFold Q921X9
Predicted Effect possibly damaging
Transcript: ENSMUST00000023550
AA Change: M173K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023550
Gene: ENSMUSG00000022844
AA Change: M173K

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: ENSMUST00000231595
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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, 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dct A G 14: 118,250,600 (GRCm39) V466A probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging 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
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
R9306:Pdia5 UTSW 16 35,250,353 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCCTATAGTGTTCAGGGTGGAC -3'
(R):5'- TGACTGGGTCTCACGTGAATTC -3'

Sequencing Primer
(F):5'- CTGCCAATTCCAGTGGAGAG -3'
(R):5'- CTCACGTGAATTCTGAAGTGTACACC -3'
Posted On 2016-12-15