Incidental Mutation 'R5581:Pdia5'
ID 438476
Institutional Source Beutler Lab
Gene Symbol Pdia5
Ensembl Gene ENSMUSG00000022844
Gene Name protein disulfide isomerase associated 5
Synonyms Pdir, 2700053F16Rik
MMRRC Submission 043135-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R5581 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 35217682-35311243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35269812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 166 (R166G)
Ref Sequence ENSEMBL: ENSMUSP00000023550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023550]
AlphaFold Q921X9
Predicted Effect probably benign
Transcript: ENSMUST00000023550
AA Change: R166G

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023550
Gene: ENSMUSG00000022844
AA Change: R166G

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appbp2 G C 11: 85,100,921 (GRCm39) R173G possibly damaging Het
Bcl11a A G 11: 24,113,932 (GRCm39) K425R probably damaging Het
Casr A G 16: 36,315,106 (GRCm39) M911T probably benign Het
Cdon C T 9: 35,415,377 (GRCm39) A1205V probably benign Het
Chfr T C 5: 110,301,148 (GRCm39) probably null Het
Dixdc1 A G 9: 50,580,780 (GRCm39) L638P probably damaging Het
Filip1 C T 9: 79,727,042 (GRCm39) V526M possibly damaging Het
Fsip2 T A 2: 82,828,472 (GRCm39) D6756E possibly damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Lvrn A G 18: 47,023,932 (GRCm39) T760A probably benign Het
Myh7 T A 14: 55,216,411 (GRCm39) M1256L probably benign Het
Ndufb11b T C 15: 81,865,037 (GRCm39) S93P probably damaging Het
Or8g17 T A 9: 38,929,998 (GRCm39) I280F probably damaging Het
Plcz1 A G 6: 139,968,851 (GRCm39) Y196H probably damaging Het
Ptpn12 T A 5: 21,220,724 (GRCm39) E135D probably damaging Het
Rnh1 T C 7: 140,743,294 (GRCm39) D191G probably benign Het
Slit1 A G 19: 41,605,102 (GRCm39) probably null Het
Syne2 T G 12: 75,991,859 (GRCm39) D1941E probably benign Het
Thsd4 C A 9: 59,879,741 (GRCm39) A639S possibly 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
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
R9306:Pdia5 UTSW 16 35,250,353 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCTATAGTGTTCAGGGTGGAC -3'
(R):5'- ATCTCCTGTTGGGCTGTGAC -3'

Sequencing Primer
(F):5'- CTGCCAATTCCAGTGGAGAG -3'
(R):5'- ACTGGGTCTCACGTGAATTC -3'
Posted On 2016-10-26