Incidental Mutation 'IGL02988:Pdia3'
ID 453469
Institutional Source Beutler Lab
Gene Symbol Pdia3
Ensembl Gene ENSMUSG00000027248
Gene Name protein disulfide isomerase associated 3
Synonyms PDI-Q2, ERp57, ERp60, ERp61, Grp58, PDI, Plca, Erp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02988 (G1)
Quality Score 157
Status Validated
Chromosome 2
Chromosomal Location 121244383-121269168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121260037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 192 (L192Q)
Ref Sequence ENSEMBL: ENSMUSP00000028683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028683] [ENSMUST00000135079]
AlphaFold P27773
Predicted Effect probably damaging
Transcript: ENSMUST00000028683
AA Change: L192Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248
AA Change: L192Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Thioredoxin 26 131 5.2e-36 PFAM
Pfam:Thioredoxin_6 160 355 2e-29 PFAM
Pfam:Thioredoxin 377 483 9.5e-33 PFAM
low complexity region 487 503 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130450
Predicted Effect probably benign
Transcript: ENSMUST00000135079
SMART Domains Protein: ENSMUSP00000119337
Gene: ENSMUSG00000027248

DomainStartEndE-ValueType
Pfam:Thioredoxin 3 105 5.1e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153378
Meta Mutation Damage Score 0.8690 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (71/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele die by E13.5 with minor changes in ER calcium capacity and unfolded protein response in mouse embryonic fibroblasts. Mice homozygous for a gene trap allele die prior to birth while heterozygous mice exhibit abnormalbone volume bone morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Aadacl4fm5 T A 4: 144,513,100 (GRCm39) probably benign Het
Adgrd1 G A 5: 129,221,074 (GRCm39) A488T probably benign Het
Ano3 T C 2: 110,605,355 (GRCm39) S284G probably damaging Het
Aox1 G T 1: 58,376,509 (GRCm39) V897L probably benign Het
Arl6 T A 16: 59,434,209 (GRCm39) probably null Het
Blnk G A 19: 40,917,660 (GRCm39) T441M probably damaging Het
Casp8ap2 C T 4: 32,644,590 (GRCm39) T1221I probably benign Het
Cbll1 A T 12: 31,542,171 (GRCm39) F63L possibly damaging Het
Cdk14 A G 5: 5,086,484 (GRCm39) Y279H probably damaging Het
Cflar A T 1: 58,780,190 (GRCm39) I265F possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,897,272 (GRCm39) Y347* probably null Het
Defa27 T C 8: 21,805,583 (GRCm39) S8P probably damaging Het
Depdc5 A C 5: 33,113,511 (GRCm39) probably null Het
Dlg5 A G 14: 24,216,323 (GRCm39) F573S probably damaging Het
Fam20c A T 5: 138,741,749 (GRCm39) E120V probably benign Het
Fam53a T C 5: 33,764,819 (GRCm39) K296E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fndc1 T C 17: 7,972,355 (GRCm39) T1526A possibly damaging Het
Gm14325 A C 2: 177,476,042 (GRCm39) probably null Het
Gm7582 G A 1: 85,019,588 (GRCm39) noncoding transcript Het
Golga7b A C 19: 42,255,239 (GRCm39) Y63S probably damaging Het
Hexb A G 13: 97,334,729 (GRCm39) L14P unknown Het
Hsd17b3 A C 13: 64,236,914 (GRCm39) L10R probably damaging Het
Il6st T C 13: 112,635,420 (GRCm39) F611L probably damaging Het
Ints13 T A 6: 146,457,646 (GRCm39) T411S possibly damaging Het
Kif18b C A 11: 102,799,146 (GRCm39) C685F probably damaging Het
Kif5c A G 2: 49,509,729 (GRCm39) N19S probably damaging Het
Lmbr1 G T 5: 29,497,221 (GRCm39) probably null Het
Minar1 A G 9: 89,484,792 (GRCm39) S202P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrc2 G A 11: 105,216,397 (GRCm39) R62Q probably benign Het
Myo1g T C 11: 6,458,183 (GRCm39) probably benign Het
Myo5a A T 9: 75,037,423 (GRCm39) probably benign Het
Nobox G A 6: 43,282,095 (GRCm39) S326L possibly damaging Het
Nsl1 C A 1: 190,795,300 (GRCm39) S22* probably null Het
Or5b3 A C 19: 13,388,826 (GRCm39) K298Q possibly damaging Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Pkd2 A T 5: 104,651,471 (GRCm39) R940* probably null Het
Plcd3 T A 11: 102,967,568 (GRCm39) Q458L probably benign Het
Polm T A 11: 5,786,343 (GRCm39) T75S probably benign Het
Pon3 T A 6: 5,232,330 (GRCm39) D230V possibly damaging Het
Pxdn A T 12: 30,053,113 (GRCm39) K917* probably null Het
Rad54l2 A G 9: 106,577,784 (GRCm39) S1046P probably benign Het
Rb1cc1 T C 1: 6,318,035 (GRCm39) probably null Het
Rnf215 A G 11: 4,086,785 (GRCm39) E194G probably damaging Het
Rorb A T 19: 18,915,336 (GRCm39) F441I probably damaging Het
Sel1l2 C A 2: 140,090,508 (GRCm39) G378V probably damaging Het
Sema6a G T 18: 47,431,281 (GRCm39) A139D probably damaging Het
Serpinb3d A T 1: 107,006,266 (GRCm39) M274K probably benign Het
Siglec15 A C 18: 78,092,462 (GRCm39) L32R probably damaging Het
Siglecg A T 7: 43,067,476 (GRCm39) D681V probably damaging Het
Slc6a13 G T 6: 121,303,066 (GRCm39) probably benign Het
Slc9b2 G T 3: 135,024,179 (GRCm39) A77S probably benign Het
Slit3 T A 11: 35,598,890 (GRCm39) V1498D probably damaging Het
Snorc A G 1: 87,402,926 (GRCm39) probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Stxbp2 T C 8: 3,683,267 (GRCm39) probably benign Het
Tbc1d9b T C 11: 50,042,773 (GRCm39) S482P possibly damaging Het
Tec A G 5: 72,926,090 (GRCm39) S321P possibly damaging Het
Tenm3 A G 8: 48,688,381 (GRCm39) M2402T probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tm4sf1 A T 3: 57,200,537 (GRCm39) probably null Het
Tmcc1 T C 6: 116,019,889 (GRCm39) E306G probably damaging Het
Traf3ip3 A T 1: 192,877,182 (GRCm39) probably null Het
Utf1 C T 7: 139,523,875 (GRCm39) P30L possibly damaging Het
Wdfy3 A T 5: 102,077,847 (GRCm39) C880S probably damaging Het
Other mutations in Pdia3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Pdia3 APN 2 121,244,659 (GRCm39) missense probably damaging 1.00
IGL00777:Pdia3 APN 2 121,260,037 (GRCm39) missense probably damaging 1.00
IGL02020:Pdia3 APN 2 121,266,900 (GRCm39) splice site probably null
IGL02437:Pdia3 APN 2 121,264,129 (GRCm39) missense probably damaging 1.00
PIT4812001:Pdia3 UTSW 2 121,264,011 (GRCm39) missense probably damaging 1.00
R0242:Pdia3 UTSW 2 121,244,592 (GRCm39) missense probably damaging 1.00
R0242:Pdia3 UTSW 2 121,244,592 (GRCm39) missense probably damaging 1.00
R0606:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R0612:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R0658:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R0724:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R0730:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R0880:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R0882:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R1157:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R1160:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R1238:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R1619:Pdia3 UTSW 2 121,262,858 (GRCm39) missense probably damaging 1.00
R1853:Pdia3 UTSW 2 121,262,144 (GRCm39) missense probably benign 0.20
R1854:Pdia3 UTSW 2 121,262,144 (GRCm39) missense probably benign 0.20
R2014:Pdia3 UTSW 2 121,265,301 (GRCm39) missense probably damaging 1.00
R2103:Pdia3 UTSW 2 121,264,474 (GRCm39) missense probably damaging 1.00
R4160:Pdia3 UTSW 2 121,244,596 (GRCm39) missense probably damaging 1.00
R4628:Pdia3 UTSW 2 121,244,620 (GRCm39) missense possibly damaging 0.91
R5032:Pdia3 UTSW 2 121,244,620 (GRCm39) missense probably benign 0.28
R5279:Pdia3 UTSW 2 121,244,484 (GRCm39) unclassified probably benign
R5598:Pdia3 UTSW 2 121,244,611 (GRCm39) missense possibly damaging 0.53
R5815:Pdia3 UTSW 2 121,266,892 (GRCm39) nonsense probably null
R7162:Pdia3 UTSW 2 121,260,002 (GRCm39) missense probably benign 0.00
R7729:Pdia3 UTSW 2 121,262,838 (GRCm39) missense possibly damaging 0.77
X0012:Pdia3 UTSW 2 121,266,426 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- TATCCATGATAGACTGAAGGCTTTG -3'
(R):5'- AAGCCTTTTCTTGTGACATGC -3'

Sequencing Primer
(F):5'- CATGATAGACTGAAGGCTTTGAAAAC -3'
(R):5'- GGGTGCTTGAAACTAAATTCTGGTAC -3'
Posted On 2017-02-08