Incidental Mutation 'R7729:Pdia3'
ID 595682
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
MMRRC Submission 045785-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7729 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 121244383-121269168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121262838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 268 (D268G)
Ref Sequence ENSEMBL: ENSMUSP00000028683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028683] [ENSMUST00000135079]
AlphaFold P27773
Predicted Effect possibly damaging
Transcript: ENSMUST00000028683
AA Change: D268G

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248
AA Change: D268G

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 probably benign
Transcript: ENSMUST00000135079
SMART Domains Protein: ENSMUSP00000119337
Gene: ENSMUSG00000027248

DomainStartEndE-ValueType
Pfam:Thioredoxin 3 105 5.1e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T G 2: 127,028,710 (GRCm39) D163A possibly damaging Het
Abce1 A T 8: 80,414,537 (GRCm39) I454N probably damaging Het
Acaca A G 11: 84,262,339 (GRCm39) I1980M probably damaging Het
Adgrb2 C T 4: 129,885,917 (GRCm39) T19M probably benign Het
Agmo T A 12: 37,464,974 (GRCm39) S417T probably benign Het
Akap8l T C 17: 32,552,068 (GRCm39) E403G probably damaging Het
Art5 C T 7: 101,747,711 (GRCm39) A23T possibly damaging Het
Atg9a T C 1: 75,161,204 (GRCm39) T681A probably benign Het
Atp11b A G 3: 35,832,256 (GRCm39) Q37R probably damaging Het
Atp2a2 T C 5: 122,629,829 (GRCm39) E80G probably benign Het
AW551984 G A 9: 39,511,071 (GRCm39) P172L possibly damaging Het
Bace1 C T 9: 45,769,743 (GRCm39) R296C probably damaging Het
Ccser1 T A 6: 61,288,840 (GRCm39) H334Q probably benign Het
Chtf18 C T 17: 25,942,491 (GRCm39) R449H probably damaging Het
Cit A G 5: 116,122,881 (GRCm39) H1384R possibly damaging Het
Cltc A G 11: 86,612,474 (GRCm39) I524T probably benign Het
Dctn1 T A 6: 83,160,042 (GRCm39) I94N probably damaging Het
Dnhd1 A T 7: 105,354,472 (GRCm39) D3078V probably damaging Het
Dock7 G A 4: 98,943,683 (GRCm39) P520S Het
Epb41l4a C A 18: 33,987,326 (GRCm39) K350N probably damaging Het
Eprs1 T A 1: 185,145,366 (GRCm39) Y1130N probably damaging Het
Fcgrt T C 7: 44,744,797 (GRCm39) T224A probably damaging Het
Flt1 T A 5: 147,637,177 (GRCm39) T39S probably benign Het
Fxyd1 T C 7: 30,752,896 (GRCm39) Y33C probably damaging Het
Gab2 T A 7: 96,950,633 (GRCm39) V442E probably damaging Het
Ganab A G 19: 8,892,076 (GRCm39) D800G probably benign Het
Gata4 C A 14: 63,478,186 (GRCm39) A138S probably benign Het
Golga4 A G 9: 118,385,131 (GRCm39) H751R possibly damaging Het
H1f6 A G 13: 23,880,455 (GRCm39) R203G possibly damaging Het
Htra4 A G 8: 25,527,093 (GRCm39) V234A possibly damaging Het
Igkv4-74 A T 6: 69,161,954 (GRCm39) Y72N probably damaging Het
Iqsec3 T C 6: 121,360,940 (GRCm39) K973E probably damaging Het
Khdc1b C A 1: 21,455,065 (GRCm39) T108K probably benign Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Kyat3 A G 3: 142,432,066 (GRCm39) probably null Het
Lrba T A 3: 86,225,474 (GRCm39) V666E probably damaging Het
Mettl25 T A 10: 105,601,871 (GRCm39) Y528F probably benign Het
Mms19 A T 19: 41,940,904 (GRCm39) Y619* probably null Het
Nlrp12 A C 7: 3,277,020 (GRCm39) probably null Het
Nol10 C T 12: 17,474,676 (GRCm39) L623F possibly damaging Het
Oas1g A G 5: 121,024,063 (GRCm39) F82S probably damaging Het
Or1j8 T G 2: 36,191,772 (GRCm39) S74A probably benign Het
Or5k3 C T 16: 58,969,570 (GRCm39) A119V probably damaging Het
Or8g18 G A 9: 39,149,546 (GRCm39) P58L probably benign Het
Oxr1 G A 15: 41,686,863 (GRCm39) E582K probably damaging Het
Pramel13 T C 4: 144,119,434 (GRCm39) S378G probably damaging Het
Rcor3 A G 1: 191,786,078 (GRCm39) Y387H probably damaging Het
Rigi T A 4: 40,206,034 (GRCm39) I853F possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Rsl1 T C 13: 67,330,284 (GRCm39) L244P possibly damaging Het
Scn5a G T 9: 119,324,606 (GRCm39) N1407K probably damaging Het
Sdcbp C T 4: 6,378,985 (GRCm39) A24V probably benign Het
Slc22a8 A G 19: 8,571,323 (GRCm39) Y18C possibly damaging Het
Slc35d1 C T 4: 103,072,044 (GRCm39) R7H probably damaging Het
Slco6d1 A T 1: 98,425,248 (GRCm39) T599S probably damaging Het
Spata31d1e C T 13: 59,889,437 (GRCm39) M794I not run Het
St18 T A 1: 6,872,761 (GRCm39) H165Q probably benign Het
Sub1 C T 15: 11,986,589 (GRCm39) R86K probably damaging Het
Tectb G A 19: 55,181,104 (GRCm39) V148M Het
Tgfb2 C A 1: 186,362,954 (GRCm39) G290V possibly damaging Het
Tgm7 T C 2: 120,924,191 (GRCm39) H577R probably benign Het
Tle2 T C 10: 81,422,981 (GRCm39) S460P probably damaging Het
Tmem221 C A 8: 72,011,446 (GRCm39) R3L possibly damaging Het
Tnfrsf19 C A 14: 61,212,183 (GRCm39) V156L possibly damaging Het
Trav6-5 A G 14: 53,728,964 (GRCm39) K75E probably benign Het
Trip10 G A 17: 57,569,442 (GRCm39) G488S probably damaging Het
Usp34 A C 11: 23,399,268 (GRCm39) K2419T Het
Vps13d T C 4: 144,801,622 (GRCm39) Q3532R Het
Vps4a A T 8: 107,767,529 (GRCm39) I163L probably damaging Het
Wrn T C 8: 33,814,454 (GRCm39) H330R probably benign Het
Xpr1 T C 1: 155,188,618 (GRCm39) I341V probably benign Het
Zfyve9 T C 4: 108,548,973 (GRCm39) E105G probably benign 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
IGL02988:Pdia3 UTSW 2 121,260,037 (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
X0012:Pdia3 UTSW 2 121,266,426 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GGACCCATTACCTCTTACAGTG -3'
(R):5'- CATGGCTGGTGAGATGACTC -3'

Sequencing Primer
(F):5'- GCATTGTGTTGATAATGACTTCCTC -3'
(R):5'- ACAAACCCAGGGCTTTTGTG -3'
Posted On 2019-11-12