Incidental Mutation 'R1853:Pdia3'
ID 208299
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 039877-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1853 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 121244383-121269168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121262144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 205 (I205T)
Ref Sequence ENSEMBL: ENSMUSP00000028683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028683] [ENSMUST00000135079]
AlphaFold P27773
Predicted Effect probably benign
Transcript: ENSMUST00000028683
AA Change: I205T

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248
AA Change: I205T

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
AA Change: Y103H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119337
Gene: ENSMUSG00000027248
AA Change: Y103H

Pfam:Thioredoxin 3 105 5.1e-35 PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.2%
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl T C 11: 69,901,696 (GRCm39) K554E probably damaging Het
Acap2 C T 16: 30,936,122 (GRCm39) E322K probably damaging Het
Adam32 T C 8: 25,388,642 (GRCm39) Y354C probably benign Het
Agl A T 3: 116,572,971 (GRCm39) Y789* probably null Het
Aida A G 1: 183,087,380 (GRCm39) T68A probably benign Het
Aldh3b3 T A 19: 4,015,822 (GRCm39) L264Q probably damaging Het
Anks6 T C 4: 47,049,387 (GRCm39) T173A probably benign Het
Ankzf1 A G 1: 75,174,772 (GRCm39) probably null Het
Apob A T 12: 8,060,928 (GRCm39) K3137* probably null Het
Arhgef16 C T 4: 154,375,563 (GRCm39) V144I probably benign Het
Arhgef2 A T 3: 88,540,222 (GRCm39) T107S possibly damaging Het
Ark2c T A 18: 77,550,671 (GRCm39) S279C possibly damaging Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
Atp6ap1l T C 13: 91,031,707 (GRCm39) E325G probably damaging Het
BC035947 T C 1: 78,475,653 (GRCm39) N293S possibly damaging Het
Bhmt C T 13: 93,761,843 (GRCm39) V147M probably damaging Het
Ccdc112 A T 18: 46,418,767 (GRCm39) H447Q probably benign Het
Cd274 T A 19: 29,357,882 (GRCm39) N191K probably damaging Het
Ckmt1 C T 2: 121,191,131 (GRCm39) T181I probably damaging Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col28a1 T G 6: 8,014,574 (GRCm39) I944L probably benign Het
Cttnbp2 T C 6: 18,408,601 (GRCm39) T1007A probably benign Het
Cux2 G T 5: 122,007,184 (GRCm39) P826T possibly damaging Het
Cyren A G 6: 34,852,494 (GRCm39) V67A probably damaging Het
Dap3 A T 3: 88,838,233 (GRCm39) V86E probably damaging Het
Ddah1 A G 3: 145,597,304 (GRCm39) I180M probably benign Het
Ddt T C 10: 75,609,138 (GRCm39) E7G possibly damaging Het
Dhx57 A T 17: 80,582,308 (GRCm39) Y432* probably null Het
Dpp9 T C 17: 56,509,885 (GRCm39) I314V probably benign Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Ercc6 T A 14: 32,298,773 (GRCm39) I1387N possibly damaging Het
Fancg T C 4: 43,009,727 (GRCm39) E57G probably benign Het
Fcgbpl1 C T 7: 27,854,971 (GRCm39) Q1866* probably null Het
Fkbp5 A T 17: 28,648,281 (GRCm39) C103S possibly damaging Het
Gm14403 C A 2: 177,200,932 (GRCm39) H293N probably damaging Het
Gm4353 G A 7: 115,682,804 (GRCm39) P259L probably benign Het
Gm4787 T A 12: 81,425,108 (GRCm39) H350L probably damaging Het
Hibch T C 1: 52,940,494 (GRCm39) probably null Het
Impg2 T C 16: 56,080,640 (GRCm39) S815P probably damaging Het
Ipo11 A T 13: 106,997,395 (GRCm39) I688K probably benign Het
Kcnd3 A T 3: 105,367,068 (GRCm39) T313S probably damaging Het
Kctd14 A T 7: 97,102,631 (GRCm39) S38C possibly damaging Het
Kdm3b G T 18: 34,966,446 (GRCm39) R1660L probably damaging Het
Kdr C T 5: 76,113,565 (GRCm39) G768S possibly damaging Het
Klhl2 G A 8: 65,275,658 (GRCm39) H82Y probably benign Het
Lama3 A T 18: 12,646,762 (GRCm39) T1759S possibly damaging Het
Lamb1 T G 12: 31,368,271 (GRCm39) C1134G probably damaging Het
Macf1 T C 4: 123,406,513 (GRCm39) probably null Het
Mlph C T 1: 90,873,389 (GRCm39) Q567* probably null Het
Mocos A C 18: 24,829,026 (GRCm39) E777A probably damaging Het
Neil1 T A 9: 57,051,999 (GRCm39) Q214L probably damaging Het
Nes A G 3: 87,883,114 (GRCm39) T458A possibly damaging Het
Nlgn1 A T 3: 26,187,671 (GRCm39) N71K possibly damaging Het
Nr4a1 T C 15: 101,169,645 (GRCm39) I305T probably benign Het
Nup58 T C 14: 60,481,996 (GRCm39) T123A possibly damaging Het
Oas1c A T 5: 120,946,060 (GRCm39) V146E probably damaging Het
Oit3 C T 10: 59,277,444 (GRCm39) probably null Het
Or12k8 A T 2: 36,975,232 (GRCm39) F176Y probably damaging Het
Or4k15c A G 14: 50,321,577 (GRCm39) L187P probably damaging Het
Osbp T C 19: 11,951,255 (GRCm39) S267P possibly damaging Het
Pclo T A 5: 14,726,698 (GRCm39) probably benign Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pdia4 A T 6: 47,790,161 (GRCm39) D26E unknown Het
Pds5a A G 5: 65,781,372 (GRCm39) V1036A possibly damaging Het
Pitx3 C T 19: 46,125,912 (GRCm39) G4R probably benign Het
Pnn T A 12: 59,118,399 (GRCm39) N327K probably damaging Het
Pole T G 5: 110,454,719 (GRCm39) I984R possibly damaging Het
Psme2 T A 14: 55,825,936 (GRCm39) I124F probably damaging Het
Pstpip2 T A 18: 77,959,499 (GRCm39) L198Q probably damaging Het
Siglece A G 7: 43,309,360 (GRCm39) F66S probably benign Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Snd1 T A 6: 28,545,563 (GRCm39) I373N probably damaging Het
Srrm2 A G 17: 24,039,499 (GRCm39) T2144A probably damaging Het
Sst A G 16: 23,709,403 (GRCm39) L31P probably damaging Het
Stab1 C T 14: 30,862,420 (GRCm39) V2305M probably damaging Het
Stard9 T C 2: 120,519,232 (GRCm39) I545T probably damaging Het
Tcaim T C 9: 122,655,271 (GRCm39) W248R probably damaging Het
Tepsin A C 11: 119,989,462 (GRCm39) F13C probably damaging Het
Terf1 T A 1: 15,889,162 (GRCm39) L197* probably null Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Tmem63b G A 17: 45,972,223 (GRCm39) H745Y possibly damaging Het
Trim40 A G 17: 37,199,970 (GRCm39) L36P probably damaging Het
Trim72 A G 7: 127,608,254 (GRCm39) I251V probably benign Het
Trio T C 15: 27,756,622 (GRCm39) Y914C probably damaging Het
Vmn2r113 G A 17: 23,164,501 (GRCm39) V135I probably benign Het
Vmn2r117 T A 17: 23,696,429 (GRCm39) H326L probably damaging Het
Vmn2r28 A T 7: 5,484,246 (GRCm39) C651* probably null Het
Xpnpep1 T C 19: 52,994,641 (GRCm39) E329G probably benign Het
Xpo4 G A 14: 57,823,364 (GRCm39) T1042M possibly damaging Het
Ypel1 A C 16: 16,925,087 (GRCm39) D28E probably benign Het
Zdbf2 GAAAAA GAAAAAA 1: 63,344,701 (GRCm39) probably null Het
Zfp51 A T 17: 21,684,585 (GRCm39) H400L probably damaging Het
Zfp518b A T 5: 38,830,750 (GRCm39) F418L probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp672 T C 11: 58,207,790 (GRCm39) H177R probably benign Het
Zfp692 C A 11: 58,200,805 (GRCm39) P229T possibly damaging Het
Zswim4 A T 8: 84,950,829 (GRCm39) C533S 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
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
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

Sequencing Primer
Posted On 2014-06-23