|Institutional Source||Beutler Lab|
|Gene Name||protein disulfide isomerase associated 3|
|Synonyms||ERp61, Plca, PDI, Grp58, Erp, PDI-Q2, ERp57, ERp60|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0730 (G1)|
|Chromosomal Location||121413775-121438687 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 121432377 bp|
|Amino Acid Change||Glycine to Serine at position 275 (G275S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028683 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028683] [ENSMUST00000135079]|
|Predicted Effect||probably damaging
AA Change: G275S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G275S
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.356|
|Coding Region Coverage||
|Validation Efficiency||99% (99/100)|
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||
|Other mutations in Pdia3||
(F):5'- TGTGTGGACCCATTACCTCTTACAGTG -3'
(R):5'- GCAGTTTCTGGAGCTATGTGTTCCC -3'
(F):5'- GCATTGTGTTGATAATGACTTCCTC -3'
(R):5'- gtccagattagccacaaattcag -3'