|Institutional Source||Beutler Lab|
|Gene Name||protein disulfide isomerase associated 4|
|Synonyms||Cai, U48620, Erp72, ERp72|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5541 (G1)|
|Chromosomal Location||47796141-47813430 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 47796637 bp|
|Amino Acid Change||Valine to Methionine at position 593 (V593M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000076521 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000077290]|
|Predicted Effect||probably damaging
AA Change: V593M
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: V593M
|Meta Mutation Damage Score||0.1568|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
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, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a conditional allele activated in platelets exhibit decreased platelet aggregation and increased bleeding time. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pdia4||
(F):5'- AATGCTGTCCACTAGTGCC -3'
(R):5'- GTGGGAAAGACCTTTGATGCC -3'
(F):5'- CTGTCCACTAGTGCCTGGTG -3'
(R):5'- GAAAGACCTTTGATGCCATTGTG -3'