|Institutional Source||Beutler Lab|
|Gene Name||prolyl 4-hydroxylase, beta polypeptide|
|Synonyms||Thbp, protein disulfide isomerase, ERp59, PDI, Pdia1|
|Is this an essential gene?||Possibly essential (E-score: 0.585)|
|Stock #||R5893 (G1)|
|Chromosomal Location||120560298-120573253 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 120571650 bp|
|Amino Acid Change||Serine to Proline at position 77 (S77P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026122 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026122] [ENSMUST00000168360]|
|Predicted Effect||probably damaging
AA Change: S77P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S77P
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-out allele and conditional allele activated in immune cells exhibit impaired neutrophil recruitment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in P4hb||
(F):5'- CCAAAGCCTACACAGTTATTAAAGGG -3'
(R):5'- TCATATTGCCCAAGAGCACC -3'
(F):5'- TATTAAAGGGCAGTTCTAGGGTCAC -3'
(R):5'- AGCTATCAGTGCAGTCTCTTGAC -3'