|Institutional Source||Beutler Lab|
|Gene Name||procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III|
|Is this an essential gene?||Probably non essential (E-score: 0.060)|
|Stock #||R8516 (G1)|
|Chromosomal Location||100285520-100319699 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 100314662 bp (GRCm38)|
|Amino Acid Change||Methionine to Valine at position 462 (M462V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055297 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000057023] [ENSMUST00000139790]|
|AlphaFold||no structure available at present|
AA Change: M462V
PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: M462V
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in P4ha3||
(F):5'- CACTCGTGCATATCGGAAAAC -3'
(R):5'- CCCCAGCAATGTGTCTTGAG -3'
(F):5'- GCAGCATATTGAGTACTTGCCAGC -3'
(R):5'- CCCAGCAATGTGTCTTGAGGTTTAC -3'