|Institutional Source||Beutler Lab|
|Gene Name||procollagen lysine, 2-oxoglutarate 5-dioxygenase 2|
|Synonyms||D530025C14Rik, Plod-2, LH2, lysyl hydroxylase 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R9120 (G1)|
|Chromosomal Location||92542223-92608428 bp(+) (GRCm38)|
|Type of Mutation||start gained|
|DNA Base Change (assembly)||G to T at 92542327 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000125373 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070522] [ENSMUST00000160359]|
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plod2||
(F):5'- TTCCACAAGCAAGCTCCCTG -3'
(R):5'- AACATGCCCAGTTCTCTCTAGACC -3'
(F):5'- TGAGGCGGTGCACGTAG -3'
(R):5'- AGTTCTCTCTAGACCGCCGG -3'