|Institutional Source||Beutler Lab|
|Gene Name||prolyl 3-hydroxylase 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7445 (G1)|
|Chromosomal Location||25959288-26105784 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 25985065 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 317 (Y317F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038056 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039990]|
|Predicted Effect||probably damaging
AA Change: Y317F
PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: Y317F
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele of exon 2 exhibit embryonic lethality between E8.5 and E12.5 with maternal platelets aggregate around the ectoplacental cone. Exon 3 knockouts are viable but mice exhibit reduced hydroxylation of collagen chains, especially in the sclera, leading to eye tissue dysmorphology and progressive myopia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in P3h2||
(F):5'- CACACTGCAGTTTAAAGAGATCTC -3'
(R):5'- GGATTTCTGCAAAGTGTCCAGC -3'
(F):5'- GAGATCTCTCTCAGAACTCTAGTCTC -3'
(R):5'- GAGTACCTGAAACTGATCATCTGTG -3'