|Institutional Source||Beutler Lab|
|Gene Name||perlecan (heparan sulfate proteoglycan 2)|
|Synonyms||Plc, Pcn, per|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5546 (G1)|
|Chromosomal Location||137468769-137570630 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 137548174 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000131316 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030547] [ENSMUST00000171332]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hspg2||
(F):5'- GAGAATCTGACTCAGGCCAAC -3'
(R):5'- TGAGGACACCTGGTATAGCC -3'
(F):5'- GGCCAACCTGCACTCCTC -3'
(R):5'- TGGTATAGCCGCAGCCTTGAG -3'