|Institutional Source||Beutler Lab|
|Gene Name||glypican 6|
|Essential gene?||Probably non essential (E-score: 0.200)|
|Stock #||R8413 (G1)|
|Chromosomal Location||116925315-117976544 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 117892349 bp (GRCm38)|
|Amino Acid Change||Valine to Glutamic Acid at position 387 (V387E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000120362 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078849] [ENSMUST00000088483] [ENSMUST00000125435]|
AA Change: V387E
PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: V387E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, short long bones, small skull, small snout, cleft palate and decreased chondrocyte proliferation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gpc6||
(F):5'- AACTCCAGTAAGTATCTCACCTTCTG -3'
(R):5'- GACTGAAAACCTTGCCATAGGG -3'
(F):5'- AGTAAGTATCTCACCTTCTGGATGTC -3'
(R):5'- TTGCCATAGGGAAAGACTACC -3'