|Institutional Source||Beutler Lab|
|Gene Name||glypican 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7268 (G1)|
|Chromosomal Location||92831645-92860779 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 92858371 bp|
|Amino Acid Change||Proline to Glutamine at position 494 (P494Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047199 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045970]|
|Predicted Effect||possibly damaging
AA Change: P494Q
PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: P494Q
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gpc1||
(F):5'- GCTATCATGTGACAGGTGGG -3'
(R):5'- AGACAGTCCTTGGGGATAGG -3'
(F):5'- TATCATGTGACAGGTGGGCACAG -3'
(R):5'- ATAGGGGGCAGTTACCGC -3'