|Institutional Source||Beutler Lab|
|Gene Name||glycogen synthase 2|
|Synonyms||glycogen synthase, liver, LGS|
|Is this an essential gene?||Possibly non essential (E-score: 0.253)|
|Stock #||R6261 (G1)|
|Chromosomal Location||142422613-142473109 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 142459408 bp|
|Amino Acid Change||Isoleucine to Valine at position 218 (I218V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032371 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032371]|
|Predicted Effect||probably benign
AA Change: I218V
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: I218V
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a conditional allele knocked out in the liver results in abnormal glycogen homeostasis, altered glucose homeostasis, decreased exercise endurance, and a phenotype similar to patients with glycogen storage disease 0. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gys2||
(F):5'- GAGCAGAATTCAGGTCTCTCAAC -3'
(R):5'- TTCTGATGCAGGTGACAGACC -3'
(F):5'- TGCACTCTGAGCAAAATTAAGC -3'
(R):5'- GGTGACAGACCACGCAGAC -3'