|Institutional Source||Beutler Lab|
|Gene Name||glycogen synthase 2|
|Synonyms||glycogen synthase, liver, LGS|
|Is this an essential gene?||Possibly non essential (E-score: 0.275)|
|Stock #||R4588 (G1)|
|Chromosomal Location||142422613-142473109 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 142449455 bp|
|Amino Acid Change||Methionine to Threonine at position 428 (M428T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032371 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032371]|
|Predicted Effect||possibly damaging
AA Change: M428T
PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
AA Change: M428T
|Meta Mutation Damage Score||0.8271|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
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'- GGTTCAAAGAAATTCTGTAAGTGGG -3'
(R):5'- GCGCACATGCACACAGATTC -3'
(F):5'- GGTTAAAGGTTCTTGCTGCCAACC -3'
(R):5'- GCACACAGATTCTTATTCAGGGGC -3'