Incidental Mutation 'R1188:Gys2'
ID 102353
Institutional Source Beutler Lab
Gene Symbol Gys2
Ensembl Gene ENSMUSG00000030244
Gene Name glycogen synthase 2
Synonyms glycogen synthase, liver, LGS
MMRRC Submission 039260-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.347) question?
Stock # R1188 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 142368339-142418835 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142400909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 297 (H297L)
Ref Sequence ENSEMBL: ENSMUSP00000032371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032371]
AlphaFold Q8VCB3
Predicted Effect probably damaging
Transcript: ENSMUST00000032371
AA Change: H297L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: H297L

DomainStartEndE-ValueType
Pfam:Glycogen_syn 32 667 N/A PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.6%
Validation Efficiency
MGI Phenotype 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
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik T C 5: 66,147,741 (GRCm39) Y14C unknown Het
Afap1l2 T C 19: 56,913,501 (GRCm39) K312E probably damaging Het
Amigo2 T A 15: 97,143,594 (GRCm39) E276V probably benign Het
Atf2 A G 2: 73,675,881 (GRCm39) F114L probably damaging Het
Avpr1a G T 10: 122,284,824 (GRCm39) G39C possibly damaging Het
Ccpg1 A G 9: 72,919,788 (GRCm39) R468G possibly damaging Het
Celf6 G T 9: 59,497,961 (GRCm39) R130L probably benign Het
Dsp T C 13: 38,378,939 (GRCm39) S1296P probably damaging Het
Fnip2 C T 3: 79,369,469 (GRCm39) R1072H probably damaging Het
Fsip2 G T 2: 82,805,361 (GRCm39) C560F possibly damaging Het
Get3 A G 8: 85,746,422 (GRCm39) I142T probably damaging Het
Gpr20 A C 15: 73,567,617 (GRCm39) H257Q probably damaging Het
Habp2 G A 19: 56,300,154 (GRCm39) S201N probably benign Het
Hars2 T C 18: 36,921,022 (GRCm39) I198T probably damaging Het
Jag2 G A 12: 112,883,741 (GRCm39) Q247* probably null Het
Jam2 A G 16: 84,603,755 (GRCm39) T81A probably damaging Het
Mrps26 G A 2: 130,406,301 (GRCm39) E145K probably damaging Het
Nup210l T C 3: 90,105,486 (GRCm39) F1545L probably benign Het
Or10d4c A G 9: 39,558,772 (GRCm39) Y250C probably damaging Het
Pikfyve T A 1: 65,286,118 (GRCm39) V1074D possibly damaging Het
Prkag1 T A 15: 98,712,479 (GRCm39) I118F probably damaging Het
R3hdm2 G A 10: 127,288,624 (GRCm39) V91I probably benign Het
Rnf168 T C 16: 32,117,477 (GRCm39) V346A probably benign Het
Slc17a7 T C 7: 44,819,311 (GRCm39) V129A possibly damaging Het
Snai3 T A 8: 123,181,701 (GRCm39) Q252L probably damaging Het
Snx17 T C 5: 31,353,166 (GRCm39) V133A probably benign Het
Stt3a A G 9: 36,662,636 (GRCm39) S59P probably damaging Het
Sun1 C T 5: 139,224,611 (GRCm39) R546C probably damaging Het
Thsd4 T A 9: 60,301,689 (GRCm39) Q202L probably benign Het
Tnrc6b A G 15: 80,763,430 (GRCm39) T311A probably benign Het
Tshr T A 12: 91,468,942 (GRCm39) D18E probably benign Het
Ttn A T 2: 76,619,773 (GRCm39) L15965Q probably damaging Het
Wnk1 C A 6: 119,925,670 (GRCm39) E1265* probably null Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Other mutations in Gys2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Gys2 APN 6 142,409,016 (GRCm39) nonsense probably null
IGL02963:Gys2 APN 6 142,395,154 (GRCm39) critical splice donor site probably null
IGL02997:Gys2 APN 6 142,395,195 (GRCm39) missense probably damaging 1.00
candy_corn UTSW 6 142,402,059 (GRCm39) missense probably benign 0.00
embittered UTSW 6 142,400,210 (GRCm39) missense possibly damaging 0.92
hazelnut UTSW 6 142,395,181 (GRCm39) missense possibly damaging 0.67
R0243:Gys2 UTSW 6 142,418,394 (GRCm39) splice site probably benign
R1124:Gys2 UTSW 6 142,391,739 (GRCm39) missense probably damaging 0.97
R1208:Gys2 UTSW 6 142,396,193 (GRCm39) critical splice donor site probably null
R1208:Gys2 UTSW 6 142,396,193 (GRCm39) critical splice donor site probably null
R1235:Gys2 UTSW 6 142,376,019 (GRCm39) missense probably damaging 1.00
R1387:Gys2 UTSW 6 142,407,009 (GRCm39) missense probably benign 0.06
R1758:Gys2 UTSW 6 142,418,432 (GRCm39) missense probably damaging 1.00
R1819:Gys2 UTSW 6 142,406,912 (GRCm39) missense probably damaging 1.00
R2221:Gys2 UTSW 6 142,402,148 (GRCm39) missense probably damaging 1.00
R2311:Gys2 UTSW 6 142,408,970 (GRCm39) missense possibly damaging 0.81
R2344:Gys2 UTSW 6 142,391,748 (GRCm39) missense probably damaging 0.99
R3151:Gys2 UTSW 6 142,402,059 (GRCm39) missense probably benign 0.00
R3902:Gys2 UTSW 6 142,418,526 (GRCm39) start codon destroyed probably null 0.98
R4532:Gys2 UTSW 6 142,400,867 (GRCm39) missense probably damaging 0.98
R4577:Gys2 UTSW 6 142,400,236 (GRCm39) missense possibly damaging 0.93
R4588:Gys2 UTSW 6 142,395,181 (GRCm39) missense possibly damaging 0.67
R4606:Gys2 UTSW 6 142,400,210 (GRCm39) missense possibly damaging 0.92
R5338:Gys2 UTSW 6 142,400,239 (GRCm39) missense probably damaging 1.00
R5411:Gys2 UTSW 6 142,394,147 (GRCm39) missense probably damaging 0.99
R6072:Gys2 UTSW 6 142,374,263 (GRCm39) missense probably damaging 0.98
R6261:Gys2 UTSW 6 142,405,134 (GRCm39) missense probably benign
R6366:Gys2 UTSW 6 142,409,120 (GRCm39) missense probably benign 0.02
R6597:Gys2 UTSW 6 142,402,035 (GRCm39) missense probably benign 0.25
R6930:Gys2 UTSW 6 142,405,106 (GRCm39) critical splice donor site probably null
R7033:Gys2 UTSW 6 142,418,448 (GRCm39) missense probably benign 0.08
R7663:Gys2 UTSW 6 142,405,211 (GRCm39) missense probably damaging 1.00
R7757:Gys2 UTSW 6 142,400,177 (GRCm39) missense probably benign 0.10
R7848:Gys2 UTSW 6 142,391,741 (GRCm39) nonsense probably null
R7852:Gys2 UTSW 6 142,376,059 (GRCm39) missense probably damaging 1.00
R8008:Gys2 UTSW 6 142,400,243 (GRCm39) missense probably damaging 1.00
R8037:Gys2 UTSW 6 142,394,119 (GRCm39) missense probably benign 0.44
R8070:Gys2 UTSW 6 142,394,230 (GRCm39) critical splice acceptor site probably null
R8152:Gys2 UTSW 6 142,373,136 (GRCm39) missense probably benign
R8178:Gys2 UTSW 6 142,402,138 (GRCm39) missense probably damaging 1.00
R8439:Gys2 UTSW 6 142,406,921 (GRCm39) missense probably benign 0.09
R8674:Gys2 UTSW 6 142,376,048 (GRCm39) missense probably benign 0.02
R8880:Gys2 UTSW 6 142,402,113 (GRCm39) missense probably damaging 1.00
R8956:Gys2 UTSW 6 142,374,267 (GRCm39) missense probably damaging 1.00
R9043:Gys2 UTSW 6 142,376,059 (GRCm39) missense probably damaging 1.00
R9182:Gys2 UTSW 6 142,406,978 (GRCm39) missense possibly damaging 0.86
R9182:Gys2 UTSW 6 142,391,735 (GRCm39) missense probably damaging 0.99
R9185:Gys2 UTSW 6 142,405,112 (GRCm39) missense probably damaging 0.97
R9286:Gys2 UTSW 6 142,376,037 (GRCm39) missense possibly damaging 0.87
R9556:Gys2 UTSW 6 142,374,377 (GRCm39) missense probably damaging 1.00
R9744:Gys2 UTSW 6 142,394,187 (GRCm39) missense probably benign 0.00
R9747:Gys2 UTSW 6 142,395,181 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TGCAGGAGCAAGAGACATCTGTGATAA -3'
(R):5'- CCTCCCACACTAACTGAAAATTGCCT -3'

Sequencing Primer
(F):5'- agaaccacccctctctcc -3'
(R):5'- TGCCTTTTAAAGAAACTACCAAATTC -3'
Posted On 2014-01-15