Incidental Mutation 'R1208:Gys2'
ID 164822
Institutional Source Beutler Lab
Gene Symbol Gys2
Ensembl Gene ENSMUSG00000030244
Gene Name glycogen synthase 2
Synonyms glycogen synthase, liver, LGS
MMRRC Submission 039277-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.347) question?
Stock # R1208 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 142368339-142418835 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 142396193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032371]
AlphaFold Q8VCB3
Predicted Effect probably null
Transcript: ENSMUST00000032371
SMART Domains Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244

DomainStartEndE-ValueType
Pfam:Glycogen_syn 32 667 N/A PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik C A 7: 29,260,708 (GRCm39) noncoding transcript Het
Aadacl2fm3 C T 3: 59,772,715 (GRCm39) P73L probably benign Het
Asb14 T C 14: 26,622,375 (GRCm39) probably benign Het
Atp13a3 A T 16: 30,173,065 (GRCm39) C271S probably benign Het
Ccl25 T A 8: 4,407,631 (GRCm39) S199T possibly damaging Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Cep104 A T 4: 154,069,836 (GRCm39) D270V probably damaging Het
Dnah5 T A 15: 28,327,877 (GRCm39) Y2084N probably damaging Het
Eftud2 A G 11: 102,755,592 (GRCm39) V214A probably benign Het
Epb41l4b C T 4: 57,077,252 (GRCm39) probably null Het
Lig4 T C 8: 10,021,062 (GRCm39) E906G probably damaging Het
Mast3 G A 8: 71,240,916 (GRCm39) probably null Het
Mta2 G A 19: 8,928,381 (GRCm39) R560H probably damaging Het
Myom2 T C 8: 15,134,631 (GRCm39) L478P probably damaging Het
Neb A T 2: 52,193,912 (GRCm39) L673* probably null Het
Niban3 A T 8: 72,053,119 (GRCm39) T125S probably damaging Het
Or4c35 G A 2: 89,808,836 (GRCm39) C238Y probably damaging Het
Pdpk1 C A 17: 24,312,583 (GRCm39) probably null Het
Pphln1 T C 15: 93,357,610 (GRCm39) W162R probably damaging Het
Ppp1r13b A G 12: 111,811,339 (GRCm39) V183A probably damaging Het
Recql5 T C 11: 115,783,982 (GRCm39) K951E probably damaging Het
Rev1 T C 1: 38,098,199 (GRCm39) probably benign Het
Slc25a25 T C 2: 32,307,437 (GRCm39) E309G probably benign Het
Slc25a36 T C 9: 96,967,188 (GRCm39) probably benign Het
Sycp2 A T 2: 177,998,421 (GRCm39) I1033N possibly damaging Het
Tbpl2 A T 2: 23,984,783 (GRCm39) N120K probably benign Het
Unc5b A T 10: 60,602,771 (GRCm39) L876Q probably damaging Het
Usp9y T C Y: 1,356,282 (GRCm39) T1140A probably benign Homo
Vmn1r40 A G 6: 89,691,326 (GRCm39) I48V probably benign Het
Zbbx T C 3: 74,945,299 (GRCm39) I708V possibly damaging Het
Zfp318 AGAAGA AGAAGAGGAAGA 17: 46,723,446 (GRCm39) 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
R1188:Gys2 UTSW 6 142,400,909 (GRCm39) missense probably damaging 1.00
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'- GCCTGTGAATGGTGAAGCCCTAA -3'
(R):5'- GGAATGGTAATGAGACAACAGCACCT -3'

Sequencing Primer
(F):5'- tcccccaaccataaattattttcatc -3'
(R):5'- ccaagcattcacagtagcag -3'
Posted On 2014-03-28