Incidental Mutation 'R4588:Gys2'
ID 342610
Institutional Source Beutler Lab
Gene Symbol Gys2
Ensembl Gene ENSMUSG00000030244
Gene Name glycogen synthase 2
Synonyms glycogen synthase, liver, LGS
MMRRC Submission 042007-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.347) question?
Stock # R4588 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 142368339-142418835 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142395181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 428 (M428T)
Ref Sequence ENSEMBL: ENSMUSP00000032371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032371]
AlphaFold Q8VCB3
Predicted Effect possibly damaging
Transcript: ENSMUST00000032371
AA Change: M428T

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: M428T

DomainStartEndE-ValueType
Pfam:Glycogen_syn 32 667 N/A PFAM
Meta Mutation Damage Score 0.8271 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (51/52)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,833,701 (GRCm39) probably null Het
Abcb4 A T 5: 8,997,328 (GRCm39) I936F probably benign Het
Adnp2 G T 18: 80,171,863 (GRCm39) L849I probably benign Het
Atf7ip T C 6: 136,576,692 (GRCm39) S1032P probably benign Het
Atr A C 9: 95,747,720 (GRCm39) D334A probably benign Het
Atrip A T 9: 108,889,347 (GRCm39) D20E probably damaging Het
Atxn7 T A 14: 14,096,268 (GRCm38) C43* probably null Het
Cfap65 C A 1: 74,943,215 (GRCm39) Q1603H possibly damaging Het
Cpne5 T C 17: 29,383,687 (GRCm39) I327V probably benign Het
Ctsa T C 2: 164,676,070 (GRCm39) S41P possibly damaging Het
Cyp4x1 A T 4: 114,965,994 (GRCm39) L444Q probably damaging Het
Dchs1 C A 7: 105,405,248 (GRCm39) M2431I probably benign Het
Ddi1 T A 9: 6,266,003 (GRCm39) H122L probably benign Het
Defa21 C T 8: 21,515,664 (GRCm39) P21S probably damaging Het
Ect2 A G 3: 27,201,149 (GRCm39) V77A probably damaging Het
Ermap C A 4: 119,045,445 (GRCm39) probably benign Het
Fancm G A 12: 65,165,215 (GRCm39) probably null Het
Gcnt3 T A 9: 69,941,512 (GRCm39) D352V probably damaging Het
Igtp T A 11: 58,097,508 (GRCm39) N226K probably damaging Het
Itpr2 T A 6: 146,142,694 (GRCm39) H1675L probably benign Het
Lipo4 G A 19: 33,476,647 (GRCm39) P367L possibly damaging Het
Lzts3 T C 2: 130,476,686 (GRCm39) *587W probably null Het
Mast3 T A 8: 71,233,251 (GRCm39) K300* probably null Het
Mepce G A 5: 137,783,534 (GRCm39) T264I possibly damaging Het
Mif4gd A T 11: 115,500,372 (GRCm39) I62N probably damaging Het
Or14a260 C T 7: 85,984,852 (GRCm39) V251I probably benign Het
Or7e175 T A 9: 20,049,383 (GRCm39) *324K probably null Het
Palm3 A G 8: 84,756,015 (GRCm39) K509R probably benign Het
Pde11a T C 2: 75,859,647 (GRCm39) T821A probably damaging Het
Pik3r5 A G 11: 68,384,087 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,271,092 (GRCm39) T3154A probably benign Het
Ptprs A G 17: 56,732,534 (GRCm39) Y438H probably damaging Het
Rdh8 T A 9: 20,734,025 (GRCm39) D70E probably benign Het
Scn2a A T 2: 65,544,111 (GRCm39) I831L possibly damaging Het
Selenoo A G 15: 88,980,921 (GRCm39) H420R probably benign Het
Slc22a16 T C 10: 40,446,677 (GRCm39) probably benign Het
Slc5a1 A G 5: 33,302,632 (GRCm39) T208A probably benign Het
Sparc T C 11: 55,296,062 (GRCm39) M121V probably benign Het
Sstr1 G T 12: 58,260,417 (GRCm39) A347S probably benign Het
Stab1 C A 14: 30,879,402 (GRCm39) V693F probably benign Het
Tnn A G 1: 159,972,681 (GRCm39) V307A probably benign Het
Trmt1 A G 8: 85,417,382 (GRCm39) probably benign Het
Ttc3 T C 16: 94,243,760 (GRCm39) S1255P probably benign Het
Ube2ql1 A C 13: 69,887,276 (GRCm39) S62A unknown Het
Vmn2r84 T A 10: 130,221,809 (GRCm39) M804L probably damaging Het
Vps13a T C 19: 16,617,403 (GRCm39) T3002A probably damaging Het
Vps50 A G 6: 3,562,306 (GRCm39) E467G probably damaging 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
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
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'- GGTTCAAAGAAATTCTGTAAGTGGG -3'
(R):5'- GCGCACATGCACACAGATTC -3'

Sequencing Primer
(F):5'- GGTTAAAGGTTCTTGCTGCCAACC -3'
(R):5'- GCACACAGATTCTTATTCAGGGGC -3'
Posted On 2015-09-24