Incidental Mutation 'R7852:Gys2'
ID 606988
Institutional Source Beutler Lab
Gene Symbol Gys2
Ensembl Gene ENSMUSG00000030244
Gene Name glycogen synthase 2
Synonyms glycogen synthase, liver, LGS
MMRRC Submission 045905-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.347) question?
Stock # R7852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 142368339-142418835 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142376059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 534 (F534L)
Ref Sequence ENSEMBL: ENSMUSP00000032371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032371]
AlphaFold Q8VCB3
Predicted Effect probably damaging
Transcript: ENSMUST00000032371
AA Change: F534L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: F534L

DomainStartEndE-ValueType
Pfam:Glycogen_syn 32 667 N/A PFAM
Meta Mutation Damage Score 0.8446 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGT GTGTTTGT 11: 43,478,253 (GRCm39) probably null Het
Aco1 A G 4: 40,180,263 (GRCm39) D388G probably benign Het
Adgrl1 T G 8: 84,662,187 (GRCm39) L1016R probably damaging Het
Agmo C T 12: 37,292,051 (GRCm39) P4L possibly damaging Het
Agrn A T 4: 156,253,514 (GRCm39) H1792Q probably benign Het
Arhgef40 C T 14: 52,229,254 (GRCm39) L615F unknown Het
Atp6v1b1 A T 6: 83,729,452 (GRCm39) M121L possibly damaging Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cep152 A T 2: 125,432,033 (GRCm39) N622K possibly damaging Het
Cfhr1 A C 1: 139,484,165 (GRCm39) V117G probably damaging Het
Dnajb1 T A 8: 84,336,834 (GRCm39) D201E probably benign Het
Dpysl2 T C 14: 67,100,092 (GRCm39) N48S probably benign Het
Dsc2 A G 18: 20,179,342 (GRCm39) I242T possibly damaging Het
Eif1ad10 A C 12: 88,216,588 (GRCm39) Y95D probably damaging Het
Eif1ad3 G A 12: 87,843,742 (GRCm39) V130M unknown Het
Fam193a C A 5: 34,568,161 (GRCm39) D153E probably benign Het
Flnc G T 6: 29,440,897 (GRCm39) D332Y probably damaging Het
Fstl5 A G 3: 76,615,275 (GRCm39) I779V probably benign Het
Gm29394 T C 15: 57,912,172 (GRCm39) I11V unknown Het
Gm36864 ATCAGAAGTTTC ATC 7: 43,886,361 (GRCm39) probably benign Het
Gnpnat1 G A 14: 45,622,110 (GRCm39) P28S probably damaging Het
Grk5 T C 19: 61,069,383 (GRCm39) probably null Het
Igdcc4 G A 9: 65,027,540 (GRCm39) V201I probably benign Het
Khdc4 T A 3: 88,604,043 (GRCm39) S287T probably benign Het
Kif12 G C 4: 63,086,226 (GRCm39) P374A probably benign Het
Krt16 A T 11: 100,137,592 (GRCm39) I371N probably damaging Het
Lrfn2 G A 17: 49,376,972 (GRCm39) V18I possibly damaging Het
Masp2 G A 4: 148,687,189 (GRCm39) E24K probably benign Het
Mdga2 T C 12: 66,517,724 (GRCm39) N37D possibly damaging Het
Med12l T A 3: 59,155,332 (GRCm39) F1171I probably damaging Het
Med22 A T 2: 26,800,376 (GRCm39) Y18N probably damaging Het
Mfsd4b1 T C 10: 39,879,411 (GRCm39) N162S probably benign Het
Micu2 A T 14: 58,169,710 (GRCm39) N213K probably benign Het
Mpc1 C T 17: 8,515,740 (GRCm39) T86I probably damaging Het
Mto1 G T 9: 78,356,820 (GRCm39) V112L possibly damaging Het
Napepld C T 5: 21,888,171 (GRCm39) V93I probably benign Het
Nkx2-2 A T 2: 147,026,189 (GRCm39) M183K probably damaging Het
Nlrp10 A G 7: 108,524,281 (GRCm39) S400P probably damaging Het
Nynrin T C 14: 56,108,886 (GRCm39) L1331P probably damaging Het
Ofcc1 T A 13: 40,333,915 (GRCm39) D392V probably damaging Het
Or10q12 A G 19: 13,745,874 (GRCm39) H56R probably benign Het
Or11a4 T C 17: 37,536,163 (GRCm39) V49A probably benign Het
Or2ag16 A T 7: 106,351,845 (GRCm39) M250K probably damaging Het
Or6c38 T A 10: 128,929,385 (GRCm39) I153F probably benign Het
Patl2 C T 2: 122,009,590 (GRCm39) probably benign Het
Pde8b T G 13: 95,244,205 (GRCm39) D78A probably damaging Het
Pgls T A 8: 72,047,847 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,693 (GRCm39) S355P probably benign Het
Pole G A 5: 110,454,695 (GRCm39) R976Q probably damaging Het
Ppip5k2 A G 1: 97,668,896 (GRCm39) L511S probably damaging Het
Prcp A T 7: 92,577,900 (GRCm39) N390Y probably benign Het
Rpgrip1 T A 14: 52,383,337 (GRCm39) N752K probably benign Het
Rsl1d1 A G 16: 11,021,098 (GRCm39) S8P probably benign Het
S100a1 C A 3: 90,419,392 (GRCm39) A18S probably benign Het
Slc25a13 A G 6: 6,152,461 (GRCm39) F92S probably damaging Het
Slc35f3 T C 8: 127,121,219 (GRCm39) I360T probably damaging Het
Slc35f6 T C 5: 30,814,159 (GRCm39) Y202H possibly damaging Het
Sox6 A T 7: 115,400,839 (GRCm39) M1K probably null Het
Stx8 G A 11: 67,860,611 (GRCm39) D11N probably damaging Het
Vmn2r130 A G 17: 23,282,788 (GRCm39) N156S probably benign Het
Vmn2r52 T C 7: 9,892,895 (GRCm39) Y748C probably damaging Het
Vmn2r78 T A 7: 86,569,378 (GRCm39) Y90* probably null Het
Zc3h4 A G 7: 16,156,392 (GRCm39) S303G unknown 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
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
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'- AAAGTTTGCTCAACATCTGCC -3'
(R):5'- CCAGAAAGTAGCCATCTGGG -3'

Sequencing Primer
(F):5'- TTGGGGGCAGAATATTCAATATTAGG -3'
(R):5'- TGTAGATGAAGCCCTACTGCCATG -3'
Posted On 2019-12-20