Incidental Mutation 'R7033:Gys2'
ID 546448
Institutional Source Beutler Lab
Gene Symbol Gys2
Ensembl Gene ENSMUSG00000030244
Gene Name glycogen synthase 2
Synonyms glycogen synthase, liver, LGS
MMRRC Submission 045134-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.347) question?
Stock # R7033 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142368339-142418835 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142418448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 27 (D27G)
Ref Sequence ENSEMBL: ENSMUSP00000032371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032371]
AlphaFold Q8VCB3
Predicted Effect probably benign
Transcript: ENSMUST00000032371
AA Change: D27G

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032371
Gene: ENSMUSG00000030244
AA Change: D27G

DomainStartEndE-ValueType
Pfam:Glycogen_syn 32 667 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (70/73)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A G 14: 41,819,374 (GRCm39) Y105C probably damaging Het
Acr T C 15: 89,453,703 (GRCm39) S81P probably benign Het
Akr1c14 T C 13: 4,129,178 (GRCm39) probably null Het
Ank2 C A 3: 126,738,499 (GRCm39) E2375* probably null Het
Avpi1 A G 19: 42,113,416 (GRCm39) W14R probably damaging Het
Brd4 A G 17: 32,417,989 (GRCm39) V55A probably benign Het
Casp8ap2 A G 4: 32,639,392 (GRCm39) N149D probably damaging Het
Ccl25 A T 8: 4,399,641 (GRCm39) probably benign Het
Celf5 A G 10: 81,298,548 (GRCm39) L299P probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cfap57 T G 4: 118,470,323 (GRCm39) T186P possibly damaging Het
Chrm4 A G 2: 91,758,692 (GRCm39) M367V probably benign Het
Col1a2 A T 6: 4,516,904 (GRCm39) probably benign Het
Crybg3 G A 16: 59,374,528 (GRCm39) P2242L probably damaging Het
Cspg4 T C 9: 56,795,358 (GRCm39) V1031A probably damaging Het
Dbnl C A 11: 5,748,102 (GRCm39) P313T probably benign Het
Dnah1 A G 14: 30,986,882 (GRCm39) F3637L probably damaging Het
Dnah7a A T 1: 53,518,820 (GRCm39) I2979N probably damaging Het
Dusp10 T C 1: 183,769,802 (GRCm39) V256A possibly damaging Het
Dync2i1 T C 12: 116,175,511 (GRCm39) M889V probably benign Het
Erlin2 T C 8: 27,521,792 (GRCm39) V164A probably benign Het
Fam110a T C 2: 151,812,131 (GRCm39) D213G probably damaging Het
Fkbp1a T C 2: 151,399,420 (GRCm39) probably null Het
Foxg1 G A 12: 49,431,503 (GRCm39) probably benign Het
Gm12185 T C 11: 48,806,826 (GRCm39) S122G probably benign Het
Gm2042 A T 12: 87,927,051 (GRCm39) D456V probably damaging Het
Grin2b A G 6: 135,900,036 (GRCm39) Y282H probably damaging Het
H2-DMa T A 17: 34,355,971 (GRCm39) probably null Het
Hectd4 T A 5: 121,502,631 (GRCm39) I4245N possibly damaging Het
Incenp A G 19: 9,870,736 (GRCm39) Y298H unknown Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Kifc1 A T 17: 34,102,671 (GRCm39) V314E probably damaging Het
Lurap1l C T 4: 80,829,604 (GRCm39) P5S probably benign Het
Mtmr11 A G 3: 96,077,262 (GRCm39) Y540C probably damaging Het
Muc4 C A 16: 32,576,698 (GRCm39) probably benign Het
Myh13 A G 11: 67,260,142 (GRCm39) E1860G possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nbeal1 G A 1: 60,350,106 (GRCm39) G2385D probably damaging Het
Ncaph2 G A 15: 89,255,559 (GRCm39) A578T probably benign Het
Ncr1 T C 7: 4,341,144 (GRCm39) V8A possibly damaging Het
Nutm1 T C 2: 112,086,513 (GRCm39) T73A probably damaging Het
Olfm1 G A 2: 28,119,348 (GRCm39) D313N probably damaging Het
Or11h4 A G 14: 50,974,164 (GRCm39) F152L possibly damaging Het
Or13f5 A G 4: 52,826,089 (GRCm39) M231V probably benign Het
Or4a66 T A 2: 88,531,164 (GRCm39) N170Y probably damaging Het
Otog T A 7: 45,916,822 (GRCm39) probably null Het
Peak1 G T 9: 56,166,991 (GRCm39) D312E probably damaging Het
Plekhg1 T C 10: 3,890,251 (GRCm39) I331T probably damaging Het
Polr1b T C 2: 128,957,562 (GRCm39) V539A possibly damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Ppargc1b G T 18: 61,440,785 (GRCm39) A711D probably damaging Het
Prnd T A 2: 131,795,362 (GRCm39) C161S possibly damaging Het
Prrt4 A G 6: 29,171,147 (GRCm39) L435P possibly damaging Het
Psen2 C T 1: 180,055,085 (GRCm39) probably null Het
Psg23 T C 7: 18,348,669 (GRCm39) E46G possibly damaging Het
Rasgef1b C T 5: 99,380,195 (GRCm39) R350H probably damaging Het
Rfxank G C 8: 70,590,820 (GRCm39) P16A probably benign Het
Sema6a A G 18: 47,381,637 (GRCm39) I944T probably damaging Het
Serpinc1 A G 1: 160,825,091 (GRCm39) T313A probably benign Het
Slc27a4 T C 2: 29,694,283 (GRCm39) S36P possibly damaging Het
Slc36a1 C A 11: 55,114,563 (GRCm39) R214S probably benign Het
Sorl1 C T 9: 41,942,279 (GRCm39) S982N possibly damaging Het
Speer1k G T 5: 11,000,518 (GRCm39) probably null Het
Syt1 A C 10: 108,526,797 (GRCm39) D37E probably benign Het
Tcl1b5 A T 12: 105,142,750 (GRCm39) D26V probably damaging Het
Tenm4 A T 7: 96,544,430 (GRCm39) K2149* probably null Het
Ubc T A 5: 125,465,238 (GRCm39) I30F probably damaging Het
Ugt1a7c A T 1: 88,023,250 (GRCm39) E136D possibly damaging Het
Utp20 A G 10: 88,590,337 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,289 (GRCm39) V248I probably damaging Het
Vmn2r105 T C 17: 20,428,874 (GRCm39) H734R probably damaging Het
Xrcc2 T G 5: 25,897,707 (GRCm39) I81L possibly damaging Het
Zfat A C 15: 68,052,864 (GRCm39) I310S probably damaging Het
Zfp119a A G 17: 56,173,009 (GRCm39) V278A probably benign Het
Zfp53 A G 17: 21,720,508 (GRCm39) K33E probably benign Het
Zfp866 G T 8: 70,218,491 (GRCm39) H376Q 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
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
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'- AATTCCTACTTGGCCATGACATTC -3'
(R):5'- ATTGCTGGCTCACCCTGTAG -3'

Sequencing Primer
(F):5'- ACTTGGCCATGACATTCATTTAC -3'
(R):5'- TGTAGAGGCTATCCCAAGGC -3'
Posted On 2019-05-13