Incidental Mutation 'IGL01965:Pygl'
ID 182488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygl
Ensembl Gene ENSMUSG00000021069
Gene Name liver glycogen phosphorylase
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.586) question?
Stock # IGL01965
Quality Score
Status
Chromosome 12
Chromosomal Location 70237589-70274457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70237888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 717 (A717T)
Ref Sequence ENSEMBL: ENSMUSP00000125585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071250] [ENSMUST00000161083]
AlphaFold Q9ET01
Predicted Effect probably benign
Transcript: ENSMUST00000071250
AA Change: A808T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: A808T

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161083
AA Change: A717T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: A717T

DomainStartEndE-ValueType
Pfam:Phosphorylase 21 739 N/A PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik T A 10: 51,633,078 (GRCm39) noncoding transcript Het
Adm C T 7: 110,227,832 (GRCm39) L67F probably benign Het
Bcl10 C T 3: 145,638,939 (GRCm39) R194* probably null Het
Brat1 T C 5: 140,703,811 (GRCm39) V688A probably benign Het
Cep57 T A 9: 13,732,816 (GRCm39) probably benign Het
Dhx57 G A 17: 80,576,279 (GRCm39) R604W probably damaging Het
Fndc3a A G 14: 72,777,842 (GRCm39) I1121T probably benign Het
Fry A G 5: 150,305,086 (GRCm39) E597G probably damaging Het
Gabra2 A G 5: 71,165,418 (GRCm39) probably benign Het
Golgb1 A G 16: 36,738,282 (GRCm39) D2207G probably damaging Het
Htr4 T A 18: 62,570,740 (GRCm39) M265K probably damaging Het
Igf2r C T 17: 12,923,225 (GRCm39) V1195M probably benign Het
Itga2 C A 13: 114,984,600 (GRCm39) probably benign Het
Itih3 T C 14: 30,637,677 (GRCm39) H494R probably damaging Het
Itpkb C A 1: 180,159,970 (GRCm39) T32K probably damaging Het
Kif16b A T 2: 142,690,325 (GRCm39) D252E probably damaging Het
Klhl33 A G 14: 51,129,187 (GRCm39) Y681H probably damaging Het
Lats1 T A 10: 7,577,470 (GRCm39) V198E probably benign Het
Me3 A G 7: 89,500,951 (GRCm39) D554G probably benign Het
Mindy4 C T 6: 55,237,517 (GRCm39) probably benign Het
Nipa2 G A 7: 55,594,371 (GRCm39) probably benign Het
Or4c116 G A 2: 88,942,535 (GRCm39) T107I probably benign Het
Or52r1 T C 7: 102,536,814 (GRCm39) E182G probably damaging Het
Or5d14 A G 2: 87,880,780 (GRCm39) F63L probably benign Het
Or8b51 A T 9: 38,568,918 (GRCm39) F257I probably benign Het
Ptgis A T 2: 167,050,173 (GRCm39) W319R probably benign Het
Rbbp8 A T 18: 11,855,317 (GRCm39) K514I probably benign Het
Scn9a A T 2: 66,314,777 (GRCm39) L1636H probably damaging Het
Serpina3j A G 12: 104,281,063 (GRCm39) T79A probably benign Het
Sfxn4 A G 19: 60,847,182 (GRCm39) probably benign Het
Shc2 T A 10: 79,463,023 (GRCm39) probably benign Het
Sim2 A T 16: 93,922,037 (GRCm39) Y294F probably benign Het
Tep1 A G 14: 51,100,952 (GRCm39) probably benign Het
Ubr1 A G 2: 120,705,879 (GRCm39) L1528P probably damaging Het
Usp53 A G 3: 122,754,802 (GRCm39) probably null Het
Vmn2r87 G T 10: 130,314,924 (GRCm39) L221I possibly damaging Het
Other mutations in Pygl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Pygl APN 12 70,237,866 (GRCm39) missense probably damaging 1.00
IGL00903:Pygl APN 12 70,254,516 (GRCm39) missense probably damaging 1.00
IGL02347:Pygl APN 12 70,248,666 (GRCm39) missense probably benign 0.14
IGL02403:Pygl APN 12 70,241,032 (GRCm39) missense probably benign
IGL02501:Pygl APN 12 70,237,908 (GRCm39) missense probably benign 0.05
IGL02727:Pygl APN 12 70,254,442 (GRCm39) splice site probably null
IGL03125:Pygl APN 12 70,244,256 (GRCm39) missense probably damaging 1.00
IGL03158:Pygl APN 12 70,242,449 (GRCm39) missense probably damaging 1.00
IGL03202:Pygl APN 12 70,246,420 (GRCm39) missense probably benign
IGL03368:Pygl APN 12 70,237,926 (GRCm39) missense probably benign
R0096:Pygl UTSW 12 70,237,940 (GRCm39) splice site probably benign
R0096:Pygl UTSW 12 70,237,940 (GRCm39) splice site probably benign
R0524:Pygl UTSW 12 70,254,498 (GRCm39) missense probably damaging 1.00
R0883:Pygl UTSW 12 70,253,178 (GRCm39) missense probably damaging 0.97
R0894:Pygl UTSW 12 70,241,148 (GRCm39) splice site probably benign
R0905:Pygl UTSW 12 70,257,791 (GRCm39) splice site probably benign
R1494:Pygl UTSW 12 70,246,504 (GRCm39) missense probably damaging 0.98
R1621:Pygl UTSW 12 70,237,866 (GRCm39) missense probably damaging 1.00
R1647:Pygl UTSW 12 70,243,784 (GRCm39) missense possibly damaging 0.60
R3082:Pygl UTSW 12 70,244,303 (GRCm39) missense probably damaging 1.00
R3845:Pygl UTSW 12 70,245,217 (GRCm39) missense probably benign 0.12
R3876:Pygl UTSW 12 70,248,113 (GRCm39) missense probably damaging 1.00
R4358:Pygl UTSW 12 70,242,464 (GRCm39) missense probably damaging 1.00
R4614:Pygl UTSW 12 70,257,753 (GRCm39) splice site probably null
R4707:Pygl UTSW 12 70,254,532 (GRCm39) missense possibly damaging 0.69
R4908:Pygl UTSW 12 70,243,807 (GRCm39) missense probably null
R4940:Pygl UTSW 12 70,253,155 (GRCm39) missense probably damaging 1.00
R5077:Pygl UTSW 12 70,248,666 (GRCm39) missense probably benign 0.14
R5186:Pygl UTSW 12 70,248,118 (GRCm39) missense probably damaging 1.00
R5726:Pygl UTSW 12 70,237,916 (GRCm39) nonsense probably null
R5953:Pygl UTSW 12 70,266,401 (GRCm39) missense probably damaging 1.00
R5957:Pygl UTSW 12 70,246,494 (GRCm39) missense probably damaging 0.99
R6020:Pygl UTSW 12 70,263,428 (GRCm39) missense probably damaging 1.00
R6024:Pygl UTSW 12 70,243,841 (GRCm39) missense probably benign 0.09
R7050:Pygl UTSW 12 70,266,396 (GRCm39) missense probably damaging 1.00
R7159:Pygl UTSW 12 70,244,180 (GRCm39) missense probably benign 0.41
R7194:Pygl UTSW 12 70,241,094 (GRCm39) missense probably benign
R7283:Pygl UTSW 12 70,263,342 (GRCm39) missense possibly damaging 0.92
R7360:Pygl UTSW 12 70,274,306 (GRCm39) missense probably benign 0.11
R7446:Pygl UTSW 12 70,243,784 (GRCm39) missense probably benign
R7637:Pygl UTSW 12 70,244,569 (GRCm39) splice site probably null
R7886:Pygl UTSW 12 70,253,130 (GRCm39) splice site probably null
R8054:Pygl UTSW 12 70,274,113 (GRCm39) critical splice donor site probably null
R8693:Pygl UTSW 12 70,244,180 (GRCm39) missense probably benign 0.41
R8753:Pygl UTSW 12 70,242,400 (GRCm39) missense probably damaging 1.00
R8803:Pygl UTSW 12 70,242,390 (GRCm39) missense probably damaging 1.00
R8842:Pygl UTSW 12 70,274,368 (GRCm39) intron probably benign
R9192:Pygl UTSW 12 70,243,822 (GRCm39) missense probably damaging 0.99
R9221:Pygl UTSW 12 70,242,401 (GRCm39) missense probably damaging 1.00
R9437:Pygl UTSW 12 70,246,925 (GRCm39) missense probably damaging 1.00
R9750:Pygl UTSW 12 70,245,303 (GRCm39) missense possibly damaging 0.68
Z1176:Pygl UTSW 12 70,269,648 (GRCm39) missense probably benign 0.09
Posted On 2014-05-07