Incidental Mutation 'IGL03202:Pygl'
ID 413031
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 # IGL03202
Quality Score
Status
Chromosome 12
Chromosomal Location 70237589-70274457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 70246420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 376 (Q376K)
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: Q467K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: Q467K

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161083
AA Change: Q376K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: Q376K

DomainStartEndE-ValueType
Pfam:Phosphorylase 21 739 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222093
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 86,909,911 (GRCm39) M1T probably null Het
Ace T A 11: 105,867,788 (GRCm39) I168N probably damaging Het
Actr10 T G 12: 70,987,605 (GRCm39) C37W probably damaging Het
Atp10b T C 11: 43,125,268 (GRCm39) probably null Het
Bend5 A G 4: 111,290,441 (GRCm39) N146D possibly damaging Het
Cacna1b A G 2: 24,541,124 (GRCm39) F1347L probably damaging Het
Crybg3 T A 16: 59,315,072 (GRCm39) I2910F probably damaging Het
Cspg4 T C 9: 56,805,023 (GRCm39) S1945P possibly damaging Het
Cxcr4 T G 1: 128,516,641 (GRCm39) K340T probably damaging Het
Dnah6 T A 6: 73,121,683 (GRCm39) Y1433F probably damaging Het
Eif2ak4 T C 2: 118,231,101 (GRCm39) V77A probably damaging Het
Fscn3 A T 6: 28,434,451 (GRCm39) H342L probably benign Het
Gm9843 T C 16: 76,200,234 (GRCm39) noncoding transcript Het
Hdac9 T C 12: 34,423,950 (GRCm39) E520G probably damaging Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Itpa T A 2: 130,509,859 (GRCm39) probably benign Het
Lce1l A T 3: 92,757,631 (GRCm39) C76S unknown Het
Lin54 A G 5: 100,623,673 (GRCm39) S55P possibly damaging Het
Lrrc37 T A 11: 103,506,199 (GRCm39) E1923V probably benign Het
Mtfmt C A 9: 65,356,008 (GRCm39) P303Q probably damaging Het
Nae1 A T 8: 105,244,811 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,983,011 (GRCm39) probably benign Het
Or13a19 A G 7: 139,903,019 (GRCm39) M136V possibly damaging Het
Or1e22 G A 11: 73,377,351 (GRCm39) Q100* probably null Het
Pcnx2 A C 8: 126,498,783 (GRCm39) I1572S probably damaging Het
Piezo2 A T 18: 63,144,669 (GRCm39) Y2809N probably damaging Het
Resf1 G A 6: 149,227,937 (GRCm39) V328I probably benign Het
Rrp12 T C 19: 41,857,205 (GRCm39) probably null Het
Sephs1 A T 2: 4,894,074 (GRCm39) I92F possibly damaging Het
Taar4 T C 10: 23,836,692 (GRCm39) F101L probably damaging Het
Tenm2 A G 11: 35,915,375 (GRCm39) I2053T probably damaging Het
Tgfbr3 T G 5: 107,257,630 (GRCm39) probably benign Het
Vmn2r108 A T 17: 20,691,319 (GRCm39) Y401* probably null Het
Vmn2r87 A G 10: 130,333,091 (GRCm39) M53T probably benign Het
Zfp941 A G 7: 140,392,966 (GRCm39) V131A probably benign 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
IGL01965:Pygl APN 12 70,237,888 (GRCm39) missense probably benign 0.00
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
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 2016-08-02