Incidental Mutation 'IGL03202:Pygl'
ID413031
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygl
Ensembl Gene ENSMUSG00000021069
Gene Nameliver glycogen phosphorylase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.385) question?
Stock #IGL03202
Quality Score
Status
Chromosome12
Chromosomal Location70190811-70231488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 70199646 bp
ZygosityHeterozygous
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]
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: 87,074,047 M1T probably null Het
2810474O19Rik G A 6: 149,326,439 V328I probably benign Het
Ace T A 11: 105,976,962 I168N probably damaging Het
Actr10 T G 12: 70,940,831 C37W probably damaging Het
Atp10b T C 11: 43,234,441 probably null Het
Bend5 A G 4: 111,433,244 N146D possibly damaging Het
Cacna1b A G 2: 24,651,112 F1347L probably damaging Het
Crybg3 T A 16: 59,494,709 I2910F probably damaging Het
Cspg4 T C 9: 56,897,739 S1945P possibly damaging Het
Cxcr4 T G 1: 128,588,904 K340T probably damaging Het
Dnah6 T A 6: 73,144,700 Y1433F probably damaging Het
Eif2ak4 T C 2: 118,400,620 V77A probably damaging Het
Fscn3 A T 6: 28,434,452 H342L probably benign Het
Gm884 T A 11: 103,615,373 E1923V probably benign Het
Gm9843 T C 16: 76,403,346 noncoding transcript Het
Hdac9 T C 12: 34,373,951 E520G probably damaging Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Itpa T A 2: 130,667,939 probably benign Het
Lce1l A T 3: 92,850,324 C76S unknown Het
Lin54 A G 5: 100,475,814 S55P possibly damaging Het
Mtfmt C A 9: 65,448,726 P303Q probably damaging Het
Nae1 A T 8: 104,518,179 probably benign Het
Ncapd3 T A 9: 27,071,715 probably benign Het
Olfr381 G A 11: 73,486,525 Q100* probably null Het
Olfr525 A G 7: 140,323,106 M136V possibly damaging Het
Pcnx2 A C 8: 125,772,044 I1572S probably damaging Het
Piezo2 A T 18: 63,011,598 Y2809N probably damaging Het
Rrp12 T C 19: 41,868,766 probably null Het
Sephs1 A T 2: 4,889,263 I92F possibly damaging Het
Taar4 T C 10: 23,960,794 F101L probably damaging Het
Tenm2 A G 11: 36,024,548 I2053T probably damaging Het
Tgfbr3 T G 5: 107,109,764 probably benign Het
Vmn2r108 A T 17: 20,471,057 Y401* probably null Het
Vmn2r87 A G 10: 130,497,222 M53T probably benign Het
Zfp941 A G 7: 140,813,053 V131A probably benign Het
Other mutations in Pygl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Pygl APN 12 70191092 missense probably damaging 1.00
IGL00903:Pygl APN 12 70207742 missense probably damaging 1.00
IGL01965:Pygl APN 12 70191114 missense probably benign 0.00
IGL02347:Pygl APN 12 70201892 missense probably benign 0.14
IGL02403:Pygl APN 12 70194258 missense probably benign
IGL02501:Pygl APN 12 70191134 missense probably benign 0.05
IGL02727:Pygl APN 12 70207668 splice site probably null
IGL03125:Pygl APN 12 70197482 missense probably damaging 1.00
IGL03158:Pygl APN 12 70195675 missense probably damaging 1.00
IGL03368:Pygl APN 12 70191152 missense probably benign
R0096:Pygl UTSW 12 70191166 splice site probably benign
R0096:Pygl UTSW 12 70191166 splice site probably benign
R0524:Pygl UTSW 12 70207724 missense probably damaging 1.00
R0883:Pygl UTSW 12 70206404 missense probably damaging 0.97
R0894:Pygl UTSW 12 70194374 splice site probably benign
R0905:Pygl UTSW 12 70211017 splice site probably benign
R1494:Pygl UTSW 12 70199730 missense probably damaging 0.98
R1621:Pygl UTSW 12 70191092 missense probably damaging 1.00
R1647:Pygl UTSW 12 70197010 missense possibly damaging 0.60
R3082:Pygl UTSW 12 70197529 missense probably damaging 1.00
R3845:Pygl UTSW 12 70198443 missense probably benign 0.12
R3876:Pygl UTSW 12 70201339 missense probably damaging 1.00
R4358:Pygl UTSW 12 70195690 missense probably damaging 1.00
R4614:Pygl UTSW 12 70210979 intron probably null
R4707:Pygl UTSW 12 70207758 missense possibly damaging 0.69
R4908:Pygl UTSW 12 70197033 missense probably null
R4940:Pygl UTSW 12 70206381 missense probably damaging 1.00
R5077:Pygl UTSW 12 70201892 missense probably benign 0.14
R5186:Pygl UTSW 12 70201344 missense probably damaging 1.00
R5726:Pygl UTSW 12 70191142 nonsense probably null
R5953:Pygl UTSW 12 70219627 missense probably damaging 1.00
R5957:Pygl UTSW 12 70199720 missense probably damaging 0.99
R6020:Pygl UTSW 12 70216654 missense probably damaging 1.00
R6024:Pygl UTSW 12 70197067 missense probably benign 0.09
R7050:Pygl UTSW 12 70219622 missense probably damaging 1.00
R7159:Pygl UTSW 12 70197406 missense probably benign 0.41
R7194:Pygl UTSW 12 70194320 missense probably benign
R7283:Pygl UTSW 12 70216568 missense possibly damaging 0.92
Posted On2016-08-02