Incidental Mutation 'IGL02347:Pygl'
ID289343
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: 0.331) question?
Stock #IGL02347
Quality Score
Status
Chromosome12
Chromosomal Location70190811-70231488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 70201892 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 318 (G318S)
Ref Sequence ENSEMBL: ENSMUSP00000071231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071250] [ENSMUST00000161083]
Predicted Effect probably benign
Transcript: ENSMUST00000071250
AA Change: G318S

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: G318S

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161083
AA Change: G227S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: G227S

DomainStartEndE-ValueType
Pfam:Phosphorylase 21 739 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222093
Meta Mutation Damage Score 0.1353 question?
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A T 6: 96,165,530 Y178N probably damaging Het
9830107B12Rik T A 17: 48,145,664 K35* probably null Het
Adad2 G T 8: 119,616,669 G546V probably damaging Het
Bccip A G 7: 133,709,376 K7E probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Car12 T A 9: 66,764,347 V352D possibly damaging Het
Cyp2d11 G A 15: 82,390,480 R299C probably benign Het
Dnah10 A C 5: 124,833,423 probably null Het
Egf A T 3: 129,678,377 N1199K probably benign Het
Ehbp1l1 A G 19: 5,719,572 W568R possibly damaging Het
Emc3 A G 6: 113,520,572 M106T possibly damaging Het
Epp13 A G 7: 6,269,884 I79M possibly damaging Het
Fam13b T C 18: 34,454,704 K514E probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Frg2f1 A C 4: 119,530,732 L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 probably null Het
Glis3 A G 19: 28,531,883 F234L probably benign Het
Gm2035 T C 12: 87,919,589 D90G probably damaging Het
Grap2 T C 15: 80,646,356 probably benign Het
H2-M10.2 T A 17: 36,285,613 E113D probably benign Het
Itgb6 T C 2: 60,611,412 T685A probably benign Het
Mrpl19 A T 6: 81,962,011 M270K probably damaging Het
Msantd4 G T 9: 4,384,734 probably benign Het
Msr1 G T 8: 39,632,737 T34K probably damaging Het
Npc1 C T 18: 12,199,634 V780M probably benign Het
Nsun6 A G 2: 15,030,020 probably benign Het
Nt5c2 A G 19: 46,924,256 probably benign Het
Nucb2 A C 7: 116,535,878 Q340P probably benign Het
Olfr168 A G 16: 19,530,779 L47P probably damaging Het
Olfr401 C T 11: 74,121,571 T94I probably benign Het
Osgin1 A G 8: 119,445,538 E357G probably benign Het
Pabpc6 C T 17: 9,669,064 R186K probably benign Het
Pex1 A G 5: 3,603,350 K83R probably damaging Het
Ppid A G 3: 79,595,219 I82V probably benign Het
Rcn1 A T 2: 105,399,126 V27E probably benign Het
Rnaseh1 A T 12: 28,657,630 probably benign Het
Rnf148 A G 6: 23,654,730 V89A probably benign Het
Siglecf G A 7: 43,351,721 V38I possibly damaging Het
Slc13a5 T C 11: 72,258,954 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Sos2 A T 12: 69,596,746 D953E probably benign Het
Strbp A C 2: 37,645,648 V16G probably benign Het
Sycp1 A T 3: 102,893,547 M567K probably benign Het
Tedc2 A C 17: 24,220,610 V19G probably damaging Het
Tjp1 A G 7: 65,301,064 probably null Het
Ttn A T 2: 76,709,220 V26147E probably damaging Het
Vmn1r86 A G 7: 13,102,647 S51P probably damaging Het
Vmn2r83 A G 10: 79,480,233 T488A possibly damaging Het
Zfp541 A G 7: 16,083,465 Y945C probably damaging 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
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
IGL03202:Pygl APN 12 70199646 missense probably benign
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
R7360:Pygl UTSW 12 70227532 missense probably benign 0.11
R7446:Pygl UTSW 12 70197010 missense probably benign
Posted On2015-04-16