Incidental Mutation 'IGL02501:Pygl'
ID 296042
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 non essential (E-score: 0.387) question?
Stock # IGL02501
Quality Score
Status
Chromosome 12
Chromosomal Location 70190811-70231488 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70191134 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 801 (M801T)
Ref Sequence ENSEMBL: ENSMUSP00000071231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071250] [ENSMUST00000161083]
AlphaFold Q9ET01
Predicted Effect probably benign
Transcript: ENSMUST00000071250
AA Change: M801T

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: M801T

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161083
AA Change: M710T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: M710T

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,083,340 I307F probably damaging Het
Adam15 G A 3: 89,340,462 A789V possibly damaging Het
Bspry A G 4: 62,496,435 T422A probably benign Het
Btnl6 T A 17: 34,515,674 D38V possibly damaging Het
Cd59b G A 2: 104,078,928 C18Y probably damaging Het
Clstn1 T G 4: 149,631,842 I255R probably damaging Het
Dpp10 A G 1: 123,686,270 L99P possibly damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Emc1 A T 4: 139,370,984 T759S probably benign Het
Fam126b C A 1: 58,540,191 R229L probably damaging Het
Fndc1 C T 17: 7,765,398 G1232E unknown Het
Gjb3 C T 4: 127,326,364 G125D probably damaging Het
Helb A G 10: 120,102,788 S594P possibly damaging Het
Ildr1 T C 16: 36,722,350 S371P probably damaging Het
Kif1b T A 4: 149,214,976 R946W probably damaging Het
Lrp12 T C 15: 39,877,904 T472A probably damaging Het
Lyst A G 13: 13,711,645 D3031G probably benign Het
Med12l A T 3: 59,261,976 T1596S possibly damaging Het
Myom1 A C 17: 71,072,081 probably null Het
Nhlrc2 T A 19: 56,570,654 Y190* probably null Het
Nol4 A T 18: 22,823,341 N115K probably damaging Het
Nrg1 T A 8: 31,818,263 probably null Het
Olfr844 T A 9: 19,318,703 H56Q probably damaging Het
Oxld1 A C 11: 120,456,888 L161R probably damaging Het
Phex A G X: 157,186,275 S568P probably damaging Het
Pkd1 T G 17: 24,569,699 S810R probably benign Het
Plin2 G T 4: 86,664,486 C84* probably null Het
Ppfia3 A T 7: 45,354,938 probably benign Het
Ptpn14 A G 1: 189,850,390 N478S probably benign Het
Recql5 A G 11: 115,895,091 Y619H probably benign Het
Scn3a C A 2: 65,526,555 D182Y possibly damaging Het
Serpinb6e T C 13: 33,832,802 E316G possibly damaging Het
Shroom4 A G X: 6,583,944 E386G possibly damaging Het
Slc4a2 A G 5: 24,429,434 S24G probably benign Het
Slc4a4 A G 5: 89,129,649 I282V probably benign Het
Slc8b1 C T 5: 120,520,853 R148C probably damaging Het
Stag2 A G X: 42,271,325 probably benign Het
Styx T A 14: 45,372,465 H195Q probably benign Het
Sufu A G 19: 46,450,910 I190V probably benign Het
Svep1 A G 4: 58,145,341 probably benign Het
Tbc1d31 T C 15: 57,937,948 I293T probably benign Het
Timp4 T A 6: 115,246,483 I160F probably damaging Het
Tmem87a A T 2: 120,404,053 V3E probably damaging Het
Utp4 T A 8: 106,906,241 H285Q probably benign Het
Vrk1 T G 12: 106,062,653 S305A probably benign Het
Zfp329 G T 7: 12,811,179 H139Q possibly 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
IGL02347:Pygl APN 12 70201892 missense probably benign 0.14
IGL02403:Pygl APN 12 70194258 missense probably benign
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 splice site 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
R7637:Pygl UTSW 12 70197795 splice site probably null
R7886:Pygl UTSW 12 70206356 splice site probably null
R8054:Pygl UTSW 12 70227339 critical splice donor site probably null
R8693:Pygl UTSW 12 70197406 missense probably benign 0.41
R8753:Pygl UTSW 12 70195626 missense probably damaging 1.00
R8803:Pygl UTSW 12 70195616 missense probably damaging 1.00
R8842:Pygl UTSW 12 70227594 intron probably benign
R9192:Pygl UTSW 12 70197048 missense probably damaging 0.99
R9221:Pygl UTSW 12 70195627 missense probably damaging 1.00
R9437:Pygl UTSW 12 70200151 missense probably damaging 1.00
R9750:Pygl UTSW 12 70198529 missense possibly damaging 0.68
Z1176:Pygl UTSW 12 70222874 missense probably benign 0.09
Posted On 2015-04-16