Incidental Mutation 'IGL02403:Pygl'
ID 291965
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 # IGL02403
Quality Score
Status
Chromosome 12
Chromosomal Location 70237589-70274457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70241032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 672 (I672F)
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: I763F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: I763F

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161083
AA Change: I672F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: I672F

DomainStartEndE-ValueType
Pfam:Phosphorylase 21 739 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162613
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,755,227 (GRCm39) probably null Het
Alk C A 17: 72,208,388 (GRCm39) G944V probably damaging Het
Alox15 T C 11: 70,236,727 (GRCm39) D446G probably damaging Het
Apof A G 10: 128,105,353 (GRCm39) probably null Het
Arhgap28 T G 17: 68,180,154 (GRCm39) D81A possibly damaging Het
Bltp1 T C 3: 37,084,813 (GRCm39) S3922P probably benign Het
Bms1 T C 6: 118,382,185 (GRCm39) E451G possibly damaging Het
C9orf72 A G 4: 35,205,887 (GRCm39) probably benign Het
Capn13 T A 17: 73,658,421 (GRCm39) T216S possibly damaging Het
Ccdc28a A T 10: 18,089,931 (GRCm39) probably benign Het
Cdip1 T C 16: 4,586,676 (GRCm39) T150A probably damaging Het
Chrnb3 T A 8: 27,883,836 (GRCm39) L191Q probably damaging Het
Chst2 G A 9: 95,287,285 (GRCm39) Q354* probably null Het
Cldn11 T C 3: 31,204,345 (GRCm39) V16A probably benign Het
Cyp4f18 A G 8: 72,752,072 (GRCm39) M198T probably damaging Het
Dhx30 A G 9: 109,920,587 (GRCm39) L280P probably damaging Het
Disc1 A G 8: 125,862,258 (GRCm39) probably benign Het
Dnm1l T C 16: 16,154,840 (GRCm39) I172V possibly damaging Het
Edem2 T C 2: 155,550,983 (GRCm39) D328G possibly damaging Het
Fbxo10 G A 4: 45,062,517 (GRCm39) T3M probably benign Het
Fdxacb1 T A 9: 50,682,863 (GRCm39) S275R possibly damaging Het
Gm7275 C A 16: 47,893,991 (GRCm39) noncoding transcript Het
Helz2 A T 2: 180,872,815 (GRCm39) I2468N probably damaging Het
Ift46 C A 9: 44,698,176 (GRCm39) P213Q probably damaging Het
Ift56 A G 6: 38,386,373 (GRCm39) M365V possibly damaging Het
Irf2 G T 8: 47,299,207 (GRCm39) V334F probably damaging Het
Lrp4 T A 2: 91,338,927 (GRCm39) V1786E probably benign Het
Mfsd5 A G 15: 102,188,973 (GRCm39) Y115C probably benign Het
Muc5ac A G 7: 141,357,187 (GRCm39) R1154G possibly damaging Het
Nek4 G T 14: 30,686,008 (GRCm39) E314* probably null Het
Oas2 C T 5: 120,886,815 (GRCm39) G117D possibly damaging Het
Or8j3b A T 2: 86,204,867 (GRCm39) D296E probably benign Het
Pikfyve C T 1: 65,283,663 (GRCm39) H767Y probably damaging Het
Pkhd1 T C 1: 20,632,642 (GRCm39) H591R probably benign Het
Rft1 G T 14: 30,382,278 (GRCm39) probably benign Het
Ripor3 A C 2: 167,831,250 (GRCm39) L517R probably damaging Het
Serpina3b A G 12: 104,096,721 (GRCm39) M1V probably null Het
Sgce C T 6: 4,694,059 (GRCm39) R263Q probably damaging Het
Stard6 A T 18: 70,629,183 (GRCm39) probably null Het
Them4 T C 3: 94,230,978 (GRCm39) F117L probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Vmn2r116 G T 17: 23,606,338 (GRCm39) D417Y probably 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
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
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 2015-04-16