Incidental Mutation 'IGL03118:Pygb'
ID 409864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygb
Ensembl Gene ENSMUSG00000033059
Gene Name brain glycogen phosphorylase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # IGL03118
Quality Score
Chromosome 2
Chromosomal Location 150628716-150673668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150662731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 566 (V566E)
Ref Sequence ENSEMBL: ENSMUSP00000035743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045441]
AlphaFold Q8CI94
Predicted Effect probably benign
Transcript: ENSMUST00000045441
AA Change: V566E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: V566E

Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154366
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,619,424 (GRCm39) G921S probably benign Het
Abca8b T C 11: 109,838,007 (GRCm39) T1082A possibly damaging Het
B9d2 T C 7: 25,380,901 (GRCm39) probably null Het
Bfsp1 T C 2: 143,669,253 (GRCm39) E442G possibly damaging Het
Bpifb5 C T 2: 154,078,673 (GRCm39) probably benign Het
Ccl1 A G 11: 82,068,896 (GRCm39) I47T probably damaging Het
Cln3 T C 7: 126,174,569 (GRCm39) I285V probably null Het
Cyp4a12b G T 4: 115,290,173 (GRCm39) R242I possibly damaging Het
Dcc T C 18: 71,553,344 (GRCm39) T771A probably benign Het
Erbb4 T C 1: 68,081,878 (GRCm39) D1052G probably benign Het
Fcnb T C 2: 27,966,630 (GRCm39) N301S probably benign Het
Gm28043 A C 17: 29,853,705 (GRCm39) E403A probably damaging Het
Gria4 A G 9: 4,793,804 (GRCm39) probably benign Het
Ighv5-12 T A 12: 113,666,198 (GRCm39) M1L probably benign Het
Il17rd A G 14: 26,815,352 (GRCm39) probably null Het
Kcnn3 T A 3: 89,574,468 (GRCm39) L660Q probably damaging Het
Lcor C T 19: 41,546,808 (GRCm39) P131S probably damaging Het
Leng1 T C 7: 3,668,409 (GRCm39) N13S probably damaging Het
Loxhd1 T C 18: 77,468,160 (GRCm39) V827A probably damaging Het
Mapk13 A G 17: 28,996,709 (GRCm39) Y208C probably benign Het
Mybpc3 T C 2: 90,954,848 (GRCm39) V453A probably damaging Het
Odam T C 5: 88,033,613 (GRCm39) S15P unknown Het
Or11l3 A T 11: 58,516,269 (GRCm39) V201D probably damaging Het
Or8d1 A T 9: 38,766,526 (GRCm39) H56L probably damaging Het
Pcdhb19 T C 18: 37,632,618 (GRCm39) probably benign Het
Per2 G T 1: 91,372,341 (GRCm39) Y244* probably null Het
Pik3ca A T 3: 32,514,084 (GRCm39) I857F probably damaging Het
Pold1 T A 7: 44,188,824 (GRCm39) I447F probably benign Het
Ppm1f T A 16: 16,731,942 (GRCm39) W131R probably null Het
Ppp2r2c A G 5: 37,083,660 (GRCm39) Y67C probably damaging Het
Psmb10 A T 8: 106,663,532 (GRCm39) H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 (GRCm39) A149V probably benign Het
Rictor G A 15: 6,788,999 (GRCm39) R205Q possibly damaging Het
Ryr1 T A 7: 28,715,211 (GRCm39) R4638W unknown Het
Semp2l2a C T 8: 13,888,096 (GRCm39) probably benign Het
Septin3 G A 15: 82,168,715 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,313 (GRCm39) D198V probably benign Het
Slc27a6 C A 18: 58,689,815 (GRCm39) H94N probably benign Het
Taf2 C T 15: 54,915,559 (GRCm39) V456M probably damaging Het
Tbpl2 T C 2: 23,977,301 (GRCm39) E238G probably benign Het
Ttn C T 2: 76,584,551 (GRCm39) V20440I possibly damaging Het
Zfp638 T A 6: 83,912,000 (GRCm39) probably benign Het
Zfp865 T C 7: 5,037,644 (GRCm39) probably benign Het
Other mutations in Pygb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Pygb APN 2 150,661,833 (GRCm39) missense probably benign 0.00
IGL01395:Pygb APN 2 150,643,503 (GRCm39) missense probably benign 0.04
IGL01571:Pygb APN 2 150,672,393 (GRCm39) missense probably benign 0.00
IGL01960:Pygb APN 2 150,655,403 (GRCm39) missense probably benign 0.00
R0106:Pygb UTSW 2 150,648,123 (GRCm39) missense probably benign 0.02
R0106:Pygb UTSW 2 150,648,123 (GRCm39) missense probably benign 0.02
R0423:Pygb UTSW 2 150,665,904 (GRCm39) missense probably benign
R0545:Pygb UTSW 2 150,657,626 (GRCm39) missense probably benign 0.00
R0674:Pygb UTSW 2 150,657,054 (GRCm39) splice site probably null
R1052:Pygb UTSW 2 150,628,858 (GRCm39) missense probably benign 0.00
R1590:Pygb UTSW 2 150,659,583 (GRCm39) missense possibly damaging 0.94
R1706:Pygb UTSW 2 150,669,067 (GRCm39) missense probably damaging 1.00
R1786:Pygb UTSW 2 150,658,692 (GRCm39) missense probably damaging 0.98
R2405:Pygb UTSW 2 150,662,695 (GRCm39) missense probably benign 0.04
R3522:Pygb UTSW 2 150,670,473 (GRCm39) missense probably benign 0.07
R4082:Pygb UTSW 2 150,668,391 (GRCm39) critical splice donor site probably null
R4319:Pygb UTSW 2 150,657,534 (GRCm39) splice site probably benign
R4662:Pygb UTSW 2 150,657,036 (GRCm39) missense probably benign
R5072:Pygb UTSW 2 150,643,498 (GRCm39) missense probably damaging 1.00
R5665:Pygb UTSW 2 150,662,808 (GRCm39) splice site probably null
R5874:Pygb UTSW 2 150,628,798 (GRCm39) missense probably benign 0.11
R5910:Pygb UTSW 2 150,657,620 (GRCm39) missense probably benign 0.00
R6610:Pygb UTSW 2 150,665,886 (GRCm39) splice site probably null
R6820:Pygb UTSW 2 150,658,674 (GRCm39) missense possibly damaging 0.88
R7348:Pygb UTSW 2 150,628,903 (GRCm39) missense probably benign 0.10
R7920:Pygb UTSW 2 150,628,922 (GRCm39) missense possibly damaging 0.92
R7936:Pygb UTSW 2 150,657,589 (GRCm39) missense probably benign 0.28
R9226:Pygb UTSW 2 150,662,781 (GRCm39) missense possibly damaging 0.58
R9308:Pygb UTSW 2 150,668,297 (GRCm39) missense probably benign 0.15
R9618:Pygb UTSW 2 150,657,008 (GRCm39) missense
Posted On 2016-08-02