Incidental Mutation 'R6610:Pygb'
ID 526445
Institutional Source Beutler Lab
Gene Symbol Pygb
Ensembl Gene ENSMUSG00000033059
Gene Name brain glycogen phosphorylase
Synonyms
MMRRC Submission 044733-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R6610 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 150628716-150673668 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 150665886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045441]
AlphaFold Q8CI94
Predicted Effect probably null
Transcript: ENSMUST00000045441
SMART Domains Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135717
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (42/42)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 A T 9: 21,437,561 (GRCm39) M1L probably benign Het
Adam26b T C 8: 43,974,190 (GRCm39) K271E probably damaging Het
Ankrd44 A G 1: 54,694,246 (GRCm39) I914T probably benign Het
Atp12a A G 14: 56,612,013 (GRCm39) R396G probably damaging Het
C2cd3 A G 7: 100,104,505 (GRCm39) K2173E probably benign Het
Cbx2 A G 11: 118,915,036 (GRCm39) D51G probably damaging Het
Ccdc33 T A 9: 57,976,419 (GRCm39) T532S possibly damaging Het
Ccnt1 T C 15: 98,462,982 (GRCm39) I63M probably damaging Het
Cdc20b C T 13: 113,200,796 (GRCm39) T172I probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Ces2f T G 8: 105,676,738 (GRCm39) probably null Het
Cfh A T 1: 140,029,486 (GRCm39) C597* probably null Het
Cntnap2 A T 6: 45,992,191 (GRCm39) T373S probably benign Het
Cyb5r4 T G 9: 86,941,470 (GRCm39) C64G probably benign Het
Cyp2c23 A G 19: 43,995,520 (GRCm39) F416L probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Eif4e1b A G 13: 54,932,128 (GRCm39) probably benign Het
Elp1 A G 4: 56,758,236 (GRCm39) V1227A probably benign Het
Etl4 G A 2: 20,718,180 (GRCm39) R256K probably damaging Het
Fhad1 A G 4: 141,643,707 (GRCm39) L1054P possibly damaging Het
Grik1 A G 16: 87,831,200 (GRCm39) I190T probably damaging Het
Gsdmc2 T C 15: 63,696,857 (GRCm39) N438S probably benign Het
Igkv15-103 A T 6: 68,414,617 (GRCm39) R19* probably null Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Lhcgr A T 17: 89,077,307 (GRCm39) I93K possibly damaging Het
Muc6 G C 7: 141,226,700 (GRCm39) probably benign Het
Mymk G T 2: 26,957,405 (GRCm39) S29R possibly damaging Het
Nab2 A T 10: 127,500,207 (GRCm39) I295N probably damaging Het
Neu2 A T 1: 87,524,407 (GRCm39) T131S probably benign Het
Pdcd7 T A 9: 65,261,965 (GRCm39) M129K possibly damaging Het
Ptar1 A G 19: 23,695,208 (GRCm39) H225R probably benign Het
Rpap3 T C 15: 97,586,049 (GRCm39) D314G probably benign Het
Scara3 A G 14: 66,168,670 (GRCm39) S316P probably damaging Het
Sec24a C T 11: 51,587,483 (GRCm39) V1051I probably benign Het
Setdb1 G T 3: 95,235,888 (GRCm39) A841D probably damaging Het
Stk32b G A 5: 37,606,022 (GRCm39) T407I probably benign Het
Tcte2 G A 17: 13,948,250 (GRCm39) Q10* probably null Het
Tgm2 C A 2: 157,985,020 (GRCm39) E29* probably null Het
Trim32 G A 4: 65,533,308 (GRCm39) V622M probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Vmn1r123 A G 7: 20,896,515 (GRCm39) N136D probably benign Het
Vmn2r31 A T 7: 7,387,588 (GRCm39) V661E probably damaging Het
Vmn2r85 A T 10: 130,261,838 (GRCm39) F166L probably damaging Het
Zfp426 T C 9: 20,384,389 (GRCm39) K98R probably damaging Het
Zfp534 C T 4: 147,758,947 (GRCm39) R574K 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
IGL03118:Pygb APN 2 150,662,731 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers
Posted On 2018-06-25