Incidental Mutation 'R4319:Pygb'
ID 324124
Institutional Source Beutler Lab
Gene Symbol Pygb
Ensembl Gene ENSMUSG00000033059
Gene Name brain glycogen phosphorylase
Synonyms
MMRRC Submission 041660-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R4319 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 150628716-150673668 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 150657534 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 benign
Transcript: ENSMUST00000045441
SMART Domains Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154366
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 94% (31/33)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn7l2 A T 3: 108,113,148 (GRCm39) D218E probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Cacna1c A C 6: 118,631,330 (GRCm39) I1148S probably damaging Het
Ccdc178 T A 18: 22,166,600 (GRCm39) K530* probably null Het
Ccdc191 A G 16: 43,767,872 (GRCm39) E624G probably damaging Het
Cep290 A C 10: 100,374,909 (GRCm39) H1385P probably benign Het
Chrd A G 16: 20,555,798 (GRCm39) H545R probably damaging Het
Dgkb A G 12: 38,488,598 (GRCm39) I655V probably damaging Het
Gm2663 G T 6: 40,974,530 (GRCm39) Q87K probably damaging Het
Itsn1 G A 16: 91,615,440 (GRCm39) probably benign Het
Kif11 T C 19: 37,373,033 (GRCm39) V84A probably damaging Het
Klf2 A G 8: 73,074,005 (GRCm39) T270A probably benign Het
Lemd2 A G 17: 27,420,651 (GRCm39) M254T possibly damaging Het
Luc7l A T 17: 26,496,593 (GRCm39) probably benign Het
Mapk11 T C 15: 89,030,946 (GRCm39) E71G probably damaging Het
Mcoln2 G A 3: 145,855,766 (GRCm39) probably null Het
Or2y1f G A 11: 49,184,503 (GRCm39) M118I probably damaging Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sox6 A G 7: 115,179,798 (GRCm39) probably null Het
Spty2d1 T C 7: 46,647,883 (GRCm39) S349G probably damaging Het
Srbd1 A T 17: 86,358,578 (GRCm39) V657D probably damaging Het
Tspo2 G T 17: 48,756,871 (GRCm39) probably benign Het
Ufsp2 A G 8: 46,448,664 (GRCm39) T422A possibly damaging Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Wdr46 A G 17: 34,159,718 (GRCm39) T3A 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
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
Predicted Primers PCR Primer
(F):5'- TCACCTTCTCAGAGCAGAGC -3'
(R):5'- AGCTTGAAGTCTAACGAGGATG -3'

Sequencing Primer
(F):5'- AGAGCTGCTCTTGGGACACATC -3'
(R):5'- CTTGAAGTCTAACGAGGATGCCATC -3'
Posted On 2015-06-24