Incidental Mutation 'IGL01395:Pygb'
ID 79383
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 # IGL01395
Quality Score
Chromosome 2
Chromosomal Location 150628716-150673668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 150643503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 97 (Q97K)
Ref Sequence ENSEMBL: ENSMUSP00000035743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045441]
AlphaFold Q8CI94
Predicted Effect probably benign
Transcript: ENSMUST00000045441
AA Change: Q97K

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: Q97K

Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139938
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Pygb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Pygb APN 2 150,661,833 (GRCm39) missense probably benign 0.00
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
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 2013-11-05