Incidental Mutation 'IGL01571:Pygb'
ID 93293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygb
Ensembl Gene ENSMUSG00000033059
Gene Name brain glycogen phosphorylase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL01571
Quality Score
Status
Chromosome 2
Chromosomal Location 150786735-150831758 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150830473 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 831 (S831P)
Ref Sequence ENSEMBL: ENSMUSP00000035743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045441] [ENSMUST00000056149] [ENSMUST00000141899]
AlphaFold Q8CI94
Predicted Effect probably benign
Transcript: ENSMUST00000045441
AA Change: S831P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: S831P

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056149
SMART Domains Protein: ENSMUSP00000053558
Gene: ENSMUSG00000032046

DomainStartEndE-ValueType
low complexity region 15 36 N/A INTRINSIC
transmembrane domain 68 90 N/A INTRINSIC
Pfam:Hydrolase_4 165 297 1.2e-16 PFAM
Pfam:Abhydrolase_1 169 302 1.6e-13 PFAM
Pfam:Abhydrolase_5 170 359 2.5e-22 PFAM
Pfam:Abhydrolase_6 171 363 1.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135717
Predicted Effect probably benign
Transcript: ENSMUST00000141899
SMART Domains Protein: ENSMUSP00000122763
Gene: ENSMUSG00000032046

DomainStartEndE-ValueType
low complexity region 15 36 N/A INTRINSIC
transmembrane domain 68 90 N/A INTRINSIC
Pfam:Abhydrolase_5 170 295 1.9e-16 PFAM
Pfam:Abhydrolase_6 171 293 3.8e-15 PFAM
Pfam:Abhydrolase_3 171 295 1.1e-6 PFAM
Pfam:Abhydrolase_1 198 271 1.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156641
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,081 probably benign Het
Cep164 T C 9: 45,794,338 Q127R possibly damaging Het
Ces1f T A 8: 93,258,368 M444L probably benign Het
Chd5 T A 4: 152,384,115 probably benign Het
Cpd T A 11: 76,782,296 Y1341F probably damaging Het
Cryz T C 3: 154,621,743 I268T probably damaging Het
Csnk2a1 G A 2: 152,275,406 R278H probably damaging Het
Cyp4a12b A G 4: 115,438,157 I487V probably benign Het
Dnajb5 T C 4: 42,956,516 probably benign Het
Dxo A T 17: 34,839,040 H214L probably damaging Het
Etfb T C 7: 43,452,959 probably null Het
G6pc2 G A 2: 69,222,967 V122I probably damaging Het
Gm5431 A T 11: 48,894,713 D278E probably benign Het
Gstt2 C T 10: 75,834,171 probably benign Het
Hnf4g A C 3: 3,651,266 probably benign Het
Ifi44 T C 3: 151,745,537 D259G probably damaging Het
Klk1 T C 7: 44,228,596 V92A probably damaging Het
Lypla1 T C 1: 4,844,988 I222T probably benign Het
Nbeal2 T C 9: 110,632,758 N1510D possibly damaging Het
Ndufaf7 A G 17: 78,943,852 R229G probably damaging Het
Nphp4 G A 4: 152,556,382 V1069M probably benign Het
Nsd2 A G 5: 33,864,687 H528R probably benign Het
Olfr1298 C A 2: 111,645,380 V206L probably benign Het
Olfr1355 A G 10: 78,879,837 I222V possibly damaging Het
Olfr763 A T 10: 129,011,827 I181F probably damaging Het
Pigh A C 12: 79,085,860 probably benign Het
Prr14l A T 5: 32,828,806 M1115K probably benign Het
Psg21 T C 7: 18,654,825 D114G probably damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ryr2 T A 13: 11,721,761 D2260V probably damaging Het
Sgo2a T C 1: 58,017,974 S1106P probably damaging Het
Slc5a5 G A 8: 70,891,332 probably benign Het
Tekt4 A G 17: 25,476,384 D397G probably benign Het
Trrap T A 5: 144,833,287 probably benign Het
Upf2 T C 2: 6,018,939 probably benign Het
Usp17lb A T 7: 104,840,381 N445K possibly damaging Het
Vmn2r111 A G 17: 22,571,392 V211A probably damaging Het
Vmn2r23 A G 6: 123,704,407 I91M probably damaging Het
Vps13b C T 15: 35,877,489 probably benign Het
Zc3hc1 G A 6: 30,390,863 T47I probably benign Het
Other mutations in Pygb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Pygb APN 2 150819913 missense probably benign 0.00
IGL01395:Pygb APN 2 150801583 missense probably benign 0.04
IGL01960:Pygb APN 2 150813483 missense probably benign 0.00
IGL03118:Pygb APN 2 150820811 missense probably benign 0.01
R0106:Pygb UTSW 2 150806203 missense probably benign 0.02
R0106:Pygb UTSW 2 150806203 missense probably benign 0.02
R0423:Pygb UTSW 2 150823984 missense probably benign
R0545:Pygb UTSW 2 150815706 missense probably benign 0.00
R0674:Pygb UTSW 2 150815134 splice site probably null
R1052:Pygb UTSW 2 150786938 missense probably benign 0.00
R1590:Pygb UTSW 2 150817663 missense possibly damaging 0.94
R1706:Pygb UTSW 2 150827147 missense probably damaging 1.00
R1786:Pygb UTSW 2 150816772 missense probably damaging 0.98
R2405:Pygb UTSW 2 150820775 missense probably benign 0.04
R3522:Pygb UTSW 2 150828553 missense probably benign 0.07
R4082:Pygb UTSW 2 150826471 critical splice donor site probably null
R4319:Pygb UTSW 2 150815614 splice site probably benign
R4662:Pygb UTSW 2 150815116 missense probably benign
R5072:Pygb UTSW 2 150801578 missense probably damaging 1.00
R5665:Pygb UTSW 2 150820888 splice site probably null
R5874:Pygb UTSW 2 150786878 missense probably benign 0.11
R5910:Pygb UTSW 2 150815700 missense probably benign 0.00
R6610:Pygb UTSW 2 150823966 splice site probably null
R6820:Pygb UTSW 2 150816754 missense possibly damaging 0.88
R7348:Pygb UTSW 2 150786983 missense probably benign 0.10
R7920:Pygb UTSW 2 150787002 missense possibly damaging 0.92
R7936:Pygb UTSW 2 150815669 missense probably benign 0.28
R9226:Pygb UTSW 2 150820861 missense possibly damaging 0.58
R9308:Pygb UTSW 2 150826377 missense probably benign 0.15
Posted On 2013-12-09