Incidental Mutation 'R9750:Pygl'
ID 732481
Institutional Source Beutler Lab
Gene Symbol Pygl
Ensembl Gene ENSMUSG00000021069
Gene Name liver glycogen phosphorylase
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.387) question?
Stock # R9750 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 70190811-70231488 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 70198529 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 473 (S473R)
Ref Sequence ENSEMBL: ENSMUSP00000071231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071250] [ENSMUST00000161083]
AlphaFold Q9ET01
Predicted Effect possibly damaging
Transcript: ENSMUST00000071250
AA Change: S473R

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: S473R

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161083
AA Change: S382R

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: S382R

DomainStartEndE-ValueType
Pfam:Phosphorylase 21 739 N/A PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.2%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 G T 11: 50,603,506 V136L probably benign Het
Adamtsl3 G T 7: 82,595,381 L1348F probably benign Het
Amotl1 T A 9: 14,592,806 T369S probably benign Het
Anapc2 T G 2: 25,284,970 V700G possibly damaging Het
Aox3 C T 1: 58,176,489 Q1027* probably null Het
Ap5m1 A G 14: 49,080,299 T338A probably benign Het
Carf T A 1: 60,131,999 Y240* probably null Het
Ccl21a G A 4: 42,773,875 A15V probably benign Het
Dcst1 A T 3: 89,354,155 I429N probably damaging Het
Esco1 A G 18: 10,594,510 S259P probably benign Het
Esp15 A G 17: 39,644,712 M57V probably benign Het
Fat3 A G 9: 16,003,861 I1597T probably benign Het
Fbxo38 T C 18: 62,540,990 S7G probably benign Het
Gm11562 G A 11: 99,620,030 P115S unknown Het
Hectd4 A T 5: 121,310,681 Y364F probably benign Het
Kansl1l G C 1: 66,777,991 I403M probably benign Het
Kmt2a T C 9: 44,836,202 H1505R unknown Het
Krt79 T G 15: 101,930,761 E424D probably benign Het
Lpgat1 T A 1: 191,778,475 F391I probably benign Het
Ltbr G A 6: 125,307,385 R365W probably damaging Het
Mon1a T A 9: 107,901,579 V334E probably damaging Het
Ngef G A 1: 87,503,288 P269L probably damaging Het
Nup210l A T 3: 90,210,352 probably null Het
Obscn G A 11: 59,133,856 R453W probably benign Het
Olfr412 A G 11: 74,365,032 D121G possibly damaging Het
Pdzd8 A G 19: 59,301,252 V572A probably benign Het
Pgr T C 9: 8,901,917 S484P possibly damaging Het
Samd1 T C 8: 83,999,360 V410A probably damaging Het
Serpina3j T G 12: 104,314,683 H38Q probably benign Het
Shprh A G 10: 11,164,460 Y559C probably damaging Het
Skint5 T A 4: 113,870,669 D426V unknown Het
Slc25a21 T C 12: 56,738,597 K158R probably benign Het
Smc1b A T 15: 85,131,905 N11K probably damaging Het
St18 T C 1: 6,802,992 V317A probably benign Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,301,649 probably benign Het
Tcap A G 11: 98,384,402 T121A probably benign Het
Tgs1 C A 4: 3,585,869 Q249K probably damaging Het
Tiam1 A T 16: 89,898,506 L21Q probably damaging Het
Tmem131l G A 3: 83,924,051 A858V probably damaging Het
Trpm3 G A 19: 22,926,131 R927H probably benign Het
Wdfy3 T A 5: 101,930,094 H870L probably benign Het
Zfp518a T A 19: 40,915,445 C1273S possibly damaging Het
Zfp960 A T 17: 17,087,636 H204L probably damaging Het
Other mutations in Pygl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Pygl APN 12 70191092 missense probably damaging 1.00
IGL00903:Pygl APN 12 70207742 missense probably damaging 1.00
IGL01965:Pygl APN 12 70191114 missense probably benign 0.00
IGL02347:Pygl APN 12 70201892 missense probably benign 0.14
IGL02403:Pygl APN 12 70194258 missense probably benign
IGL02501:Pygl APN 12 70191134 missense probably benign 0.05
IGL02727:Pygl APN 12 70207668 splice site probably null
IGL03125:Pygl APN 12 70197482 missense probably damaging 1.00
IGL03158:Pygl APN 12 70195675 missense probably damaging 1.00
IGL03202:Pygl APN 12 70199646 missense probably benign
IGL03368:Pygl APN 12 70191152 missense probably benign
R0096:Pygl UTSW 12 70191166 splice site probably benign
R0096:Pygl UTSW 12 70191166 splice site probably benign
R0524:Pygl UTSW 12 70207724 missense probably damaging 1.00
R0883:Pygl UTSW 12 70206404 missense probably damaging 0.97
R0894:Pygl UTSW 12 70194374 splice site probably benign
R0905:Pygl UTSW 12 70211017 splice site probably benign
R1494:Pygl UTSW 12 70199730 missense probably damaging 0.98
R1621:Pygl UTSW 12 70191092 missense probably damaging 1.00
R1647:Pygl UTSW 12 70197010 missense possibly damaging 0.60
R3082:Pygl UTSW 12 70197529 missense probably damaging 1.00
R3845:Pygl UTSW 12 70198443 missense probably benign 0.12
R3876:Pygl UTSW 12 70201339 missense probably damaging 1.00
R4358:Pygl UTSW 12 70195690 missense probably damaging 1.00
R4614:Pygl UTSW 12 70210979 splice site probably null
R4707:Pygl UTSW 12 70207758 missense possibly damaging 0.69
R4908:Pygl UTSW 12 70197033 missense probably null
R4940:Pygl UTSW 12 70206381 missense probably damaging 1.00
R5077:Pygl UTSW 12 70201892 missense probably benign 0.14
R5186:Pygl UTSW 12 70201344 missense probably damaging 1.00
R5726:Pygl UTSW 12 70191142 nonsense probably null
R5953:Pygl UTSW 12 70219627 missense probably damaging 1.00
R5957:Pygl UTSW 12 70199720 missense probably damaging 0.99
R6020:Pygl UTSW 12 70216654 missense probably damaging 1.00
R6024:Pygl UTSW 12 70197067 missense probably benign 0.09
R7050:Pygl UTSW 12 70219622 missense probably damaging 1.00
R7159:Pygl UTSW 12 70197406 missense probably benign 0.41
R7194:Pygl UTSW 12 70194320 missense probably benign
R7283:Pygl UTSW 12 70216568 missense possibly damaging 0.92
R7360:Pygl UTSW 12 70227532 missense probably benign 0.11
R7446:Pygl UTSW 12 70197010 missense probably benign
R7637:Pygl UTSW 12 70197795 splice site probably null
R7886:Pygl UTSW 12 70206356 splice site probably null
R8054:Pygl UTSW 12 70227339 critical splice donor site probably null
R8693:Pygl UTSW 12 70197406 missense probably benign 0.41
R8753:Pygl UTSW 12 70195626 missense probably damaging 1.00
R8803:Pygl UTSW 12 70195616 missense probably damaging 1.00
R8842:Pygl UTSW 12 70227594 intron probably benign
R9192:Pygl UTSW 12 70197048 missense probably damaging 0.99
R9221:Pygl UTSW 12 70195627 missense probably damaging 1.00
R9437:Pygl UTSW 12 70200151 missense probably damaging 1.00
Z1176:Pygl UTSW 12 70222874 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- ACAGGTAGGATCTGCCACACAC -3'
(R):5'- CTCTTTGTCACAGTCAGGAAGTC -3'

Sequencing Primer
(F):5'- GATCTGCCACACACCTCCATTTG -3'
(R):5'- CTTTGTCACAGTCAGGAAGTCAGATG -3'
Posted On 2022-11-14