Incidental Mutation 'R0799:Pygm'
ID 76561
Institutional Source Beutler Lab
Gene Symbol Pygm
Ensembl Gene ENSMUSG00000032648
Gene Name muscle glycogen phosphorylase
Synonyms PG
MMRRC Submission 038979-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0799 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6434438-6448494 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 6436048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035269] [ENSMUST00000113483]
AlphaFold Q9WUB3
Predicted Effect probably benign
Transcript: ENSMUST00000035269
SMART Domains Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113483
SMART Domains Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648

DomainStartEndE-ValueType
Pfam:Phosphorylase 62 742 N/A PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: This gene encodes a glycolysis enzyme found in muscle. Highly similar enzymes encoded by different genes are found in liver and brain. The encoded protein is involved in regulating the breakdown of glycogen to glucose-1-phosphate, which is necessary for ATP generation. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,100,101 (GRCm39) T33I possibly damaging Het
4930555F03Rik A G 8: 49,948,474 (GRCm39) noncoding transcript Het
Abcf3 T C 16: 20,378,084 (GRCm39) L538P probably damaging Het
Adamts6 T C 13: 104,450,779 (GRCm39) S321P probably damaging Het
Adgra2 G A 8: 27,602,523 (GRCm39) R362H probably damaging Het
AI597479 T G 1: 43,150,330 (GRCm39) S147A probably benign Het
Ajm1 A G 2: 25,468,574 (GRCm39) S446P possibly damaging Het
Ampd3 T C 7: 110,399,904 (GRCm39) F340L probably damaging Het
Atad3a A G 4: 155,831,927 (GRCm39) V449A probably damaging Het
Bmal2 T C 6: 146,724,751 (GRCm39) probably benign Het
Bpifa6 A T 2: 153,834,192 (GRCm39) D328V probably benign Het
Brca2 T C 5: 150,483,658 (GRCm39) S2903P probably damaging Het
Cct3 A T 3: 88,206,652 (GRCm39) probably null Het
Cdk4 A G 10: 126,900,863 (GRCm39) T172A probably damaging Het
Chd5 A G 4: 152,468,616 (GRCm39) D1760G probably damaging Het
Chd7 A G 4: 8,801,310 (GRCm39) probably benign Het
Crybb2 T C 5: 113,210,037 (GRCm39) I109V probably benign Het
Csmd3 A G 15: 48,048,780 (GRCm39) probably benign Het
Dach1 G T 14: 98,406,051 (GRCm39) T232K possibly damaging Het
Dnlz A G 2: 26,241,485 (GRCm39) V81A possibly damaging Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Eps15l1 C T 8: 73,099,929 (GRCm39) D821N probably damaging Het
Fam186a G A 15: 99,839,893 (GRCm39) P2117L probably damaging Het
Fam83d T A 2: 158,621,808 (GRCm39) F173Y probably damaging Het
Gm9116 A T 3: 93,817,772 (GRCm39) R214S probably benign Het
Gtpbp1 A G 15: 79,600,401 (GRCm39) I445V probably damaging Het
H2-M2 G A 17: 37,793,640 (GRCm39) T122I probably damaging Het
Hgd C T 16: 37,448,971 (GRCm39) probably benign Het
Hip1r A G 5: 124,135,004 (GRCm39) Y380C probably benign Het
Hspa8 G A 9: 40,715,137 (GRCm39) G389R probably damaging Het
Htt C A 5: 34,975,097 (GRCm39) D622E probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kdm4a A G 4: 118,004,189 (GRCm39) probably null Het
Map3k9 G A 12: 81,769,043 (GRCm39) P1025S probably benign Het
Or8b47 G A 9: 38,435,437 (GRCm39) M136I probably benign Het
Pabpc1l C A 2: 163,873,134 (GRCm39) H135N probably benign Het
Pacsin2 A T 15: 83,263,998 (GRCm39) S346R probably benign Het
Pcdhb20 A G 18: 37,638,938 (GRCm39) Y488C probably damaging Het
Pkdcc G A 17: 83,531,347 (GRCm39) C452Y probably damaging Het
Poglut1 T C 16: 38,355,083 (GRCm39) probably null Het
Prss59 A G 6: 40,905,533 (GRCm39) M41T probably damaging Het
Pxk T C 14: 8,148,123 (GRCm38) F409L probably benign Het
Rabep2 T C 7: 126,037,896 (GRCm39) S223P probably damaging Het
Rpp40 C T 13: 36,086,034 (GRCm39) R109H probably benign Het
Sbf2 T C 7: 109,940,562 (GRCm39) Y1266C possibly damaging Het
Slc5a4a T C 10: 76,012,368 (GRCm39) V346A probably benign Het
Smpd3 G T 8: 106,991,421 (GRCm39) H377Q possibly damaging Het
Sppl2a C A 2: 126,762,227 (GRCm39) probably benign Het
Tas2r134 T C 2: 51,518,385 (GRCm39) I288T probably benign Het
Trim35 T A 14: 66,546,650 (GRCm39) H472Q probably damaging Het
Trpm5 C A 7: 142,632,088 (GRCm39) R907L probably damaging Het
Ube2e2 G T 14: 18,630,393 (GRCm38) S56* probably null Het
Vmn2r88 A C 14: 51,651,959 (GRCm39) R432S possibly damaging Het
Wdr24 A G 17: 26,045,102 (GRCm39) Y279C probably damaging Het
Wdr90 A G 17: 26,079,104 (GRCm39) V246A probably benign Het
Xrn2 T A 2: 146,871,818 (GRCm39) N385K probably benign Het
Zfp28 T A 7: 6,387,182 (GRCm39) S73T possibly damaging Het
Zfp345 T C 2: 150,314,271 (GRCm39) E422G probably benign Het
Zhx2 A G 15: 57,684,709 (GRCm39) E26G probably benign Het
Other mutations in Pygm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pygm APN 19 6,441,424 (GRCm39) missense probably benign
IGL01743:Pygm APN 19 6,443,024 (GRCm39) splice site probably null
IGL01827:Pygm APN 19 6,440,407 (GRCm39) missense probably damaging 1.00
IGL02032:Pygm APN 19 6,438,117 (GRCm39) missense probably benign 0.23
IGL02261:Pygm APN 19 6,438,301 (GRCm39) missense probably damaging 1.00
IGL02431:Pygm APN 19 6,438,148 (GRCm39) missense probably damaging 1.00
IGL02511:Pygm APN 19 6,435,718 (GRCm39) missense probably benign 0.22
IGL02967:Pygm APN 19 6,443,868 (GRCm39) missense probably damaging 1.00
IGL03081:Pygm APN 19 6,438,851 (GRCm39) missense possibly damaging 0.53
R0336:Pygm UTSW 19 6,438,788 (GRCm39) missense probably damaging 1.00
R0415:Pygm UTSW 19 6,441,396 (GRCm39) missense probably benign 0.06
R1445:Pygm UTSW 19 6,439,917 (GRCm39) missense probably benign 0.20
R1752:Pygm UTSW 19 6,441,064 (GRCm39) missense probably damaging 0.99
R1828:Pygm UTSW 19 6,447,637 (GRCm39) missense possibly damaging 0.72
R2054:Pygm UTSW 19 6,438,185 (GRCm39) missense probably benign 0.02
R2086:Pygm UTSW 19 6,441,511 (GRCm39) critical splice donor site probably null
R2116:Pygm UTSW 19 6,436,438 (GRCm39) missense probably damaging 0.98
R2431:Pygm UTSW 19 6,443,815 (GRCm39) missense probably damaging 1.00
R2516:Pygm UTSW 19 6,447,631 (GRCm39) missense probably benign 0.20
R3938:Pygm UTSW 19 6,442,980 (GRCm39) missense probably benign 0.42
R4609:Pygm UTSW 19 6,441,439 (GRCm39) missense possibly damaging 0.92
R4924:Pygm UTSW 19 6,443,754 (GRCm39) missense probably damaging 1.00
R4995:Pygm UTSW 19 6,448,169 (GRCm39) missense probably damaging 1.00
R5225:Pygm UTSW 19 6,439,494 (GRCm39) missense probably benign 0.01
R5296:Pygm UTSW 19 6,434,609 (GRCm39) missense probably damaging 1.00
R5437:Pygm UTSW 19 6,440,412 (GRCm39) missense probably damaging 1.00
R5994:Pygm UTSW 19 6,448,073 (GRCm39) critical splice acceptor site probably null
R6030:Pygm UTSW 19 6,438,842 (GRCm39) missense possibly damaging 0.78
R6030:Pygm UTSW 19 6,438,842 (GRCm39) missense possibly damaging 0.78
R6188:Pygm UTSW 19 6,447,967 (GRCm39) splice site probably null
R6266:Pygm UTSW 19 6,448,169 (GRCm39) missense probably damaging 1.00
R6799:Pygm UTSW 19 6,448,157 (GRCm39) missense probably damaging 1.00
R6855:Pygm UTSW 19 6,443,787 (GRCm39) missense probably damaging 1.00
R6856:Pygm UTSW 19 6,443,787 (GRCm39) missense probably damaging 1.00
R6857:Pygm UTSW 19 6,443,787 (GRCm39) missense probably damaging 1.00
R7223:Pygm UTSW 19 6,438,893 (GRCm39) missense probably benign
R7256:Pygm UTSW 19 6,435,926 (GRCm39) missense probably benign 0.01
R7263:Pygm UTSW 19 6,438,357 (GRCm39) missense probably damaging 1.00
R7398:Pygm UTSW 19 6,435,966 (GRCm39) missense probably damaging 1.00
R8093:Pygm UTSW 19 6,436,072 (GRCm39) missense probably damaging 1.00
R8351:Pygm UTSW 19 6,438,117 (GRCm39) missense possibly damaging 0.83
R8499:Pygm UTSW 19 6,440,392 (GRCm39) missense probably damaging 0.99
R8967:Pygm UTSW 19 6,434,744 (GRCm39) missense probably damaging 1.00
R9331:Pygm UTSW 19 6,448,129 (GRCm39) missense probably damaging 1.00
R9656:Pygm UTSW 19 6,438,187 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACGCCTGTGATGAGGCCACTTAC -3'
(R):5'- TGACTAAGCACCACAAGGTTGGGG -3'

Sequencing Primer
(F):5'- CTTACCAGGTGGGGGAAGC -3'
(R):5'- CCACAAGGTTGGGGTCTGG -3'
Posted On 2013-10-16