Incidental Mutation 'IGL02261:Pygm'
ID286740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygm
Ensembl Gene ENSMUSG00000032648
Gene Namemuscle glycogen phosphorylase
SynonymsPG
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02261
Quality Score
Status
Chromosome19
Chromosomal Location6384399-6398459 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 6388271 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 171 (N171K)
Ref Sequence ENSEMBL: ENSMUSP00000109111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035269] [ENSMUST00000113483]
Predicted Effect probably damaging
Transcript: ENSMUST00000035269
AA Change: N259K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: N259K

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113483
AA Change: N171K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: N171K

DomainStartEndE-ValueType
Pfam:Phosphorylase 62 742 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142755
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,456,948 V27M probably damaging Het
Ank1 A G 8: 23,087,999 N222D probably damaging Het
Bcas3 A T 11: 85,531,930 T542S probably damaging Het
Btbd1 A T 7: 81,805,759 I288N probably damaging Het
Ctps C T 4: 120,542,579 V500I possibly damaging Het
Cul5 A C 9: 53,635,037 V345G probably damaging Het
Dchs1 A G 7: 105,772,569 Y215H probably damaging Het
Dmxl1 T A 18: 49,840,499 M67K possibly damaging Het
Egln2 C T 7: 27,159,866 E353K possibly damaging Het
Fbxw5 G T 2: 25,503,734 A325S probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gaa A G 11: 119,281,265 *207W probably null Het
Herc2 A G 7: 56,206,744 T3947A probably damaging Het
Ifit2 T A 19: 34,574,224 I388N probably damaging Het
Ikzf4 T C 10: 128,636,722 T209A possibly damaging Het
Il17re A T 6: 113,468,511 probably benign Het
Insrr T A 3: 87,800,722 L157Q probably damaging Het
Kcnq2 T G 2: 181,081,690 Y631S probably damaging Het
Lrrfip1 A G 1: 91,112,168 I198V probably benign Het
Mir7684 A T 15: 82,389,144 probably benign Het
Mphosph9 C T 5: 124,260,087 E1049K probably damaging Het
Mroh1 G A 15: 76,429,160 R611Q probably benign Het
Mynn A T 3: 30,607,131 I121F possibly damaging Het
Ndrg2 G A 14: 51,911,109 R32C probably damaging Het
Olfr1178 A G 2: 88,391,381 I45V probably benign Het
Olfr324 T C 11: 58,597,804 I138T probably benign Het
Ppp1r9b A G 11: 95,002,110 E260G probably damaging Het
Psd4 A G 2: 24,401,744 S652G probably damaging Het
Psg25 C T 7: 18,521,343 R416H probably benign Het
Rbm46 A T 3: 82,864,416 D297E possibly damaging Het
Selenov T A 7: 28,290,579 T167S probably benign Het
Serpina10 T C 12: 103,616,949 Y358C probably damaging Het
Slc27a3 T C 3: 90,387,695 R352G probably benign Het
Snx33 T C 9: 56,926,578 D69G probably benign Het
St8sia2 G T 7: 73,966,846 P127H probably damaging Het
Thbd T C 2: 148,406,481 K489R probably benign Het
Ttn A T 2: 76,936,705 C3039S probably damaging Het
Vmn1r167 T C 7: 23,504,836 M252V probably benign Het
Xdh A G 17: 73,913,965 S590P possibly damaging Het
Zfp827 G A 8: 79,180,079 V907I probably damaging Het
Other mutations in Pygm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pygm APN 19 6391394 missense probably benign
IGL01743:Pygm APN 19 6392994 splice site probably null
IGL01827:Pygm APN 19 6390377 missense probably damaging 1.00
IGL02032:Pygm APN 19 6388087 missense probably benign 0.23
IGL02431:Pygm APN 19 6388118 missense probably damaging 1.00
IGL02511:Pygm APN 19 6385688 missense probably benign 0.22
IGL02967:Pygm APN 19 6393838 missense probably damaging 1.00
IGL03081:Pygm APN 19 6388821 missense possibly damaging 0.53
R0336:Pygm UTSW 19 6388758 missense probably damaging 1.00
R0415:Pygm UTSW 19 6391366 missense probably benign 0.06
R0799:Pygm UTSW 19 6386018 intron probably benign
R1445:Pygm UTSW 19 6389887 missense probably benign 0.20
R1752:Pygm UTSW 19 6391034 missense probably damaging 0.99
R1828:Pygm UTSW 19 6397607 missense possibly damaging 0.72
R2054:Pygm UTSW 19 6388155 missense probably benign 0.02
R2086:Pygm UTSW 19 6391481 critical splice donor site probably null
R2116:Pygm UTSW 19 6386408 missense probably damaging 0.98
R2431:Pygm UTSW 19 6393785 missense probably damaging 1.00
R2516:Pygm UTSW 19 6397601 missense probably benign 0.20
R3938:Pygm UTSW 19 6392950 missense probably benign 0.42
R4609:Pygm UTSW 19 6391409 missense possibly damaging 0.92
R4924:Pygm UTSW 19 6393724 missense probably damaging 1.00
R4995:Pygm UTSW 19 6398139 missense probably damaging 1.00
R5225:Pygm UTSW 19 6389464 missense probably benign 0.01
R5296:Pygm UTSW 19 6384579 missense probably damaging 1.00
R5437:Pygm UTSW 19 6390382 missense probably damaging 1.00
R5994:Pygm UTSW 19 6398043 critical splice acceptor site probably null
R6030:Pygm UTSW 19 6388812 missense possibly damaging 0.78
R6030:Pygm UTSW 19 6388812 missense possibly damaging 0.78
R6188:Pygm UTSW 19 6397937 splice site probably null
R6266:Pygm UTSW 19 6398139 missense probably damaging 1.00
R6799:Pygm UTSW 19 6398127 missense probably damaging 1.00
R6855:Pygm UTSW 19 6393757 missense probably damaging 1.00
R6856:Pygm UTSW 19 6393757 missense probably damaging 1.00
R6857:Pygm UTSW 19 6393757 missense probably damaging 1.00
R7223:Pygm UTSW 19 6388863 missense probably benign
R7256:Pygm UTSW 19 6385896 missense probably benign 0.01
R7263:Pygm UTSW 19 6388327 missense probably damaging 1.00
R7398:Pygm UTSW 19 6385936 missense probably damaging 1.00
R8093:Pygm UTSW 19 6386042 missense probably damaging 1.00
Posted On2015-04-16