Incidental Mutation 'R4463:Phka1'
ID 330255
Institutional Source Beutler Lab
Gene Symbol Phka1
Ensembl Gene ENSMUSG00000034055
Gene Name phosphorylase kinase alpha 1
Synonyms Phka, 9830108K24Rik
MMRRC Submission 041721-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4463 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 101557581-101687852 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101588990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 818 (V818A)
Ref Sequence ENSEMBL: ENSMUSP00000112529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043596] [ENSMUST00000052012] [ENSMUST00000113611] [ENSMUST00000119229] [ENSMUST00000120270] [ENSMUST00000122022]
AlphaFold P18826
Predicted Effect probably benign
Transcript: ENSMUST00000043596
AA Change: V759A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042778
Gene: ENSMUSG00000034055
AA Change: V759A

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 864 5.6e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052012
AA Change: V818A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061991
Gene: ENSMUSG00000034055
AA Change: V818A

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 6.8e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113611
AA Change: V818A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109241
Gene: ENSMUSG00000034055
AA Change: V818A

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 6.5e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119229
AA Change: V818A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114066
Gene: ENSMUSG00000034055
AA Change: V818A

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120270
AA Change: V818A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113302
Gene: ENSMUSG00000034055
AA Change: V818A

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7.3e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122022
AA Change: V818A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112529
Gene: ENSMUSG00000034055
AA Change: V818A

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7.6e-196 PFAM
Meta Mutation Damage Score 0.0941 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
PHENOTYPE: PHK activity is nearly absent in I/Ln skeletal muscle and reduced in brain, heart and kidney. The I-allele sequence is known to have a single nucleotide insertion (frameshift). A different allele in strain V reduces PHK activity to 25% and is dominant tonormal and I-strain alleles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,769,981 (GRCm39) probably benign Het
Abcc8 T C 7: 45,756,005 (GRCm39) probably null Het
Alox12e A G 11: 70,209,082 (GRCm39) L388P probably damaging Het
Aspm T A 1: 139,382,748 (GRCm39) S27T possibly damaging Het
Capn2 G A 1: 182,307,329 (GRCm39) probably benign Het
Catspere1 G A 1: 177,765,279 (GRCm39) noncoding transcript Het
Ccdc158 T C 5: 92,782,159 (GRCm39) D820G probably null Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Chd9 T A 8: 91,705,627 (GRCm39) D761E probably benign Het
Chst8 T C 7: 34,374,645 (GRCm39) D398G probably damaging Het
Clns1a T C 7: 97,370,156 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,318,084 (GRCm39) Y355F probably damaging Het
Cyp4f37 A G 17: 32,846,710 (GRCm39) probably null Het
Eif1ad11 A G 12: 87,994,129 (GRCm39) D119G probably benign Het
Eipr1 G A 12: 28,909,338 (GRCm39) A202T probably damaging Het
Fam83a T C 15: 57,858,655 (GRCm39) S232P probably damaging Het
Fastkd2 C T 1: 63,774,968 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,850,144 (GRCm39) M1197V probably benign Het
Fgfr4 G A 13: 55,304,280 (GRCm39) V107I probably benign Het
Gatad1 G T 5: 3,697,404 (GRCm39) S72R probably benign Het
Gli2 T C 1: 118,763,738 (GRCm39) D1471G probably damaging Het
Gm1330 A T 2: 148,845,064 (GRCm39) Y36* probably null Het
Gm29125 T C 1: 80,360,903 (GRCm39) noncoding transcript Het
Idi1 G A 13: 8,937,508 (GRCm39) probably benign Het
Itgbl1 C T 14: 124,078,080 (GRCm39) T190I probably damaging Het
Kbtbd3 G A 9: 4,331,257 (GRCm39) G544R probably damaging Het
Kifc3 T C 8: 95,828,744 (GRCm39) T638A probably damaging Het
Lama1 G A 17: 68,068,695 (GRCm39) C798Y probably damaging Het
Larp6 C A 9: 60,644,279 (GRCm39) H140N probably damaging Het
Mctp1 A T 13: 76,860,206 (GRCm39) D108V probably damaging Het
Myzap G T 9: 71,462,933 (GRCm39) D204E probably benign Het
Neb GCC GC 2: 52,169,734 (GRCm39) probably null Het
Or13p8 T C 4: 118,583,855 (GRCm39) V137A probably benign Het
Or1j20 T C 2: 36,760,205 (GRCm39) I209T probably benign Het
Or4c102 T C 2: 88,422,976 (GRCm39) V276A possibly damaging Het
Plek T C 11: 16,931,873 (GRCm39) Y326C possibly damaging Het
Pp2d1 A G 17: 53,822,886 (GRCm39) I60T probably benign Het
Prmt3 T C 7: 49,467,837 (GRCm39) Y348H probably damaging Het
Psg27 G T 7: 18,291,010 (GRCm39) Q398K possibly damaging Het
Raver1 T C 9: 21,003,123 (GRCm39) T51A probably benign Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Sectm1a T A 11: 120,960,477 (GRCm39) I113L probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Snph A T 2: 151,436,035 (GRCm39) S229T probably damaging Het
Stpg4 A G 17: 87,697,101 (GRCm39) F183L probably benign Het
Tango6 A T 8: 107,415,706 (GRCm39) T176S probably benign Het
Vmn1r196 A G 13: 22,477,853 (GRCm39) Q164R probably benign Het
Vstm4 T A 14: 32,639,833 (GRCm39) L236Q probably damaging Het
Xylb A G 9: 119,215,433 (GRCm39) D462G probably benign Het
Zc2hc1c A G 12: 85,337,071 (GRCm39) R243G probably damaging Het
Other mutations in Phka1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Phka1 APN X 101,629,712 (GRCm39) missense probably damaging 0.99
IGL02561:Phka1 APN X 101,641,895 (GRCm39) splice site probably benign
IGL03201:Phka1 APN X 101,584,716 (GRCm39) critical splice donor site probably null
IGL03294:Phka1 APN X 101,580,819 (GRCm39) missense probably damaging 1.00
R0626:Phka1 UTSW X 101,564,437 (GRCm39) missense probably damaging 1.00
R0635:Phka1 UTSW X 101,665,006 (GRCm39) missense probably damaging 1.00
R0709:Phka1 UTSW X 101,629,710 (GRCm39) missense probably damaging 0.98
R1399:Phka1 UTSW X 101,660,964 (GRCm39) missense probably damaging 1.00
R2114:Phka1 UTSW X 101,653,807 (GRCm39) missense probably damaging 1.00
R2115:Phka1 UTSW X 101,653,807 (GRCm39) missense probably damaging 1.00
R2117:Phka1 UTSW X 101,653,807 (GRCm39) missense probably damaging 1.00
R2267:Phka1 UTSW X 101,584,716 (GRCm39) critical splice donor site probably benign
R2268:Phka1 UTSW X 101,584,716 (GRCm39) critical splice donor site probably benign
X0022:Phka1 UTSW X 101,664,951 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTGCCACTCACGAATAAAAGGC -3'
(R):5'- CTACTAAAGGAGGTTACAACAAGC -3'

Sequencing Primer
(F):5'- TTGAACCCAGGATCCCAGGAATG -3'
(R):5'- AGGAGGTTACAACAAGCATATCC -3'
Posted On 2015-07-21