Incidental Mutation 'R2268:Phka1'
ID 242274
Institutional Source Beutler Lab
Gene Symbol Phka1
Ensembl Gene ENSMUSG00000034055
Gene Name phosphorylase kinase alpha 1
Synonyms Phka, 9830108K24Rik
MMRRC Submission 040268-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2268 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 101557581-101687852 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) A to G at 101584716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043596] [ENSMUST00000052012] [ENSMUST00000113611] [ENSMUST00000119229] [ENSMUST00000120270] [ENSMUST00000122022] [ENSMUST00000122022]
AlphaFold P18826
Predicted Effect probably benign
Transcript: ENSMUST00000043596
SMART Domains Protein: ENSMUSP00000042778
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 864 5.6e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052012
SMART Domains Protein: ENSMUSP00000061991
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 6.8e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113611
SMART Domains Protein: ENSMUSP00000109241
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 6.5e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119229
SMART Domains Protein: ENSMUSP00000114066
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120270
SMART Domains Protein: ENSMUSP00000113302
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7.3e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122022
SMART Domains Protein: ENSMUSP00000112529
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7.6e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122022
SMART Domains Protein: ENSMUSP00000112529
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7.6e-196 PFAM
Meta Mutation Damage Score 0.0913 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A T 14: 8,253,496 (GRCm38) M217K probably damaging Het
Adam34 C T 8: 44,103,647 (GRCm39) R666H probably benign Het
Adap2 G T 11: 80,056,552 (GRCm39) Q188H probably damaging Het
Adgrb3 T C 1: 25,150,898 (GRCm39) T872A possibly damaging Het
Ahnak A G 19: 8,987,938 (GRCm39) K3074R possibly damaging Het
Ano7 A T 1: 93,308,161 (GRCm39) D64V possibly damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Arl13a A G X: 133,106,162 (GRCm39) Q236R possibly damaging Het
Astn1 T C 1: 158,329,669 (GRCm39) Y175H probably damaging Het
Atn1 C G 6: 124,723,203 (GRCm39) probably benign Het
Ccser1 C T 6: 61,547,827 (GRCm39) T118M probably damaging Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Col17a1 G A 19: 47,638,550 (GRCm39) P1173S probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyp4f17 G T 17: 32,736,928 (GRCm39) V87F probably benign Het
D2hgdh C T 1: 93,763,157 (GRCm39) A314V probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dhodh A G 8: 110,321,306 (GRCm39) F360S possibly damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dynap C T 18: 70,374,218 (GRCm39) A103T probably benign Het
Edem2 G A 2: 155,544,137 (GRCm39) P538S probably benign Het
Egfl8 C T 17: 34,832,832 (GRCm39) V253M probably damaging Het
Erich6 A T 3: 58,526,260 (GRCm39) S581T probably benign Het
Fam117b T C 1: 59,952,789 (GRCm39) L156P probably damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Fzd9 A G 5: 135,279,148 (GRCm39) S246P probably damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hmcn1 A G 1: 150,500,349 (GRCm39) probably benign Het
Hps3 G A 3: 20,067,099 (GRCm39) probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Irs2 T C 8: 11,057,586 (GRCm39) E282G probably damaging Het
Itih4 A G 14: 30,614,385 (GRCm39) D445G probably damaging Het
Kif14 T A 1: 136,447,486 (GRCm39) C1430* probably null Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lamb1 A T 12: 31,377,644 (GRCm39) I1630F probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mink1 G A 11: 70,492,550 (GRCm39) probably null Het
Mmrn2 A G 14: 34,121,449 (GRCm39) K773R probably benign Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtbp G A 15: 55,432,556 (GRCm39) probably null Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Myoc C T 1: 162,476,625 (GRCm39) T443M probably damaging Het
Nav1 A T 1: 135,399,974 (GRCm39) L532* probably null Het
Nbeal1 T A 1: 60,370,037 (GRCm39) probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Opcml T C 9: 28,814,651 (GRCm39) I301T possibly damaging Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or8b1 T A 9: 38,399,504 (GRCm39) Y60N probably damaging Het
Pappa2 A G 1: 158,684,841 (GRCm39) M766T probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Ppp2ca G A 11: 52,008,913 (GRCm39) G138R probably damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Rdh7 A G 10: 127,720,530 (GRCm39) S281P probably benign Het
Rps17 C T 7: 80,994,746 (GRCm39) R5H probably benign Het
Scgb1b2 T A 7: 30,991,201 (GRCm39) probably benign Het
Skic3 T G 13: 76,260,393 (GRCm39) probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Snap23 A G 2: 120,429,793 (GRCm39) T213A probably benign Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Srebf1 A G 11: 60,097,973 (GRCm39) S44P probably damaging Het
St8sia5 T C 18: 77,320,526 (GRCm39) S93P probably damaging Het
Styk1 T C 6: 131,289,539 (GRCm39) E25G probably benign Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tbc1d22b A G 17: 29,818,828 (GRCm39) H394R probably damaging Het
Tbx5 A T 5: 119,983,174 (GRCm39) probably null Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vangl1 A T 3: 102,104,160 (GRCm39) Y7N probably damaging Het
Vav2 A T 2: 27,182,667 (GRCm39) probably null Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r15 A G 5: 109,441,073 (GRCm39) Y262H probably benign Het
Vmn2r76 T C 7: 85,879,707 (GRCm39) M198V probably benign Het
Zfp831 A C 2: 174,486,034 (GRCm39) R236S probably benign 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
R4463:Phka1 UTSW X 101,588,990 (GRCm39) missense probably benign
X0022:Phka1 UTSW X 101,664,951 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGATCTTTGAAGCTGCTGAGC -3'
(R):5'- AACTGACCTGACGATTTACAAAGG -3'

Sequencing Primer
(F):5'- GCTGCTGAGCCAGTACACAATATAC -3'
(R):5'- CACACTGTGAAACCTGTGC -3'
Posted On 2014-10-16