Incidental Mutation 'IGL02179:Phka2'
ID 283263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phka2
Ensembl Gene ENSMUSG00000031295
Gene Name phosphorylase kinase alpha 2
Synonyms k, 6330505C01Rik, Phk
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL02179
Quality Score
Status
Chromosome X
Chromosomal Location 159285162-159381874 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 159337376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033652] [ENSMUST00000112376] [ENSMUST00000112377] [ENSMUST00000112380]
AlphaFold Q8BWJ3
Predicted Effect probably null
Transcript: ENSMUST00000033652
SMART Domains Protein: ENSMUSP00000033652
Gene: ENSMUSG00000031295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 919 9.2e-200 PFAM
low complexity region 1039 1055 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112376
SMART Domains Protein: ENSMUSP00000107995
Gene: ENSMUSG00000031295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 521 1.5e-158 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112377
SMART Domains Protein: ENSMUSP00000107996
Gene: ENSMUSG00000031295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 919 9.2e-200 PFAM
low complexity region 1039 1055 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112380
SMART Domains Protein: ENSMUSP00000107999
Gene: ENSMUSG00000031295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 919 4.5e-197 PFAM
low complexity region 1039 1055 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153907
Coding Region Coverage
Validation Efficiency
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 hepatic 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 C A 2: 31,682,261 (GRCm39) A385D probably damaging Het
Ace A G 11: 105,860,615 (GRCm39) D174G probably benign Het
Aldh1l2 A G 10: 83,358,701 (GRCm39) V98A probably benign Het
AU040320 T A 4: 126,729,405 (GRCm39) F522L probably benign Het
Ccdc73 A G 2: 104,737,913 (GRCm39) D3G probably damaging Het
Cdk14 A C 5: 5,153,845 (GRCm39) L199V probably damaging Het
Cdk15 G T 1: 59,370,100 (GRCm39) A381S possibly damaging Het
Cyb5a A G 18: 84,891,280 (GRCm39) I68V probably benign Het
Dock5 G A 14: 68,043,945 (GRCm39) probably benign Het
Fbxw24 T A 9: 109,438,973 (GRCm39) K201* probably null Het
Gm5852 C T 3: 93,635,023 (GRCm39) noncoding transcript Het
Gsdma3 A G 11: 98,526,097 (GRCm39) K274E possibly damaging Het
Hoxa7 T A 6: 52,192,854 (GRCm39) Q178L probably damaging Het
Itgae G T 11: 73,024,844 (GRCm39) V992L probably benign Het
Klk1b26 A G 7: 43,665,736 (GRCm39) N183D probably benign Het
Krt39 A T 11: 99,411,667 (GRCm39) S140T probably damaging Het
Lama2 G A 10: 26,946,360 (GRCm39) T1953I probably benign Het
Mmp1a G A 9: 7,464,273 (GRCm39) R26Q probably benign Het
Myh7b A C 2: 155,456,411 (GRCm39) I175L probably benign Het
Nol11 A G 11: 107,080,082 (GRCm39) M1T probably null Het
Nrxn1 T A 17: 90,937,511 (GRCm39) I641F probably damaging Het
Or51ag1 A C 7: 103,155,934 (GRCm39) L73R probably damaging Het
Or8k3 A T 2: 86,058,591 (GRCm39) C241* probably null Het
Or9i2 T C 19: 13,815,851 (GRCm39) T229A probably benign Het
Parn G T 16: 13,485,456 (GRCm39) H13Q probably benign Het
Pcnx1 T C 12: 81,980,493 (GRCm39) probably benign Het
Pdcd10 T C 3: 75,434,922 (GRCm39) D60G probably damaging Het
Ppargc1a A T 5: 51,631,053 (GRCm39) D525E possibly damaging Het
Rad54l2 C A 9: 106,597,589 (GRCm39) R139L probably damaging Het
Rnf20 T C 4: 49,638,712 (GRCm39) V178A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sdccag8 C T 1: 176,705,622 (GRCm39) H479Y probably benign Het
Taf8 T C 17: 47,813,158 (GRCm39) T13A probably benign Het
Ttc8 T C 12: 98,930,796 (GRCm39) L270P possibly damaging Het
Ttn G A 2: 76,717,712 (GRCm39) Q365* probably null Het
Uchl1 A G 5: 66,833,637 (GRCm39) Q2R probably benign Het
Ufl1 A G 4: 25,254,896 (GRCm39) V440A probably damaging Het
Other mutations in Phka2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Phka2 APN X 159,347,209 (GRCm39) missense possibly damaging 0.68
IGL03034:Phka2 APN X 159,360,546 (GRCm39) nonsense probably null
R1996:Phka2 UTSW X 159,324,411 (GRCm39) missense probably benign 0.27
R2054:Phka2 UTSW X 159,337,323 (GRCm39) missense probably damaging 1.00
R2237:Phka2 UTSW X 159,324,408 (GRCm39) missense probably damaging 1.00
R2238:Phka2 UTSW X 159,324,408 (GRCm39) missense probably damaging 1.00
R2239:Phka2 UTSW X 159,324,408 (GRCm39) missense probably damaging 1.00
R3622:Phka2 UTSW X 159,327,291 (GRCm39) nonsense probably null
R3623:Phka2 UTSW X 159,327,291 (GRCm39) nonsense probably null
R3701:Phka2 UTSW X 159,316,045 (GRCm39) missense possibly damaging 0.95
R5735:Phka2 UTSW X 159,342,862 (GRCm39) frame shift probably null
R5736:Phka2 UTSW X 159,342,862 (GRCm39) frame shift probably null
R5737:Phka2 UTSW X 159,342,862 (GRCm39) frame shift probably null
R5738:Phka2 UTSW X 159,342,862 (GRCm39) frame shift probably null
R6812:Phka2 UTSW X 159,316,044 (GRCm39) missense probably damaging 0.99
R6813:Phka2 UTSW X 159,316,044 (GRCm39) missense probably damaging 0.99
R6957:Phka2 UTSW X 159,316,044 (GRCm39) missense probably damaging 0.99
R6960:Phka2 UTSW X 159,316,044 (GRCm39) missense probably damaging 0.99
X0066:Phka2 UTSW X 159,332,268 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16