Incidental Mutation 'IGL03034:Phka2'
ID 408577
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 # IGL03034
Quality Score
Status
Chromosome X
Chromosomal Location 159285162-159381874 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 159360546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 858 (E858*)
Ref Sequence ENSEMBL: ENSMUSP00000107999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033652] [ENSMUST00000112377] [ENSMUST00000112380]
AlphaFold Q8BWJ3
Predicted Effect probably null
Transcript: ENSMUST00000033652
AA Change: E858*
SMART Domains Protein: ENSMUSP00000033652
Gene: ENSMUSG00000031295
AA Change: E858*

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: ENSMUST00000112377
AA Change: E858*
SMART Domains Protein: ENSMUSP00000107996
Gene: ENSMUSG00000031295
AA Change: E858*

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
AA Change: E858*
SMART Domains Protein: ENSMUSP00000107999
Gene: ENSMUSG00000031295
AA Change: E858*

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,780,908 (GRCm39) probably benign Het
Ablim2 A G 5: 35,985,509 (GRCm39) T269A probably benign Het
Asgr2 G T 11: 69,989,089 (GRCm39) G178W probably damaging Het
Chtf18 A G 17: 25,946,320 (GRCm39) probably benign Het
Cnmd C T 14: 79,879,368 (GRCm39) A257T probably benign Het
Cox7a1 A G 7: 29,884,693 (GRCm39) probably benign Het
Cpox C T 16: 58,495,718 (GRCm39) T345M probably damaging Het
Crisp1 T C 17: 40,618,619 (GRCm39) T81A probably benign Het
Dcc T A 18: 71,708,214 (GRCm39) R501* probably null Het
Dlx6 A C 6: 6,863,807 (GRCm39) Q143P probably benign Het
Dpp10 T A 1: 123,269,348 (GRCm39) Y687F probably damaging Het
Eif2b1 A G 5: 124,709,894 (GRCm39) V228A probably benign Het
Enpep T C 3: 129,092,599 (GRCm39) D528G probably damaging Het
Fbxo6 G A 4: 148,230,579 (GRCm39) Q228* probably null Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Kctd9 T A 14: 67,971,728 (GRCm39) S268T probably benign Het
Kifap3 G A 1: 163,715,846 (GRCm39) V749M probably benign Het
Mdm4 T C 1: 132,938,809 (GRCm39) D94G probably damaging Het
Mllt10 T G 2: 18,069,847 (GRCm39) M1R probably null Het
Mtcl1 T C 17: 66,651,193 (GRCm39) Y1424C probably damaging Het
Mybpc2 A T 7: 44,161,321 (GRCm39) I549N possibly damaging Het
Myocd T C 11: 65,109,511 (GRCm39) T87A probably benign Het
Nr3c2 T G 8: 77,914,267 (GRCm39) Y824* probably null Het
Omg T A 11: 79,392,947 (GRCm39) T304S possibly damaging Het
Or4b1 A G 2: 89,980,177 (GRCm39) Y58H probably damaging Het
Or52p2 G A 7: 102,237,147 (GRCm39) H268Y probably benign Het
Or5an1b T C 19: 12,300,018 (GRCm39) T58A possibly damaging Het
Or5b97 T C 19: 12,879,121 (GRCm39) T8A possibly damaging Het
Or6c2 A T 10: 129,362,527 (GRCm39) I144F probably benign Het
Pde3a G A 6: 141,438,126 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,469,252 (GRCm39) K129E probably damaging Het
Pp2d1 T C 17: 53,815,081 (GRCm39) T548A possibly damaging Het
Prr14l G A 5: 32,984,782 (GRCm39) A1571V possibly damaging Het
Rbms3 A G 9: 117,080,879 (GRCm39) probably benign Het
Sparcl1 T C 5: 104,241,103 (GRCm39) E107G probably damaging Het
Stra6l A G 4: 45,885,392 (GRCm39) D620G probably benign Het
Traf3ip2 A T 10: 39,502,215 (GRCm39) K121I probably damaging Het
Ttc34 T C 4: 154,945,640 (GRCm39) S734P probably damaging Het
Zfp953 C T 13: 67,491,526 (GRCm39) C142Y probably damaging Het
Zfp955b T A 17: 33,521,142 (GRCm39) C204S probably benign Het
Other mutations in Phka2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Phka2 APN X 159,347,209 (GRCm39) missense possibly damaging 0.68
IGL02179:Phka2 APN X 159,337,376 (GRCm39) critical splice donor site 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 2016-08-02