|Institutional Source||Beutler Lab|
|Gene Name||phosphorylase kinase beta|
|Is this an essential gene?||Probably essential (E-score: 0.818)|
|Stock #||R6848 (G1)|
|Chromosomal Location||85840959-86061376 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 86029617 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 847 (I847F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050788 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053771]|
|Predicted Effect||probably damaging
AA Change: I847F
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: I847F
AA Change: I277F
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
|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, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Phkb||
(F):5'- ATTTCAGCCTGCCAGTCATC -3'
(R):5'- CATTTCTTCACACCAGCAGAGG -3'
(F):5'- GCCAGTCATCCTGAGCCTTG -3'
(R):5'- TGGAAGCACCACAGCATG -3'