Incidental Mutation 'IGL02693:Phkb'
ID 303824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phkb
Ensembl Gene ENSMUSG00000036879
Gene Name phosphorylase kinase beta
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.842) question?
Stock # IGL02693
Quality Score
Status
Chromosome 8
Chromosomal Location 85840959-86061376 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 85942234 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 297 (F297V)
Ref Sequence ENSEMBL: ENSMUSP00000050788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053771]
AlphaFold Q7TSH2
Predicted Effect probably damaging
Transcript: ENSMUST00000053771
AA Change: F297V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: F297V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 870 1.5e-111 PFAM
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, 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
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T C 10: 82,285,258 I3973V probably benign Het
A830018L16Rik A G 1: 11,596,282 D271G probably damaging Het
Agl A T 3: 116,746,428 V1478E possibly damaging Het
Ckap5 C T 2: 91,570,211 P636L probably damaging Het
Cnot1 A G 8: 95,773,485 V127A probably damaging Het
Cs A G 10: 128,349,809 probably benign Het
Fbln1 G A 15: 85,229,574 E170K probably benign Het
Gm5866 A T 5: 52,583,216 noncoding transcript Het
Lpin3 T C 2: 160,905,055 V794A probably damaging Het
Ly86 T G 13: 37,375,029 I68S probably damaging Het
Mrps34 A G 17: 24,895,198 I11V probably benign Het
Nsmce4a A G 7: 130,542,808 S122P probably damaging Het
Olfm1 A G 2: 28,212,650 E112G probably damaging Het
Olfr1153 T G 2: 87,896,533 C111W probably damaging Het
Parp9 A G 16: 35,956,970 E428G probably benign Het
Pianp T G 6: 125,001,635 F268V possibly damaging Het
Polr1a T C 6: 71,963,846 probably benign Het
Prune2 G A 19: 17,124,491 G2453E probably benign Het
Ptpn4 T C 1: 119,715,969 N350D probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rfc4 A G 16: 23,114,210 S326P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc35f1 A T 10: 52,933,128 L70F probably damaging Het
Slc5a7 T C 17: 54,276,919 T448A probably benign Het
Stoml1 T A 9: 58,257,076 I149N probably damaging Het
Sytl1 A T 4: 133,257,746 C180S probably benign Het
Tex37 C A 6: 70,913,504 R101S possibly damaging Het
Traf6 T C 2: 101,688,505 L113P possibly damaging Het
Trappc9 A G 15: 72,963,693 probably benign Het
Tubg2 T C 11: 101,160,899 Y317H probably damaging Het
Zfp334 T C 2: 165,380,513 T537A possibly damaging Het
Other mutations in Phkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Phkb APN 8 85957587 missense probably benign 0.42
IGL01126:Phkb APN 8 85946101 missense probably benign 0.12
IGL01700:Phkb APN 8 86017465 missense probably benign 0.06
IGL01761:Phkb APN 8 86019064 missense probably benign 0.01
IGL02404:Phkb APN 8 85878115 missense possibly damaging 0.94
IGL02672:Phkb APN 8 85942358 missense probably benign
IGL02682:Phkb APN 8 85875646 makesense probably null
IGL02798:Phkb APN 8 86043777 missense probably benign
IGL02888:Phkb APN 8 85935472 critical splice donor site probably null
IGL03106:Phkb APN 8 86018466 splice site probably benign
PIT4544001:Phkb UTSW 8 86011637 missense probably benign 0.42
R0088:Phkb UTSW 8 85942391 critical splice donor site probably null
R0107:Phkb UTSW 8 86016931 missense probably benign 0.01
R0504:Phkb UTSW 8 86056524 missense probably benign
R0569:Phkb UTSW 8 86017402 missense probably damaging 1.00
R0671:Phkb UTSW 8 85875693 missense probably damaging 0.97
R0894:Phkb UTSW 8 86017441 missense probably damaging 1.00
R1491:Phkb UTSW 8 85875657 missense possibly damaging 0.90
R1502:Phkb UTSW 8 86059339 missense possibly damaging 0.69
R1595:Phkb UTSW 8 86026553 splice site probably benign
R1686:Phkb UTSW 8 86021649 missense probably benign
R1913:Phkb UTSW 8 85901920 missense possibly damaging 0.95
R1919:Phkb UTSW 8 85922161 missense probably benign 0.17
R1968:Phkb UTSW 8 85970951 missense probably benign 0.07
R2008:Phkb UTSW 8 86056467 missense probably damaging 1.00
R2051:Phkb UTSW 8 86049821 critical splice donor site probably null
R2148:Phkb UTSW 8 86017486 missense probably damaging 0.96
R2305:Phkb UTSW 8 86043802 missense possibly damaging 0.80
R3801:Phkb UTSW 8 85922229 nonsense probably null
R3804:Phkb UTSW 8 85922229 nonsense probably null
R4159:Phkb UTSW 8 86021533 splice site probably null
R4624:Phkb UTSW 8 85848712 intron probably benign
R4833:Phkb UTSW 8 85901911 missense probably damaging 1.00
R5017:Phkb UTSW 8 86049809 missense probably benign
R5169:Phkb UTSW 8 85896491 missense probably benign 0.01
R5337:Phkb UTSW 8 85878245 missense probably damaging 1.00
R5391:Phkb UTSW 8 86017468 missense probably damaging 1.00
R5395:Phkb UTSW 8 86017468 missense probably damaging 1.00
R5480:Phkb UTSW 8 85922182 missense probably damaging 1.00
R5538:Phkb UTSW 8 85922127 missense possibly damaging 0.80
R5623:Phkb UTSW 8 85843048 unclassified probably benign
R5753:Phkb UTSW 8 85878230 missense probably damaging 1.00
R5909:Phkb UTSW 8 86021447 critical splice donor site probably null
R5929:Phkb UTSW 8 85970914 missense probably benign 0.01
R6093:Phkb UTSW 8 85942329 missense probably damaging 1.00
R6320:Phkb UTSW 8 85875698 missense probably benign 0.00
R6324:Phkb UTSW 8 86018542 missense probably benign 0.00
R6626:Phkb UTSW 8 85922151 missense probably damaging 0.96
R6687:Phkb UTSW 8 86029546 missense probably damaging 1.00
R6848:Phkb UTSW 8 86029617 missense probably damaging 0.99
R7228:Phkb UTSW 8 85843007 unclassified probably benign
R7260:Phkb UTSW 8 85878130 missense probably benign 0.07
R7271:Phkb UTSW 8 86043789 missense probably damaging 1.00
R7314:Phkb UTSW 8 85942392 splice site probably null
R7586:Phkb UTSW 8 86029597 missense probably damaging 1.00
R7654:Phkb UTSW 8 85940887 missense possibly damaging 0.91
R7958:Phkb UTSW 8 86021663 missense probably benign 0.00
R8269:Phkb UTSW 8 86029582 missense probably benign 0.42
R8811:Phkb UTSW 8 86018527 missense possibly damaging 0.58
R8967:Phkb UTSW 8 86029434 intron probably benign
R9176:Phkb UTSW 8 85970994 missense probably damaging 0.96
R9350:Phkb UTSW 8 86016864 nonsense probably null
R9465:Phkb UTSW 8 85896430 missense probably damaging 1.00
X0021:Phkb UTSW 8 86029635 missense probably damaging 1.00
Posted On 2015-04-16