Incidental Mutation 'IGL01761:Phkb'
ID153582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phkb
Ensembl Gene ENSMUSG00000036879
Gene Namephosphorylase kinase beta
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.835) question?
Stock #IGL01761
Quality Score
Status
Chromosome8
Chromosomal Location85840959-86061376 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86019064 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 629 (M629L)
Ref Sequence ENSEMBL: ENSMUSP00000050788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053771]
Predicted Effect probably benign
Transcript: ENSMUST00000053771
AA Change: M629L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: M629L

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 870 1.5e-111 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160731
AA Change: M59L
SMART Domains Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879
AA Change: M59L

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 26 301 2.2e-23 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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T C 17: 36,978,807 T44A probably damaging Het
A2ml1 T A 6: 128,546,337 Q1212L possibly damaging Het
A530064D06Rik T C 17: 48,152,959 S190G possibly damaging Het
AA986860 A G 1: 130,742,722 H227R possibly damaging Het
Ace C A 11: 105,979,493 A826E possibly damaging Het
Amigo3 G A 9: 108,053,402 G8D possibly damaging Het
Angpt1 A T 15: 42,476,467 F283I possibly damaging Het
Arhgef5 T C 6: 43,274,604 L763P probably benign Het
Atr T C 9: 95,951,448 probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
C4b T A 17: 34,739,938 M506L possibly damaging Het
Cdc25a T C 9: 109,891,865 probably benign Het
Dcaf17 T C 2: 71,056,537 S57P probably damaging Het
Dph5 T A 3: 115,899,713 D93E probably damaging Het
Fam169a A G 13: 97,091,918 E33G possibly damaging Het
Fam193b G A 13: 55,549,257 T340I probably benign Het
Glod4 T C 11: 76,243,602 N15D probably benign Het
Inpp5k A G 11: 75,647,677 E102G possibly damaging Het
Kif27 A T 13: 58,337,645 D500E probably benign Het
Lmntd1 A G 6: 145,433,722 I15T possibly damaging Het
Lrp2 C T 2: 69,481,235 R2633H possibly damaging Het
Lrp4 G A 2: 91,481,981 probably null Het
Lrrc3b A C 14: 15,358,098 N169K probably benign Het
March7 T C 2: 60,234,195 S272P probably benign Het
Mier2 A G 10: 79,548,352 probably null Het
Myo9b G A 8: 71,349,152 S1307N probably damaging Het
Olfr1220 G T 2: 89,097,544 P128T probably damaging Het
Olfr494 T G 7: 108,368,318 V276G probably damaging Het
Rergl C A 6: 139,501,865 V4F probably damaging Het
Rgs22 A T 15: 36,103,751 I188N probably damaging Het
Rgs3 G T 4: 62,652,709 probably benign Het
Rpl4 T A 9: 64,174,939 V40D probably damaging Het
Sox4 A T 13: 28,952,807 I72N possibly damaging Het
Syne1 A C 10: 5,405,456 V375G probably damaging Het
Tfrc G T 16: 32,628,551 D662Y probably damaging Het
Ubqln5 T C 7: 104,128,427 R397G possibly damaging Het
Unc13d T C 11: 116,073,869 D257G probably damaging Het
Vmn1r160 A T 7: 22,871,443 N74Y probably damaging Het
Vmn1r168 T A 7: 23,541,645 I309N possibly damaging Het
Vmn1r20 T C 6: 57,431,740 L17P probably damaging Het
Wdr19 A G 5: 65,215,820 I142V possibly damaging Het
Zan A T 5: 137,425,597 I2680N unknown Het
Zbtb20 T C 16: 43,610,661 F512L 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
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
IGL02693:Phkb APN 8 85942234 missense probably damaging 1.00
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
X0021:Phkb UTSW 8 86029635 missense probably damaging 1.00
Posted On2014-02-04