Incidental Mutation 'R5909:Phkb'
ID 460852
Institutional Source Beutler Lab
Gene Symbol Phkb
Ensembl Gene ENSMUSG00000036879
Gene Name phosphorylase kinase beta
Synonyms
MMRRC Submission 044106-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R5909 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 86567588-86788005 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 86748076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000053771]
AlphaFold Q7TSH2
Predicted Effect probably null
Transcript: ENSMUST00000053771
SMART Domains Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 870 1.5e-111 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000160731
SMART Domains Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 26 301 2.2e-23 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T C 9: 30,873,224 (GRCm39) S810P probably benign Het
Adcy7 A T 8: 89,052,124 (GRCm39) I931F probably damaging Het
Alcam G T 16: 52,111,356 (GRCm39) Q248K probably benign Het
Astn1 A C 1: 158,429,507 (GRCm39) R750S probably damaging Het
Atp1a2 A T 1: 172,114,797 (GRCm39) N329K probably damaging Het
Bcl6 A G 16: 23,791,556 (GRCm39) V266A probably benign Het
Bdp1 A G 13: 100,228,794 (GRCm39) V278A probably benign Het
Ccdc162 T C 10: 41,437,111 (GRCm39) E493G probably damaging Het
Cpvl T C 6: 53,909,413 (GRCm39) Y241C probably damaging Het
Ddx55 T C 5: 124,704,913 (GRCm39) M390T probably benign Het
Ero1b A G 13: 12,594,139 (GRCm39) E102G probably benign Het
Etnk1 A G 6: 143,143,164 (GRCm39) D273G probably benign Het
Exoc3 A G 13: 74,347,643 (GRCm39) V109A probably damaging Het
F830016B08Rik T A 18: 60,433,091 (GRCm39) I58N probably damaging Het
Fancd2 T A 6: 113,538,672 (GRCm39) V589E probably benign Het
Fbll1 G A 11: 35,689,159 (GRCm39) R35C unknown Het
Fnbp1 A G 2: 30,938,211 (GRCm39) probably null Het
Glce G T 9: 61,967,426 (GRCm39) A575D probably damaging Het
Ift20 T A 11: 78,430,867 (GRCm39) M70K possibly damaging Het
Impg2 T C 16: 56,078,499 (GRCm39) V487A probably damaging Het
Isx A G 8: 75,619,426 (GRCm39) D206G probably benign Het
Jak3 A G 8: 72,136,875 (GRCm39) I684V possibly damaging Het
Kdm5d G A Y: 941,306 (GRCm39) S1169N probably benign Het
Krt35 A T 11: 99,986,639 (GRCm39) L125Q probably damaging Het
Lama4 G A 10: 38,948,855 (GRCm39) A873T probably benign Het
Lrch4 T C 5: 137,632,127 (GRCm39) S74P possibly damaging Het
Maneal A T 4: 124,750,966 (GRCm39) Y263* probably null Het
Mcat C T 15: 83,432,116 (GRCm39) A251T probably benign Het
Mup3 T G 4: 62,004,244 (GRCm39) T90P probably benign Het
Mybpc2 G A 7: 44,156,515 (GRCm39) A812V probably damaging Het
Naa15 T C 3: 51,367,485 (GRCm39) F503L probably damaging Het
Nudt8 T C 19: 4,050,727 (GRCm39) L25S possibly damaging Het
Oas1e A T 5: 120,926,972 (GRCm39) V245D probably damaging Het
Ofcc1 A G 13: 40,417,054 (GRCm39) M109T possibly damaging Het
Or4c58 A G 2: 89,674,735 (GRCm39) V194A possibly damaging Het
Or4p18 A T 2: 88,232,535 (GRCm39) F248I probably damaging Het
Pidd1 A C 7: 141,021,183 (GRCm39) L365R probably damaging Het
Pira12 G A 7: 3,900,621 (GRCm39) T43I probably damaging Het
Pkd1l2 G A 8: 117,750,795 (GRCm39) R1739C probably benign Het
Pkdrej A T 15: 85,702,497 (GRCm39) D1146E possibly damaging Het
Pkhd1l1 G T 15: 44,390,159 (GRCm39) W1425L probably damaging Het
Plxna4 A G 6: 32,494,181 (GRCm39) L145P probably damaging Het
Plxnd1 G T 6: 115,945,649 (GRCm39) D941E probably benign Het
Prdm13 G T 4: 21,683,894 (GRCm39) Q126K unknown Het
Rbm25 T A 12: 83,728,362 (GRCm39) V837E probably damaging Het
Rcc2 T A 4: 140,444,379 (GRCm39) Y357N probably damaging Het
Siglec1 A T 2: 130,919,884 (GRCm39) N882K probably damaging Het
Sox13 A G 1: 133,311,627 (GRCm39) I535T probably benign Het
Srrm2 T C 17: 24,040,291 (GRCm39) S2408P probably benign Het
Stat3 G A 11: 100,794,556 (GRCm39) T251I probably benign Het
Sulf1 A T 1: 12,929,039 (GRCm39) D102V possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmem145 G T 7: 25,007,618 (GRCm39) L208F possibly damaging Het
Trim17 A T 11: 58,859,506 (GRCm39) E240V probably damaging Het
Trim43b A T 9: 88,967,451 (GRCm39) I395K possibly damaging Het
Trmt61a C A 12: 111,647,292 (GRCm39) H130N probably damaging Het
Unc5b A C 10: 60,608,138 (GRCm39) L654R probably damaging Het
Vmn1r66 A T 7: 10,008,269 (GRCm39) S255T probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zbtb10 T C 3: 9,345,109 (GRCm39) F677S probably benign Het
Zfp493 T A 13: 67,934,717 (GRCm39) C223* probably null Het
Other mutations in Phkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Phkb APN 8 86,684,216 (GRCm39) missense probably benign 0.42
IGL01126:Phkb APN 8 86,672,730 (GRCm39) missense probably benign 0.12
IGL01700:Phkb APN 8 86,744,094 (GRCm39) missense probably benign 0.06
IGL01761:Phkb APN 8 86,745,693 (GRCm39) missense probably benign 0.01
IGL02404:Phkb APN 8 86,604,744 (GRCm39) missense possibly damaging 0.94
IGL02672:Phkb APN 8 86,668,987 (GRCm39) missense probably benign
IGL02682:Phkb APN 8 86,602,275 (GRCm39) makesense probably null
IGL02693:Phkb APN 8 86,668,863 (GRCm39) missense probably damaging 1.00
IGL02798:Phkb APN 8 86,770,406 (GRCm39) missense probably benign
IGL02888:Phkb APN 8 86,662,101 (GRCm39) critical splice donor site probably null
IGL03106:Phkb APN 8 86,745,095 (GRCm39) splice site probably benign
PIT4544001:Phkb UTSW 8 86,738,266 (GRCm39) missense probably benign 0.42
R0088:Phkb UTSW 8 86,669,020 (GRCm39) critical splice donor site probably null
R0107:Phkb UTSW 8 86,743,560 (GRCm39) missense probably benign 0.01
R0504:Phkb UTSW 8 86,783,153 (GRCm39) missense probably benign
R0569:Phkb UTSW 8 86,744,031 (GRCm39) missense probably damaging 1.00
R0671:Phkb UTSW 8 86,602,322 (GRCm39) missense probably damaging 0.97
R0894:Phkb UTSW 8 86,744,070 (GRCm39) missense probably damaging 1.00
R1491:Phkb UTSW 8 86,602,286 (GRCm39) missense possibly damaging 0.90
R1502:Phkb UTSW 8 86,785,968 (GRCm39) missense possibly damaging 0.69
R1595:Phkb UTSW 8 86,753,182 (GRCm39) splice site probably benign
R1686:Phkb UTSW 8 86,748,278 (GRCm39) missense probably benign
R1913:Phkb UTSW 8 86,628,549 (GRCm39) missense possibly damaging 0.95
R1919:Phkb UTSW 8 86,648,790 (GRCm39) missense probably benign 0.17
R1968:Phkb UTSW 8 86,697,580 (GRCm39) missense probably benign 0.07
R2008:Phkb UTSW 8 86,783,096 (GRCm39) missense probably damaging 1.00
R2051:Phkb UTSW 8 86,776,450 (GRCm39) critical splice donor site probably null
R2148:Phkb UTSW 8 86,744,115 (GRCm39) missense probably damaging 0.96
R2305:Phkb UTSW 8 86,770,431 (GRCm39) missense possibly damaging 0.80
R3801:Phkb UTSW 8 86,648,858 (GRCm39) nonsense probably null
R3804:Phkb UTSW 8 86,648,858 (GRCm39) nonsense probably null
R4159:Phkb UTSW 8 86,748,162 (GRCm39) splice site probably null
R4624:Phkb UTSW 8 86,575,341 (GRCm39) intron probably benign
R4833:Phkb UTSW 8 86,628,540 (GRCm39) missense probably damaging 1.00
R5017:Phkb UTSW 8 86,776,438 (GRCm39) missense probably benign
R5169:Phkb UTSW 8 86,623,120 (GRCm39) missense probably benign 0.01
R5337:Phkb UTSW 8 86,604,874 (GRCm39) missense probably damaging 1.00
R5391:Phkb UTSW 8 86,744,097 (GRCm39) missense probably damaging 1.00
R5395:Phkb UTSW 8 86,744,097 (GRCm39) missense probably damaging 1.00
R5480:Phkb UTSW 8 86,648,811 (GRCm39) missense probably damaging 1.00
R5538:Phkb UTSW 8 86,648,756 (GRCm39) missense possibly damaging 0.80
R5623:Phkb UTSW 8 86,569,677 (GRCm39) unclassified probably benign
R5753:Phkb UTSW 8 86,604,859 (GRCm39) missense probably damaging 1.00
R5929:Phkb UTSW 8 86,697,543 (GRCm39) missense probably benign 0.01
R6093:Phkb UTSW 8 86,668,958 (GRCm39) missense probably damaging 1.00
R6320:Phkb UTSW 8 86,602,327 (GRCm39) missense probably benign 0.00
R6324:Phkb UTSW 8 86,745,171 (GRCm39) missense probably benign 0.00
R6626:Phkb UTSW 8 86,648,780 (GRCm39) missense probably damaging 0.96
R6687:Phkb UTSW 8 86,756,175 (GRCm39) missense probably damaging 1.00
R6848:Phkb UTSW 8 86,756,246 (GRCm39) missense probably damaging 0.99
R7228:Phkb UTSW 8 86,569,636 (GRCm39) unclassified probably benign
R7260:Phkb UTSW 8 86,604,759 (GRCm39) missense probably benign 0.07
R7271:Phkb UTSW 8 86,770,418 (GRCm39) missense probably damaging 1.00
R7314:Phkb UTSW 8 86,669,021 (GRCm39) splice site probably null
R7586:Phkb UTSW 8 86,756,226 (GRCm39) missense probably damaging 1.00
R7654:Phkb UTSW 8 86,667,516 (GRCm39) missense possibly damaging 0.91
R7958:Phkb UTSW 8 86,748,292 (GRCm39) missense probably benign 0.00
R8269:Phkb UTSW 8 86,756,211 (GRCm39) missense probably benign 0.42
R8811:Phkb UTSW 8 86,745,156 (GRCm39) missense possibly damaging 0.58
R8967:Phkb UTSW 8 86,756,063 (GRCm39) intron probably benign
R9176:Phkb UTSW 8 86,697,623 (GRCm39) missense probably damaging 0.96
R9350:Phkb UTSW 8 86,743,493 (GRCm39) nonsense probably null
R9465:Phkb UTSW 8 86,623,059 (GRCm39) missense probably damaging 1.00
R9480:Phkb UTSW 8 86,684,216 (GRCm39) missense probably benign 0.42
R9490:Phkb UTSW 8 86,628,525 (GRCm39) missense probably damaging 0.97
R9700:Phkb UTSW 8 86,567,696 (GRCm39) missense probably benign 0.01
R9708:Phkb UTSW 8 86,783,119 (GRCm39) missense probably benign 0.02
R9716:Phkb UTSW 8 86,604,798 (GRCm39) missense probably null 0.00
X0021:Phkb UTSW 8 86,756,264 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGCCTGTAATTCAAAGAACAGAG -3'
(R):5'- GTACTGCTCTGCCGTTTGAC -3'

Sequencing Primer
(F):5'- CTGTAATTCAAAGAACAGAGAGACC -3'
(R):5'- CTGCCGTTTGACTTTTGAATGC -3'
Posted On 2017-02-28