Incidental Mutation 'R8811:Phkb'
ID 672411
Institutional Source Beutler Lab
Gene Symbol Phkb
Ensembl Gene ENSMUSG00000036879
Gene Name phosphorylase kinase beta
Synonyms
MMRRC Submission 068646-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R8811 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 86567588-86788005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86745156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 611 (V611A)
Ref Sequence ENSEMBL: ENSMUSP00000050788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053771]
AlphaFold Q7TSH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000053771
AA Change: V611A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: V611A

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 870 1.5e-111 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879
AA Change: V41A

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 26 301 2.2e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (54/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T G 17: 24,536,212 (GRCm39) K485T probably benign Het
Abcc12 G T 8: 87,280,023 (GRCm39) L337M probably damaging Het
Adcy4 T C 14: 56,010,221 (GRCm39) D687G probably benign Het
Aldoc T A 11: 78,215,610 (GRCm39) I98N probably damaging Het
Aoah T A 13: 21,184,121 (GRCm39) V395D probably damaging Het
Arap1 C T 7: 101,036,403 (GRCm39) R397W probably damaging Het
Arl16 A T 11: 120,357,526 (GRCm39) M63K probably damaging Het
Atf7 T C 15: 102,502,144 (GRCm39) D4G probably damaging Het
Atp6v0d2 A T 4: 19,922,397 (GRCm39) V34D probably benign Het
Calhm4 T A 10: 33,917,661 (GRCm39) K263N probably benign Het
Camk1g C G 1: 193,044,408 (GRCm39) G2A probably damaging Het
Cenpe A G 3: 134,929,001 (GRCm39) T302A probably damaging Het
Cps1 T C 1: 67,253,246 (GRCm39) V1246A probably benign Het
Csmd3 T C 15: 47,560,139 (GRCm39) D1397G Het
Ddx39b T A 17: 35,463,435 (GRCm39) S115T probably benign Het
Dnaja3 C A 16: 4,514,383 (GRCm39) T305K probably benign Het
Dusp7 C G 9: 106,248,241 (GRCm39) H290D probably benign Het
Emilin2 T A 17: 71,582,282 (GRCm39) D148V possibly damaging Het
Erbin C T 13: 104,022,824 (GRCm39) R5Q probably damaging Het
Fam3b T C 16: 97,313,715 (GRCm39) probably benign Het
Foxn3 T C 12: 99,162,951 (GRCm39) S317G probably benign Het
Gipc1 T A 8: 84,388,919 (GRCm39) M177K possibly damaging Het
Grpel2 A C 18: 61,851,823 (GRCm39) probably benign Het
Htr1a G C 13: 105,581,101 (GRCm39) A114P probably damaging Het
Iqch A T 9: 63,452,195 (GRCm39) M210K possibly damaging Het
Kdelr3 T C 15: 79,410,052 (GRCm39) I179T possibly damaging Het
Lat2 C T 5: 134,635,553 (GRCm39) probably benign Het
Mcrip1 A G 11: 120,435,605 (GRCm39) V10A probably damaging Het
Mib1 C T 18: 10,755,643 (GRCm39) L350F probably benign Het
Nhlrc2 T A 19: 56,583,344 (GRCm39) V605E probably benign Het
Nup133 AAGAGA AAGA 8: 124,638,627 (GRCm39) 900 probably null Het
Nutm2 A T 13: 50,623,989 (GRCm39) I229F probably benign Het
Or6f1 G A 7: 85,970,989 (GRCm39) T57M probably damaging Het
Polg2 A T 11: 106,670,208 (GRCm39) Y21N probably benign Het
Prss28 T A 17: 25,528,627 (GRCm39) I23N probably benign Het
Ptprz1 G A 6: 23,030,661 (GRCm39) V1856I probably benign Het
Slc22a22 A T 15: 57,108,237 (GRCm39) I526N probably damaging Het
Slc24a4 T C 12: 102,180,133 (GRCm39) F68S probably damaging Het
Slc37a3 A G 6: 39,322,274 (GRCm39) S377P probably damaging Het
Smoc2 T C 17: 14,545,896 (GRCm39) S62P probably damaging Het
Sox4 A G 13: 29,136,911 (GRCm39) S32P probably damaging Het
Stxbp2 A T 8: 3,689,541 (GRCm39) Q426L Het
Synrg T G 11: 83,910,410 (GRCm39) S937A probably benign Het
Tbr1 C A 2: 61,642,196 (GRCm39) T487K possibly damaging Het
Tll2 T C 19: 41,195,012 (GRCm39) T25A probably benign Het
Trim31 T C 17: 37,210,875 (GRCm39) F169S probably benign Het
Tro G A X: 149,438,555 (GRCm39) S34L unknown Het
Tspear T C 10: 77,665,463 (GRCm39) F83S probably benign Het
Ubr5 C A 15: 38,041,123 (GRCm39) A254S Het
Ubtfl1 A G 9: 18,321,459 (GRCm39) E329G probably benign Het
Vmn2r45 A G 7: 8,474,881 (GRCm39) W716R probably damaging Het
Vmn2r67 T C 7: 84,799,895 (GRCm39) M448V probably damaging Het
Wwc2 T G 8: 48,336,579 (GRCm39) I228L possibly damaging Het
Zbtb20 T C 16: 43,430,857 (GRCm39) V383A probably benign 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
R5909:Phkb UTSW 8 86,748,076 (GRCm39) critical splice donor site probably null
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
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'- GTAGCCTAAATTACCCAGAGTTTG -3'
(R):5'- GGCTCAGCCTTCAAGTTTTCTG -3'

Sequencing Primer
(F):5'- CCTCTCAGTTAAGGATCCCA -3'
(R):5'- TCCATAGGTGAGCATGGGATCC -3'
Posted On 2021-04-30