Incidental Mutation 'R5538:Phkb'
ID 484529
Institutional Source Beutler Lab
Gene Symbol Phkb
Ensembl Gene ENSMUSG00000036879
Gene Name phosphorylase kinase beta
Synonyms
MMRRC Submission 043096-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R5538 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 86567588-86788005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86648756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 191 (V191I)
Ref Sequence ENSEMBL: ENSMUSP00000050788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053771] [ENSMUST00000160611] [ENSMUST00000161850]
AlphaFold Q7TSH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000053771
AA Change: V191I

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: V191I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 870 1.5e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159882
Predicted Effect probably benign
Transcript: ENSMUST00000160611
SMART Domains Protein: ENSMUSP00000125690
Gene: ENSMUSG00000036879

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 164 3.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161850
AA Change: V199I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124939
Gene: ENSMUSG00000036879
AA Change: V199I

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 47 206 3.9e-40 PFAM
Meta Mutation Damage Score 0.2508 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 94% (73/78)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C A 13: 81,581,808 (GRCm39) R4745S probably benign Het
Ank3 A G 10: 69,823,257 (GRCm39) E642G probably damaging Het
Arhgap11a G T 2: 113,667,875 (GRCm39) D375E probably benign Het
Arl8b C A 6: 108,760,297 (GRCm39) L28M probably damaging Het
Bbs2 G A 8: 94,816,391 (GRCm39) T157M probably damaging Het
C2cd3 T A 7: 100,104,700 (GRCm39) probably null Het
C6 T A 15: 4,844,311 (GRCm39) I911N possibly damaging Het
Cc2d2a T C 5: 43,852,518 (GRCm39) I365T possibly damaging Het
Cd46 T G 1: 194,750,478 (GRCm39) probably null Het
Ceacam3 A T 7: 16,892,346 (GRCm39) D363V probably damaging Het
Cep63 A T 9: 102,465,992 (GRCm39) L678* probably null Het
Clasrp A C 7: 19,318,707 (GRCm39) probably benign Het
Clk2 T A 3: 89,082,962 (GRCm39) Y412N probably damaging Het
Col24a1 C T 3: 144,998,882 (GRCm39) A5V probably damaging Het
Cox16 T C 12: 81,531,703 (GRCm39) N13D possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dhx32 A T 7: 133,324,946 (GRCm39) M437K probably benign Het
Dnm2 T C 9: 21,416,923 (GRCm39) F819L probably benign Het
Dpysl4 A G 7: 138,671,906 (GRCm39) T85A probably benign Het
Dspp A T 5: 104,323,096 (GRCm39) K80* probably null Het
Dync2h1 T C 9: 7,168,630 (GRCm39) probably benign Het
Ern1 A G 11: 106,312,727 (GRCm39) V218A possibly damaging Het
Fbn2 G A 18: 58,204,973 (GRCm39) R1157C probably benign Het
Fez1 T A 9: 36,780,172 (GRCm39) I323N probably damaging Het
Fmo9 T A 1: 166,501,198 (GRCm39) T199S probably benign Het
Fry T A 5: 150,419,313 (GRCm39) L915Q probably damaging Het
Gatd1 A G 7: 140,986,758 (GRCm39) probably benign Het
Gm10719 T C 9: 3,018,962 (GRCm39) L69S probably benign Het
Gnpda2 A T 5: 69,735,394 (GRCm39) H230Q probably damaging Het
Gramd1c T A 16: 43,802,455 (GRCm39) N652I probably damaging Het
H2-T13 T A 17: 36,392,178 (GRCm39) H178L probably benign Het
Hells T A 19: 38,942,096 (GRCm39) F462Y probably benign Het
Htr7 A G 19: 35,947,235 (GRCm39) F260L probably benign Het
Itsn1 C A 16: 91,580,990 (GRCm39) A23D probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Kctd16 T A 18: 40,390,319 (GRCm39) Y97* probably null Het
Kif20b A T 19: 34,930,364 (GRCm39) K25* probably null Het
Klf2 T C 8: 73,073,316 (GRCm39) L40P probably damaging Het
Kmt2a A G 9: 44,731,639 (GRCm39) probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lonrf1 T A 8: 36,690,178 (GRCm39) probably null Het
Lrp1b A T 2: 40,587,486 (GRCm39) I154K unknown Het
Mybpc1 T A 10: 88,381,891 (GRCm39) I600L possibly damaging Het
Npnt T C 3: 132,610,724 (GRCm39) N285S probably damaging Het
Or4c12b T A 2: 89,646,964 (GRCm39) F92Y probably damaging Het
Or51h5 A G 7: 102,577,728 (GRCm39) T298A probably damaging Het
Or6c69 T A 10: 129,747,871 (GRCm39) Y92F probably benign Het
Or6n1 T C 1: 173,917,544 (GRCm39) *313R probably null Het
Pcnx1 T C 12: 81,907,183 (GRCm39) V13A probably damaging Het
Pnpla6 A G 8: 3,581,508 (GRCm39) M594V probably benign Het
Potefam3e A C 8: 19,799,430 (GRCm39) probably null Het
Prkdc A G 16: 15,469,333 (GRCm39) E146G probably damaging Het
Ror1 T C 4: 100,298,208 (GRCm39) M527T probably benign Het
Scnm1 A G 3: 95,037,066 (GRCm39) probably benign Het
Skint11 A T 4: 114,088,959 (GRCm39) N251I probably damaging Het
Slc19a3 T A 1: 83,000,282 (GRCm39) N245I possibly damaging Het
Slc1a3 A T 15: 8,675,188 (GRCm39) D272E probably damaging Het
Smok2b T A 17: 13,454,440 (GRCm39) V200D possibly damaging Het
Sspo T C 6: 48,429,112 (GRCm39) Y417H probably damaging Het
Stk11ip C A 1: 75,504,979 (GRCm39) S388R probably damaging Het
Svep1 T C 4: 58,049,282 (GRCm39) probably null Het
Sytl2 A G 7: 90,038,114 (GRCm39) I525V probably benign Het
Tie1 T C 4: 118,343,390 (GRCm39) N158D probably benign Het
Tle2 T C 10: 81,416,418 (GRCm39) L180P probably damaging Het
Txlnb T C 10: 17,714,657 (GRCm39) L363P probably damaging Het
Upk3b C G 5: 136,072,890 (GRCm39) A258G probably benign Het
Usp32 A T 11: 84,908,612 (GRCm39) D1031E possibly damaging Het
Vmn2r116 C T 17: 23,620,041 (GRCm39) L592F probably benign Het
Zfp607b A G 7: 27,402,294 (GRCm39) H250R probably damaging 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
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
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'- AGTATAGCAGAGGACTCATCGTAATG -3'
(R):5'- GCCGCATGCTTTGGATTCTTAG -3'

Sequencing Primer
(F):5'- GACCAGAAGTTCAAGGTCATCTTTGG -3'
(R):5'- AGTGCAGTTCGGTACTAC -3'
Posted On 2017-08-08