Incidental Mutation 'R7260:Phkb'
ID 564543
Institutional Source Beutler Lab
Gene Symbol Phkb
Ensembl Gene ENSMUSG00000036879
Gene Name phosphorylase kinase beta
Synonyms
MMRRC Submission 045352-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R7260 (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 A at 86604759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 55 (Y55N)
Ref Sequence ENSEMBL: ENSMUSP00000050788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053771] [ENSMUST00000160611] [ENSMUST00000161850] [ENSMUST00000162464] [ENSMUST00000162981]
AlphaFold Q7TSH2
Predicted Effect probably benign
Transcript: ENSMUST00000053771
AA Change: Y55N

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: Y55N

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 870 1.5e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160611
AA Change: Y55N

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125690
Gene: ENSMUSG00000036879
AA Change: Y55N

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 164 3.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161850
AA Change: Y63N

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124939
Gene: ENSMUSG00000036879
AA Change: Y63N

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 47 206 3.9e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162464
AA Change: Y55N

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125197
Gene: ENSMUSG00000036879
AA Change: Y55N

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 163 7.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162981
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (78/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A G 10: 28,849,882 (GRCm39) S293P probably benign Het
Actn2 T C 13: 12,291,376 (GRCm39) N676S probably benign Het
Amfr C T 8: 94,702,776 (GRCm39) M463I possibly damaging Het
Ankdd1a G T 9: 65,411,834 (GRCm39) A325D probably damaging Het
Apba2 A G 7: 64,389,493 (GRCm39) D463G probably damaging Het
Arid5b A G 10: 67,933,637 (GRCm39) V755A probably damaging Het
Boc A T 16: 44,310,533 (GRCm39) F796I Het
Ccnt1 G A 15: 98,463,005 (GRCm39) Q56* probably null Het
Cd248 T A 19: 5,119,383 (GRCm39) Y410* probably null Het
Chd9 T A 8: 91,721,171 (GRCm39) N986K unknown Het
Col6a6 T C 9: 105,661,168 (GRCm39) T314A probably benign Het
Cpped1 A G 16: 11,646,327 (GRCm39) F142L possibly damaging Het
Csmd1 C T 8: 16,050,574 (GRCm39) A2221T probably damaging Het
Cyp2c69 C A 19: 39,831,344 (GRCm39) V490L probably benign Het
Cyrib A T 15: 63,829,438 (GRCm39) F23L possibly damaging Het
Dcst2 T C 3: 89,273,593 (GRCm39) F157S probably damaging Het
Ddx54 G T 5: 120,764,985 (GRCm39) R788L probably benign Het
Dnah1 T C 14: 30,991,343 (GRCm39) Y3145C probably damaging Het
Dnah14 A T 1: 181,534,309 (GRCm39) R2320W probably damaging Het
Dnai3 T A 3: 145,752,295 (GRCm39) M794L probably benign Het
Emilin2 T C 17: 71,581,785 (GRCm39) T314A probably benign Het
Eml2 A G 7: 18,934,515 (GRCm39) S405G probably benign Het
Ephb2 A G 4: 136,498,885 (GRCm39) F65L probably damaging Het
Fbn2 T C 18: 58,199,188 (GRCm39) D1360G probably benign Het
Fbxo22 A G 9: 55,125,754 (GRCm39) T206A probably benign Het
Filip1l A G 16: 57,391,287 (GRCm39) E625G probably damaging Het
Gen1 A C 12: 11,306,849 (GRCm39) M172R probably damaging Het
Gk5 A G 9: 96,001,663 (GRCm39) K54E probably benign Het
Glis3 T C 19: 28,508,802 (GRCm39) E394G probably benign Het
Helq T A 5: 100,939,793 (GRCm39) E373D probably damaging Het
Ighv1-74 A G 12: 115,766,372 (GRCm39) F83L probably benign Het
Ints15 A G 5: 143,297,594 (GRCm39) V151A probably benign Het
Iqcn T C 8: 71,161,397 (GRCm39) Y197H probably benign Het
Kdm4d T C 9: 14,374,454 (GRCm39) D468G probably benign Het
Kif20b A G 19: 34,927,610 (GRCm39) I957M probably damaging Het
Ldhal6b A G 17: 5,468,535 (GRCm39) F133S possibly damaging Het
Loxhd1 T C 18: 77,420,338 (GRCm39) Y321H possibly damaging Het
Ltbp1 A T 17: 75,373,139 (GRCm39) M261L probably benign Het
Mical2 A T 7: 111,919,001 (GRCm39) Q430L probably benign Het
Mroh4 A T 15: 74,479,978 (GRCm39) N885K possibly damaging Het
Ms4a7 A G 19: 11,299,710 (GRCm39) Y231H probably damaging Het
Msh2 G T 17: 88,025,047 (GRCm39) V642F probably damaging Het
Muc5b G T 7: 141,396,385 (GRCm39) A166S unknown Het
Myo18b T C 5: 112,923,154 (GRCm39) I1868V probably benign Het
Nfatc3 T C 8: 106,835,578 (GRCm39) S975P probably benign Het
Oacyl T C 18: 65,831,438 (GRCm39) L25P probably damaging Het
Or12e10 A G 2: 87,640,731 (GRCm39) N189S probably damaging Het
Or5b109 T C 19: 13,212,388 (GRCm39) F258S probably damaging Het
Or5w15 T C 2: 87,568,852 (GRCm39) probably null Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or8a1 T A 9: 37,642,049 (GRCm39) I77F probably damaging Het
Patj A G 4: 98,304,970 (GRCm39) I275V possibly damaging Het
Pdcd11 G A 19: 47,117,673 (GRCm39) R1674Q possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pias4 A G 10: 80,993,302 (GRCm39) V207A possibly damaging Het
Plxna4 C A 6: 32,216,455 (GRCm39) R540L possibly damaging Het
Psapl1 G A 5: 36,362,556 (GRCm39) V383M probably benign Het
Rars1 C A 11: 35,725,281 (GRCm39) A10S probably benign Het
Rhobtb1 A T 10: 69,106,610 (GRCm39) K454* probably null Het
Rmnd1 A T 10: 4,364,803 (GRCm39) probably null Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rngtt T C 4: 33,356,176 (GRCm39) S338P possibly damaging Het
Sh3bgr A G 16: 96,025,681 (GRCm39) E189G unknown Het
Slc30a3 G A 5: 31,245,690 (GRCm39) T281I probably damaging Het
Smok3c T A 5: 138,063,885 (GRCm39) D457E possibly damaging Het
Stard9 C A 2: 120,537,419 (GRCm39) Q4274K possibly damaging Het
Syne2 G T 12: 75,991,853 (GRCm39) L1938F probably damaging Het
Tmem70 C A 1: 16,735,590 (GRCm39) T20K possibly damaging Het
Tnrc6a A G 7: 122,785,813 (GRCm39) E1502G probably benign Het
Tpp1 A T 7: 105,396,704 (GRCm39) S438T probably benign Het
Tubb2a T A 13: 34,259,397 (GRCm39) Q131L probably damaging Het
Ube2v1 A G 2: 167,471,114 (GRCm39) S26P probably benign Het
Unc13a G T 8: 72,113,229 (GRCm39) S207R possibly damaging Het
Usp35 T G 7: 96,969,286 (GRCm39) D362A probably damaging Het
Utp20 A G 10: 88,587,334 (GRCm39) I2487T probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r117 T A 17: 23,694,359 (GRCm39) H496L probably benign Het
Vmn2r92 C T 17: 18,387,138 (GRCm39) A159V probably damaging Het
Wiz T C 17: 32,578,085 (GRCm39) K467E probably damaging Het
Zfp534 T C 4: 147,759,461 (GRCm39) T403A probably benign Het
Zswim5 T C 4: 116,819,843 (GRCm39) L416P 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
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
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'- ATGCTCTAAGTAGTTGGAGGCTTTC -3'
(R):5'- ATTCTATAAAACTCGTCCACGTGG -3'

Sequencing Primer
(F):5'- GAGGCTTTCTTCGCATGTATAAAGAC -3'
(R):5'- TAAAACTCGTCCACGTGGAGTTAGC -3'
Posted On 2019-06-26