Incidental Mutation 'R1686:Phkb'
ID 189349
Institutional Source Beutler Lab
Gene Symbol Phkb
Ensembl Gene ENSMUSG00000036879
Gene Name phosphorylase kinase beta
Synonyms
MMRRC Submission 039719-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.877) question?
Stock # R1686 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 86567588-86788005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86748278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 706 (I706V)
Ref Sequence ENSEMBL: ENSMUSP00000050788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053771]
AlphaFold Q7TSH2
Predicted Effect probably benign
Transcript: ENSMUST00000053771
AA Change: I706V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050788
Gene: ENSMUSG00000036879
AA Change: I706V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 39 870 1.5e-111 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000160731
AA Change: I136V
SMART Domains Protein: ENSMUSP00000125051
Gene: ENSMUSG00000036879
AA Change: I136V

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 26 301 2.2e-23 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (85/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G A 10: 100,448,722 (GRCm39) V400I probably damaging Het
Abcb1b A G 5: 8,848,782 (GRCm39) N14S probably damaging Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrg3 A G 8: 95,759,997 (GRCm39) N72S probably benign Het
Akain1 T A 17: 69,746,527 (GRCm39) F3I possibly damaging Het
Akr1c21 T C 13: 4,627,452 (GRCm39) L182P probably damaging Het
Arhgap21 A T 2: 20,886,659 (GRCm39) Y12N probably damaging Het
Aup1 A T 6: 83,032,226 (GRCm39) H131L probably damaging Het
Bag6 A G 17: 35,363,928 (GRCm39) T812A possibly damaging Het
Bmp2k A G 5: 97,211,392 (GRCm39) Y520C unknown Het
Calm4 T G 13: 3,888,302 (GRCm39) V136G probably damaging Het
Catsper2 A G 2: 121,230,523 (GRCm39) probably null Het
Cc2d2a A G 5: 43,896,713 (GRCm39) T1537A possibly damaging Het
Cntn2 A T 1: 132,454,049 (GRCm39) V319D possibly damaging Het
Cux1 G A 5: 136,304,235 (GRCm39) R1314* probably null Het
Cxcl12 A G 6: 117,150,508 (GRCm39) I79V probably damaging Het
Cyp2j6 T C 4: 96,412,014 (GRCm39) D418G probably benign Het
Ddx28 G C 8: 106,737,190 (GRCm39) D289E probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a A C 1: 24,068,887 (GRCm39) S448A probably benign Het
Fbxo33 G T 12: 59,251,626 (GRCm39) N30K possibly damaging Het
Fgf12 A C 16: 28,217,093 (GRCm39) Y21D probably damaging Het
Galntl5 C T 5: 25,415,432 (GRCm39) S288L probably benign Het
Gart G T 16: 91,422,237 (GRCm39) A760D probably damaging Het
Gba2 A T 4: 43,573,869 (GRCm39) probably benign Het
Gm10518 C A 1: 179,631,357 (GRCm39) S139* probably null Het
Gm4781 A T 10: 100,232,837 (GRCm39) noncoding transcript Het
Gm9790 A G 3: 85,823,156 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,893,075 (GRCm39) G127R probably damaging Het
Golim4 A T 3: 75,802,443 (GRCm39) V283E probably benign Het
Gprc5a A T 6: 135,055,918 (GRCm39) I122F possibly damaging Het
Gzmc T C 14: 56,471,341 (GRCm39) K67E probably benign Het
Hapln3 C A 7: 78,771,638 (GRCm39) V84L probably benign Het
Hif3a T A 7: 16,778,789 (GRCm39) N377Y possibly damaging Het
Ifi211 G A 1: 173,726,969 (GRCm39) H392Y probably damaging Het
Iqgap3 T A 3: 88,015,663 (GRCm39) probably benign Het
Itga10 T A 3: 96,559,141 (GRCm39) F410Y probably damaging Het
Jup T C 11: 100,263,260 (GRCm39) Y705C probably damaging Het
Khsrp C T 17: 57,332,597 (GRCm39) A228T probably benign Het
Lmntd2 C T 7: 140,790,998 (GRCm39) G445D probably damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Magel2 T A 7: 62,027,988 (GRCm39) H297Q possibly damaging Het
Mbd6 T C 10: 127,123,286 (GRCm39) E33G probably damaging Het
Mob3b A G 4: 34,985,910 (GRCm39) probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mymk A T 2: 26,952,346 (GRCm39) W174R probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nipal3 T C 4: 135,174,599 (GRCm39) Y384C possibly damaging Het
Nt5c3b A G 11: 100,330,920 (GRCm39) probably benign Het
Obox6 T A 7: 15,567,750 (GRCm39) L232F probably damaging Het
Obscn A C 11: 58,997,113 (GRCm39) probably benign Het
Or7g12 T C 9: 18,899,839 (GRCm39) L185P probably damaging Het
Plcb2 A G 2: 118,546,168 (GRCm39) probably benign Het
Plek2 T C 12: 78,941,184 (GRCm39) D216G probably damaging Het
Plxnb2 T C 15: 89,046,665 (GRCm39) Y855C probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Psma7 A T 2: 179,679,215 (GRCm39) D184E probably benign Het
Rai14 T A 15: 10,592,282 (GRCm39) L204F probably damaging Het
Ralgapa2 A G 2: 146,199,920 (GRCm39) V1208A probably benign Het
Rapgef6 A G 11: 54,582,458 (GRCm39) R67G possibly damaging Het
Ryr2 C T 13: 11,618,665 (GRCm39) probably benign Het
Satb1 T C 17: 52,047,027 (GRCm39) S763G probably benign Het
Sdk1 A T 5: 142,020,292 (GRCm39) H690L probably benign Het
Sfrp5 A C 19: 42,190,143 (GRCm39) V103G possibly damaging Het
Six6 A G 12: 72,988,451 (GRCm39) E208G probably benign Het
Sspo A T 6: 48,437,334 (GRCm39) H1364L probably benign Het
Stard9 A T 2: 120,529,973 (GRCm39) T2077S probably benign Het
Tacr3 T C 3: 134,535,254 (GRCm39) L74P probably damaging Het
Tep1 T C 14: 51,074,245 (GRCm39) E1880G probably benign Het
Tgfb3 A T 12: 86,116,517 (GRCm39) probably benign Het
Thap7 G A 16: 17,346,576 (GRCm39) P136S probably damaging Het
Thoc2l T A 5: 104,667,789 (GRCm39) Y770* probably null Het
Tmc2 T C 2: 130,098,036 (GRCm39) V717A possibly damaging Het
Usp43 T A 11: 67,778,593 (GRCm39) S446C probably damaging Het
Vwa3a C T 7: 120,379,371 (GRCm39) S492L probably damaging Het
Wdhd1 T A 14: 47,493,672 (GRCm39) N16I probably damaging Het
Wdr95 A T 5: 149,516,566 (GRCm39) D327V probably damaging Het
Zfp128 T G 7: 12,624,563 (GRCm39) Y310* 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
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
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'- GAGACTTTGACTCAATCCCCAGCAC -3'
(R):5'- TTCTCTCAGAGGACACGAAGGCAC -3'

Sequencing Primer
(F):5'- AGAGCAGCTTGACTTTCTACG -3'
(R):5'- GCACACAGCCTGACTGAGAG -3'
Posted On 2014-05-14