Incidental Mutation 'R7655:Phkg2'
ID 591138
Institutional Source Beutler Lab
Gene Symbol Phkg2
Ensembl Gene ENSMUSG00000030815
Gene Name phosphorylase kinase, gamma 2 (testis)
Synonyms 1500017I02Rik
MMRRC Submission 045731-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.550) question?
Stock # R7655 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 127172512-127182479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127182074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 365 (G365D)
Ref Sequence ENSEMBL: ENSMUSP00000033086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033086] [ENSMUST00000072155] [ENSMUST00000121004] [ENSMUST00000146383] [ENSMUST00000154891] [ENSMUST00000205633]
AlphaFold Q9DB30
Predicted Effect probably damaging
Transcript: ENSMUST00000033086
AA Change: G365D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815
AA Change: G365D

DomainStartEndE-ValueType
S_TKc 24 291 6.4e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072155
SMART Domains Protein: ENSMUSP00000072019
Gene: ENSMUSG00000057176

DomainStartEndE-ValueType
Pfam:CLAMP 130 228 3.1e-37 PFAM
low complexity region 243 274 N/A INTRINSIC
coiled coil region 285 319 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121004
AA Change: G365D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815
AA Change: G365D

DomainStartEndE-ValueType
S_TKc 24 291 6.4e-104 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146383
SMART Domains Protein: ENSMUSP00000115593
Gene: ENSMUSG00000030815

DomainStartEndE-ValueType
Pfam:Pkinase 24 85 8.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154891
SMART Domains Protein: ENSMUSP00000116860
Gene: ENSMUSG00000030815

DomainStartEndE-ValueType
Pfam:Pkinase 24 78 4.5e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205633
Predicted Effect probably benign
Transcript: ENSMUST00000205839
Predicted Effect probably benign
Transcript: ENSMUST00000206818
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. 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 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abitram A G 4: 56,804,218 (GRCm39) I78V probably benign Het
Acot2 A G 12: 84,039,691 (GRCm39) Y400C probably benign Het
Agbl1 A G 7: 76,059,080 (GRCm39) M237V Het
Atrnl1 C A 19: 57,599,811 (GRCm39) S9* probably null Het
BC031181 A T 18: 75,142,406 (GRCm39) K71* probably null Het
Bmal2 A G 6: 146,707,940 (GRCm39) T21A probably benign Het
Brpf1 A T 6: 113,291,835 (GRCm39) M294L probably benign Het
Camk2g T G 14: 20,789,410 (GRCm39) D382A possibly damaging Het
Ccdc33 T A 9: 58,025,748 (GRCm39) R94W probably damaging Het
Cd244a T A 1: 171,404,823 (GRCm39) L225Q probably damaging Het
Chsy1 G T 7: 65,820,778 (GRCm39) V338F probably damaging Het
Col14a1 A G 15: 55,225,846 (GRCm39) I170V unknown Het
Col6a2 G T 10: 76,443,590 (GRCm39) Q492K probably benign Het
Dnah12 G T 14: 26,581,273 (GRCm39) V3168L probably benign Het
Dnah7a T C 1: 53,535,164 (GRCm39) S2699G possibly damaging Het
Fsip2 A G 2: 82,807,886 (GRCm39) K1402E possibly damaging Het
Ghdc C T 11: 100,660,493 (GRCm39) A127T probably benign Het
Glp1r T C 17: 31,149,572 (GRCm39) probably null Het
Gm19410 A T 8: 36,276,253 (GRCm39) M1637L probably benign Het
Grm5 T G 7: 87,779,459 (GRCm39) D998E probably benign Het
Krtcap3 A G 5: 31,409,904 (GRCm39) T157A probably damaging Het
Luc7l2 A G 6: 38,580,399 (GRCm39) R333G unknown Het
Mdc1 T G 17: 36,161,773 (GRCm39) S895R probably benign Het
Mef2a G A 7: 66,945,142 (GRCm39) T80M probably damaging Het
Mitd1 T A 1: 37,924,356 (GRCm39) I65F probably benign Het
Mms19 A G 19: 41,933,011 (GRCm39) L1026P probably damaging Het
Mtbp G T 15: 55,472,922 (GRCm39) V629L unknown Het
Ncapd3 T A 9: 26,966,801 (GRCm39) I545N possibly damaging Het
Nin G A 12: 70,089,542 (GRCm39) T1291M Het
Or10z1 T A 1: 174,077,784 (GRCm39) K236N probably damaging Het
Or5b123 A T 19: 13,597,197 (GRCm39) I181F probably damaging Het
Orc3 G T 4: 34,587,032 (GRCm39) C352* probably null Het
Oxct2b G A 4: 123,011,550 (GRCm39) G490D probably benign Het
Pcdhb16 A T 18: 37,612,458 (GRCm39) T473S probably benign Het
Pira1 T C 7: 3,742,281 (GRCm39) E82G probably damaging Het
Ppp2r3d A T 9: 101,088,911 (GRCm39) F471I probably benign Het
Prl3d1 T C 13: 27,284,018 (GRCm39) C196R possibly damaging Het
Prmt1 A T 7: 44,633,552 (GRCm39) F14L probably benign Het
Prox1 A G 1: 189,894,418 (GRCm39) L9P probably damaging Het
Ptpn13 T A 5: 103,688,849 (GRCm39) F881I probably benign Het
Rab3ip A G 10: 116,750,044 (GRCm39) I363T probably benign Het
Rapgef3 T C 15: 97,659,090 (GRCm39) E134G probably damaging Het
Rapgef6 C T 11: 54,585,279 (GRCm39) P1559L probably benign Het
Rnf180 T C 13: 105,304,096 (GRCm39) K507E probably damaging Het
Rpl3l T C 17: 24,949,960 (GRCm39) I53T probably benign Het
Rtl1 T C 12: 109,557,442 (GRCm39) I1466V unknown Het
Saxo2 A G 7: 82,284,559 (GRCm39) Y100H probably damaging Het
Selenoh G T 2: 84,500,724 (GRCm39) R39S probably damaging Het
Sgsm2 A G 11: 74,756,323 (GRCm39) V342A probably damaging Het
Slc26a9 T A 1: 131,690,982 (GRCm39) F587I possibly damaging Het
Smoc1 A T 12: 81,152,682 (GRCm39) Q91L possibly damaging Het
Spag9 A C 11: 93,887,389 (GRCm39) H98P possibly damaging Het
Spata31e3 T G 13: 50,401,122 (GRCm39) K401N probably benign Het
T2 T A 17: 8,637,047 (GRCm39) C337* probably null Het
Tbc1d19 A G 5: 54,054,377 (GRCm39) Y455C probably damaging Het
Thbd A G 2: 148,249,340 (GRCm39) L176P probably damaging Het
Tmem116 A G 5: 121,590,252 (GRCm39) probably null Het
Tmem25 C T 9: 44,709,640 (GRCm39) V54I possibly damaging Het
Trpm4 C T 7: 44,971,233 (GRCm39) V378I probably benign Het
Trrap G T 5: 144,779,422 (GRCm39) W3129C probably damaging Het
Ttn A T 2: 76,558,660 (GRCm39) D29740E probably damaging Het
Vcan C T 13: 89,833,233 (GRCm39) C3073Y probably damaging Het
Xrra1 T A 7: 99,560,189 (GRCm39) D388E probably benign Het
Other mutations in Phkg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01953:Phkg2 APN 7 127,181,512 (GRCm39) missense probably damaging 1.00
IGL02259:Phkg2 APN 7 127,181,458 (GRCm39) intron probably benign
IGL02699:Phkg2 APN 7 127,181,722 (GRCm39) missense probably benign
IGL03039:Phkg2 APN 7 127,178,866 (GRCm39) nonsense probably null
R0326:Phkg2 UTSW 7 127,173,075 (GRCm39) missense probably damaging 1.00
R2141:Phkg2 UTSW 7 127,181,386 (GRCm39) critical splice donor site probably null
R2142:Phkg2 UTSW 7 127,181,386 (GRCm39) critical splice donor site probably null
R2763:Phkg2 UTSW 7 127,179,005 (GRCm39) missense probably benign 0.00
R4614:Phkg2 UTSW 7 127,176,792 (GRCm39) missense probably damaging 1.00
R4615:Phkg2 UTSW 7 127,176,792 (GRCm39) missense probably damaging 1.00
R4616:Phkg2 UTSW 7 127,176,792 (GRCm39) missense probably damaging 1.00
R4666:Phkg2 UTSW 7 127,177,156 (GRCm39) missense possibly damaging 0.93
R4981:Phkg2 UTSW 7 127,181,551 (GRCm39) missense probably damaging 1.00
R4993:Phkg2 UTSW 7 127,173,113 (GRCm39) missense probably damaging 1.00
R5287:Phkg2 UTSW 7 127,181,929 (GRCm39) frame shift probably null
R5416:Phkg2 UTSW 7 127,182,107 (GRCm39) missense possibly damaging 0.46
R7276:Phkg2 UTSW 7 127,181,558 (GRCm39) missense possibly damaging 0.80
R7656:Phkg2 UTSW 7 127,182,074 (GRCm39) missense probably damaging 0.99
R8504:Phkg2 UTSW 7 127,181,528 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- AATACTGTCCCTTTCCCAGGTG -3'
(R):5'- AGGTCTGAGTCCCAAACAGTTG -3'

Sequencing Primer
(F):5'- TGGCAGTGTGGACAATACTG -3'
(R):5'- AGCCTCATCCTCTGTGAT -3'
Posted On 2019-11-12