Incidental Mutation 'IGL03039:Phkg2'
ID 408824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phkg2
Ensembl Gene ENSMUSG00000030815
Gene Name phosphorylase kinase, gamma 2 (testis)
Synonyms 1500017I02Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # IGL03039
Quality Score
Status
Chromosome 7
Chromosomal Location 127172512-127182479 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 127178866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 27 (Y27*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033086] [ENSMUST00000072155] [ENSMUST00000121004] [ENSMUST00000146383] [ENSMUST00000205633] [ENSMUST00000154891]
AlphaFold Q9DB30
Predicted Effect probably null
Transcript: ENSMUST00000033086
AA Change: Y118*
SMART Domains Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815
AA Change: Y118*

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 null
Transcript: ENSMUST00000121004
AA Change: Y118*
SMART Domains Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815
AA Change: Y118*

DomainStartEndE-ValueType
S_TKc 24 291 6.4e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138158
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 null
Transcript: ENSMUST00000206818
AA Change: Y27*
Predicted Effect probably benign
Transcript: ENSMUST00000205633
Predicted Effect probably benign
Transcript: ENSMUST00000205839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149853
Predicted Effect probably benign
Transcript: ENSMUST00000154891
SMART Domains Protein: ENSMUSP00000116860
Gene: ENSMUSG00000030815

DomainStartEndE-ValueType
Pfam:Pkinase 24 78 4.5e-6 PFAM
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T C 12: 113,454,502 (GRCm39) C440R probably damaging Het
Agbl2 A G 2: 90,631,566 (GRCm39) D308G possibly damaging Het
Cfh G T 1: 140,063,999 (GRCm39) Q408K possibly damaging Het
Chrna7 A G 7: 62,798,340 (GRCm39) L114P probably damaging Het
Defa35 G A 8: 21,555,839 (GRCm39) C66Y probably damaging Het
Dnah12 C A 14: 26,445,667 (GRCm39) Q743K probably benign Het
Elapor2 A G 5: 9,468,055 (GRCm39) E241G probably benign Het
Esco2 T C 14: 66,068,867 (GRCm39) K148E probably damaging Het
Gm17079 T A 14: 51,930,518 (GRCm39) E109V probably damaging Het
Herc2 T A 7: 55,818,769 (GRCm39) probably benign Het
Igkv1-88 T C 6: 68,839,276 (GRCm39) Y112C possibly damaging Het
Igkv4-50 T C 6: 69,678,042 (GRCm39) R21G probably benign Het
Kbtbd11 A G 8: 15,077,467 (GRCm39) D22G probably benign Het
Kcnb2 A G 1: 15,781,435 (GRCm39) D769G probably benign Het
Kdm2b C A 5: 123,019,734 (GRCm39) W817L probably benign Het
Myo18b A G 5: 112,988,637 (GRCm39) V983A probably damaging Het
Nr1d2 A T 14: 18,215,184 (GRCm38) M276K probably benign Het
Or10ag59 T A 2: 87,405,536 (GRCm39) M36K probably benign Het
Or2ak7 T A 11: 58,574,837 (GRCm39) V46D probably damaging Het
Phf20 T C 2: 156,140,461 (GRCm39) Y712H probably damaging Het
Pomt2 C A 12: 87,157,140 (GRCm39) L726F probably benign Het
Setd3 T C 12: 108,129,229 (GRCm39) probably null Het
Skint4 T C 4: 111,981,847 (GRCm39) V272A probably benign Het
Slc41a2 A G 10: 83,119,722 (GRCm39) Y347H probably benign Het
Slc45a2 T C 15: 11,012,773 (GRCm39) S259P probably benign Het
Tgfbr3 A C 5: 107,325,665 (GRCm39) probably benign Het
Tgfbrap1 A T 1: 43,115,088 (GRCm39) I4N possibly damaging Het
Trh C A 6: 92,220,709 (GRCm39) R51L probably damaging Het
Vars2 A T 17: 35,975,013 (GRCm39) V312E probably damaging Het
Wdfy2 T C 14: 63,186,169 (GRCm39) V268A 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
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
R7655:Phkg2 UTSW 7 127,182,074 (GRCm39) missense probably damaging 0.99
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
Posted On 2016-08-02