Incidental Mutation 'IGL02259:Phkg2'
ID 286683
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 # IGL02259
Quality Score
Status
Chromosome 7
Chromosomal Location 127172512-127182479 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 127181458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033086] [ENSMUST00000072155] [ENSMUST00000121004] [ENSMUST00000146383] [ENSMUST00000205633] [ENSMUST00000154891]
AlphaFold Q9DB30
Predicted Effect probably benign
Transcript: ENSMUST00000033086
SMART Domains Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815

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 benign
Transcript: ENSMUST00000121004
SMART Domains Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815

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 noncoding transcript
Transcript: ENSMUST00000149853
Predicted Effect probably benign
Transcript: ENSMUST00000205633
Predicted Effect probably benign
Transcript: ENSMUST00000154891
SMART Domains Protein: ENSMUSP00000116860
Gene: ENSMUSG00000030815

DomainStartEndE-ValueType
Pfam:Pkinase 24 78 4.5e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206220
Predicted Effect probably benign
Transcript: ENSMUST00000206818
Predicted Effect probably benign
Transcript: ENSMUST00000205839
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang6 A G 14: 44,239,363 (GRCm39) F122L probably benign Het
Atm A T 9: 53,429,794 (GRCm39) probably benign Het
Ccsap G A 8: 124,572,166 (GRCm39) T112M possibly damaging Het
Cd63 T C 10: 128,747,843 (GRCm39) S113P probably benign Het
Cntnap5c T C 17: 58,341,857 (GRCm39) F183L probably damaging Het
Cux1 T A 5: 136,355,687 (GRCm39) S321C probably damaging Het
Cyp2ab1 G A 16: 20,131,897 (GRCm39) T281I probably damaging Het
Cyp2c40 A C 19: 39,792,246 (GRCm39) C233G probably benign Het
Dnah8 T C 17: 30,978,588 (GRCm39) I2955T probably benign Het
Drc7 A G 8: 95,782,733 (GRCm39) T33A probably benign Het
Gigyf2 T A 1: 87,339,559 (GRCm39) Y481N probably damaging Het
Gsap A T 5: 21,391,398 (GRCm39) E13V probably benign Het
Ifna4 A G 4: 88,760,293 (GRCm39) K66E probably damaging Het
Kif14 T A 1: 136,427,840 (GRCm39) M1103K probably benign Het
Kif6 A T 17: 50,202,919 (GRCm39) probably benign Het
Lsm14a G T 7: 34,070,558 (GRCm39) P113T probably damaging Het
Med12l T A 3: 59,153,264 (GRCm39) N1096K probably damaging Het
Med13 C A 11: 86,248,327 (GRCm39) G9W possibly damaging Het
Minar1 A T 9: 89,484,412 (GRCm39) H328Q possibly damaging Het
Nbr1 G A 11: 101,468,816 (GRCm39) A639T probably damaging Het
Nid2 G T 14: 19,818,277 (GRCm39) probably null Het
Numa1 A G 7: 101,636,955 (GRCm39) D22G possibly damaging Het
Or13p10 G A 4: 118,523,634 (GRCm39) V307I probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Plcb4 T C 2: 135,752,166 (GRCm39) probably null Het
Plch1 C T 3: 63,630,170 (GRCm39) probably null Het
Prb1b A T 6: 132,289,637 (GRCm39) D62E unknown Het
Prl8a1 A C 13: 27,766,089 (GRCm39) V2G probably benign Het
Spata31 T C 13: 65,069,297 (GRCm39) S482P possibly damaging Het
Tbc1d4 A G 14: 101,703,166 (GRCm39) C760R probably damaging Het
Tgs1 A G 4: 3,604,743 (GRCm39) N722D probably damaging Het
Tmcc2 T C 1: 132,288,898 (GRCm39) D28G probably benign Het
Zfp457 C T 13: 67,444,471 (GRCm39) A11T possibly damaging Het
Zfp879 T C 11: 50,729,255 (GRCm39) S48G probably benign Het
Other mutations in Phkg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01953:Phkg2 APN 7 127,181,512 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16