Incidental Mutation 'IGL01953:Phkg2'
ID 181326
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 # IGL01953
Quality Score
Status
Chromosome 7
Chromosomal Location 127172512-127182479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127181512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 232 (P232S)
Ref Sequence ENSEMBL: ENSMUSP00000113533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033086] [ENSMUST00000072155] [ENSMUST00000121004] [ENSMUST00000146383] [ENSMUST00000205633] [ENSMUST00000154891]
AlphaFold Q9DB30
Predicted Effect probably damaging
Transcript: ENSMUST00000033086
AA Change: P232S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815
AA Change: P232S

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: P232S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815
AA Change: P232S

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 benign
Transcript: ENSMUST00000206818
Predicted Effect probably benign
Transcript: ENSMUST00000205633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206891
Predicted Effect probably benign
Transcript: ENSMUST00000205839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205850
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks3 G A 16: 4,778,408 (GRCm39) A8V probably damaging Het
Atp6v0a4 A G 6: 38,031,552 (GRCm39) S650P probably damaging Het
B3glct C A 5: 149,669,000 (GRCm39) D311E probably benign Het
Cc2d1a G A 8: 84,870,607 (GRCm39) P119S probably benign Het
Cdcp3 T C 7: 130,826,709 (GRCm39) M261T probably benign Het
Chdh T C 14: 29,757,304 (GRCm39) V409A probably benign Het
Cipc T A 12: 86,999,538 (GRCm39) V4E possibly damaging Het
Dock2 G T 11: 34,623,183 (GRCm39) T70K probably benign Het
Dpf1 T C 7: 29,013,732 (GRCm39) V269A probably damaging Het
Drc7 A T 8: 95,785,753 (GRCm39) Y203F probably damaging Het
Dsg3 C T 18: 20,658,361 (GRCm39) T324I probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Iqcd A T 5: 120,738,554 (GRCm39) N124I probably benign Het
Kdm7a T C 6: 39,123,836 (GRCm39) N776S probably benign Het
Lama5 C T 2: 179,832,497 (GRCm39) R1684H probably damaging Het
Lrp12 A T 15: 39,741,497 (GRCm39) V406D probably damaging Het
Lrrc74a T A 12: 86,788,494 (GRCm39) L158Q probably damaging Het
Mef2d C T 3: 88,063,813 (GRCm39) T80I probably damaging Het
Megf11 T C 9: 64,597,370 (GRCm39) C681R probably damaging Het
Mex3c A G 18: 73,723,104 (GRCm39) D399G probably damaging Het
Muc20 T C 16: 32,614,073 (GRCm39) T435A probably benign Het
Myo5b T C 18: 74,702,838 (GRCm39) Y10H possibly damaging Het
Or12d13 T C 17: 37,647,766 (GRCm39) D119G probably damaging Het
Or4k40 A G 2: 111,250,657 (GRCm39) L213P probably benign Het
Otoa T A 7: 120,759,548 (GRCm39) probably null Het
P4ha2 T C 11: 54,004,996 (GRCm39) F124S probably benign Het
Piezo1 T A 8: 123,217,923 (GRCm39) Q800L probably damaging Het
Pign C A 1: 105,516,764 (GRCm39) probably benign Het
Pik3r5 A G 11: 68,384,997 (GRCm39) D634G probably benign Het
Ptpn9 A G 9: 56,964,072 (GRCm39) T402A possibly damaging Het
Relb A C 7: 19,349,482 (GRCm39) probably null Het
Scgb1b30 A G 7: 33,799,302 (GRCm39) Q78R probably damaging Het
Sema6a C T 18: 47,423,187 (GRCm39) W273* probably null Het
Sestd1 A G 2: 77,042,813 (GRCm39) V247A possibly damaging Het
Specc1 T A 11: 62,009,122 (GRCm39) S293T probably benign Het
Sptbn2 A G 19: 4,799,721 (GRCm39) D2145G probably benign Het
Trim43b T A 9: 88,967,496 (GRCm39) D380V possibly damaging Het
Vmn1r236 A G 17: 21,507,473 (GRCm39) Y197C possibly damaging Het
Vmn1r79 A G 7: 11,910,382 (GRCm39) Y88C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r61 G A 7: 41,949,613 (GRCm39) V678M probably damaging Het
Wdfy3 A T 5: 102,042,894 (GRCm39) Y1937* probably null Het
Other mutations in Phkg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-05-07