Incidental Mutation 'R5416:Phkg2'
ID 427734
Institutional Source Beutler Lab
Gene Symbol Phkg2
Ensembl Gene ENSMUSG00000030815
Gene Name phosphorylase kinase, gamma 2 (testis)
Synonyms 1500017I02Rik
MMRRC Submission 042985-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R5416 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127172512-127182479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127182107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 376 (H376R)
Ref Sequence ENSEMBL: ENSMUSP00000113533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033086] [ENSMUST00000072155] [ENSMUST00000121004] [ENSMUST00000205633] [ENSMUST00000154891] [ENSMUST00000146383]
AlphaFold Q9DB30
Predicted Effect possibly damaging
Transcript: ENSMUST00000033086
AA Change: H376R

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815
AA Change: H376R

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 possibly damaging
Transcript: ENSMUST00000121004
AA Change: H376R

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815
AA Change: H376R

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: ENSMUST00000205633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151908
Predicted Effect probably benign
Transcript: ENSMUST00000206818
Predicted Effect probably benign
Transcript: ENSMUST00000205839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206891
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: ENSMUST00000146383
SMART Domains Protein: ENSMUSP00000115593
Gene: ENSMUSG00000030815

DomainStartEndE-ValueType
Pfam:Pkinase 24 85 8.6e-7 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,871,331 (GRCm39) E689D probably damaging Het
Acsl6 A G 11: 54,227,997 (GRCm39) E339G probably benign Het
Adcy3 G A 12: 4,259,308 (GRCm39) E861K probably damaging Het
Adrm1 C T 2: 179,817,930 (GRCm39) T394I probably benign Het
Adsl T A 15: 80,836,384 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,551 (GRCm39) C1854S probably damaging Het
C87436 A G 6: 86,442,832 (GRCm39) Y458C probably damaging Het
Cacna1e T C 1: 154,341,525 (GRCm39) D1161G probably damaging Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Ccr1 G T 9: 123,764,413 (GRCm39) P39H probably damaging Het
Cdh18 A G 15: 23,226,809 (GRCm39) Y90C probably damaging Het
Chadl T C 15: 81,578,100 (GRCm39) R510G probably benign Het
Clcnkb T C 4: 141,141,211 (GRCm39) T115A probably benign Het
Clptm1 C A 7: 19,367,741 (GRCm39) probably benign Het
Col24a1 A T 3: 145,020,786 (GRCm39) R386* probably null Het
Ctsj G T 13: 61,152,337 (GRCm39) L10M probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dhx40 T C 11: 86,688,517 (GRCm39) D302G probably benign Het
Edrf1 T C 7: 133,243,131 (GRCm39) F166L possibly damaging Het
Epha1 A T 6: 42,342,805 (GRCm39) M248K probably damaging Het
Evpl C A 11: 116,125,085 (GRCm39) V126L probably benign Het
Fam83d T C 2: 158,627,552 (GRCm39) C414R possibly damaging Het
Fat2 T C 11: 55,194,514 (GRCm39) N1175S possibly damaging Het
Fhad1 G A 4: 141,646,113 (GRCm39) T283I probably benign Het
Fuca1 A G 4: 135,650,291 (GRCm39) T121A probably damaging Het
Gm13941 A T 2: 110,925,079 (GRCm39) S175T unknown Het
Gpr107 T A 2: 31,075,560 (GRCm39) I357N probably damaging Het
Gpr161 T A 1: 165,149,030 (GRCm39) H466Q probably benign Het
Hsd3b5 A G 3: 98,526,466 (GRCm39) F327L probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Itgb7 A T 15: 102,125,744 (GRCm39) D628E probably benign Het
Nwd1 A G 8: 73,393,322 (GRCm39) D236G possibly damaging Het
Or56b2j C T 7: 104,352,923 (GRCm39) L50F probably benign Het
Or6d14 A T 6: 116,534,166 (GRCm39) Y260F probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb8 A G 18: 37,490,008 (GRCm39) Y562C probably damaging Het
Plxnc1 G A 10: 94,673,416 (GRCm39) T1018I probably damaging Het
Ppp6r1 A T 7: 4,642,747 (GRCm39) D532E possibly damaging Het
Prkdc T C 16: 15,623,814 (GRCm39) L3259P probably damaging Het
Prkg2 A T 5: 99,091,326 (GRCm39) D641E probably benign Het
Psg26 T C 7: 18,216,525 (GRCm39) T105A probably benign Het
Ptprs T C 17: 56,742,724 (GRCm39) T473A probably damaging Het
Pwp2 G T 10: 78,018,835 (GRCm39) N57K probably damaging Het
Rnf216 G T 5: 143,001,526 (GRCm39) C733* probably null Het
Serpina1f T A 12: 103,660,203 (GRCm39) K26N possibly damaging Het
Sez6l2 T A 7: 126,561,058 (GRCm39) C448S probably damaging Het
Slc28a3 A T 13: 58,724,607 (GRCm39) L216M probably damaging Het
Sorbs1 A G 19: 40,365,433 (GRCm39) S117P probably benign Het
Sorl1 A T 9: 41,913,932 (GRCm39) C1332* probably null Het
Specc1 T C 11: 62,009,735 (GRCm39) V497A probably benign Het
Tmem204 T C 17: 25,277,300 (GRCm39) E195G probably damaging Het
Tnfrsf13b T C 11: 61,037,849 (GRCm39) probably null Het
Ttll5 G A 12: 86,059,602 (GRCm39) V1250M possibly damaging Het
Ube4a G A 9: 44,852,476 (GRCm39) T681I probably damaging Het
Ubqln3 C T 7: 103,790,879 (GRCm39) V404I probably benign Het
Yeats2 T C 16: 20,030,319 (GRCm39) S919P probably benign Het
Zfp575 C T 7: 24,286,147 (GRCm39) G3D probably benign Het
Zfp644 C T 5: 106,766,294 (GRCm39) silent 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
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
Predicted Primers PCR Primer
(F):5'- GAGTGGCCTTAAGCAGTCAC -3'
(R):5'- TTTCTGTGACAAGCAGCATTCTC -3'

Sequencing Primer
(F):5'- GGCCTTAAGCAGTCACCGTTTAC -3'
(R):5'- CAAGCAGCATTCTCAGTTGTAGGC -3'
Posted On 2016-09-01