Incidental Mutation 'R5738:Phka2'
ID 444653
Institutional Source Beutler Lab
Gene Symbol Phka2
Ensembl Gene ENSMUSG00000031295
Gene Name phosphorylase kinase alpha 2
Synonyms k, 6330505C01Rik, Phk
MMRRC Submission 043350-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5738 (G1)
Quality Score 214
Status Validated
Chromosome X
Chromosomal Location 159285162-159381874 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) ACC to AC at 159342862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033652] [ENSMUST00000112376] [ENSMUST00000112377] [ENSMUST00000112380]
AlphaFold Q8BWJ3
Predicted Effect probably null
Transcript: ENSMUST00000033652
SMART Domains Protein: ENSMUSP00000033652
Gene: ENSMUSG00000031295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 919 9.2e-200 PFAM
low complexity region 1039 1055 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112376
SMART Domains Protein: ENSMUSP00000107995
Gene: ENSMUSG00000031295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 521 1.5e-158 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112377
SMART Domains Protein: ENSMUSP00000107996
Gene: ENSMUSG00000031295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 919 9.2e-200 PFAM
low complexity region 1039 1055 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112380
SMART Domains Protein: ENSMUSP00000107999
Gene: ENSMUSG00000031295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 919 4.5e-197 PFAM
low complexity region 1039 1055 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153907
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (52/53)
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, and the hepatic isoform is encoded by this gene. 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, which are encoded by two different genes. 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,571,917 (GRCm39) D4826V probably damaging Het
Acoxl G A 2: 127,719,686 (GRCm39) C149Y probably benign Het
Adamts3 G T 5: 89,856,527 (GRCm39) H349N probably damaging Het
Ap2b1 A G 11: 83,227,256 (GRCm39) probably null Het
Ap3m2 T C 8: 23,293,877 (GRCm39) S58G possibly damaging Het
Bhmt2 A T 13: 93,799,798 (GRCm39) W213R probably benign Het
Cacna1h T G 17: 25,606,023 (GRCm39) D1092A probably damaging Het
Cbfb A C 8: 105,929,193 (GRCm39) Q170P probably damaging Het
Ccdc73 A C 2: 104,761,331 (GRCm39) K110N possibly damaging Het
Cep350 C A 1: 155,741,824 (GRCm39) R2149L probably damaging Het
Cog2 A G 8: 125,272,777 (GRCm39) T525A probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fbxl5 A G 5: 43,920,170 (GRCm39) I251T probably benign Het
Fscn3 A G 6: 28,430,030 (GRCm39) K67E possibly damaging Het
Glmp T A 3: 88,233,445 (GRCm39) N133K probably benign Het
Gpr179 T C 11: 97,242,232 (GRCm39) N204S probably damaging Het
Gtf2ird1 C T 5: 134,412,672 (GRCm39) R613Q probably damaging Het
Hepacam A G 9: 37,294,721 (GRCm39) D285G possibly damaging Het
Hipk4 G A 7: 27,227,841 (GRCm39) V196M probably damaging Het
Hlx A T 1: 184,463,754 (GRCm39) probably null Het
Igf2r A T 17: 12,936,254 (GRCm39) D597E probably benign Het
Ighm T C 12: 113,385,115 (GRCm39) T282A unknown Het
Igsf9b T C 9: 27,239,826 (GRCm39) C624R probably damaging Het
Ksr2 T C 5: 117,886,864 (GRCm39) V800A probably damaging Het
Lyn A T 4: 3,782,987 (GRCm39) I386F probably damaging Het
Melk A G 4: 44,310,333 (GRCm39) D102G probably damaging Het
Mettl1 G T 10: 126,877,863 (GRCm39) E4* probably null Het
Mybl2 C T 2: 162,910,203 (GRCm39) Q210* probably null Het
Naga C T 15: 82,219,054 (GRCm39) W231* probably null Het
Or2y3 T C 17: 38,393,347 (GRCm39) Y174C probably damaging Het
Or4k2 C T 14: 50,424,105 (GRCm39) V190I probably benign Het
Or7g16 T C 9: 18,727,125 (GRCm39) N155S possibly damaging Het
Otud4 T C 8: 80,400,090 (GRCm39) S935P probably benign Het
P2rx7 C T 5: 122,790,852 (GRCm39) T63I probably damaging Het
Pga5 A T 19: 10,647,024 (GRCm39) N260K probably benign Het
Plch1 T A 3: 63,681,076 (GRCm39) R184W probably damaging Het
Ppm1b T C 17: 85,301,374 (GRCm39) F85L probably benign Het
Prtg T A 9: 72,819,288 (GRCm39) F1094I probably benign Het
Ralgds G A 2: 28,432,538 (GRCm39) probably benign Het
Rgs17 A C 10: 5,783,140 (GRCm39) V149G probably damaging Het
Rnf168 A G 16: 32,101,192 (GRCm39) E124G probably damaging Het
Sav1 T C 12: 70,022,817 (GRCm39) E245G possibly damaging Het
Slc25a19 T C 11: 115,515,060 (GRCm39) I33V probably benign Het
Sptbn1 T C 11: 30,095,941 (GRCm39) I318V probably damaging Het
Tas2r136 A G 6: 132,754,707 (GRCm39) L140P probably damaging Het
Tbc1d9 A G 8: 83,997,655 (GRCm39) I1071V probably benign Het
Tecta G T 9: 42,284,474 (GRCm39) N870K possibly damaging Het
Tmem230 G A 2: 132,086,048 (GRCm39) P38L possibly damaging Het
Trpa1 G T 1: 14,946,174 (GRCm39) H986N probably damaging Het
Wdr41 A T 13: 95,114,996 (GRCm39) I24L possibly damaging Het
Other mutations in Phka2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Phka2 APN X 159,347,209 (GRCm39) missense possibly damaging 0.68
IGL02179:Phka2 APN X 159,337,376 (GRCm39) critical splice donor site probably null
IGL03034:Phka2 APN X 159,360,546 (GRCm39) nonsense probably null
R1996:Phka2 UTSW X 159,324,411 (GRCm39) missense probably benign 0.27
R2054:Phka2 UTSW X 159,337,323 (GRCm39) missense probably damaging 1.00
R2237:Phka2 UTSW X 159,324,408 (GRCm39) missense probably damaging 1.00
R2238:Phka2 UTSW X 159,324,408 (GRCm39) missense probably damaging 1.00
R2239:Phka2 UTSW X 159,324,408 (GRCm39) missense probably damaging 1.00
R3622:Phka2 UTSW X 159,327,291 (GRCm39) nonsense probably null
R3623:Phka2 UTSW X 159,327,291 (GRCm39) nonsense probably null
R3701:Phka2 UTSW X 159,316,045 (GRCm39) missense possibly damaging 0.95
R5735:Phka2 UTSW X 159,342,862 (GRCm39) frame shift probably null
R5736:Phka2 UTSW X 159,342,862 (GRCm39) frame shift probably null
R5737:Phka2 UTSW X 159,342,862 (GRCm39) frame shift probably null
R6812:Phka2 UTSW X 159,316,044 (GRCm39) missense probably damaging 0.99
R6813:Phka2 UTSW X 159,316,044 (GRCm39) missense probably damaging 0.99
R6957:Phka2 UTSW X 159,316,044 (GRCm39) missense probably damaging 0.99
R6960:Phka2 UTSW X 159,316,044 (GRCm39) missense probably damaging 0.99
X0066:Phka2 UTSW X 159,332,268 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTAGTGGAGCCCTGGATGAC -3'
(R):5'- CTGGGAGTACAATGCACTAAAACG -3'

Sequencing Primer
(F):5'- CTGGATGACAGGTGTTAGGTG -3'
(R):5'- GTACAATGCACTAAAACGTTCTTACC -3'
Posted On 2016-11-21