Incidental Mutation 'R2237:Phka2'
ID 240510
Institutional Source Beutler Lab
Gene Symbol Phka2
Ensembl Gene ENSMUSG00000031295
Gene Name phosphorylase kinase alpha 2
Synonyms k, 6330505C01Rik, Phk
MMRRC Submission 040237-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R2237 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 159285162-159381874 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 159324408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 254 (E254G)
Ref Sequence ENSEMBL: ENSMUSP00000107999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033652] [ENSMUST00000112376] [ENSMUST00000112377] [ENSMUST00000112380]
AlphaFold Q8BWJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000033652
AA Change: E254G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033652
Gene: ENSMUSG00000031295
AA Change: E254G

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 919 9.2e-200 PFAM
low complexity region 1039 1055 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112376
AA Change: E254G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107995
Gene: ENSMUSG00000031295
AA Change: E254G

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 521 1.5e-158 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112377
AA Change: E254G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107996
Gene: ENSMUSG00000031295
AA Change: E254G

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 919 9.2e-200 PFAM
low complexity region 1039 1055 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112380
AA Change: E254G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107999
Gene: ENSMUSG00000031295
AA Change: E254G

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: ENSMUST00000131765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154142
Meta Mutation Damage Score 0.8477 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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, 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Alox8 A C 11: 69,076,597 (GRCm39) S572A probably benign Het
Aoah G A 13: 20,978,481 (GRCm39) probably benign Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Arhgef37 T A 18: 61,637,477 (GRCm39) Y395F probably damaging Het
Bard1 G A 1: 71,114,135 (GRCm39) P282L probably damaging Het
Brd7 T A 8: 89,073,541 (GRCm39) E283V probably benign Het
Btbd9 T C 17: 30,553,302 (GRCm39) I387V probably benign Het
Cacna1a T C 8: 85,360,394 (GRCm39) probably null Het
Cacna1c T C 6: 118,629,704 (GRCm39) Q1205R possibly damaging Het
Camsap2 A T 1: 136,273,069 (GRCm39) L36Q probably damaging Het
Ccnj T C 19: 40,834,219 (GRCm39) F261L probably benign Het
Cd200r4 T A 16: 44,641,260 (GRCm39) M1K probably null Het
Cdca7l A G 12: 117,837,761 (GRCm39) E237G probably damaging Het
Cep128 T C 12: 91,314,341 (GRCm39) T146A probably benign Het
Clhc1 T G 11: 29,519,329 (GRCm39) S379A probably benign Het
Dbf4 T A 5: 8,458,542 (GRCm39) I158L possibly damaging Het
Deup1 A C 9: 15,486,597 (GRCm39) I455S probably damaging Het
Dlec1 T C 9: 118,967,259 (GRCm39) probably null Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Espl1 G A 15: 102,224,004 (GRCm39) R1185H probably damaging Het
Evc2 T C 5: 37,535,527 (GRCm39) S401P probably benign Het
Fbxw15 A G 9: 109,384,303 (GRCm39) S403P probably damaging Het
Hsd17b1 G A 11: 100,970,652 (GRCm39) V236M probably damaging Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Itpripl2 T C 7: 118,089,294 (GRCm39) T422A probably benign Het
Izumo4 T C 10: 80,538,664 (GRCm39) S39P probably damaging Het
Kcnh5 T A 12: 75,054,493 (GRCm39) M484L probably benign Het
Kctd8 T A 5: 69,267,752 (GRCm39) I453F probably damaging Het
Kif5c A G 2: 49,584,020 (GRCm39) T152A probably benign Het
Kntc1 T C 5: 123,941,733 (GRCm39) V1809A possibly damaging Het
L3mbtl2 A T 15: 81,568,531 (GRCm39) T512S probably benign Het
Ltbp1 C A 17: 75,617,158 (GRCm39) D1032E probably benign Het
Mindy4 T C 6: 55,278,055 (GRCm39) F633S probably damaging Het
Muc5b T G 7: 141,415,826 (GRCm39) I2924S probably benign Het
Nfe2l2 G A 2: 75,506,898 (GRCm39) P401S probably benign Het
Nid1 T C 13: 13,675,070 (GRCm39) V930A probably benign Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Nt5m A G 11: 59,743,696 (GRCm39) K108R probably benign Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Or13p3 A G 4: 118,567,192 (GRCm39) D196G probably damaging Het
Osbpl9 T A 4: 109,013,854 (GRCm39) Q80L probably damaging Het
Osm A G 11: 4,188,505 (GRCm39) N44S possibly damaging Het
Pclo C T 5: 14,763,952 (GRCm39) P4142S unknown Het
Pdlim2 T G 14: 70,408,698 (GRCm39) T173P probably benign Het
Pex1 T C 5: 3,668,915 (GRCm39) probably null Het
Pik3cb A G 9: 98,923,081 (GRCm39) Y984H probably damaging Het
Plscr2 T C 9: 92,172,877 (GRCm39) C179R probably damaging Het
Rbpms2 C A 9: 65,558,893 (GRCm39) Y183* probably null Het
Ryr2 T A 13: 11,677,146 (GRCm39) E3235V probably benign Het
Sesn3 T C 9: 14,219,761 (GRCm39) V50A probably benign Het
Siglecf T C 7: 43,004,409 (GRCm39) V246A probably benign Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spata31e2 A T 1: 26,724,241 (GRCm39) M313K possibly damaging Het
Spata4 A C 8: 55,055,664 (GRCm39) K185T probably benign Het
Spin2c A G X: 152,616,672 (GRCm39) I162V probably damaging Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tas1r3 A T 4: 155,946,675 (GRCm39) M310K possibly damaging Het
Tenm3 G A 8: 48,795,372 (GRCm39) P585L probably damaging Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Ttll2 G A 17: 7,619,522 (GRCm39) T135I probably benign Het
Ubr4 A G 4: 139,170,101 (GRCm39) S1584G probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r80 G A 10: 79,004,104 (GRCm39) E106K probably damaging Het
Xpc T C 6: 91,475,090 (GRCm39) H643R probably damaging Het
Zan G A 5: 137,456,099 (GRCm39) Q1354* probably null Het
Zpld2 A C 4: 133,929,516 (GRCm39) M263R unknown 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
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
R5738: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'- TGGCCAGCAGATGTCATGTTG -3'
(R):5'- ACTCTCTTTGGAAACACTCTGTG -3'

Sequencing Primer
(F):5'- CCAGCAGATGTCATGTTGTTAAGACC -3'
(R):5'- GGAAACACTCTGTGAGTCATTC -3'
Posted On 2014-10-15