Incidental Mutation 'R8686:Phkg1'
ID 662035
Institutional Source Beutler Lab
Gene Symbol Phkg1
Ensembl Gene ENSMUSG00000025537
Gene Name phosphorylase kinase gamma 1
Synonyms
MMRRC Submission 068541-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R8686 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 129892272-129907953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129895056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 207 (Y207N)
Ref Sequence ENSEMBL: ENSMUSP00000026617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026617] [ENSMUST00000137357] [ENSMUST00000140667] [ENSMUST00000154932] [ENSMUST00000171300]
AlphaFold P07934
Predicted Effect probably damaging
Transcript: ENSMUST00000026617
AA Change: Y207N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
AA Change: Y207N

DomainStartEndE-ValueType
S_TKc 20 288 3.79e-106 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137357
SMART Domains Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:FGE-sulfatase 25 136 6.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140667
SMART Domains Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 20 143 4.1e-9 PFAM
Pfam:Pkinase 20 144 3.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154932
SMART Domains Protein: ENSMUSP00000122040
Gene: ENSMUSG00000025537

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 95 3.6e-13 PFAM
Pfam:Pkinase 1 100 7.3e-32 PFAM
Pfam:Kdo 3 77 8.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171300
SMART Domains Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:FGE-sulfatase 34 299 3.9e-88 PFAM
Meta Mutation Damage Score 0.8718 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,521 (GRCm39) T596A probably benign Het
Adamts6 A G 13: 104,450,207 (GRCm39) I303V probably damaging Het
Alpl A T 4: 137,471,112 (GRCm39) H341Q probably damaging Het
Cachd1 G A 4: 100,845,325 (GRCm39) R939H probably damaging Het
Cd22 G A 7: 30,569,494 (GRCm39) R541C probably benign Het
Cenpf A T 1: 189,391,801 (GRCm39) M660K probably benign Het
Cmya5 A T 13: 93,231,888 (GRCm39) S1067T possibly damaging Het
Col5a2 C T 1: 45,461,147 (GRCm39) G250D probably damaging Het
Cylc2 C T 4: 51,229,651 (GRCm39) T331M unknown Het
Dgka A G 10: 128,568,962 (GRCm39) M201T probably benign Het
Dnajc13 T C 9: 104,048,004 (GRCm39) I1804V probably benign Het
Dym T A 18: 75,419,754 (GRCm39) Y642N probably damaging Het
Efr3b A T 12: 4,050,886 (GRCm39) D26E probably damaging Het
Emilin1 A T 5: 31,075,040 (GRCm39) K427M possibly damaging Het
Fam187b T C 7: 30,676,659 (GRCm39) L56S probably benign Het
Fbh1 C T 2: 11,760,469 (GRCm39) V694I probably benign Het
Fgd2 C T 17: 29,597,997 (GRCm39) T644I probably benign Het
G6pc1 T G 11: 101,265,533 (GRCm39) probably null Het
Gli2 A G 1: 118,764,417 (GRCm39) S1245P probably benign Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Ighv1-84 T C 12: 115,944,524 (GRCm39) D50G probably benign Het
Impdh1 C A 6: 29,216,214 (GRCm39) probably benign Het
Inhca C T 9: 103,136,627 (GRCm39) A525T probably benign Het
Irf4 A T 13: 30,945,433 (GRCm39) D393V possibly damaging Het
Kalrn A G 16: 34,181,305 (GRCm39) L111P probably damaging Het
Lrch3 T C 16: 32,802,223 (GRCm39) V58A possibly damaging Het
Lrif1 C T 3: 106,640,097 (GRCm39) T394I probably damaging Het
Map4k1 A G 7: 28,693,498 (GRCm39) T434A probably benign Het
Mcur1 G A 13: 43,695,193 (GRCm39) T327M probably damaging Het
Myo9b G T 8: 71,786,966 (GRCm39) S716I probably benign Het
Nol10 T A 12: 17,419,772 (GRCm39) probably benign Het
Nos3 A G 5: 24,573,841 (GRCm39) T202A possibly damaging Het
Odad1 A G 7: 45,597,116 (GRCm39) T456A probably benign Het
Or14j7 T C 17: 38,235,168 (GRCm39) V237A probably benign Het
Or2d4 A C 7: 106,543,905 (GRCm39) M101R probably benign Het
Parp12 A T 6: 39,094,856 (GRCm39) S80T probably benign Het
Pde1a C T 2: 79,758,086 (GRCm39) V50I probably benign Het
Pfkl A T 10: 77,833,356 (GRCm39) probably null Het
Pik3r4 A G 9: 105,535,728 (GRCm39) T640A possibly damaging Het
Pip5k1c C A 10: 81,147,827 (GRCm39) H411N probably damaging Het
Pla2g4e A G 2: 120,075,172 (GRCm39) S73P probably damaging Het
Polr2b T C 5: 77,483,510 (GRCm39) V662A probably damaging Het
Prss43 C T 9: 110,658,494 (GRCm39) R265C possibly damaging Het
Rap1b A T 10: 117,658,746 (GRCm39) V29D probably damaging Het
Rraga A G 4: 86,495,048 (GRCm39) E298G probably damaging Het
Rrp8 A T 7: 105,382,781 (GRCm39) I418N probably damaging Het
Siglecf T C 7: 43,005,030 (GRCm39) V420A probably benign Het
Snx14 T A 9: 88,297,746 (GRCm39) N174I probably damaging Het
Speer4e1 T C 5: 14,984,129 (GRCm39) N229S probably benign Het
Spopfm2 T C 3: 94,083,427 (GRCm39) D128G probably benign Het
Teddm3 A G 16: 20,971,685 (GRCm39) *295Q probably null Het
Tfap2c A G 2: 172,393,926 (GRCm39) D245G possibly damaging Het
Tfap2d A G 1: 19,178,508 (GRCm39) N191S probably benign Het
Tmt1b A T 10: 128,796,476 (GRCm39) M111K possibly damaging Het
Unc80 A G 1: 66,651,427 (GRCm39) R1591G possibly damaging Het
Vmn1r116 T C 7: 20,606,616 (GRCm39) W146R probably damaging Het
Vps13b C G 15: 35,925,535 (GRCm39) S3823R probably damaging Het
Wiz T A 17: 32,586,821 (GRCm39) D163V probably damaging Het
Xylt1 G C 7: 116,980,594 (GRCm39) A61P unknown Het
Zfp521 A C 18: 13,978,701 (GRCm39) F571V probably damaging Het
Zfp664 T A 5: 124,963,133 (GRCm39) C176S possibly damaging Het
Zfyve26 T C 12: 79,334,227 (GRCm39) N264D probably benign Het
Other mutations in Phkg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Phkg1 APN 5 129,893,914 (GRCm39) nonsense probably null
IGL01116:Phkg1 APN 5 129,893,813 (GRCm39) splice site probably null
IGL01713:Phkg1 APN 5 129,895,714 (GRCm39) missense probably benign 0.01
IGL02246:Phkg1 APN 5 129,893,479 (GRCm39) missense probably damaging 0.97
IGL02803:Phkg1 APN 5 129,894,895 (GRCm39) missense possibly damaging 0.95
IGL02954:Phkg1 APN 5 129,894,910 (GRCm39) missense probably damaging 1.00
PIT4403001:Phkg1 UTSW 5 129,894,772 (GRCm39) missense probably benign 0.02
R0041:Phkg1 UTSW 5 129,903,103 (GRCm39) missense probably benign
R0140:Phkg1 UTSW 5 129,893,449 (GRCm39) missense probably benign 0.01
R0321:Phkg1 UTSW 5 129,898,365 (GRCm39) start codon destroyed probably null 1.00
R0646:Phkg1 UTSW 5 129,893,394 (GRCm39) splice site probably null
R1142:Phkg1 UTSW 5 129,902,073 (GRCm39) missense possibly damaging 0.92
R1446:Phkg1 UTSW 5 129,902,055 (GRCm39) critical splice donor site probably null
R2350:Phkg1 UTSW 5 129,893,373 (GRCm39) missense probably damaging 1.00
R2896:Phkg1 UTSW 5 129,893,471 (GRCm39) missense possibly damaging 0.46
R4773:Phkg1 UTSW 5 129,902,114 (GRCm39) splice site probably null
R7236:Phkg1 UTSW 5 129,895,802 (GRCm39) missense probably damaging 1.00
R7499:Phkg1 UTSW 5 129,902,109 (GRCm39) nonsense probably null
R7658:Phkg1 UTSW 5 129,894,764 (GRCm39) missense probably damaging 1.00
R7719:Phkg1 UTSW 5 129,902,699 (GRCm39) start gained probably benign
R8827:Phkg1 UTSW 5 129,893,894 (GRCm39) missense probably benign
R9090:Phkg1 UTSW 5 129,893,863 (GRCm39) missense probably benign 0.04
R9271:Phkg1 UTSW 5 129,893,863 (GRCm39) missense probably benign 0.04
R9627:Phkg1 UTSW 5 129,893,376 (GRCm39) nonsense probably null
R9781:Phkg1 UTSW 5 129,895,807 (GRCm39) missense probably damaging 1.00
Z1177:Phkg1 UTSW 5 129,895,096 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TTGCTTCCGGTGCCAGAAAG -3'
(R):5'- TGAGTGTAAAATAGGAGAGCCCTC -3'

Sequencing Primer
(F):5'- CCAGCCAGCAGAGTGTACATG -3'
(R):5'- GAGAGCCCTCCCAAGCACTG -3'
Posted On 2021-03-08