Incidental Mutation 'R4614:Phkg2'
ID 344947
Institutional Source Beutler Lab
Gene Symbol Phkg2
Ensembl Gene ENSMUSG00000030815
Gene Name phosphorylase kinase, gamma 2 (testis)
Synonyms 1500017I02Rik
MMRRC Submission 041825-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # R4614 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127172512-127182479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127176792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 61 (R61W)
Ref Sequence ENSEMBL: ENSMUSP00000145927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033086] [ENSMUST00000072155] [ENSMUST00000121004] [ENSMUST00000146383] [ENSMUST00000154891] [ENSMUST00000205633]
AlphaFold Q9DB30
Predicted Effect probably damaging
Transcript: ENSMUST00000033086
AA Change: R61W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815
AA Change: R61W

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: R61W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815
AA Change: R61W

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 damaging
Transcript: ENSMUST00000146383
AA Change: R61W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115593
Gene: ENSMUSG00000030815
AA Change: R61W

DomainStartEndE-ValueType
Pfam:Pkinase 24 85 8.6e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000154891
AA Change: R61W
SMART Domains Protein: ENSMUSP00000116860
Gene: ENSMUSG00000030815
AA Change: R61W

DomainStartEndE-ValueType
Pfam:Pkinase 24 78 4.5e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205633
AA Change: R61W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190938
Predicted Effect probably benign
Transcript: ENSMUST00000206818
Meta Mutation Damage Score 0.2820 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (95/97)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,402,375 (GRCm39) probably null Het
4932414N04Rik C A 2: 68,575,804 (GRCm39) T701K probably benign Het
Abcb11 A T 2: 69,115,025 (GRCm39) H640Q possibly damaging Het
Ago2 C T 15: 73,002,816 (GRCm39) V139M probably damaging Het
Apol11a A T 15: 77,400,772 (GRCm39) K86N probably benign Het
Ass1 T C 2: 31,404,795 (GRCm39) Y359H probably damaging Het
Bpifa3 A T 2: 153,978,200 (GRCm39) N34I probably damaging Het
Brwd1 A T 16: 95,848,559 (GRCm39) L540H probably damaging Het
C3ar1 G A 6: 122,827,680 (GRCm39) S179F probably benign Het
Ccnb1ip1 T C 14: 51,029,652 (GRCm39) T137A probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cdk12 T A 11: 98,140,603 (GRCm39) probably benign Het
Cep290 T C 10: 100,344,602 (GRCm39) M480T probably benign Het
Cep290 G A 10: 100,395,549 (GRCm39) R2112K possibly damaging Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cpeb1 A T 7: 81,086,018 (GRCm39) D41E possibly damaging Het
Csf2rb2 C G 15: 78,175,902 (GRCm39) C184S probably damaging Het
Ctsc G A 7: 87,927,583 (GRCm39) probably null Het
Cyp2c40 G A 19: 39,792,300 (GRCm39) S191L probably damaging Het
Dagla T C 19: 10,225,641 (GRCm39) E841G probably damaging Het
Dld A T 12: 31,383,944 (GRCm39) Y386* probably null Het
Dpp8 G A 9: 64,973,678 (GRCm39) S634N probably benign Het
Duox2 A T 2: 122,120,038 (GRCm39) V824E probably damaging Het
Dync2h1 A C 9: 7,011,290 (GRCm39) S3634R probably benign Het
Eef1d T C 15: 75,775,425 (GRCm39) N78S probably benign Het
Fcrl5 T A 3: 87,355,733 (GRCm39) I482N probably damaging Het
Fezf1 A T 6: 23,247,857 (GRCm39) C73S possibly damaging Het
Fgfr1 A G 8: 26,047,813 (GRCm39) D53G probably benign Het
Fmn1 T C 2: 113,195,494 (GRCm39) L398S unknown Het
Gm17175 T C 14: 51,809,042 (GRCm39) Q108R probably benign Het
Gm28042 G A 2: 119,871,639 (GRCm39) G669D probably damaging Het
Gm6185 A G 1: 161,050,669 (GRCm39) noncoding transcript Het
Gucy2g A T 19: 55,190,579 (GRCm39) C1018* probably null Het
H2-Q10 A T 17: 35,784,917 (GRCm39) probably benign Het
H2-T22 T G 17: 36,351,429 (GRCm39) Q267P probably benign Het
Hibadh A G 6: 52,523,915 (GRCm39) Y328H possibly damaging Het
Hsd3b3 T A 3: 98,649,396 (GRCm39) Y309F probably benign Het
Ighv1-37 C T 12: 114,859,863 (GRCm39) A116T probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Iqch A G 9: 63,389,863 (GRCm39) M733T probably benign Het
Jakmip2 T A 18: 43,695,657 (GRCm39) D539V probably damaging Het
Lgi2 A G 5: 52,695,775 (GRCm39) S395P probably damaging Het
Lrrc40 A T 3: 157,760,271 (GRCm39) N344I probably damaging Het
Ltbp1 G A 17: 75,596,989 (GRCm39) probably benign Het
Metap1d C T 2: 71,355,292 (GRCm39) P332L probably benign Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mis18bp1 T A 12: 65,200,303 (GRCm39) probably benign Het
Mta2 T C 19: 8,925,492 (GRCm39) probably null Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Muc4 A G 16: 32,577,432 (GRCm39) K241E probably benign Het
Mup18 T A 4: 61,590,154 (GRCm39) I125F possibly damaging Het
Nfs1 A G 2: 155,985,970 (GRCm39) S31P probably benign Het
Or10g6 T A 9: 39,934,255 (GRCm39) C189S probably damaging Het
Or10z1 A G 1: 174,078,188 (GRCm39) F102L possibly damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Otogl A T 10: 107,727,985 (GRCm39) C245* probably null Het
Pcdhb16 G A 18: 37,613,398 (GRCm39) G786D probably benign Het
Pdcd5 C T 7: 35,346,472 (GRCm39) probably benign Het
Piezo1 A T 8: 123,213,150 (GRCm39) I1871N probably benign Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Plxnd1 T C 6: 115,949,486 (GRCm39) T767A possibly damaging Het
Polr3c T G 3: 96,623,787 (GRCm39) I322L probably benign Het
Ppp1r26 C A 2: 28,340,860 (GRCm39) H163Q probably benign Het
Prox1 T G 1: 189,894,205 (GRCm39) Y80S probably damaging Het
Pygl T C 12: 70,257,753 (GRCm39) probably null Het
Rab23 T C 1: 33,778,466 (GRCm39) V236A probably benign Het
Setd2 T C 9: 110,398,881 (GRCm39) probably null Het
Slc5a7 A G 17: 54,583,587 (GRCm39) S568P probably benign Het
Smpd3 A G 8: 106,986,371 (GRCm39) L477P probably damaging Het
Spg21 A G 9: 65,387,671 (GRCm39) probably null Het
Spta1 A T 1: 174,020,543 (GRCm39) I551F probably damaging Het
Supt5 A T 7: 28,025,397 (GRCm39) I135N possibly damaging Het
Tacstd2 A G 6: 67,512,170 (GRCm39) F174S probably damaging Het
Tas1r2 A T 4: 139,387,098 (GRCm39) T186S probably damaging Het
Tie1 A G 4: 118,336,248 (GRCm39) Y673H probably damaging Het
Tom1l1 A T 11: 90,561,952 (GRCm39) N190K probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Tox4 C T 14: 52,524,924 (GRCm39) T249I probably damaging Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Vmn1r49 A G 6: 90,049,534 (GRCm39) V156A probably benign Het
Vmn2r13 A T 5: 109,323,065 (GRCm39) F75I probably benign Het
Washc2 T A 6: 116,215,135 (GRCm39) S502T possibly damaging Het
Wnk4 A T 11: 101,164,937 (GRCm39) E755D probably benign Het
Zfp207 T A 11: 80,286,016 (GRCm39) probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AAGCTCGATGTGGTGGTGC -3'
(R):5'- AGGCAATTCTAGGGTGTGGG -3'

Sequencing Primer
(F):5'- CACCCAGTCTTACAGGATGTGATG -3'
(R):5'- GTGGGTCATGAATAGGGCC -3'
Posted On 2015-09-25