Incidental Mutation 'R3889:Prkca'
ID 310201
Institutional Source Beutler Lab
Gene Symbol Prkca
Ensembl Gene ENSMUSG00000050965
Gene Name protein kinase C, alpha
Synonyms Pkca
MMRRC Submission 040801-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.744) question?
Stock # R3889 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 107824213-108234754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107870066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 450 (G450R)
Ref Sequence ENSEMBL: ENSMUSP00000062392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059595] [ENSMUST00000100302]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000059595
AA Change: G450R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: G450R

DomainStartEndE-ValueType
C1 37 86 3.09e-16 SMART
C1 102 151 1.33e-15 SMART
C2 172 275 7.66e-26 SMART
S_TKc 339 597 8.85e-98 SMART
S_TK_X 598 660 1.58e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100302
AA Change: G26R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097875
Gene: ENSMUSG00000050965
AA Change: G26R

DomainStartEndE-ValueType
Pfam:Pkinase 2 173 9.3e-44 PFAM
Pfam:Pkinase_Tyr 3 159 3.7e-25 PFAM
S_TK_X 174 236 1.58e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134910
Meta Mutation Damage Score 0.9002 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 94% (51/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show no overt macroscopic abnormalities, however examination of one line revealed increased cardiac muscle contractility and protection against heart failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
7530416G11Rik A G 15: 85,378,292 (GRCm39) F117S unknown Het
Adamts5 A G 16: 85,665,009 (GRCm39) W652R probably damaging Het
Adamtsl4 G T 3: 95,588,167 (GRCm39) Q607K probably damaging Het
Atm T C 9: 53,417,936 (GRCm39) probably benign Het
Atp6v0a2 G A 5: 124,777,203 (GRCm39) R168Q probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Baiap2l1 T C 5: 144,215,345 (GRCm39) T387A possibly damaging Het
Cct3 A T 3: 88,228,334 (GRCm39) Q472L probably benign Het
Chd3 C T 11: 69,250,011 (GRCm39) E623K probably damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dclre1a A T 19: 56,533,752 (GRCm39) C263S probably benign Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Eif2ak1 A T 5: 143,821,479 (GRCm39) Q265L probably benign Het
Elp1 G A 4: 56,759,852 (GRCm39) R1138C probably damaging Het
Epha3 A G 16: 63,431,327 (GRCm39) F526L probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fat2 C A 11: 55,172,589 (GRCm39) G2708V probably damaging Het
Fgd6 G A 10: 93,925,499 (GRCm39) E853K probably damaging Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Fsd1 A G 17: 56,300,893 (GRCm39) K251E probably benign Het
Gjc3 T A 5: 137,956,105 (GRCm39) N60I possibly damaging Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
H6pd T A 4: 150,080,230 (GRCm39) Y197F possibly damaging Het
Hip1r C T 5: 124,139,854 (GRCm39) R986* probably null Het
Igkv9-120 A G 6: 68,027,362 (GRCm39) D92G probably damaging Het
Il6 A G 5: 30,223,066 (GRCm39) K128E possibly damaging Het
Irf4 T C 13: 30,945,473 (GRCm39) probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Ltbp2 A G 12: 84,831,681 (GRCm39) probably benign Het
Pcmt1 C T 10: 7,524,814 (GRCm39) probably null Het
Plekhm2 C T 4: 141,369,301 (GRCm39) probably benign Het
Psme3 C A 11: 101,210,282 (GRCm39) P82T probably damaging Het
Rgs11 T C 17: 26,426,561 (GRCm39) I262T probably damaging Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpina1e A T 12: 103,917,132 (GRCm39) V179E probably damaging Het
Sgo2b T C 8: 64,380,777 (GRCm39) Q685R possibly damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slc25a45 C T 19: 5,930,661 (GRCm39) probably benign Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Spen A G 4: 141,205,192 (GRCm39) V1145A unknown Het
Stub1 T C 17: 26,050,276 (GRCm39) probably benign Het
Taar8a A G 10: 23,952,923 (GRCm39) I176V probably benign Het
Tacr2 G A 10: 62,100,865 (GRCm39) C325Y probably damaging Het
Tbc1d17 T A 7: 44,495,362 (GRCm39) H154L probably damaging Het
Tll1 A T 8: 64,658,258 (GRCm39) C54S possibly damaging Het
Tpsb2 G A 17: 25,586,457 (GRCm39) V181I probably damaging Het
Trak1 A G 9: 121,274,939 (GRCm39) N146S probably null Het
Vmn1r177 T C 7: 23,565,289 (GRCm39) I196V possibly damaging Het
Zfp820 T C 17: 22,037,877 (GRCm39) I484V probably benign Het
Other mutations in Prkca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Prkca APN 11 108,234,334 (GRCm39) missense probably benign 0.10
IGL00903:Prkca APN 11 107,874,800 (GRCm39) missense probably damaging 1.00
IGL01385:Prkca APN 11 107,869,178 (GRCm39) missense probably damaging 1.00
IGL01396:Prkca APN 11 107,905,148 (GRCm39) missense possibly damaging 0.59
IGL01480:Prkca APN 11 107,877,115 (GRCm39) missense possibly damaging 0.93
IGL01480:Prkca APN 11 108,083,027 (GRCm39) missense probably damaging 1.00
IGL01516:Prkca APN 11 107,852,428 (GRCm39) missense probably null 1.00
IGL01553:Prkca APN 11 107,948,660 (GRCm39) missense probably benign 0.15
IGL02975:Prkca APN 11 108,231,503 (GRCm39) nonsense probably null
IGL03402:Prkca APN 11 108,231,489 (GRCm39) missense probably benign 0.20
R0101:Prkca UTSW 11 107,948,626 (GRCm39) missense probably damaging 1.00
R0279:Prkca UTSW 11 107,944,937 (GRCm39) splice site probably benign
R0454:Prkca UTSW 11 107,869,106 (GRCm39) missense probably benign
R0513:Prkca UTSW 11 107,905,202 (GRCm39) missense possibly damaging 0.82
R0711:Prkca UTSW 11 107,872,480 (GRCm39) missense probably benign 0.16
R0894:Prkca UTSW 11 107,903,518 (GRCm39) missense possibly damaging 0.66
R0966:Prkca UTSW 11 107,905,110 (GRCm39) missense possibly damaging 0.56
R1432:Prkca UTSW 11 107,830,346 (GRCm39) missense probably benign 0.27
R1518:Prkca UTSW 11 107,869,142 (GRCm39) missense probably damaging 1.00
R1667:Prkca UTSW 11 107,874,772 (GRCm39) missense probably damaging 1.00
R1795:Prkca UTSW 11 107,903,518 (GRCm39) missense possibly damaging 0.66
R1909:Prkca UTSW 11 107,830,438 (GRCm39) missense possibly damaging 0.68
R1932:Prkca UTSW 11 108,082,975 (GRCm39) missense probably benign 0.13
R2509:Prkca UTSW 11 107,870,032 (GRCm39) missense probably damaging 1.00
R4018:Prkca UTSW 11 107,830,428 (GRCm39) missense probably damaging 1.00
R4684:Prkca UTSW 11 107,852,434 (GRCm39) missense probably damaging 0.99
R5132:Prkca UTSW 11 108,082,943 (GRCm39) splice site probably benign
R5298:Prkca UTSW 11 107,903,510 (GRCm39) missense probably damaging 0.98
R5546:Prkca UTSW 11 107,944,806 (GRCm39) missense probably benign 0.14
R5558:Prkca UTSW 11 107,872,473 (GRCm39) missense probably damaging 1.00
R5616:Prkca UTSW 11 107,869,169 (GRCm39) missense possibly damaging 0.85
R5626:Prkca UTSW 11 107,948,641 (GRCm39) missense possibly damaging 0.94
R5931:Prkca UTSW 11 107,905,136 (GRCm39) missense probably benign 0.01
R6061:Prkca UTSW 11 107,948,671 (GRCm39) missense probably benign 0.03
R7125:Prkca UTSW 11 107,874,848 (GRCm39) missense probably damaging 1.00
R7283:Prkca UTSW 11 108,231,471 (GRCm39) critical splice donor site probably null
R7329:Prkca UTSW 11 107,905,103 (GRCm39) missense possibly damaging 0.73
R7510:Prkca UTSW 11 107,874,820 (GRCm39) missense possibly damaging 0.89
R7670:Prkca UTSW 11 107,905,170 (GRCm39) missense probably damaging 0.98
R7890:Prkca UTSW 11 107,903,510 (GRCm39) missense probably damaging 0.98
R8769:Prkca UTSW 11 107,842,286 (GRCm39) splice site probably benign
R9040:Prkca UTSW 11 107,905,186 (GRCm39) missense possibly damaging 0.89
R9096:Prkca UTSW 11 107,905,061 (GRCm39) missense probably benign 0.00
R9097:Prkca UTSW 11 107,905,061 (GRCm39) missense probably benign 0.00
R9176:Prkca UTSW 11 107,870,244 (GRCm39) missense possibly damaging 0.83
R9763:Prkca UTSW 11 107,903,867 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- TGTAACACCTCTGAGCCTCC -3'
(R):5'- GTAGGGAATAAGTGAGCTCCTC -3'

Sequencing Primer
(F):5'- GCCTCCAAGCAAAGCAGTGG -3'
(R):5'- GCACGTGAAGGGTGATCTC -3'
Posted On 2015-04-17