Incidental Mutation 'R0711:Prkca'
ID 62753
Institutional Source Beutler Lab
Gene Symbol Prkca
Ensembl Gene ENSMUSG00000050965
Gene Name protein kinase C, alpha
Synonyms Pkca
MMRRC Submission 038894-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.744) question?
Stock # R0711 (G1)
Quality Score 132
Status Validated
Chromosome 11
Chromosomal Location 107824213-108234754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107872480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 427 (Y427H)
Ref Sequence ENSEMBL: ENSMUSP00000062392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059595] [ENSMUST00000100302]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059595
AA Change: Y427H

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: Y427H

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 benign
Transcript: ENSMUST00000100302
SMART Domains Protein: ENSMUSP00000097875
Gene: ENSMUSG00000050965

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 0.0973 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) 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
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
R3889:Prkca UTSW 11 107,870,066 (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'- GAGCAGAGTTGCCCTTGGACATAG -3'
(R):5'- CACCCCTGATTGAGAGACGAACTG -3'

Sequencing Primer
(F):5'- GCCCTTGGACATAGTATCTAGAAG -3'
(R):5'- GATGTACGGATGCACATTATCCC -3'
Posted On 2013-07-30