Incidental Mutation 'IGL01385:Prkca'
ID79010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkca
Ensembl Gene ENSMUSG00000050965
Gene Nameprotein kinase C, alpha
SynonymsPkca
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.282) question?
Stock #IGL01385
Quality Score
Status
Chromosome11
Chromosomal Location107933387-108343928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 107978352 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 469 (V469A)
Ref Sequence ENSEMBL: ENSMUSP00000062392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059595] [ENSMUST00000100302]
Predicted Effect probably damaging
Transcript: ENSMUST00000059595
AA Change: V469A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: V469A

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: V45A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097875
Gene: ENSMUSG00000050965
AA Change: V45A

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
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik G A 1: 177,741,074 G46R probably benign Het
Ablim1 A T 19: 57,068,914 S292R probably damaging Het
Adamts19 A G 18: 58,972,779 T749A probably damaging Het
Agap2 A T 10: 127,087,996 I747F unknown Het
Arhgap35 T A 7: 16,564,474 N222I probably damaging Het
Atp10b A G 11: 43,234,429 E1074G probably damaging Het
Brd3 T C 2: 27,464,089 T4A possibly damaging Het
Col6a6 A G 9: 105,783,666 S415P probably damaging Het
Dennd2a A G 6: 39,523,136 V165A probably damaging Het
Dnm1l T A 16: 16,341,453 E95V probably damaging Het
Dock9 A G 14: 121,580,583 Y1609H possibly damaging Het
Esm1 A C 13: 113,216,682 E166A possibly damaging Het
F2rl2 A C 13: 95,701,328 I294L probably benign Het
Gstt3 A G 10: 75,774,988 S187P probably benign Het
Katna1 T C 10: 7,752,810 C268R probably damaging Het
Mbd5 T A 2: 49,250,221 C66S possibly damaging Het
Naa35 G A 13: 59,601,066 E167K probably damaging Het
Olfr1330 T C 4: 118,893,551 L156S probably benign Het
Osbpl2 A G 2: 180,137,080 N2S probably benign Het
Parp6 T C 9: 59,630,612 probably benign Het
Pcdhb5 T A 18: 37,322,214 V549E probably benign Het
Pcnx4 T C 12: 72,573,746 L780P probably damaging Het
Plcb3 A T 19: 6,957,908 D851E probably benign Het
Ppfia2 A G 10: 106,913,699 S1149G probably damaging Het
Ryr1 A T 7: 29,056,985 V3468D probably damaging Het
Stxbp4 A G 11: 90,540,248 V412A possibly damaging Het
Vmn1r238 G T 18: 3,122,770 Q215K possibly damaging Het
Wdr11 A G 7: 129,607,913 M482V probably benign Het
Wdr72 T C 9: 74,179,506 probably benign Het
Xirp2 T C 2: 67,509,677 L754P probably damaging Het
Zmym6 G A 4: 127,124,106 G1135S probably benign Het
Other mutations in Prkca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Prkca APN 11 108343508 missense probably benign 0.10
IGL00903:Prkca APN 11 107983974 missense probably damaging 1.00
IGL01396:Prkca APN 11 108014322 missense possibly damaging 0.59
IGL01480:Prkca APN 11 108192201 missense probably damaging 1.00
IGL01480:Prkca APN 11 107986289 missense possibly damaging 0.93
IGL01516:Prkca APN 11 107961602 missense probably null 1.00
IGL01553:Prkca APN 11 108057834 missense probably benign 0.15
IGL02975:Prkca APN 11 108340677 nonsense probably null
IGL03402:Prkca APN 11 108340663 missense probably benign 0.20
R0101:Prkca UTSW 11 108057800 missense probably damaging 1.00
R0279:Prkca UTSW 11 108054111 splice site probably benign
R0454:Prkca UTSW 11 107978280 missense probably benign
R0513:Prkca UTSW 11 108014376 missense possibly damaging 0.82
R0711:Prkca UTSW 11 107981654 missense probably benign 0.16
R0894:Prkca UTSW 11 108012692 missense possibly damaging 0.66
R0966:Prkca UTSW 11 108014284 missense possibly damaging 0.56
R1432:Prkca UTSW 11 107939520 missense probably benign 0.27
R1518:Prkca UTSW 11 107978316 missense probably damaging 1.00
R1667:Prkca UTSW 11 107983946 missense probably damaging 1.00
R1795:Prkca UTSW 11 108012692 missense possibly damaging 0.66
R1909:Prkca UTSW 11 107939612 missense possibly damaging 0.68
R1932:Prkca UTSW 11 108192149 missense probably benign 0.13
R2509:Prkca UTSW 11 107979206 missense probably damaging 1.00
R3889:Prkca UTSW 11 107979240 missense probably damaging 1.00
R4018:Prkca UTSW 11 107939602 missense probably damaging 1.00
R4684:Prkca UTSW 11 107961608 missense probably damaging 0.99
R5132:Prkca UTSW 11 108192117 splice site probably benign
R5298:Prkca UTSW 11 108012684 missense probably damaging 0.98
R5546:Prkca UTSW 11 108053980 missense probably benign 0.14
R5558:Prkca UTSW 11 107981647 missense probably damaging 1.00
R5616:Prkca UTSW 11 107978343 missense possibly damaging 0.85
R5626:Prkca UTSW 11 108057815 missense possibly damaging 0.94
R5931:Prkca UTSW 11 108014310 missense probably benign 0.01
R6061:Prkca UTSW 11 108057845 missense probably benign 0.03
R7125:Prkca UTSW 11 107984022 missense probably damaging 1.00
R7283:Prkca UTSW 11 108340645 critical splice donor site probably null
R7329:Prkca UTSW 11 108014277 missense possibly damaging 0.73
Posted On2013-11-05