Incidental Mutation 'IGL03402:Prkca'
ID421459
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 essential (E-score: 0.595) question?
Stock #IGL03402
Quality Score
Status
Chromosome11
Chromosomal Location107933387-108343928 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108340663 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 63 (Q63L)
Ref Sequence ENSEMBL: ENSMUSP00000062392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059595] [ENSMUST00000133383]
Predicted Effect probably benign
Transcript: ENSMUST00000059595
AA Change: Q63L

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: Q63L

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: ENSMUST00000133383
SMART Domains Protein: ENSMUSP00000115516
Gene: ENSMUSG00000000049

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sushi 23 51 6.7e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134725
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,177,813 H81R probably benign Het
Alg10b A T 15: 90,228,329 K459* probably null Het
C8g A T 2: 25,498,812 *203K probably null Het
Cacna1b T C 2: 24,762,809 E80G probably damaging Het
Cdh12 T A 15: 21,583,740 N555K probably benign Het
Cenpf T A 1: 189,655,076 N1669I probably damaging Het
Cpsf1 A G 15: 76,596,003 probably null Het
Ear1 A G 14: 43,819,118 S98P probably benign Het
Elfn2 A T 15: 78,673,470 D292E possibly damaging Het
Fbxw24 T C 9: 109,601,248 S443G probably damaging Het
Fnip2 T C 3: 79,481,276 E716G possibly damaging Het
Gabra1 G T 11: 42,133,518 N443K probably damaging Het
Grik5 A T 7: 25,015,469 V700E probably damaging Het
Ifi27 T A 12: 103,439,513 N162K probably damaging Het
Myom2 A T 8: 15,065,731 T49S probably benign Het
Obsl1 T C 1: 75,486,799 M1750V probably benign Het
Olfr1385 A T 11: 49,495,046 H171L probably benign Het
Olfr168 A T 16: 19,530,917 M1K probably null Het
Olfr980 A T 9: 40,006,506 W148R probably benign Het
Ppp2r5e A G 12: 75,464,893 V352A probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Slfn14 T C 11: 83,276,313 K792R probably benign Het
Slfn3 C T 11: 83,213,431 T376M probably damaging Het
Snx19 A T 9: 30,440,134 I135F possibly damaging Het
Stab2 A T 10: 86,969,301 V271E probably benign Het
Trpv1 T G 11: 73,239,637 F190V possibly damaging Het
Urb2 T C 8: 124,029,849 V765A possibly damaging Het
Vmn2r61 A G 7: 42,260,255 H68R probably benign Het
Vps8 T C 16: 21,448,398 I177T possibly damaging Het
Zfp810 A C 9: 22,279,145 probably null 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
IGL01385:Prkca APN 11 107978352 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
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
R7510:Prkca UTSW 11 107983994 missense possibly damaging 0.89
R7670:Prkca UTSW 11 108014344 missense probably damaging 0.98
Posted On2016-08-02