Incidental Mutation 'IGL00432:Prkch'
ID4404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkch
Ensembl Gene ENSMUSG00000021108
Gene Nameprotein kinase C, eta
SynonymsPkch
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00432
Quality Score
Status
Chromosome12
Chromosomal Location73584796-73778185 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 73702589 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021527] [ENSMUST00000221153]
Predicted Effect probably benign
Transcript: ENSMUST00000021527
SMART Domains Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108

DomainStartEndE-ValueType
C2 11 117 1.28e-13 SMART
C1 172 222 7.92e-14 SMART
C1 246 295 2.48e-15 SMART
S_TKc 355 614 5.62e-100 SMART
S_TK_X 615 678 8.32e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119092
SMART Domains Protein: ENSMUSP00000112499
Gene: ENSMUSG00000021108

DomainStartEndE-ValueType
C2 11 117 1.28e-13 SMART
C1 172 222 7.92e-14 SMART
C1 246 295 2.48e-15 SMART
S_TKc 355 597 6.67e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221153
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: 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. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in the human gene are associated with susceptibility to cerebral infarction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit thymus hypoplasia, enlarged lymph nodes and alterations in T cell homeostasis and activation. Mice homozygous for a different knock-out allele show impaired wound healing and increased incidence of tumors by chemical induction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A T 1: 130,742,836 Q265L possibly damaging Het
Akr1c18 T A 13: 4,137,233 H168L probably damaging Het
Arid3b A G 9: 57,833,924 S80P possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brd1 A C 15: 88,730,158 V178G probably benign Het
Brd2 C T 17: 34,114,423 R26Q probably damaging Het
Ddr2 T C 1: 169,997,958 M358V probably benign Het
Dnajc14 A G 10: 128,806,332 D41G probably damaging Het
Erap1 T G 13: 74,673,659 V711G probably benign Het
Gchfr A G 2: 119,169,748 R37G probably damaging Het
Gm20518 T A 16: 17,858,498 N136I probably damaging Het
Grm6 A T 11: 50,863,297 probably benign Het
Hydin T A 8: 110,601,252 V4797E probably damaging Het
Iws1 C A 18: 32,084,688 N448K probably benign Het
Lin7c T C 2: 109,896,453 probably benign Het
Lrrc40 T A 3: 158,048,450 L196Q probably damaging Het
Lrrtm2 C T 18: 35,213,268 G327D probably benign Het
Masp1 C T 16: 23,513,851 C78Y probably damaging Het
Mmd C T 11: 90,264,534 R101W probably damaging Het
Myo1d A G 11: 80,601,740 Y730H probably benign Het
Pcdh15 A G 10: 74,291,082 probably benign Het
Pglyrp4 G A 3: 90,739,028 V290M probably damaging Het
Plxna2 G A 1: 194,644,096 V113I probably benign Het
Rabgef1 G T 5: 130,208,724 E213* probably null Het
Rdh16f2 T A 10: 127,866,664 C37S probably damaging Het
Reln A G 5: 22,010,127 Y1109H probably damaging Het
Scn7a A T 2: 66,741,982 L215* probably null Het
Slc25a33 A T 4: 149,744,919 L261H probably damaging Het
Slc28a3 A T 13: 58,569,411 probably null Het
Slc38a6 T C 12: 73,351,803 I369T probably benign Het
Tgm4 A T 9: 123,062,382 probably benign Het
Tnr A G 1: 159,861,245 I426V probably benign Het
Vmn1r216 A G 13: 23,099,404 I86V probably benign Het
Wwc1 G A 11: 35,844,202 P949S possibly damaging Het
Zfp326 A T 5: 105,896,533 I286F probably damaging Het
Other mutations in Prkch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00548:Prkch APN 12 73702811 missense probably damaging 1.00
IGL01310:Prkch APN 12 73759013 missense possibly damaging 0.78
IGL01782:Prkch APN 12 73759662 missense probably damaging 1.00
IGL02335:Prkch APN 12 73702512 missense probably benign 0.00
R0084:Prkch UTSW 12 73697987 missense possibly damaging 0.87
R0127:Prkch UTSW 12 73721787 missense possibly damaging 0.94
R0471:Prkch UTSW 12 73691652 missense probably benign 0.03
R0490:Prkch UTSW 12 73759676 missense probably damaging 1.00
R1402:Prkch UTSW 12 73585389 missense probably damaging 1.00
R1402:Prkch UTSW 12 73585389 missense probably damaging 1.00
R1552:Prkch UTSW 12 73702546 missense probably benign 0.33
R1572:Prkch UTSW 12 73649357 critical splice donor site probably null
R1651:Prkch UTSW 12 73759001 missense possibly damaging 0.88
R2114:Prkch UTSW 12 73702516 missense probably benign
R3714:Prkch UTSW 12 73775516 missense probably damaging 1.00
R4515:Prkch UTSW 12 73702838 missense possibly damaging 0.76
R4749:Prkch UTSW 12 73692960 missense probably damaging 1.00
R4977:Prkch UTSW 12 73702893 missense possibly damaging 0.52
R5381:Prkch UTSW 12 73691592 missense probably damaging 0.99
R5682:Prkch UTSW 12 73697950 missense probably damaging 1.00
R6526:Prkch UTSW 12 73702775 missense probably damaging 1.00
R6864:Prkch UTSW 12 73759617 missense probably damaging 1.00
R7484:Prkch UTSW 12 73585527 critical splice donor site probably null
R8074:Prkch UTSW 12 73700267 missense possibly damaging 0.49
R8294:Prkch UTSW 12 73759710 missense probably damaging 1.00
R8301:Prkch UTSW 12 73702764 missense possibly damaging 0.71
R8312:Prkch UTSW 12 73760584 missense noncoding transcript
Posted On2012-04-20