Incidental Mutation 'R6526:Prkch'
ID 521908
Institutional Source Beutler Lab
Gene Symbol Prkch
Ensembl Gene ENSMUSG00000021108
Gene Name protein kinase C, eta
Synonyms Pkch
MMRRC Submission 044652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6526 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 73631570-73824959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73749549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 381 (Y381H)
Ref Sequence ENSEMBL: ENSMUSP00000021527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021527] [ENSMUST00000221153]
AlphaFold P23298
Predicted Effect probably damaging
Transcript: ENSMUST00000021527
AA Change: Y381H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: Y381H

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,331 (GRCm39) probably null Het
Abcc3 C T 11: 94,250,198 (GRCm39) G975D probably benign Het
Abhd13 G A 8: 10,037,777 (GRCm39) G125S probably damaging Het
Ache T A 5: 137,288,906 (GRCm39) L204Q probably damaging Het
Acnat2 A G 4: 49,383,497 (GRCm39) S19P probably benign Het
Adprh A G 16: 38,267,638 (GRCm39) Y216H probably benign Het
Anapc1 T A 2: 128,514,055 (GRCm39) K429* probably null Het
Anxa13 T C 15: 58,208,353 (GRCm39) noncoding transcript Het
Aprt A C 8: 123,303,555 (GRCm39) L6W probably damaging Het
Arhgef15 T C 11: 68,840,820 (GRCm39) T569A probably damaging Het
Atp11a T C 8: 12,914,999 (GRCm39) L1139P probably benign Het
Atp2b4 A G 1: 133,639,467 (GRCm39) S1136P probably damaging Het
B9d1 T A 11: 61,399,923 (GRCm39) Y90* probably null Het
Btla G A 16: 45,059,457 (GRCm39) A54T probably damaging Het
Cd63 T C 10: 128,747,358 (GRCm39) V35A probably benign Het
Chek2 T C 5: 110,996,556 (GRCm39) F173L probably damaging Het
Cntnap3 T A 13: 64,929,702 (GRCm39) N499I possibly damaging Het
Cog4 T C 8: 111,608,418 (GRCm39) L738P probably damaging Het
Cops6 T C 5: 138,162,162 (GRCm39) probably null Het
Cpeb1 T A 7: 81,011,417 (GRCm39) I175F probably benign Het
Cyp3a16 C T 5: 145,392,705 (GRCm39) D174N probably benign Het
Dnah6 T G 6: 73,051,687 (GRCm39) I2984L probably benign Het
Dock10 A T 1: 80,564,068 (GRCm39) I540N probably damaging Het
Elf5 A G 2: 103,269,578 (GRCm39) Y53C probably damaging Het
Elmod2 T C 8: 84,046,086 (GRCm39) T164A probably damaging Het
Elp1 T C 4: 56,798,812 (GRCm39) probably null Het
Epn3 A G 11: 94,385,758 (GRCm39) probably null Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Gm11115 T A 5: 88,301,909 (GRCm39) probably null Het
Golga3 T A 5: 110,352,761 (GRCm39) I884N probably damaging Het
Gria2 A T 3: 80,599,776 (GRCm39) F703I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Gtpbp2 A T 17: 46,475,037 (GRCm39) probably null Het
Herc2 T C 7: 55,807,078 (GRCm39) S2419P probably damaging Het
Inpp5d T C 1: 87,603,972 (GRCm39) probably benign Het
Kdm2b C A 5: 123,099,532 (GRCm39) V136F probably damaging Het
Klra2 T A 6: 131,198,839 (GRCm39) D234V probably benign Het
Lct A T 1: 128,228,215 (GRCm39) S1093T probably benign Het
Marchf9 A G 10: 126,892,558 (GRCm39) L310P probably benign Het
Morc1 G T 16: 48,407,487 (GRCm39) E668* probably null Het
Nbas A T 12: 13,455,426 (GRCm39) L1213F probably damaging Het
Neto1 A G 18: 86,516,873 (GRCm39) T397A possibly damaging Het
Oit3 A G 10: 59,265,462 (GRCm39) C268R probably damaging Het
Or5p55 A G 7: 107,566,669 (GRCm39) T22A probably benign Het
Pcx T C 19: 4,654,523 (GRCm39) F312L probably benign Het
Pitx2 T C 3: 129,008,432 (GRCm39) probably null Het
Pkhd1l1 G A 15: 44,361,485 (GRCm39) probably null Het
Polr1a C A 6: 71,906,427 (GRCm39) D414E possibly damaging Het
Pramel27 A G 4: 143,579,384 (GRCm39) D323G probably damaging Het
Ptger3 T A 3: 157,273,139 (GRCm39) V162E probably damaging Het
Ptgr2 T G 12: 84,360,726 (GRCm39) M332R probably damaging Het
Ptprq G T 10: 107,378,514 (GRCm39) S2009* probably null Het
Pwwp3a A G 10: 80,068,113 (GRCm39) T86A probably benign Het
Rangrf C T 11: 68,864,514 (GRCm39) G11R probably damaging Het
Rbl2 A T 8: 91,823,467 (GRCm39) Q465L probably benign Het
Rhbdd1 A T 1: 82,318,380 (GRCm39) M88L probably benign Het
Setd2 G A 9: 110,361,785 (GRCm39) M13I probably benign Het
Sirpb1a T C 3: 15,444,080 (GRCm39) Y384C probably damaging Het
Slc13a1 C T 6: 24,097,611 (GRCm39) G439S probably damaging Het
Slc41a1 T A 1: 131,768,887 (GRCm39) I239N probably damaging Het
Slit2 T A 5: 48,461,509 (GRCm39) C1502S probably damaging Het
Slit3 G A 11: 35,552,119 (GRCm39) E888K probably benign Het
Srrm3 G T 5: 135,864,088 (GRCm39) R62L probably damaging Het
Synm A G 7: 67,385,331 (GRCm39) V777A possibly damaging Het
Trmt13 T A 3: 116,385,864 (GRCm39) N31I probably damaging Het
Trpm8 G A 1: 88,289,720 (GRCm39) E893K probably damaging Het
Uqcc1 A G 2: 155,693,343 (GRCm39) F197S probably damaging Het
Vmn1r67 T A 7: 10,181,598 (GRCm39) N287K probably benign Het
Vmn2r44 A T 7: 8,381,098 (GRCm39) M265K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xdh C A 17: 74,207,546 (GRCm39) C937F probably damaging Het
Zfp846 T A 9: 20,505,167 (GRCm39) N342K probably benign Het
Other mutations in Prkch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Prkch APN 12 73,749,363 (GRCm39) splice site probably benign
IGL00548:Prkch APN 12 73,749,585 (GRCm39) missense probably damaging 1.00
IGL01310:Prkch APN 12 73,805,787 (GRCm39) missense possibly damaging 0.78
IGL01782:Prkch APN 12 73,806,436 (GRCm39) missense probably damaging 1.00
IGL02335:Prkch APN 12 73,749,286 (GRCm39) missense probably benign 0.00
Nighthawk UTSW 12 73,768,616 (GRCm39) missense probably damaging 1.00
Topsoil UTSW 12 73,632,301 (GRCm39) critical splice donor site probably null
wolfcreek UTSW 12 73,806,484 (GRCm39) missense probably damaging 1.00
G1Funyon:Prkch UTSW 12 73,749,538 (GRCm39) missense possibly damaging 0.71
R0084:Prkch UTSW 12 73,744,761 (GRCm39) missense possibly damaging 0.87
R0127:Prkch UTSW 12 73,768,561 (GRCm39) missense possibly damaging 0.94
R0471:Prkch UTSW 12 73,738,426 (GRCm39) missense probably benign 0.03
R0490:Prkch UTSW 12 73,806,450 (GRCm39) missense probably damaging 1.00
R1402:Prkch UTSW 12 73,632,163 (GRCm39) missense probably damaging 1.00
R1402:Prkch UTSW 12 73,632,163 (GRCm39) missense probably damaging 1.00
R1552:Prkch UTSW 12 73,749,320 (GRCm39) missense probably benign 0.33
R1572:Prkch UTSW 12 73,696,131 (GRCm39) critical splice donor site probably null
R1651:Prkch UTSW 12 73,805,775 (GRCm39) missense possibly damaging 0.88
R2114:Prkch UTSW 12 73,749,290 (GRCm39) missense probably benign
R3714:Prkch UTSW 12 73,822,290 (GRCm39) missense probably damaging 1.00
R4515:Prkch UTSW 12 73,749,612 (GRCm39) missense possibly damaging 0.76
R4749:Prkch UTSW 12 73,739,734 (GRCm39) missense probably damaging 1.00
R4977:Prkch UTSW 12 73,749,667 (GRCm39) missense possibly damaging 0.52
R5381:Prkch UTSW 12 73,738,366 (GRCm39) missense probably damaging 0.99
R5682:Prkch UTSW 12 73,744,724 (GRCm39) missense probably damaging 1.00
R6864:Prkch UTSW 12 73,806,391 (GRCm39) missense probably damaging 1.00
R7484:Prkch UTSW 12 73,632,301 (GRCm39) critical splice donor site probably null
R8074:Prkch UTSW 12 73,747,041 (GRCm39) missense possibly damaging 0.49
R8294:Prkch UTSW 12 73,806,484 (GRCm39) missense probably damaging 1.00
R8301:Prkch UTSW 12 73,749,538 (GRCm39) missense possibly damaging 0.71
R8312:Prkch UTSW 12 73,807,358 (GRCm39) missense noncoding transcript
R8734:Prkch UTSW 12 73,632,018 (GRCm39) missense possibly damaging 0.62
R8766:Prkch UTSW 12 73,749,312 (GRCm39) missense probably benign 0.01
R8998:Prkch UTSW 12 73,742,973 (GRCm39) missense probably damaging 1.00
R8999:Prkch UTSW 12 73,742,973 (GRCm39) missense probably damaging 1.00
R9058:Prkch UTSW 12 73,822,308 (GRCm39) critical splice donor site probably null
R9152:Prkch UTSW 12 73,738,418 (GRCm39) missense possibly damaging 0.91
R9176:Prkch UTSW 12 73,746,968 (GRCm39) missense probably damaging 1.00
R9194:Prkch UTSW 12 73,768,616 (GRCm39) missense probably damaging 1.00
R9691:Prkch UTSW 12 73,805,730 (GRCm39) missense probably damaging 1.00
R9764:Prkch UTSW 12 73,747,078 (GRCm39) missense probably benign 0.00
R9794:Prkch UTSW 12 73,744,744 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- ACTTTGAGTTCATCCGGGTG -3'
(R):5'- CCTGTCATACTCATAGTGGGGAG -3'

Sequencing Primer
(F):5'- AGCTTCGGGAAGGTGAGTC -3'
(R):5'- GGAGTACCCAGCCATACTCACTG -3'
Posted On 2018-06-06