Incidental Mutation 'R4977:Prkch'
ID 382794
Institutional Source Beutler Lab
Gene Symbol Prkch
Ensembl Gene ENSMUSG00000021108
Gene Name protein kinase C, eta
Synonyms Pkch
MMRRC Submission 042572-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4977 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 73584796-73778185 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73702893 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 420 (F420S)
Ref Sequence ENSEMBL: ENSMUSP00000021527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021527] [ENSMUST00000221153]
AlphaFold P23298
Predicted Effect possibly damaging
Transcript: ENSMUST00000021527
AA Change: F420S

PolyPhen 2 Score 0.523 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: F420S

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

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: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.2%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,136,073 (GRCm38) D910G probably benign Het
Amy1 C T 3: 113,569,377 (GRCm38) probably null Het
C1s2 A G 6: 124,635,639 (GRCm38) M19T probably damaging Het
Cadps2 A G 6: 23,599,479 (GRCm38) I276T probably damaging Het
Cdyl2 A G 8: 116,575,269 (GRCm38) C458R probably damaging Het
Cep112 T C 11: 108,434,236 (GRCm38) S35P probably damaging Het
Chd9 T C 8: 91,033,708 (GRCm38) L2027P possibly damaging Het
Clcn4 T A 7: 7,291,437 (GRCm38) I411F probably benign Het
Cyp3a57 T C 5: 145,349,426 (GRCm38) probably null Het
Dis3l A C 9: 64,307,201 (GRCm38) S919A probably benign Het
Dnah8 A G 17: 30,663,301 (GRCm38) T616A probably benign Het
Emx2 A G 19: 59,459,246 (GRCm38) T11A probably damaging Het
Fam160a2 A T 7: 105,389,335 (GRCm38) D232E probably damaging Het
Fbxl18 A G 5: 142,886,085 (GRCm38) L465P probably damaging Het
Fbxw27 G A 9: 109,772,119 (GRCm38) T311I probably damaging Het
Fstl5 C T 3: 76,410,494 (GRCm38) Q156* probably null Het
Ggn G T 7: 29,172,196 (GRCm38) G334C probably damaging Het
Grik2 T C 10: 49,132,745 (GRCm38) N749D probably damaging Het
Helb A G 10: 120,110,881 (GRCm38) S176P probably benign Het
Hyal1 A G 9: 107,578,954 (GRCm38) D73G probably benign Het
Ifi205 C A 1: 174,015,008 (GRCm38) R374I probably benign Het
Ift172 A T 5: 31,272,116 (GRCm38) V567D possibly damaging Het
Ighv1-43 A T 12: 114,946,225 (GRCm38) S26T possibly damaging Het
Il21 C A 3: 37,232,504 (GRCm38) S21I probably damaging Het
Jam3 A G 9: 27,098,373 (GRCm38) V309A probably damaging Het
Kcnh4 A T 11: 100,746,833 (GRCm38) L666Q probably damaging Het
Kcnk10 A G 12: 98,440,687 (GRCm38) V250A probably benign Het
Lama1 A G 17: 67,737,682 (GRCm38) Y192C probably damaging Het
Lamb2 G A 9: 108,487,647 (GRCm38) R1200H probably damaging Het
Lilra6 T G 7: 3,914,383 (GRCm38) R204S probably benign Het
Lrrn1 A G 6: 107,568,707 (GRCm38) I489V probably benign Het
Mdh2 T A 5: 135,783,409 (GRCm38) D57E probably damaging Het
Mfsd2a A G 4: 122,950,509 (GRCm38) S282P probably benign Het
Midn T A 10: 80,150,184 (GRCm38) I36N probably damaging Het
Mpped1 A T 15: 83,796,706 (GRCm38) probably benign Het
Myh10 A G 11: 68,798,371 (GRCm38) D1258G possibly damaging Het
Nup62 T C 7: 44,829,025 (GRCm38) S155P possibly damaging Het
Olfr130 A T 17: 38,067,747 (GRCm38) H192L possibly damaging Het
Olfr325 A G 11: 58,581,629 (GRCm38) T262A possibly damaging Het
Olfr598 A T 7: 103,328,833 (GRCm38) M116L probably benign Het
Pex7 T C 10: 19,869,332 (GRCm38) T258A probably benign Het
Plg A G 17: 12,403,089 (GRCm38) D432G probably damaging Het
Plxnd1 A T 6: 115,994,376 (GRCm38) S144T probably damaging Het
Psg26 A G 7: 18,475,310 (GRCm38) V391A probably benign Het
Psg29 G A 7: 17,208,631 (GRCm38) G186R probably damaging Het
Rev3l T A 10: 39,823,578 (GRCm38) I1357K possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,579,916 (GRCm38) probably benign Het
Runx1 T A 16: 92,644,347 (GRCm38) probably null Het
Sapcd1 A T 17: 35,026,451 (GRCm38) S119T possibly damaging Het
Sema5a T A 15: 32,679,186 (GRCm38) N870K probably damaging Het
Serpina3f G A 12: 104,217,055 (GRCm38) E59K probably benign Het
Slc8b1 A G 5: 120,524,287 (GRCm38) K299E possibly damaging Het
Slco1b2 G A 6: 141,657,557 (GRCm38) M221I probably benign Het
Smg5 C T 3: 88,355,725 (GRCm38) Q812* probably null Het
Smr3a T G 5: 88,008,103 (GRCm38) probably null Het
Syt9 G A 7: 107,504,272 (GRCm38) D426N probably damaging Het
Tcf25 T C 8: 123,388,635 (GRCm38) Y204H probably benign Het
Tmeff2 T A 1: 50,979,556 (GRCm38) C232* probably null Het
Tmem184a C A 5: 139,808,002 (GRCm38) G219V probably null Het
Tnc G T 4: 64,006,248 (GRCm38) T1071K possibly damaging Het
Tnn C A 1: 160,120,618 (GRCm38) G842W probably damaging Het
Tshz3 T A 7: 36,771,190 (GRCm38) I868N probably benign Het
Ulbp1 C T 10: 7,447,391 (GRCm38) R238H probably benign Het
Ushbp1 C T 8: 71,395,049 (GRCm38) probably null Het
Usp34 G C 11: 23,488,982 (GRCm38) D3515H probably damaging Het
Wdr91 T C 6: 34,910,791 (GRCm38) E10G probably damaging Het
Xdh A T 17: 73,898,970 (GRCm38) F1016L probably benign Het
Zfp235 T G 7: 24,142,184 (GRCm38) I676S possibly damaging Het
Zfp619 G A 7: 39,537,387 (GRCm38) C947Y probably damaging Het
Zfp663 A G 2: 165,353,811 (GRCm38) S163P probably damaging Het
Zfp93 A G 7: 24,275,411 (GRCm38) I274V probably benign Het
Zswim4 C T 8: 84,226,667 (GRCm38) probably null Het
Other mutations in Prkch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Prkch APN 12 73,702,589 (GRCm38) splice site probably benign
IGL00548:Prkch APN 12 73,702,811 (GRCm38) missense probably damaging 1.00
IGL01310:Prkch APN 12 73,759,013 (GRCm38) missense possibly damaging 0.78
IGL01782:Prkch APN 12 73,759,662 (GRCm38) missense probably damaging 1.00
IGL02335:Prkch APN 12 73,702,512 (GRCm38) missense probably benign 0.00
Nighthawk UTSW 12 73,721,842 (GRCm38) missense probably damaging 1.00
Topsoil UTSW 12 73,585,527 (GRCm38) critical splice donor site probably null
wolfcreek UTSW 12 73,759,710 (GRCm38) missense probably damaging 1.00
G1Funyon:Prkch UTSW 12 73,702,764 (GRCm38) missense possibly damaging 0.71
R0084:Prkch UTSW 12 73,697,987 (GRCm38) missense possibly damaging 0.87
R0127:Prkch UTSW 12 73,721,787 (GRCm38) missense possibly damaging 0.94
R0471:Prkch UTSW 12 73,691,652 (GRCm38) missense probably benign 0.03
R0490:Prkch UTSW 12 73,759,676 (GRCm38) missense probably damaging 1.00
R1402:Prkch UTSW 12 73,585,389 (GRCm38) missense probably damaging 1.00
R1402:Prkch UTSW 12 73,585,389 (GRCm38) missense probably damaging 1.00
R1552:Prkch UTSW 12 73,702,546 (GRCm38) missense probably benign 0.33
R1572:Prkch UTSW 12 73,649,357 (GRCm38) critical splice donor site probably null
R1651:Prkch UTSW 12 73,759,001 (GRCm38) missense possibly damaging 0.88
R2114:Prkch UTSW 12 73,702,516 (GRCm38) missense probably benign
R3714:Prkch UTSW 12 73,775,516 (GRCm38) missense probably damaging 1.00
R4515:Prkch UTSW 12 73,702,838 (GRCm38) missense possibly damaging 0.76
R4749:Prkch UTSW 12 73,692,960 (GRCm38) missense probably damaging 1.00
R5381:Prkch UTSW 12 73,691,592 (GRCm38) missense probably damaging 0.99
R5682:Prkch UTSW 12 73,697,950 (GRCm38) missense probably damaging 1.00
R6526:Prkch UTSW 12 73,702,775 (GRCm38) missense probably damaging 1.00
R6864:Prkch UTSW 12 73,759,617 (GRCm38) missense probably damaging 1.00
R7484:Prkch UTSW 12 73,585,527 (GRCm38) critical splice donor site probably null
R8074:Prkch UTSW 12 73,700,267 (GRCm38) missense possibly damaging 0.49
R8294:Prkch UTSW 12 73,759,710 (GRCm38) missense probably damaging 1.00
R8301:Prkch UTSW 12 73,702,764 (GRCm38) missense possibly damaging 0.71
R8312:Prkch UTSW 12 73,760,584 (GRCm38) missense noncoding transcript
R8734:Prkch UTSW 12 73,585,244 (GRCm38) missense possibly damaging 0.62
R8766:Prkch UTSW 12 73,702,538 (GRCm38) missense probably benign 0.01
R8998:Prkch UTSW 12 73,696,199 (GRCm38) missense probably damaging 1.00
R8999:Prkch UTSW 12 73,696,199 (GRCm38) missense probably damaging 1.00
R9058:Prkch UTSW 12 73,775,534 (GRCm38) critical splice donor site probably null
R9152:Prkch UTSW 12 73,691,644 (GRCm38) missense possibly damaging 0.91
R9176:Prkch UTSW 12 73,700,194 (GRCm38) missense probably damaging 1.00
R9194:Prkch UTSW 12 73,721,842 (GRCm38) missense probably damaging 1.00
R9691:Prkch UTSW 12 73,758,956 (GRCm38) missense probably damaging 1.00
R9764:Prkch UTSW 12 73,700,304 (GRCm38) missense probably benign 0.00
R9794:Prkch UTSW 12 73,697,970 (GRCm38) missense possibly damaging 0.64
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-04-27