Incidental Mutation 'R0471:Prkch'
ID 46779
Institutional Source Beutler Lab
Gene Symbol Prkch
Ensembl Gene ENSMUSG00000021108
Gene Name protein kinase C, eta
Synonyms Pkch
MMRRC Submission 038671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0471 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 73631570-73824959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73738426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 178 (Y178H)
Ref Sequence ENSEMBL: ENSMUSP00000021527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021527] [ENSMUST00000221153]
AlphaFold P23298
Predicted Effect probably benign
Transcript: ENSMUST00000021527
AA Change: Y178H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: Y178H

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
Meta Mutation Damage Score 0.2070 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,075,891 (GRCm39) probably null Het
Adam33 C A 2: 130,896,399 (GRCm39) G437C probably damaging Het
Aldh1a1 T A 19: 20,579,377 (GRCm39) M1K probably null Het
Amotl2 C A 9: 102,597,718 (GRCm39) P126Q probably damaging Het
Ap1g1 T A 8: 110,580,275 (GRCm39) M576K possibly damaging Het
Apob C A 12: 8,040,406 (GRCm39) A581E probably damaging Het
Asb7 A T 7: 66,328,907 (GRCm39) D44E probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C9orf72 G A 4: 35,193,257 (GRCm39) T232I probably benign Het
Ccdc65 A T 15: 98,615,348 (GRCm39) H118L probably benign Het
Cdc25b A G 2: 131,039,204 (GRCm39) E523G probably damaging Het
Cdk11b A G 4: 155,731,999 (GRCm39) probably benign Het
Cilk1 G T 9: 78,062,799 (GRCm39) probably null Het
Clec1b A G 6: 129,378,570 (GRCm39) probably benign Het
Cntrl A G 2: 35,017,392 (GRCm39) T400A probably benign Het
Cpne4 T G 9: 104,899,481 (GRCm39) probably null Het
Cyp2j6 T A 4: 96,419,985 (GRCm39) R249* probably null Het
Dock2 T C 11: 34,579,380 (GRCm39) I678V probably benign Het
Dqx1 C T 6: 83,036,407 (GRCm39) probably benign Het
Dsp A T 13: 38,377,326 (GRCm39) K1704* probably null Het
Eif2b2 T C 12: 85,266,957 (GRCm39) F121S probably benign Het
Ephx4 T C 5: 107,561,379 (GRCm39) V69A possibly damaging Het
Epn2 T C 11: 61,426,134 (GRCm39) Q281R probably damaging Het
Fgf3 A C 7: 144,396,547 (GRCm39) D187A probably damaging Het
Galnt18 C A 7: 111,378,506 (GRCm39) probably benign Het
Gm4871 C T 5: 144,968,402 (GRCm39) probably benign Het
Inpp4b T C 8: 82,768,528 (GRCm39) I679T possibly damaging Het
Itpkb A G 1: 180,245,820 (GRCm39) E779G probably damaging Het
Itsn1 G A 16: 91,696,477 (GRCm39) V27M probably damaging Het
Lrp2 C A 2: 69,355,578 (GRCm39) R422L probably damaging Het
Mmp25 G A 17: 23,858,858 (GRCm39) A231V possibly damaging Het
Mprip T C 11: 59,650,561 (GRCm39) S1422P probably damaging Het
Mro A T 18: 74,009,860 (GRCm39) Q176L probably benign Het
Mrpl12 A G 11: 120,379,229 (GRCm39) E192G probably damaging Het
Myo5b A T 18: 74,862,025 (GRCm39) probably benign Het
Ncam2 G T 16: 80,997,772 (GRCm39) probably benign Het
Nip7 T C 8: 107,783,949 (GRCm39) L63P probably damaging Het
Nsd3 T C 8: 26,138,450 (GRCm39) probably benign Het
Nup98 A T 7: 101,788,004 (GRCm39) V1022D probably benign Het
Or2y1e T A 11: 49,218,744 (GRCm39) C169S probably damaging Het
Or5d43 A G 2: 88,104,559 (GRCm39) V278A possibly damaging Het
Or5h22 A G 16: 58,894,633 (GRCm39) I270T probably benign Het
Or7g28 A T 9: 19,272,177 (GRCm39) L158* probably null Het
P4ha2 T C 11: 54,008,434 (GRCm39) Y214H possibly damaging Het
Pacrg A T 17: 10,795,407 (GRCm39) F184L possibly damaging Het
Parpbp T A 10: 87,929,569 (GRCm39) R426S probably damaging Het
Pcdhb5 T A 18: 37,454,359 (GRCm39) Y246* probably null Het
Pik3cg T A 12: 32,244,770 (GRCm39) T895S probably damaging Het
Rusc2 G T 4: 43,425,486 (GRCm39) R1197L probably damaging Het
Svep1 T C 4: 58,054,700 (GRCm39) E3296G possibly damaging Het
Svs3a A G 2: 164,131,801 (GRCm39) K123R probably benign Het
Sycp2l A G 13: 41,304,006 (GRCm39) probably null Het
Syne3 T C 12: 104,909,685 (GRCm39) H717R probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Trim24 T G 6: 37,892,130 (GRCm39) V151G possibly damaging Het
Trim33 T C 3: 103,234,217 (GRCm39) V56A possibly damaging Het
Trim67 C A 8: 125,521,397 (GRCm39) T253K probably benign Het
Trip12 T C 1: 84,703,928 (GRCm39) E698G probably damaging Het
Tspan14 T C 14: 40,637,353 (GRCm39) D145G probably damaging Het
Ushbp1 G A 8: 71,847,021 (GRCm39) Q204* probably null Het
Vmn1r71 G C 7: 10,482,019 (GRCm39) S223C possibly damaging Het
Vmn2r75 G T 7: 85,814,721 (GRCm39) N257K probably benign Het
Washc4 T C 10: 83,394,598 (GRCm39) probably benign Het
Zc3h7b G A 15: 81,666,169 (GRCm39) D560N probably damaging Het
Zscan21 T C 5: 138,123,402 (GRCm39) V27A probably benign Het
Zzef1 A C 11: 72,813,937 (GRCm39) E2842A probably damaging 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
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
R6526:Prkch UTSW 12 73,749,549 (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'- CCATCATTTGGGTTCTAAGGTTGGCAG -3'
(R):5'- ACTGATCACACGATCCATGCCTTC -3'

Sequencing Primer
(F):5'- ccctaaagttcctcctgtctc -3'
(R):5'- GCCTTCCTCAAAGCATTAATAACTTC -3'
Posted On 2013-06-11