Incidental Mutation 'R1651:Prkch'
ID 186407
Institutional Source Beutler Lab
Gene Symbol Prkch
Ensembl Gene ENSMUSG00000021108
Gene Name protein kinase C, eta
Synonyms Pkch
MMRRC Submission 039687-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1651 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 73631570-73824959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73805775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 517 (T517A)
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: T517A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: T517A

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 0.8711 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (66/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T A 2: 150,690,341 (GRCm39) Q118L probably benign Het
Acss1 A T 2: 150,480,357 (GRCm39) V238D possibly damaging Het
Adgrv1 T C 13: 81,635,972 (GRCm39) I3512M probably benign Het
Arhgap32 A G 9: 32,171,096 (GRCm39) Q1292R probably damaging Het
Bpnt2 A G 4: 4,792,737 (GRCm39) F123L probably damaging Het
Caskin1 C T 17: 24,721,186 (GRCm39) R509C possibly damaging Het
Cd47 T C 16: 49,714,591 (GRCm39) V147A possibly damaging Het
Cdc20b T A 13: 113,215,258 (GRCm39) Y275* probably null Het
Chd4 A G 6: 125,100,547 (GRCm39) D1745G possibly damaging Het
Crmp1 T A 5: 37,430,783 (GRCm39) S250T probably damaging Het
Crybg2 A G 4: 133,802,214 (GRCm39) K1125E probably benign Het
Crybg2 C A 4: 133,802,136 (GRCm39) P1099T possibly damaging Het
Csf1r T A 18: 61,243,473 (GRCm39) I163N possibly damaging Het
Dicer1 T C 12: 104,675,064 (GRCm39) T733A probably damaging Het
Edar A G 10: 58,441,875 (GRCm39) V339A possibly damaging Het
Efcab3 A G 11: 104,611,492 (GRCm39) R445G probably benign Het
Efcab6 A G 15: 83,755,194 (GRCm39) I1374T possibly damaging Het
Erbb2 G A 11: 98,324,283 (GRCm39) R757K probably damaging Het
Fam98a A G 17: 75,854,710 (GRCm39) V33A probably benign Het
Farp2 T C 1: 93,531,191 (GRCm39) probably null Het
Fcmr A G 1: 130,805,988 (GRCm39) T315A probably benign Het
Gdf9 G A 11: 53,324,576 (GRCm39) R115Q probably damaging Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
H2-M10.1 A G 17: 36,636,648 (GRCm39) V52A probably damaging Het
Hspg2 T A 4: 137,260,748 (GRCm39) C1582* probably null Het
Icam2 C T 11: 106,268,782 (GRCm39) V229M probably damaging Het
Itga7 C T 10: 128,784,693 (GRCm39) P735L probably benign Het
Kbtbd3 C A 9: 4,330,589 (GRCm39) P321Q possibly damaging Het
Kcnma1 T A 14: 23,364,262 (GRCm39) T997S probably damaging Het
Kifc5b T C 17: 27,144,504 (GRCm39) F541S probably damaging Het
Klhdc9 C A 1: 171,188,016 (GRCm39) V72L probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lrrtm4 A G 6: 79,999,511 (GRCm39) T308A probably benign Het
Map1b T C 13: 99,569,091 (GRCm39) E1210G unknown Het
Mocs3 A G 2: 168,073,489 (GRCm39) Y312C probably damaging Het
Mrps7 G T 11: 115,495,581 (GRCm39) E40* probably null Het
Msantd5f1 A T 4: 73,605,621 (GRCm39) N344I possibly damaging Het
Msln T C 17: 25,972,382 (GRCm39) H50R probably benign Het
Myb A G 10: 21,002,097 (GRCm39) F748S probably damaging Het
Myo10 C A 15: 25,742,455 (GRCm39) H590N probably damaging Het
Naip5 T C 13: 100,358,419 (GRCm39) E939G probably benign Het
Nbeal1 T A 1: 60,239,278 (GRCm39) V107E probably damaging Het
Nrcam A T 12: 44,623,462 (GRCm39) N1011I probably damaging Het
Or14c44 A G 7: 86,057,078 (GRCm39) probably benign Het
Or1ak2 T C 2: 36,827,335 (GRCm39) L68P probably damaging Het
Or4c118 A C 2: 88,975,346 (GRCm39) V7G probably damaging Het
Pcgf6 A T 19: 47,037,441 (GRCm39) C153S probably damaging Het
Phrf1 T C 7: 140,817,434 (GRCm39) V81A probably benign Het
Ppp4r4 A G 12: 103,550,331 (GRCm39) N36D probably benign Het
Rasal1 A T 5: 120,790,910 (GRCm39) K33* probably null Het
Rp1l1 G A 14: 64,268,442 (GRCm39) E1343K probably damaging Het
Serpinb6e T C 13: 34,020,406 (GRCm39) D234G probably benign Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Smyd3 T G 1: 178,871,441 (GRCm39) I313L probably benign Het
Tdrd9 C A 12: 111,991,140 (GRCm39) D543E probably damaging Het
Tet1 A G 10: 62,715,453 (GRCm39) L114P probably damaging Het
Tmprss11c G A 5: 86,387,283 (GRCm39) P212S probably damaging Het
Tmx2 A T 2: 84,506,461 (GRCm39) M77K probably damaging Het
Traf3 T G 12: 111,228,470 (GRCm39) D560E probably damaging Het
Trappc12 C T 12: 28,741,776 (GRCm39) M711I probably benign Het
Trim2 A G 3: 84,074,957 (GRCm39) probably null Het
Vmn2r18 A G 5: 151,485,464 (GRCm39) S677P probably damaging Het
Wdr7 T A 18: 63,853,847 (GRCm39) L60* probably null Het
Wdr93 T C 7: 79,399,830 (GRCm39) F140L probably benign Het
Zfp638 A G 6: 83,931,719 (GRCm39) T802A 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
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'- CTGACTGCCTATCACATGCTGTACC -3'
(R):5'- TTAAAGGACACTGAGCCGTGAGC -3'

Sequencing Primer
(F):5'- ACCTGGTTTCTTTCAGAGACTTG -3'
(R):5'- GCCGTGAGCGAACCAATC -3'
Posted On 2014-05-09