Incidental Mutation 'IGL01310:Prkch'
ID73638
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 #IGL01310
Quality Score
Status
Chromosome12
Chromosomal Location73584796-73778185 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73759013 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 521 (I521V)
Ref Sequence ENSEMBL: ENSMUSP00000021527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021527] [ENSMUST00000221153]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021527
AA Change: I521V

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: I521V

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik C A 6: 50,574,195 V425L probably benign Het
4930431F12Rik A T 5: 44,967,814 noncoding transcript Het
Abca12 A T 1: 71,284,156 I1589N probably benign Het
Abca8a T G 11: 110,059,975 D888A probably benign Het
Adam5 C T 8: 24,742,134 probably benign Het
Amer1 A T X: 95,427,110 N467K probably benign Het
Atp6v0a2 A G 5: 124,646,028 D272G probably damaging Het
Cacna1b A T 2: 24,685,782 N751K probably damaging Het
Cfi T A 3: 129,858,431 N250K probably damaging Het
Cndp2 G T 18: 84,670,877 P260Q possibly damaging Het
Cnnm3 A G 1: 36,512,875 D322G probably benign Het
Crybg1 A G 10: 44,003,600 S531P probably damaging Het
Crybg1 A T 10: 43,975,058 S1606T possibly damaging Het
Espnl A T 1: 91,340,611 K320* probably null Het
Glt1d1 A G 5: 127,632,320 T13A possibly damaging Het
Gpam C T 19: 55,078,332 A584T possibly damaging Het
Gpr19 A G 6: 134,869,742 I289T probably damaging Het
Grm8 T C 6: 27,363,801 I572V probably damaging Het
Gtpbp4 A T 13: 8,977,272 N502K probably benign Het
Herpud2 T C 9: 25,150,951 M6V probably benign Het
Igdcc3 T C 9: 65,178,442 V263A probably damaging Het
Il33 G A 19: 29,952,756 A65T probably benign Het
Itga9 T A 9: 118,769,159 M1K probably null Het
Izumo3 T C 4: 92,146,980 probably benign Het
Kdr G A 5: 75,949,601 P909S probably damaging Het
Kirrel C T 3: 87,089,875 E262K probably benign Het
Krt25 T A 11: 99,318,170 Q278L probably benign Het
Lgi2 G T 5: 52,554,465 P195Q probably benign Het
Lpcat3 T C 6: 124,699,338 F120S possibly damaging Het
Nalcn C T 14: 123,317,249 R910Q probably benign Het
Nrxn1 A G 17: 90,059,474 probably null Het
Nuf2 A T 1: 169,498,862 V440E probably benign Het
Olfr1130 T A 2: 87,607,508 I40N possibly damaging Het
Olfr1306 C T 2: 111,912,307 V208M probably benign Het
Olfr615 C T 7: 103,560,801 S108F probably benign Het
Olfr775 T C 10: 129,250,996 I154T possibly damaging Het
Pfpl A G 19: 12,428,610 D75G probably damaging Het
Pgm5 A G 19: 24,834,766 V134A possibly damaging Het
Rps6kc1 T A 1: 190,783,625 E968V probably benign Het
Slc25a30 T C 14: 75,769,597 Y153C probably damaging Het
Smtnl2 T A 11: 72,401,345 probably null Het
Tbc1d14 T A 5: 36,543,200 K275* probably null Het
Tnc T C 4: 64,013,077 T799A probably benign Het
Trdn A T 10: 33,305,098 probably benign Het
Ttn T C 2: 76,876,535 probably benign Het
Uaca T C 9: 60,872,225 M1296T probably benign Het
Ubash3a A C 17: 31,215,142 I154L probably benign Het
Vmn2r4 T A 3: 64,409,779 probably null Het
Xpc T C 6: 91,490,107 K915E probably benign Het
Zfp318 T C 17: 46,413,227 I2052T possibly damaging Het
Other mutations in Prkch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Prkch APN 12 73702589 splice site probably benign
IGL00548:Prkch APN 12 73702811 missense probably damaging 1.00
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 On2013-10-07