Incidental Mutation 'IGL02335:Prkch'
ID 289678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkch
Ensembl Gene ENSMUSG00000021108
Gene Name protein kinase C, eta
Synonyms Pkch
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02335
Quality Score
Status
Chromosome 12
Chromosomal Location 73631570-73824959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 73749286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 345 (N345K)
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: N345K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021527
Gene: ENSMUSG00000021108
AA Change: N345K

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C T 9: 99,502,266 (GRCm39) T142I probably benign Het
Aadacl2fm2 G A 3: 59,651,026 (GRCm39) M49I probably benign Het
Acaca A G 11: 84,105,084 (GRCm39) T147A possibly damaging Het
Agbl3 A G 6: 34,776,685 (GRCm39) D397G probably damaging Het
Ank1 C T 8: 23,625,654 (GRCm39) T1597M possibly damaging Het
Arl4d A G 11: 101,557,755 (GRCm39) T94A possibly damaging Het
Cd22 A G 7: 30,575,559 (GRCm39) I161T probably damaging Het
Clcn7 C T 17: 25,365,821 (GRCm39) L166F probably benign Het
Cnbd1 G T 4: 19,055,095 (GRCm39) N110K possibly damaging Het
Col14a1 A T 15: 55,327,165 (GRCm39) probably benign Het
Col6a6 C T 9: 105,661,300 (GRCm39) V270M probably damaging Het
Cox8b C A 7: 140,478,990 (GRCm39) G42W probably damaging Het
Csn1s1 A T 5: 87,828,704 (GRCm39) D275V probably benign Het
Cubn T A 2: 13,432,645 (GRCm39) probably null Het
Dctn2 T C 10: 127,111,690 (GRCm39) probably benign Het
Dnm1l A G 16: 16,160,604 (GRCm39) probably benign Het
Dpp4 T C 2: 62,164,988 (GRCm39) E687G probably benign Het
Fbxw20 T C 9: 109,052,377 (GRCm39) K249E possibly damaging Het
Fhl2 C T 1: 43,167,550 (GRCm39) W181* probably null Het
G2e3 T A 12: 51,415,941 (GRCm39) M559K probably benign Het
Gdap1l1 A T 2: 163,289,515 (GRCm39) Y160F possibly damaging Het
Gm1110 T C 9: 26,793,059 (GRCm39) I572M probably benign Het
Gpatch2l T A 12: 86,303,711 (GRCm39) probably benign Het
Kcnq4 A G 4: 120,573,051 (GRCm39) L250P probably damaging Het
Lamc2 A T 1: 153,041,962 (GRCm39) N57K probably benign Het
Lingo1 A G 9: 56,527,365 (GRCm39) L408P probably damaging Het
Mmrn1 A T 6: 60,954,131 (GRCm39) N804I possibly damaging Het
Mroh7 A G 4: 106,564,979 (GRCm39) L545S probably damaging Het
Nup188 T A 2: 30,213,648 (GRCm39) probably null Het
Or10q1 A G 19: 13,727,298 (GRCm39) D276G probably benign Het
Or11a4 A G 17: 37,536,217 (GRCm39) N67S probably damaging Het
Or5b94 T C 19: 12,651,602 (GRCm39) I11T probably damaging Het
Pls1 A T 9: 95,666,236 (GRCm39) N138K probably benign Het
Reps1 T C 10: 17,931,865 (GRCm39) probably null Het
Rrp7a T C 15: 83,006,892 (GRCm39) E15G probably benign Het
Scart2 A T 7: 139,876,453 (GRCm39) N526Y probably damaging Het
Scn1a T A 2: 66,108,005 (GRCm39) T1557S possibly damaging Het
Smtn T C 11: 3,476,215 (GRCm39) E602G probably damaging Het
Syvn1 T C 19: 6,100,123 (GRCm39) probably null Het
Tbxas1 A G 6: 39,000,014 (GRCm39) D267G probably damaging Het
Topbp1 A G 9: 103,205,722 (GRCm39) N787D probably damaging Het
Vmn2r22 T G 6: 123,615,051 (GRCm39) S180R probably damaging Het
Zfp345 T A 2: 150,316,463 (GRCm39) E48D possibly damaging Het
Zfp608 G A 18: 55,030,509 (GRCm39) Q1144* probably null Het
Zfp936 T A 7: 42,836,691 (GRCm39) L34Q 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
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
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
Posted On 2015-04-16