Incidental Mutation 'IGL00501:Prkcz'
ID 6513
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkcz
Ensembl Gene ENSMUSG00000029053
Gene Name protein kinase C, zeta
Synonyms aPKCzeta, zetaPKC, Pkcz
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00501
Quality Score
Status
Chromosome 4
Chromosomal Location 155344586-155445818 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 155378858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030922] [ENSMUST00000103178] [ENSMUST00000123652] [ENSMUST00000131975]
AlphaFold Q02956
Predicted Effect probably benign
Transcript: ENSMUST00000030922
SMART Domains Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053

DomainStartEndE-ValueType
PB1 15 98 4.55e-24 SMART
C1 131 180 6.73e-17 SMART
S_TKc 252 518 5.49e-94 SMART
S_TK_X 519 582 2.58e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103178
SMART Domains Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053

DomainStartEndE-ValueType
S_TKc 69 335 5.49e-94 SMART
S_TK_X 336 399 2.58e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125320
Predicted Effect probably benign
Transcript: ENSMUST00000131975
SMART Domains Protein: ENSMUSP00000116042
Gene: ENSMUSG00000029053

DomainStartEndE-ValueType
C1 23 72 6.73e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145373
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Young, not mature, homozygous null mice have reduced B cell numbers and abnormal secondary lymph organ structure. Young mice have fewer Peyer's patches, poor delineation of B & T cell zones, and fewer follicles of small size. Spleens have less prominent B cell follicles and abnormal marginal zones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,493,895 (GRCm39) I409V probably damaging Het
Adck1 A G 12: 88,335,192 (GRCm39) N26S probably benign Het
Adgrf5 G A 17: 43,760,806 (GRCm39) A834T possibly damaging Het
Agpat5 T C 8: 18,926,148 (GRCm39) probably null Het
Ano8 A C 8: 71,931,793 (GRCm39) probably null Het
Baz2a T A 10: 127,950,494 (GRCm39) M476K probably benign Het
Cgas G A 9: 78,342,869 (GRCm39) A311V probably damaging Het
Col16a1 A G 4: 129,988,345 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,910,195 (GRCm39) I113N probably benign Het
Dstn A G 2: 143,784,094 (GRCm39) T146A probably benign Het
Eif2ak1 A T 5: 143,826,288 (GRCm39) M434L probably damaging Het
Gba2 G A 4: 43,568,477 (GRCm39) A663V probably damaging Het
Gja10 T C 4: 32,601,230 (GRCm39) T385A possibly damaging Het
Gm42878 A C 5: 121,671,406 (GRCm39) I209R probably damaging Het
Grk1 T A 8: 13,457,835 (GRCm39) V245E probably damaging Het
H2az1 T C 3: 137,571,357 (GRCm39) V53A probably damaging Het
Hycc1 A G 5: 24,190,843 (GRCm39) probably benign Het
Kctd16 G A 18: 40,390,440 (GRCm39) probably benign Het
Klhdc8b C T 9: 108,326,105 (GRCm39) R263H probably benign Het
Lcn8 T C 2: 25,545,119 (GRCm39) probably benign Het
Ldlr T C 9: 21,646,657 (GRCm39) probably null Het
Lrrc40 T C 3: 157,766,919 (GRCm39) F458S probably damaging Het
Lypla1 T A 1: 4,898,810 (GRCm39) H35Q probably damaging Het
Mink1 C T 11: 70,494,638 (GRCm39) T273I probably damaging Het
Neb A G 2: 52,185,356 (GRCm39) F959L probably benign Het
Nedd4l A T 18: 65,341,163 (GRCm39) D704V probably damaging Het
Peak1 C T 9: 56,134,610 (GRCm39) E1274K probably damaging Het
Rabgap1 T A 2: 37,359,558 (GRCm39) N40K probably damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spink5 A G 18: 44,110,806 (GRCm39) T126A probably damaging Het
Tanc2 T C 11: 105,814,046 (GRCm39) V1830A probably benign Het
Tmem104 T C 11: 115,134,763 (GRCm39) I433T probably damaging Het
Trim10 G A 17: 37,187,939 (GRCm39) R385K probably benign Het
Zbtb44 A G 9: 30,965,606 (GRCm39) I339V possibly damaging Het
Other mutations in Prkcz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02114:Prkcz APN 4 155,356,047 (GRCm39) missense probably damaging 1.00
IGL02582:Prkcz APN 4 155,355,713 (GRCm39) missense probably damaging 1.00
IGL03010:Prkcz APN 4 155,371,262 (GRCm39) missense probably damaging 1.00
IGL03199:Prkcz APN 4 155,357,441 (GRCm39) missense possibly damaging 0.85
IGL03225:Prkcz APN 4 155,352,652 (GRCm39) missense probably damaging 0.99
IGL03229:Prkcz APN 4 155,346,963 (GRCm39) missense probably benign 0.19
IGL03299:Prkcz APN 4 155,371,247 (GRCm39) missense possibly damaging 0.78
PIT4403001:Prkcz UTSW 4 155,377,613 (GRCm39) critical splice donor site probably null
R0389:Prkcz UTSW 4 155,353,597 (GRCm39) missense probably damaging 1.00
R0443:Prkcz UTSW 4 155,353,597 (GRCm39) missense probably damaging 1.00
R1666:Prkcz UTSW 4 155,374,208 (GRCm39) missense probably damaging 1.00
R1668:Prkcz UTSW 4 155,374,208 (GRCm39) missense probably damaging 1.00
R1686:Prkcz UTSW 4 155,355,713 (GRCm39) missense probably damaging 1.00
R1710:Prkcz UTSW 4 155,346,969 (GRCm39) missense probably damaging 1.00
R2025:Prkcz UTSW 4 155,374,167 (GRCm39) missense probably damaging 1.00
R3162:Prkcz UTSW 4 155,374,981 (GRCm39) missense probably benign 0.00
R3162:Prkcz UTSW 4 155,374,981 (GRCm39) missense probably benign 0.00
R4399:Prkcz UTSW 4 155,353,534 (GRCm39) missense possibly damaging 0.86
R4780:Prkcz UTSW 4 155,374,159 (GRCm39) missense probably damaging 1.00
R4923:Prkcz UTSW 4 155,441,946 (GRCm39) missense probably damaging 1.00
R5160:Prkcz UTSW 4 155,377,689 (GRCm39) missense probably benign 0.22
R5510:Prkcz UTSW 4 155,357,393 (GRCm39) splice site probably null
R6278:Prkcz UTSW 4 155,352,652 (GRCm39) missense probably damaging 0.99
R6290:Prkcz UTSW 4 155,440,956 (GRCm39) missense probably damaging 1.00
R6881:Prkcz UTSW 4 155,353,513 (GRCm39) missense possibly damaging 0.90
R7055:Prkcz UTSW 4 155,374,091 (GRCm39) missense probably benign 0.01
R7108:Prkcz UTSW 4 155,371,250 (GRCm39) nonsense probably null
R7241:Prkcz UTSW 4 155,353,516 (GRCm39) missense probably benign 0.00
R7355:Prkcz UTSW 4 155,441,953 (GRCm39) missense probably damaging 1.00
R7466:Prkcz UTSW 4 155,356,059 (GRCm39) missense probably damaging 1.00
R7522:Prkcz UTSW 4 155,355,742 (GRCm39) missense probably damaging 1.00
R7618:Prkcz UTSW 4 155,346,939 (GRCm39) missense probably damaging 1.00
R7753:Prkcz UTSW 4 155,357,425 (GRCm39) missense possibly damaging 0.61
R8079:Prkcz UTSW 4 155,441,962 (GRCm39) missense probably damaging 1.00
R8407:Prkcz UTSW 4 155,352,673 (GRCm39) missense probably damaging 0.99
R8523:Prkcz UTSW 4 155,346,968 (GRCm39) missense probably damaging 1.00
R8824:Prkcz UTSW 4 155,429,285 (GRCm39) start gained probably benign
R9753:Prkcz UTSW 4 155,377,659 (GRCm39) missense probably benign 0.01
X0067:Prkcz UTSW 4 155,439,161 (GRCm39) missense probably benign 0.25
Z1176:Prkcz UTSW 4 155,440,925 (GRCm39) missense probably damaging 1.00
Z1176:Prkcz UTSW 4 155,439,137 (GRCm39) missense probably damaging 1.00
Z1177:Prkcz UTSW 4 155,385,461 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20