Incidental Mutation 'IGL03225:Prkcz'
ID 413756
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 # IGL03225
Quality Score
Status
Chromosome 4
Chromosomal Location 155344586-155445818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155352652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 492 (F492I)
Ref Sequence ENSEMBL: ENSMUSP00000030922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030922] [ENSMUST00000103178]
AlphaFold Q02956
Predicted Effect probably damaging
Transcript: ENSMUST00000030922
AA Change: F492I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: F492I

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 possibly damaging
Transcript: ENSMUST00000103178
AA Change: F309I

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: F309I

DomainStartEndE-ValueType
S_TKc 69 335 5.49e-94 SMART
S_TK_X 336 399 2.58e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140256
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A G 7: 50,249,668 (GRCm39) K234R probably benign Het
Adam21 T C 12: 81,606,043 (GRCm39) E573G probably benign Het
Aox4 A T 1: 58,286,386 (GRCm39) I673F possibly damaging Het
Arfgef1 A T 1: 10,224,543 (GRCm39) I1431N probably damaging Het
Cask A G X: 13,531,760 (GRCm39) M103V possibly damaging Het
Clba1 T C 12: 112,779,211 (GRCm39) Y283H probably damaging Het
Fam83h T C 15: 75,875,150 (GRCm39) E729G probably damaging Het
Gnb4 T C 3: 32,641,881 (GRCm39) T249A probably damaging Het
Gpr12 A G 5: 146,520,761 (GRCm39) S54P probably damaging Het
Krt20 A G 11: 99,322,756 (GRCm39) V293A probably damaging Het
Lonrf1 A G 8: 36,689,855 (GRCm39) V706A probably damaging Het
Lrrc58 T G 16: 37,701,632 (GRCm39) C303W probably damaging Het
Mbnl2 A G 14: 120,622,875 (GRCm39) T138A probably benign Het
Mss51 G A 14: 20,537,205 (GRCm39) R88* probably null Het
Nup214 T A 2: 31,924,423 (GRCm39) S146T probably damaging Het
Otop2 G A 11: 115,220,633 (GRCm39) R491H probably damaging Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Sgtb T C 13: 104,268,453 (GRCm39) L163P probably damaging Het
Spsb3 T C 17: 25,110,045 (GRCm39) I365T possibly damaging Het
Tmem273 A G 14: 32,527,133 (GRCm39) I33M probably damaging Het
Trio T C 15: 27,902,781 (GRCm39) I227V probably benign Het
Vdac1 G A 11: 52,267,482 (GRCm39) R93H probably benign Het
Wasf2 A G 4: 132,903,857 (GRCm39) T22A probably benign Het
Other mutations in Prkcz
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Prkcz APN 4 155,378,858 (GRCm39) splice site probably benign
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
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 2016-08-02