Incidental Mutation 'IGL03229:Prkcz'
ID 413826
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 # IGL03229
Quality Score
Status
Chromosome 4
Chromosomal Location 155344586-155445818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 155346963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 573 (S573A)
Ref Sequence ENSEMBL: ENSMUSP00000030922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030922] [ENSMUST00000103178]
AlphaFold Q02956
Predicted Effect probably benign
Transcript: ENSMUST00000030922
AA Change: S573A

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: S573A

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
AA Change: S390A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: S390A

DomainStartEndE-ValueType
S_TKc 69 335 5.49e-94 SMART
S_TK_X 336 399 2.58e-21 SMART
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,990,936 (GRCm39) I832T probably damaging Het
Adcyap1r1 T C 6: 55,455,108 (GRCm39) S124P probably damaging Het
Ccn3 A G 15: 54,612,704 (GRCm39) T238A probably benign Het
Coq4 A G 2: 29,678,497 (GRCm39) D41G probably benign Het
Cpb1 A T 3: 20,304,001 (GRCm39) Y354* probably null Het
Dip2b T C 15: 100,105,719 (GRCm39) probably benign Het
Dmxl2 C T 9: 54,311,456 (GRCm39) R1755H probably damaging Het
Dyrk4 G T 6: 126,863,605 (GRCm39) probably benign Het
E2f7 T C 10: 110,590,207 (GRCm39) V120A probably benign Het
Fsip2 A T 2: 82,808,420 (GRCm39) I1580F possibly damaging Het
Gm9755 C A 8: 67,967,324 (GRCm39) noncoding transcript Het
Gprc6a T G 10: 51,492,699 (GRCm39) N480T probably damaging Het
H2ac20 C T 3: 96,127,953 (GRCm39) A70T probably damaging Het
H2-T9 C T 17: 36,438,614 (GRCm39) G259E probably damaging Het
Hdlbp T C 1: 93,357,909 (GRCm39) I331V probably benign Het
Heatr6 G T 11: 83,672,271 (GRCm39) G1093V probably benign Het
Kri1 T C 9: 21,193,366 (GRCm39) E162G probably damaging Het
Nckipsd T C 9: 108,688,813 (GRCm39) V116A probably benign Het
Nek10 A G 14: 14,986,686 (GRCm38) H997R probably benign Het
Nxph1 A G 6: 9,247,830 (GRCm39) Y267C probably damaging Het
Or14a256 T C 7: 86,265,286 (GRCm39) D189G probably benign Het
Or8k40 A T 2: 86,584,360 (GRCm39) C241S probably damaging Het
Ppip5k2 A T 1: 97,656,686 (GRCm39) V829E probably damaging Het
Prl2c1 T A 13: 28,040,612 (GRCm39) probably benign Het
Rgs22 T A 15: 36,015,925 (GRCm39) probably benign Het
Scn1a T A 2: 66,130,057 (GRCm39) I1253F probably damaging Het
Tarm1 A G 7: 3,545,413 (GRCm39) C146R probably damaging Het
Tor2a A T 2: 32,649,704 (GRCm39) I189F probably damaging Het
Trappc9 A T 15: 72,930,305 (GRCm39) L17Q probably damaging Het
Trim45 T A 3: 100,830,385 (GRCm39) L53Q probably damaging Het
Ubr7 T C 12: 102,735,414 (GRCm39) L291P probably damaging Het
Unc79 T C 12: 103,100,798 (GRCm39) V1878A probably damaging Het
Wdr90 T C 17: 26,064,437 (GRCm39) probably benign Het
Xpnpep1 T C 19: 53,013,811 (GRCm39) H42R probably benign Het
Zfp750 G A 11: 121,403,778 (GRCm39) H366Y possibly damaging Het
Zmynd11 A G 13: 9,739,601 (GRCm39) C462R probably damaging 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
IGL03225:Prkcz APN 4 155,352,652 (GRCm39) missense probably damaging 0.99
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