Incidental Mutation 'R1668:Prkcz'
ID 187349
Institutional Source Beutler Lab
Gene Symbol Prkcz
Ensembl Gene ENSMUSG00000029053
Gene Name protein kinase C, zeta
Synonyms aPKCzeta, zetaPKC, Pkcz
MMRRC Submission 039704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1668 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155344586-155445818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 155374208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 69 (F69L)
Ref Sequence ENSEMBL: ENSMUSP00000099467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030922] [ENSMUST00000103178] [ENSMUST00000123652] [ENSMUST00000131975]
AlphaFold Q02956
Predicted Effect probably damaging
Transcript: ENSMUST00000030922
AA Change: F252L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030922
Gene: ENSMUSG00000029053
AA Change: F252L

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 damaging
Transcript: ENSMUST00000103178
AA Change: F69L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099467
Gene: ENSMUSG00000029053
AA Change: F69L

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2c T C 5: 35,437,641 (GRCm39) S138P probably damaging Het
Appl1 A C 14: 26,645,811 (GRCm39) S666R probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Calcoco2 T C 11: 95,993,563 (GRCm39) M140V probably benign Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Chd9 A T 8: 91,767,814 (GRCm39) H2437L probably damaging Het
Col5a3 A G 9: 20,682,392 (GRCm39) I1684T unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Dnaaf2 A G 12: 69,243,465 (GRCm39) V532A probably benign Het
Dnah10 A T 5: 124,842,626 (GRCm39) Q1358L probably benign Het
Dop1b T A 16: 93,562,404 (GRCm39) S832T probably damaging Het
Dus3l T G 17: 57,073,912 (GRCm39) F162C possibly damaging Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Ercc5 T A 1: 44,206,193 (GRCm39) S369T probably benign Het
Fbxl2 C T 9: 113,818,214 (GRCm39) V211M probably benign Het
Fermt3 A G 19: 6,996,060 (GRCm39) V45A probably damaging Het
Frs3 C A 17: 48,014,147 (GRCm39) P280Q possibly damaging Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabpa T C 16: 84,643,069 (GRCm39) V122A probably damaging Het
Gsta4 A G 9: 78,111,570 (GRCm39) T66A probably benign Het
Hsdl2 C T 4: 59,612,697 (GRCm39) T296M probably damaging Het
Kank4 T C 4: 98,667,133 (GRCm39) N438S probably damaging Het
Krt24 A G 11: 99,175,444 (GRCm39) I197T probably benign Het
Lct T C 1: 128,215,459 (GRCm39) probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mfsd4b5 T C 10: 39,849,687 (GRCm39) T111A probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Mroh9 T C 1: 162,852,161 (GRCm39) I843V possibly damaging Het
Nbeal2 T C 9: 110,467,961 (GRCm39) D436G probably damaging Het
Nbr1 A G 11: 101,460,592 (GRCm39) D502G probably benign Het
Ngfr C T 11: 95,478,371 (GRCm39) G5D probably damaging Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Notch3 T A 17: 32,377,563 (GRCm39) H171L probably damaging Het
Nsmaf A G 4: 6,398,880 (GRCm39) L795P probably damaging Het
Nup210 T C 6: 91,005,787 (GRCm39) T616A possibly damaging Het
Or10d5 C A 9: 39,861,465 (GRCm39) V201L possibly damaging Het
Or1j18 T A 2: 36,625,204 (GRCm39) Y290* probably null Het
Or5ak25 T A 2: 85,269,220 (GRCm39) Y94F probably benign Het
Or5b113 A C 19: 13,342,234 (GRCm39) M81L probably benign Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp2 G A 14: 51,058,313 (GRCm39) R486Q probably benign Het
Pcgf6 G A 19: 47,028,544 (GRCm39) A286V probably damaging Het
Pla2r1 T C 2: 60,258,990 (GRCm39) T1133A probably damaging Het
Plekha2 T C 8: 25,562,070 (GRCm39) N48S probably damaging Het
Pole T G 5: 110,445,235 (GRCm39) S461A probably damaging Het
Ppfibp2 T C 7: 107,329,099 (GRCm39) L536P probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rab23 A T 1: 33,773,935 (GRCm39) K132* probably null Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Sptb A G 12: 76,667,943 (GRCm39) V718A probably benign Het
Susd4 A G 1: 182,686,128 (GRCm39) H226R probably benign Het
Tmem151b T C 17: 45,856,831 (GRCm39) Y203C probably damaging Het
Tmppe T C 9: 114,233,968 (GRCm39) V89A possibly damaging Het
Trappc6b A T 12: 59,094,907 (GRCm39) probably null Het
Ube4b A T 4: 149,445,751 (GRCm39) M433K probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Vmn1r43 T C 6: 89,846,683 (GRCm39) I268V probably benign Het
Vmn1r49 T A 6: 90,049,764 (GRCm39) R79S probably benign Het
Vmn2r14 T A 5: 109,366,913 (GRCm39) K436* probably null Het
Wdr72 A G 9: 74,117,444 (GRCm39) S719G probably damaging Het
Zfp526 T C 7: 24,924,967 (GRCm39) F409L probably benign Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zfp977 T C 7: 42,230,070 (GRCm39) T152A probably benign Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTCACACGGCCTTCGGTGATGAC -3'
(R):5'- GTGTACAGAGCGGGCTTTCCATTC -3'

Sequencing Primer
(F):5'- GTGATGACTTCCTGCACAGC -3'
(R):5'- AGAAGCCTACAGTCTTGGTTC -3'
Posted On 2014-05-09