Incidental Mutation 'R5973:Prkci'
ID 471519
Institutional Source Beutler Lab
Gene Symbol Prkci
Ensembl Gene ENSMUSG00000037643
Gene Name protein kinase C, iota
Synonyms Pkcl, 2310021H13Rik, PKClambda, Pkci, aPKClambda, Prkcl
MMRRC Submission 044156-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5973 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 31049893-31106889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31092605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 296 (D296Y)
Ref Sequence ENSEMBL: ENSMUSP00000103884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108249] [ENSMUST00000130238] [ENSMUST00000136086]
AlphaFold Q62074
PDB Structure Structure of PKC in Complex with a Substrate Peptide from Par-3 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000108249
AA Change: D296Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103884
Gene: ENSMUSG00000037643
AA Change: D296Y

DomainStartEndE-ValueType
PB1 25 106 7.62e-26 SMART
C1 141 190 3.7e-14 SMART
S_TKc 253 521 4.29e-96 SMART
S_TK_X 522 585 3.6e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123971
Predicted Effect probably benign
Transcript: ENSMUST00000130238
SMART Domains Protein: ENSMUSP00000123671
Gene: ENSMUSG00000037643

DomainStartEndE-ValueType
PB1 1 70 6.16e-12 SMART
C1 105 154 3.7e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130706
Predicted Effect probably damaging
Transcript: ENSMUST00000136086
AA Change: D3Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119192
Gene: ENSMUSG00000037643
AA Change: D3Y

DomainStartEndE-ValueType
Pfam:Pkinase 2 118 2.4e-32 PFAM
Pfam:Pkinase_Tyr 2 118 1.1e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184398
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality. Muscle-specific deletion of this gene impairs glucose transport and induces metabolic and diabetic syndromes. Podocyte-specific deletion leads to altered podocyte architecture, proteinuria, and accelerated renal failure. [provided by MGI curators]
Allele List at MGI

 All alleles(111) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(107)
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,364,928 (GRCm39) I1536N probably damaging Het
Actr1b A G 1: 36,741,162 (GRCm39) S140P probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Anapc7 A T 5: 122,566,366 (GRCm39) T92S probably benign Het
Ash2l G A 8: 26,307,642 (GRCm39) T585M possibly damaging Het
Asxl1 T C 2: 153,243,931 (GRCm39) F1495L probably damaging Het
Atp5pf T C 16: 84,625,328 (GRCm39) probably null Het
Bcl2a1c A G 9: 114,159,465 (GRCm39) N81S probably benign Het
Bfsp2 A C 9: 103,309,856 (GRCm39) probably null Het
Casq1 A G 1: 172,047,068 (GRCm39) Y64H probably damaging Het
Ceacam16 A G 7: 19,590,262 (GRCm39) V227A probably damaging Het
Cers6 T A 2: 68,898,969 (GRCm39) probably null Het
Chrnb1 A G 11: 69,686,671 (GRCm39) probably benign Het
Clpb G A 7: 101,313,204 (GRCm39) V63I probably benign Het
Dnah11 G T 12: 118,074,687 (GRCm39) D1388E probably benign Het
Dst T C 1: 34,195,938 (GRCm39) L405P probably damaging Het
Dstyk A G 1: 132,362,149 (GRCm39) E193G probably damaging Het
Dusp2 A T 2: 127,179,208 (GRCm39) S188C probably damaging Het
Ep400 T C 5: 110,877,697 (GRCm39) I810V unknown Het
Faim2 C T 15: 99,419,132 (GRCm39) G79D probably benign Het
Fpgt A T 3: 154,793,040 (GRCm39) I329K probably damaging Het
Fut8 A G 12: 77,411,771 (GRCm39) T78A probably benign Het
Gm15130 A G 2: 110,965,714 (GRCm39) probably benign Het
Gm17087 A C 17: 8,785,529 (GRCm39) I58R probably benign Het
Grk2 T C 19: 4,337,925 (GRCm39) D485G possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hmcn1 A G 1: 150,439,568 (GRCm39) S5539P probably damaging Het
Hmcn2 G A 2: 31,310,335 (GRCm39) V3310M probably damaging Het
Impdh1 A T 6: 29,207,161 (GRCm39) L61Q probably damaging Het
Inhbb A T 1: 119,345,806 (GRCm39) V161D possibly damaging Het
Kansl2 C T 15: 98,427,306 (GRCm39) V192M probably damaging Het
Krt1c T C 15: 101,724,747 (GRCm39) K288E probably damaging Het
Lyar A G 5: 38,385,290 (GRCm39) K110R probably damaging Het
Lyrm9 C A 11: 78,726,961 (GRCm39) H35N probably damaging Het
Mab21l1 A G 3: 55,690,533 (GRCm39) D40G probably benign Het
Maml2 A C 9: 13,532,915 (GRCm39) probably benign Het
Mbd5 A G 2: 49,162,401 (GRCm39) H69R probably benign Het
Morc2b G T 17: 33,356,446 (GRCm39) A442E probably damaging Het
Moxd2 A T 6: 40,855,744 (GRCm39) L615Q probably damaging Het
Msh2 G A 17: 88,016,011 (GRCm39) G548S probably damaging Het
Napg G A 18: 63,128,054 (GRCm39) S279N possibly damaging Het
Ncor1 A T 11: 62,240,136 (GRCm39) probably null Het
Nkiras2 G T 11: 100,516,866 (GRCm39) R128L probably damaging Het
Npy4r T C 14: 33,868,664 (GRCm39) D208G probably benign Het
Or10ak11 C T 4: 118,687,413 (GRCm39) V75I probably benign Het
Or52e2 A G 7: 102,804,081 (GRCm39) V291A possibly damaging Het
Or8b42 G T 9: 38,341,627 (GRCm39) L16F probably damaging Het
Pcdhgb2 A G 18: 37,823,560 (GRCm39) T184A probably benign Het
Plxna4 T C 6: 32,228,000 (GRCm39) probably null Het
Pnldc1 C T 17: 13,113,260 (GRCm39) E328K probably benign Het
Pon1 T A 6: 5,185,334 (GRCm39) L55F probably damaging Het
Pramel51 T C 12: 88,142,683 (GRCm39) I312V probably benign Het
Prkd1 T C 12: 50,435,038 (GRCm39) H563R probably damaging Het
Ptpru T C 4: 131,546,236 (GRCm39) N266S probably benign Het
Rapgef6 A T 11: 54,530,609 (GRCm39) I589F probably damaging Het
Rcan3 A T 4: 135,145,853 (GRCm39) S127T probably benign Het
Sh3tc2 A G 18: 62,110,975 (GRCm39) D277G probably benign Het
Sipa1l3 G A 7: 29,098,949 (GRCm39) A440V probably benign Het
Slc13a2 A C 11: 78,291,358 (GRCm39) I372S probably damaging Het
Slco1a7 T A 6: 141,700,182 (GRCm39) T117S probably benign Het
Spns1 A T 7: 125,969,495 (GRCm39) I528N probably damaging Het
Sult6b2 T C 6: 142,736,021 (GRCm39) K191R probably benign Het
Swt1 A G 1: 151,278,700 (GRCm39) probably null Het
Tcn2 A T 11: 3,877,546 (GRCm39) L34* probably null Het
Tmem131l C T 3: 83,829,553 (GRCm39) A1035T possibly damaging Het
Trpc4 A G 3: 54,223,263 (GRCm39) E733G probably damaging Het
Uap1l1 A T 2: 25,254,642 (GRCm39) H184Q possibly damaging Het
Vil1 T G 1: 74,455,192 (GRCm39) V48G possibly damaging Het
Vps39 A T 2: 120,159,186 (GRCm39) H367Q probably damaging Het
Wars2 A G 3: 99,094,962 (GRCm39) T86A probably benign Het
Wdr90 A G 17: 26,064,107 (GRCm39) S1872P probably damaging Het
Wdr90 A G 17: 26,065,381 (GRCm39) L1625P probably damaging Het
Xaf1 A T 11: 72,194,256 (GRCm39) M46L probably damaging Het
Zfp1005 A G 2: 150,109,855 (GRCm39) T182A unknown Het
Other mutations in Prkci
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00798:Prkci APN 3 31,088,648 (GRCm39) missense probably benign 0.13
IGL01472:Prkci APN 3 31,104,341 (GRCm39) missense probably damaging 0.99
3-1:Prkci UTSW 3 31,093,219 (GRCm39) missense probably damaging 0.97
R0584:Prkci UTSW 3 31,079,289 (GRCm39) nonsense probably null
R0699:Prkci UTSW 3 31,104,422 (GRCm39) missense possibly damaging 0.94
R1077:Prkci UTSW 3 31,104,341 (GRCm39) missense probably damaging 0.99
R1483:Prkci UTSW 3 31,097,941 (GRCm39) missense probably damaging 1.00
R1815:Prkci UTSW 3 31,092,644 (GRCm39) missense probably damaging 1.00
R2325:Prkci UTSW 3 31,085,217 (GRCm39) splice site probably null
R4997:Prkci UTSW 3 31,085,375 (GRCm39) critical splice donor site probably null
R7777:Prkci UTSW 3 31,104,362 (GRCm39) missense possibly damaging 0.91
R8499:Prkci UTSW 3 31,079,366 (GRCm39) missense probably damaging 0.99
R8923:Prkci UTSW 3 31,095,250 (GRCm39) nonsense probably null
R9126:Prkci UTSW 3 31,072,793 (GRCm39) missense probably damaging 0.99
R9310:Prkci UTSW 3 31,083,664 (GRCm39) missense probably damaging 1.00
R9325:Prkci UTSW 3 31,085,333 (GRCm39) missense probably damaging 1.00
R9413:Prkci UTSW 3 31,097,915 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGGAAGTATCATTTGAGCTTTCC -3'
(R):5'- CCTCCTACTTCAAGAATTATGGGAAAC -3'

Sequencing Primer
(F):5'- ACTGGATATTTGTCAATGGTATTCTC -3'
(R):5'- CTTCAAGAATTATGGGAAACAGAGTC -3'
Posted On 2017-03-31