Incidental Mutation 'R1815:Prkci'
ID 202607
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 039843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1815 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 31049893-31106889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31092644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 309 (S309P)
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: S309P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103884
Gene: ENSMUSG00000037643
AA Change: S309P

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 possibly damaging
Transcript: ENSMUST00000136086
AA Change: S16P

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119192
Gene: ENSMUSG00000037643
AA Change: S16P

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: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 90.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,083,905 (GRCm39) T492A probably damaging Het
Afg3l2 A T 18: 67,548,643 (GRCm39) L529* probably null Het
Ak9 A G 10: 41,213,572 (GRCm39) E259G probably damaging Het
Apol11b T A 15: 77,519,772 (GRCm39) I103F probably damaging Het
Atp7b T C 8: 22,501,667 (GRCm39) M864V possibly damaging Het
Atp8a2 A G 14: 60,324,073 (GRCm39) L60P probably damaging Het
Begain T C 12: 109,000,033 (GRCm39) Y451C probably damaging Het
Bmpr1b A T 3: 141,586,124 (GRCm39) I46N probably benign Het
Bms1 T A 6: 118,360,742 (GRCm39) K1242M probably damaging Het
Calcoco1 A G 15: 102,622,358 (GRCm39) L254P probably damaging Het
Ccdc112 A T 18: 46,424,173 (GRCm39) N188K possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdkal1 A G 13: 29,901,774 (GRCm39) V132A possibly damaging Het
Cdo1 A G 18: 46,853,369 (GRCm39) C130R probably damaging Het
Cep295nl G T 11: 118,223,474 (GRCm39) R457S probably damaging Het
Cntn1 A T 15: 92,148,829 (GRCm39) I359F probably benign Het
Csnk1g1 T C 9: 65,939,606 (GRCm39) V435A probably damaging Het
Csnka2ip A G 16: 64,298,855 (GRCm39) V59A probably benign Het
Ddr2 A T 1: 169,823,170 (GRCm39) Y371* probably null Het
Dicer1 T C 12: 104,688,410 (GRCm39) E389G probably damaging Het
Dnah2 T C 11: 69,366,400 (GRCm39) I1901V probably damaging Het
Fanci T A 7: 79,088,056 (GRCm39) I903N probably damaging Het
Fastk T C 5: 24,646,529 (GRCm39) Q471R probably damaging Het
Flvcr1 A T 1: 190,757,577 (GRCm39) N238K probably damaging Het
Gsdmc3 A T 15: 63,740,965 (GRCm39) L61H probably damaging Het
H2-M10.5 T A 17: 37,084,836 (GRCm39) C187S probably damaging Het
Hmcn2 T C 2: 31,283,055 (GRCm39) I1977T probably damaging Het
Itpr2 T A 6: 146,260,914 (GRCm39) I905F probably benign Het
Jmy C T 13: 93,590,585 (GRCm39) G506D probably damaging Het
Klf4 G T 4: 55,530,977 (GRCm39) R45S probably benign Het
Klhdc7b A G 15: 89,271,800 (GRCm39) E894G probably damaging Het
Klra7 T C 6: 130,201,070 (GRCm39) I229V probably benign Het
Krt35 T C 11: 99,986,565 (GRCm39) T150A probably benign Het
Krtap20-1 T C 16: 88,812,337 (GRCm39) probably benign Het
Lct T C 1: 128,227,896 (GRCm39) Y1199C probably damaging Het
Lmbrd1 T A 1: 24,724,642 (GRCm39) N75K possibly damaging Het
Lss T C 10: 76,388,798 (GRCm39) S700P probably damaging Het
Ltbp1 A T 17: 75,559,375 (GRCm39) Q288L probably benign Het
Mical2 A G 7: 112,012,109 (GRCm39) E653G probably damaging Het
Mphosph10 G T 7: 64,041,918 (GRCm39) Q9K probably benign Het
Muc15 T A 2: 110,561,603 (GRCm39) L13Q probably damaging Het
Ncf4 A G 15: 78,134,602 (GRCm39) D18G probably benign Het
Nipsnap1 A G 11: 4,839,101 (GRCm39) Y127C probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt12 G A 17: 59,317,131 (GRCm39) P172L probably damaging Het
Or8g18 T C 9: 39,149,286 (GRCm39) I145V probably benign Het
Otud4 T A 8: 80,366,618 (GRCm39) Y28* probably null Het
Pdcd2l G A 7: 33,885,826 (GRCm39) T286I probably benign Het
Pgbd1 A G 13: 21,607,342 (GRCm39) V284A probably damaging Het
Phlpp2 C A 8: 110,666,855 (GRCm39) T1128K probably damaging Het
Pik3cb A G 9: 98,975,148 (GRCm39) V244A possibly damaging Het
Pld1 A G 3: 28,163,917 (GRCm39) I783M probably benign Het
Plk5 T C 10: 80,199,855 (GRCm39) V454A probably benign Het
Prx A T 7: 27,216,090 (GRCm39) D197V probably damaging Het
Ptpn5 A G 7: 46,728,589 (GRCm39) L537P probably benign Het
Rev3l T A 10: 39,698,867 (GRCm39) N1121K probably benign Het
Rock2 T A 12: 17,022,727 (GRCm39) D1055E probably benign Het
Rrp1b T C 17: 32,275,785 (GRCm39) V444A probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsf1 CG CGACGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rsf1 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
S1pr2 G A 9: 20,879,388 (GRCm39) R147* probably null Het
Serpinb9b A T 13: 33,223,887 (GRCm39) I360F probably damaging Het
Smc6 T C 12: 11,344,602 (GRCm39) probably null Het
Srsf11 C T 3: 157,722,064 (GRCm39) probably benign Het
Sstr1 T C 12: 58,260,264 (GRCm39) F296L possibly damaging Het
Tecrl T A 5: 83,427,081 (GRCm39) I356L probably benign Het
Tln2 A G 9: 67,136,705 (GRCm39) I2348T probably damaging Het
Tmed11 T A 5: 108,925,291 (GRCm39) I174L probably benign Het
Tmem132a G A 19: 10,838,931 (GRCm39) Q504* probably null Het
Unc5c A T 3: 141,463,518 (GRCm39) D213V probably damaging Het
Utp25 A C 1: 192,800,591 (GRCm39) S410A probably benign Het
Vgll4 T C 6: 114,841,020 (GRCm39) D92G probably benign Het
Vps37a T C 8: 40,965,162 (GRCm39) F5L probably benign Het
Zdhhc20 A T 14: 58,127,600 (GRCm39) V13E probably benign Het
Zeb1 G A 18: 5,767,898 (GRCm39) C803Y probably damaging Het
Zmym1 T C 4: 126,942,814 (GRCm39) T427A possibly damaging 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
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
R5973:Prkci UTSW 3 31,092,605 (GRCm39) missense probably damaging 1.00
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'- AGGGAAGTATCATTTGAGCTTTCC -3'
(R):5'- ACTGCTGCTTCTGAAGAGCC -3'

Sequencing Primer
(F):5'- ACTGGATATTTGTCAATGGTATTCTC -3'
(R):5'- AATTGGTATCACTGATTGTAGCAGG -3'
Posted On 2014-06-23