Incidental Mutation 'R9413:Prkci'
ID 711891
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9413 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 31049893-31106889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31097915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 455 (V455A)
Ref Sequence ENSEMBL: ENSMUSP00000103884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108249] [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: V455A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103884
Gene: ENSMUSG00000037643
AA Change: V455A

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 probably benign
Transcript: ENSMUST00000136086
SMART Domains Protein: ENSMUSP00000119192
Gene: ENSMUSG00000037643

DomainStartEndE-ValueType
Pfam:Pkinase 2 118 2.4e-32 PFAM
Pfam:Pkinase_Tyr 2 118 1.1e-20 PFAM
Meta Mutation Damage Score 0.0848 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (35/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,422 (GRCm39) T1194S probably benign Het
Akr7a5 A T 4: 139,038,059 (GRCm39) probably benign Het
Ap3b2 G T 7: 81,127,757 (GRCm39) P140T possibly damaging Het
Ap3s1 T C 18: 46,887,531 (GRCm39) probably null Het
Arrdc2 C T 8: 71,288,892 (GRCm39) R381H probably damaging Het
Atg13 T C 2: 91,511,970 (GRCm39) D286G probably benign Het
C1qtnf4 T C 2: 90,720,648 (GRCm39) F307S probably damaging Het
Cdk5rap1 A T 2: 154,207,880 (GRCm39) probably null Het
Chsy3 C T 18: 59,309,170 (GRCm39) A141V possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
D5Ertd579e A G 5: 36,772,278 (GRCm39) S706P probably damaging Het
Ell2 A G 13: 75,917,705 (GRCm39) D545G Het
Ephb6 T C 6: 41,591,509 (GRCm39) L222P Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Gm6619 A T 6: 131,468,370 (GRCm39) D167V unknown Het
Gucy2c T C 6: 136,700,771 (GRCm39) D581G possibly damaging Het
Hectd1 G A 12: 51,792,880 (GRCm39) R2471* probably null Het
Kif1a A T 1: 92,949,019 (GRCm39) M1501K probably benign Het
Mycbpap A G 11: 94,392,321 (GRCm39) V390A probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pex3 A G 10: 13,410,454 (GRCm39) Y236H probably damaging Het
Pglyrp3 G T 3: 91,930,106 (GRCm39) A91S probably damaging Het
Ppp1ca T C 19: 4,244,897 (GRCm39) S292P probably damaging Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Psd4 C T 2: 24,287,472 (GRCm39) T468I probably benign Het
Rnf213 A G 11: 119,357,059 (GRCm39) E4203G Het
Snrnp27 T C 6: 86,653,255 (GRCm39) D121G possibly damaging Het
Spag6 A T 2: 18,739,029 (GRCm39) M320L probably benign Het
Spata16 T A 3: 26,978,486 (GRCm39) M484K possibly damaging Het
Trim69 G A 2: 122,009,083 (GRCm39) W381* probably null Het
Tubgcp3 A C 8: 12,674,885 (GRCm39) I745S probably damaging Het
Ubxn2b A G 4: 6,204,607 (GRCm39) D156G probably damaging Het
Vmn2r103 A G 17: 20,032,158 (GRCm39) N644S 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGGTTGCTTGGACCAAGTATC -3'
(R):5'- ACTATCATGAAGTCAGGTGTGTG -3'

Sequencing Primer
(F):5'- CAGAGGTCCTGAGTTCAGTTCC -3'
(R):5'- CAGGTGTGTGTCCAAATTACTC -3'
Posted On 2022-05-16