Incidental Mutation 'R0584:Prkci'
ID 56547
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 038774-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0584 (G1)
Quality Score 213
Status Not validated
Chromosome 3
Chromosomal Location 31049893-31106889 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 31079289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 42 (C42*)
Ref Sequence ENSEMBL: ENSMUSP00000123671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108249] [ENSMUST00000130238]
AlphaFold Q62074
Predicted Effect probably null
Transcript: ENSMUST00000108249
AA Change: C78*
SMART Domains Protein: ENSMUSP00000103884
Gene: ENSMUSG00000037643
AA Change: C78*

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 null
Transcript: ENSMUST00000130238
AA Change: C42*
SMART Domains Protein: ENSMUSP00000123671
Gene: ENSMUSG00000037643
AA Change: C42*

DomainStartEndE-ValueType
PB1 1 70 6.16e-12 SMART
C1 105 154 3.7e-14 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 93.7%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,847,564 (GRCm39) S1745P probably damaging Het
Agfg2 G A 5: 137,665,992 (GRCm39) T89I probably damaging Het
Agtr1a A G 13: 30,565,017 (GRCm39) I27M probably damaging Het
Armh1 A T 4: 117,087,047 (GRCm39) L206Q probably damaging Het
Asxl2 A T 12: 3,546,632 (GRCm39) E472V probably damaging Het
Atp2c2 T A 8: 120,465,157 (GRCm39) V313E probably benign Het
Casp12 A G 9: 5,352,268 (GRCm39) I87V probably null Het
Ccl25 C T 8: 4,404,085 (GRCm39) probably benign Het
Col9a1 T C 1: 24,263,571 (GRCm39) probably benign Het
Cyth4 A G 15: 78,494,078 (GRCm39) probably null Het
Dnah9 A G 11: 65,881,315 (GRCm39) Y2587H probably damaging Het
Dppa3 T C 6: 122,606,951 (GRCm39) I147T probably benign Het
Fam120b T C 17: 15,622,384 (GRCm39) S121P probably damaging Het
Fam209 C T 2: 172,316,081 (GRCm39) T152M probably benign Het
Fam98a A G 17: 75,851,772 (GRCm39) L103P probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fitm1 T C 14: 55,814,113 (GRCm39) V203A probably benign Het
Gcn1 G A 5: 115,733,074 (GRCm39) R1037Q probably damaging Het
Gm11563 A G 11: 99,549,451 (GRCm39) I101T unknown Het
Gpd1l A G 9: 114,743,412 (GRCm39) F163L probably damaging Het
Grp C A 18: 66,006,766 (GRCm39) A30E possibly damaging Het
H1f7 C A 15: 98,154,958 (GRCm39) E64* probably null Het
Icosl T C 10: 77,907,709 (GRCm39) Y90H possibly damaging Het
Itsn2 A G 12: 4,747,180 (GRCm39) T1194A probably benign Het
Lrp6 A G 6: 134,433,039 (GRCm39) S1431P probably damaging Het
Ltbp1 T C 17: 75,670,467 (GRCm39) S1503P probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Myh13 G T 11: 67,251,200 (GRCm39) E1360* probably null Het
Nop58 A G 1: 59,745,919 (GRCm39) D400G probably benign Het
Or5p79 T C 7: 108,221,622 (GRCm39) L201P probably benign Het
Or6c205 T C 10: 129,086,817 (GRCm39) V138A probably benign Het
Oscp1 A G 4: 125,977,387 (GRCm39) probably null Het
Pde9a A T 17: 31,678,951 (GRCm39) Y264F probably damaging Het
Pkhd1 T A 1: 20,309,660 (GRCm39) K2763* probably null Het
Ptprr T C 10: 116,087,063 (GRCm39) V270A probably damaging Het
Rsf1 T A 7: 97,311,335 (GRCm39) N688K possibly damaging Het
S1pr3 A T 13: 51,573,697 (GRCm39) M293L probably benign Het
Scn10a A C 9: 119,499,597 (GRCm39) L232R probably damaging Het
Sirt5 T A 13: 43,548,204 (GRCm39) probably null Het
Sp6 C T 11: 96,913,091 (GRCm39) T268M probably damaging Het
Spag5 A G 11: 78,194,921 (GRCm39) N76S possibly damaging Het
Tecta T C 9: 42,259,204 (GRCm39) N1560D possibly damaging Het
Togaram1 T C 12: 65,014,279 (GRCm39) L510P probably damaging Het
Umps A G 16: 33,779,494 (GRCm39) I401T probably damaging Het
Vars2 A G 17: 35,977,578 (GRCm39) V118A 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
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
R9413:Prkci UTSW 3 31,097,915 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATGTGAGTGAGCCATGCCTGTCTG -3'
(R):5'- GCAATGGGAGACGGCACTTTAGTATC -3'

Sequencing Primer
(F):5'- cctctctccctccccttc -3'
(R):5'- CAGTTCTCCTAGACTATAGAGCG -3'
Posted On 2013-07-11