Incidental Mutation 'IGL01472:Prkci'
ID 88283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkci
Ensembl Gene ENSMUSG00000037643
Gene Name protein kinase C, iota
Synonyms Pkcl, 2310021H13Rik, PKClambda, Pkci, aPKClambda, Prkcl
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01472
Quality Score
Status
Chromosome 3
Chromosomal Location 31049893-31106889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31104341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 568 (D568G)
Ref Sequence ENSEMBL: ENSMUSP00000103884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108249]
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: D568G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103884
Gene: ENSMUSG00000037643
AA Change: D568G

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
Meta Mutation Damage Score 0.0616 question?
Coding Region Coverage
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 G A 7: 119,153,759 (GRCm39) probably null Het
Adamts4 T C 1: 171,080,419 (GRCm39) F324S probably damaging Het
Alg10b T A 15: 90,111,900 (GRCm39) L248Q possibly damaging Het
Antxr2 T A 5: 98,175,358 (GRCm39) T90S probably benign Het
Arhgap21 C T 2: 20,854,392 (GRCm39) E1657K probably damaging Het
Atp13a5 T G 16: 29,094,175 (GRCm39) D803A probably damaging Het
Bzw2 T C 12: 36,159,795 (GRCm39) D185G probably damaging Het
Camta2 A G 11: 70,574,950 (GRCm39) S62P probably damaging Het
Cep85 T C 4: 133,861,477 (GRCm39) Q599R possibly damaging Het
Chsy3 G A 18: 59,309,439 (GRCm39) V231I probably damaging Het
Cnbd2 C T 2: 156,217,268 (GRCm39) R457W probably damaging Het
Col20a1 A G 2: 180,649,625 (GRCm39) T1036A probably benign Het
Colgalt2 T C 1: 152,382,629 (GRCm39) Y494H probably damaging Het
Cox15 G T 19: 43,732,104 (GRCm39) Y237* probably null Het
Cpne9 C A 6: 113,269,983 (GRCm39) S281Y possibly damaging Het
D830013O20Rik G A 12: 73,411,090 (GRCm39) noncoding transcript Het
Dnah5 C T 15: 28,331,872 (GRCm39) R2153C probably damaging Het
Fam228a A G 12: 4,765,610 (GRCm39) I267T possibly damaging Het
Fat4 G A 3: 38,942,219 (GRCm39) A371T probably damaging Het
Gm1818 T C 12: 48,603,072 (GRCm39) noncoding transcript Het
Gm5592 T C 7: 40,935,498 (GRCm39) probably benign Het
Golga4 C A 9: 118,361,642 (GRCm39) L207I probably damaging Het
Gtf3c1 A G 7: 125,250,226 (GRCm39) probably benign Het
Hao1 C T 2: 134,396,150 (GRCm39) E35K probably benign Het
Iqch T C 9: 63,455,216 (GRCm39) I194V probably benign Het
Ism1 A T 2: 139,599,223 (GRCm39) T392S probably damaging Het
Lcmt1 A G 7: 123,027,376 (GRCm39) Y313C probably damaging Het
Loxl4 A G 19: 42,585,988 (GRCm39) C718R probably damaging Het
Lyar T G 5: 38,382,066 (GRCm39) I16R possibly damaging Het
Map3k20 T C 2: 72,185,897 (GRCm39) probably benign Het
Mtus1 T C 8: 41,455,449 (GRCm39) T941A probably benign Het
Myh8 A G 11: 67,179,205 (GRCm39) probably benign Het
Myof T C 19: 37,911,524 (GRCm39) D1482G probably benign Het
Nr4a3 C A 4: 48,071,133 (GRCm39) A534D probably damaging Het
Oas1c A G 5: 120,940,986 (GRCm39) V269A probably damaging Het
Odf2 T A 2: 29,783,071 (GRCm39) S5T probably damaging Het
Or5d36 T A 2: 87,901,322 (GRCm39) T135S possibly damaging Het
Or5p4 T C 7: 107,680,411 (GRCm39) S137P probably benign Het
Or9s27 T A 1: 92,516,694 (GRCm39) M214K possibly damaging Het
Pbk A G 14: 66,054,159 (GRCm39) T235A probably benign Het
Phrf1 T C 7: 140,836,403 (GRCm39) probably benign Het
Prom2 T A 2: 127,374,802 (GRCm39) Y578F probably benign Het
Prph T C 15: 98,956,474 (GRCm39) probably benign Het
Ryr3 A G 2: 112,502,593 (GRCm39) V3527A probably benign Het
Scn10a C T 9: 119,446,829 (GRCm39) V1400I probably damaging Het
Slc10a2 A G 8: 5,141,652 (GRCm39) L244P probably damaging Het
Tardbp A G 4: 148,706,521 (GRCm39) V96A probably benign Het
Tbc1d4 C A 14: 101,727,300 (GRCm39) E504* probably null Het
Tmed3 T C 9: 89,584,928 (GRCm39) E109G probably benign Het
Tnc C T 4: 63,924,656 (GRCm39) R1014H probably benign Het
Tpcn2 C T 7: 144,821,115 (GRCm39) R313Q probably damaging Het
Trim45 A G 3: 100,835,381 (GRCm39) T455A probably benign Het
Txlna A G 4: 129,525,908 (GRCm39) I313T probably damaging Het
Vmn1r202 A T 13: 22,686,159 (GRCm39) I86K possibly damaging Het
Vmn2r14 C A 5: 109,364,180 (GRCm39) E579* probably null Het
Wrn T A 8: 33,819,200 (GRCm39) I8F possibly damaging Het
Zc3h18 A G 8: 123,143,396 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,323,117 (GRCm39) H876Q probably benign Het
Znrf2 C T 6: 54,840,957 (GRCm39) T177I probably damaging Het
Other mutations in Prkci
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00798:Prkci APN 3 31,088,648 (GRCm39) missense probably benign 0.13
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
R9413:Prkci UTSW 3 31,097,915 (GRCm39) missense probably damaging 0.98
Posted On 2013-11-18