Incidental Mutation 'R1077:Prkci'
| ID |
85675 |
| 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 |
039163-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1077 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,130,770 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
A |
G |
12: 8,056,017 (GRCm39) |
K1500E |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,706,333 (GRCm39) |
Y225* |
probably null |
Het |
| Cdc25c |
A |
T |
18: 34,882,026 (GRCm39) |
|
probably benign |
Het |
| Ceacam15 |
T |
C |
7: 16,406,000 (GRCm39) |
N184D |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,914,716 (GRCm39) |
S508P |
probably damaging |
Het |
| Defa41 |
T |
A |
8: 21,692,449 (GRCm39) |
F90Y |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,952,293 (GRCm39) |
S111P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,248 (GRCm39) |
E759G |
probably damaging |
Het |
| Fis1 |
G |
A |
5: 136,994,000 (GRCm39) |
A28T |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,297,542 (GRCm39) |
|
probably null |
Het |
| Grk6 |
T |
C |
13: 55,602,340 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,794 (GRCm39) |
H228Q |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,643,164 (GRCm39) |
V368I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,116,891 (GRCm39) |
E728G |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,906,763 (GRCm39) |
M71L |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 157,866,780 (GRCm39) |
D987A |
probably damaging |
Het |
| Naalad2 |
C |
T |
9: 18,258,802 (GRCm39) |
R491Q |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,300,570 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,321,534 (GRCm39) |
L167S |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,085,000 (GRCm39) |
T32I |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,806,581 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,376,824 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,082,373 (GRCm39) |
V1433A |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,966,379 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sfta2 |
T |
C |
17: 35,961,019 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,062,433 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,626 (GRCm39) |
C314Y |
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,441,833 (GRCm39) |
V35A |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,925,786 (GRCm39) |
D1182G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,088,809 (GRCm39) |
I5056V |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,410,571 (GRCm39) |
|
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,777 (GRCm39) |
T229A |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,373 (GRCm39) |
C394* |
probably null |
Het |
| Ttk |
T |
A |
9: 83,726,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r26 |
G |
A |
6: 124,030,872 (GRCm39) |
V536I |
probably benign |
Het |
| Wac |
A |
G |
18: 7,921,916 (GRCm39) |
T553A |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,900,685 (GRCm39) |
H180Q |
probably damaging |
Het |
| Wdr33 |
A |
G |
18: 31,968,514 (GRCm39) |
H235R |
probably benign |
Het |
|
| Other mutations in Prkci |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- AACCCTCAGTCTGATTCTGGACCC -3'
(R):5'- CAACAGGATACCGAGAGCGACTTC -3'
Sequencing Primer
(F):5'- CTGGACCCTCTCGGTTATAAGG -3'
(R):5'- AGACACACTCTTCTGCAGAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation