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)
|
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
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136086
|
SMART Domains |
Protein: ENSMUSP00000119192 Gene: ENSMUSG00000037643
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
2 |
118 |
2.4e-32 |
PFAM |
Pfam:Pkinase_Tyr
|
2 |
118 |
1.1e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.0848 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |