Incidental Mutation 'R4018:Prkca'
| ID |
312029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkca
|
| Ensembl Gene |
ENSMUSG00000050965 |
| Gene Name |
protein kinase C, alpha |
| Synonyms |
Pkca |
| MMRRC Submission |
040848-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.744)
|
| Stock # |
R4018 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
107824213-108234754 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107830428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 221
(I221F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059595]
[ENSMUST00000100302]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059595
AA Change: I645F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: I645F
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
37 |
86 |
3.09e-16 |
SMART |
|
C1
|
102 |
151 |
1.33e-15 |
SMART |
|
C2
|
172 |
275 |
7.66e-26 |
SMART |
|
S_TKc
|
339 |
597 |
8.85e-98 |
SMART |
|
S_TK_X
|
598 |
660 |
1.58e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100302
AA Change: I221F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097875
Gene: ENSMUSG00000050965
AA Change: I221F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
2 |
173 |
9.3e-44 |
PFAM |
|
Pfam:Pkinase_Tyr
|
3 |
159 |
3.7e-25 |
PFAM |
|
S_TK_X
|
174 |
236 |
1.58e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.1705 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show no overt macroscopic abnormalities, however examination of one line revealed increased cardiac muscle contractility and protection against heart failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
A |
G |
8: 53,976,226 (GRCm39) |
K319R |
probably benign |
Het |
| Brip1 |
G |
T |
11: 86,029,677 (GRCm39) |
T619K |
possibly damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,330 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
G |
11: 101,932,420 (GRCm39) |
R2G |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,302,281 (GRCm39) |
V2616I |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,517 (GRCm39) |
I1160V |
probably benign |
Het |
| Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
| Endou |
T |
A |
15: 97,616,818 (GRCm39) |
K235M |
probably damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,995 (GRCm39) |
N309I |
probably damaging |
Het |
| Il4 |
T |
A |
11: 53,504,806 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,203,205 (GRCm39) |
S27* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 910,441 (GRCm39) |
|
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,274,128 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,738,438 (GRCm39) |
T284A |
probably benign |
Het |
| Maml1 |
A |
T |
11: 50,156,611 (GRCm39) |
N521K |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,526 (GRCm39) |
Y482H |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,011,881 (GRCm39) |
C633F |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,759,457 (GRCm39) |
D232G |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,189 (GRCm39) |
E168G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,885 (GRCm39) |
Y1717C |
unknown |
Het |
| Rab3c |
T |
A |
13: 110,220,728 (GRCm39) |
K144N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,933,300 (GRCm39) |
N57I |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,764,068 (GRCm39) |
T145A |
possibly damaging |
Het |
| Septin4 |
G |
A |
11: 87,475,947 (GRCm39) |
R162Q |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,850 (GRCm39) |
L127H |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,567,216 (GRCm39) |
V95A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,844,255 (GRCm39) |
I279V |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,893 (GRCm39) |
I314V |
probably benign |
Het |
|
| Other mutations in Prkca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Prkca
|
APN |
11 |
108,234,334 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00903:Prkca
|
APN |
11 |
107,874,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01385:Prkca
|
APN |
11 |
107,869,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01396:Prkca
|
APN |
11 |
107,905,148 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01480:Prkca
|
APN |
11 |
107,877,115 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01480:Prkca
|
APN |
11 |
108,083,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Prkca
|
APN |
11 |
107,852,428 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01553:Prkca
|
APN |
11 |
107,948,660 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02975:Prkca
|
APN |
11 |
108,231,503 (GRCm39) |
nonsense |
probably null |
|
|
IGL03402:Prkca
|
APN |
11 |
108,231,489 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0101:Prkca
|
UTSW |
11 |
107,948,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Prkca
|
UTSW |
11 |
107,944,937 (GRCm39) |
splice site |
probably benign |
|
|
R0454:Prkca
|
UTSW |
11 |
107,869,106 (GRCm39) |
missense |
probably benign |
|
|
R0513:Prkca
|
UTSW |
11 |
107,905,202 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0711:Prkca
|
UTSW |
11 |
107,872,480 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0894:Prkca
|
UTSW |
11 |
107,903,518 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0966:Prkca
|
UTSW |
11 |
107,905,110 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1432:Prkca
|
UTSW |
11 |
107,830,346 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1518:Prkca
|
UTSW |
11 |
107,869,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Prkca
|
UTSW |
11 |
107,874,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Prkca
|
UTSW |
11 |
107,903,518 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1909:Prkca
|
UTSW |
11 |
107,830,438 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1932:Prkca
|
UTSW |
11 |
108,082,975 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2509:Prkca
|
UTSW |
11 |
107,870,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Prkca
|
UTSW |
11 |
107,870,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Prkca
|
UTSW |
11 |
107,852,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5132:Prkca
|
UTSW |
11 |
108,082,943 (GRCm39) |
splice site |
probably benign |
|
|
R5298:Prkca
|
UTSW |
11 |
107,903,510 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5546:Prkca
|
UTSW |
11 |
107,944,806 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5558:Prkca
|
UTSW |
11 |
107,872,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Prkca
|
UTSW |
11 |
107,869,169 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5626:Prkca
|
UTSW |
11 |
107,948,641 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5931:Prkca
|
UTSW |
11 |
107,905,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6061:Prkca
|
UTSW |
11 |
107,948,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7125:Prkca
|
UTSW |
11 |
107,874,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7283:Prkca
|
UTSW |
11 |
108,231,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7329:Prkca
|
UTSW |
11 |
107,905,103 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7510:Prkca
|
UTSW |
11 |
107,874,820 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7670:Prkca
|
UTSW |
11 |
107,905,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7890:Prkca
|
UTSW |
11 |
107,903,510 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8769:Prkca
|
UTSW |
11 |
107,842,286 (GRCm39) |
splice site |
probably benign |
|
|
R9040:Prkca
|
UTSW |
11 |
107,905,186 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9096:Prkca
|
UTSW |
11 |
107,905,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9097:Prkca
|
UTSW |
11 |
107,905,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9176:Prkca
|
UTSW |
11 |
107,870,244 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9763:Prkca
|
UTSW |
11 |
107,903,867 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCTGTGTGGAACAAAATAC -3'
(R):5'- AATCCTCCAAGAGTCTTCCTGC -3'
Sequencing Primer
(F):5'- CTCTGTGTGGAACAAAATACAAGGCC -3'
(R):5'- AGCCAGGCCAATTTCCCTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation