Incidental Mutation 'R4541:Prkcq'
ID |
333519 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkcq
|
Ensembl Gene |
ENSMUSG00000026778 |
Gene Name |
protein kinase C, theta |
Synonyms |
A130035A12Rik, PKC-theta, PKC theta, PKC-0, Pkcq, PKCtheta |
MMRRC Submission |
041777-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4541 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
11176922-11306033 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 11288623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 525
(M525I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028118]
[ENSMUST00000102970]
|
AlphaFold |
Q02111 |
PDB Structure |
Identification of the Activator Binding Residues in the Second Cysteine-Rich Regulatory Domain of Protein Kinase C Theta [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028118
AA Change: M525I
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000028118 Gene: ENSMUSG00000026778 AA Change: M525I
Domain | Start | End | E-Value | Type |
PDB:2ENJ|A
|
3 |
126 |
6e-83 |
PDB |
C1
|
160 |
209 |
3.27e-15 |
SMART |
C1
|
232 |
281 |
2.22e-17 |
SMART |
S_TKc
|
380 |
634 |
1.17e-97 |
SMART |
S_TK_X
|
635 |
698 |
2.6e-26 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102970
AA Change: M525I
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000100035 Gene: ENSMUSG00000026778 AA Change: M525I
Domain | Start | End | E-Value | Type |
PDB:2ENJ|A
|
3 |
126 |
2e-84 |
PDB |
C1
|
160 |
209 |
3.27e-15 |
SMART |
C1
|
232 |
281 |
2.22e-17 |
SMART |
Pfam:Pkinase_Tyr
|
380 |
558 |
2.8e-27 |
PFAM |
Pfam:Pkinase
|
380 |
560 |
2.2e-47 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195628
|
Meta Mutation Damage Score |
0.2774 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
96% (51/53) |
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. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced T cell proliferative responses and interleukin 2 production and a lack of T cell receptor-initiated NF-kappaB activation in mature T lymphocytes. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted, knock-out(2) Targeted, other(1) |
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
C |
T |
11: 58,769,676 (GRCm39) |
P73S |
probably benign |
Het |
4930533L02Rik |
G |
A |
7: 124,917,750 (GRCm39) |
|
noncoding transcript |
Het |
Acot4 |
A |
T |
12: 84,090,022 (GRCm39) |
I240F |
probably benign |
Het |
B4galt6 |
A |
G |
18: 20,878,496 (GRCm39) |
V10A |
probably benign |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Ccnb3 |
T |
C |
X: 6,875,308 (GRCm39) |
T424A |
probably benign |
Het |
Cd8a |
A |
T |
6: 71,350,856 (GRCm39) |
D107V |
probably benign |
Het |
Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
Ceacam12 |
G |
A |
7: 17,805,648 (GRCm39) |
M278I |
probably benign |
Het |
Cfap43 |
C |
T |
19: 47,736,454 (GRCm39) |
V1346I |
probably benign |
Het |
Clic5 |
C |
T |
17: 44,552,956 (GRCm39) |
T70M |
probably damaging |
Het |
Dbpht2 |
A |
T |
12: 74,345,934 (GRCm39) |
|
noncoding transcript |
Het |
Ddhd1 |
G |
A |
14: 45,860,313 (GRCm39) |
R140* |
probably null |
Het |
Evpl |
T |
G |
11: 116,123,470 (GRCm39) |
I301L |
probably benign |
Het |
Glul |
T |
A |
1: 153,778,782 (GRCm39) |
Y30* |
probably null |
Het |
Itgad |
A |
T |
7: 127,797,287 (GRCm39) |
H878L |
probably benign |
Het |
Kcnk10 |
A |
G |
12: 98,402,536 (GRCm39) |
I301T |
probably damaging |
Het |
Klhl14 |
A |
T |
18: 21,687,696 (GRCm39) |
Y575* |
probably null |
Het |
Mrps2 |
G |
T |
2: 28,358,412 (GRCm39) |
|
probably benign |
Het |
Mymx |
GCC |
GC |
17: 45,912,519 (GRCm39) |
|
probably null |
Het |
Napb |
G |
A |
2: 148,551,229 (GRCm39) |
|
probably benign |
Het |
Nlrp1c-ps |
A |
G |
11: 71,171,706 (GRCm39) |
|
noncoding transcript |
Het |
Or10g9b |
A |
C |
9: 39,917,589 (GRCm39) |
S219A |
possibly damaging |
Het |
Or4f15 |
A |
G |
2: 111,813,981 (GRCm39) |
I146T |
probably benign |
Het |
Piwil4 |
C |
A |
9: 14,629,612 (GRCm39) |
M438I |
probably damaging |
Het |
Pla2r1 |
C |
T |
2: 60,258,082 (GRCm39) |
D1199N |
probably damaging |
Het |
Pmpca |
T |
G |
2: 26,280,201 (GRCm39) |
|
probably benign |
Het |
Rnf225 |
T |
C |
7: 12,662,520 (GRCm39) |
|
probably null |
Het |
Sco1 |
G |
T |
11: 66,943,668 (GRCm39) |
A50S |
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,046,037 (GRCm39) |
|
probably null |
Het |
Slc36a1 |
T |
C |
11: 55,112,849 (GRCm39) |
V148A |
probably benign |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Tbc1d10c |
G |
T |
19: 4,239,473 (GRCm39) |
R96S |
probably damaging |
Het |
Tbc1d2b |
A |
T |
9: 90,087,222 (GRCm39) |
I919N |
probably damaging |
Het |
Tcea1 |
T |
C |
1: 4,963,659 (GRCm39) |
L233P |
probably damaging |
Het |
Tlcd4 |
A |
G |
3: 121,028,884 (GRCm39) |
M1T |
probably null |
Het |
Tmem231 |
T |
C |
8: 112,641,224 (GRCm39) |
T223A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tomm34 |
A |
G |
2: 163,896,719 (GRCm39) |
Y243H |
probably benign |
Het |
Tubgcp4 |
A |
T |
2: 121,025,907 (GRCm39) |
N584I |
probably benign |
Het |
Vldlr |
T |
C |
19: 27,216,192 (GRCm39) |
C7R |
probably damaging |
Het |
Vmn1r42 |
A |
T |
6: 89,822,533 (GRCm39) |
M12K |
probably benign |
Het |
Vsig10 |
C |
T |
5: 117,490,881 (GRCm39) |
|
probably benign |
Het |
Zfp974 |
C |
G |
7: 27,625,829 (GRCm39) |
V14L |
probably damaging |
Het |
|
Other mutations in Prkcq |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01654:Prkcq
|
APN |
2 |
11,288,654 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01656:Prkcq
|
APN |
2 |
11,231,766 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01732:Prkcq
|
APN |
2 |
11,265,644 (GRCm39) |
splice site |
probably benign |
|
IGL02136:Prkcq
|
APN |
2 |
11,265,479 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02161:Prkcq
|
APN |
2 |
11,281,887 (GRCm39) |
missense |
probably benign |
|
IGL02178:Prkcq
|
APN |
2 |
11,281,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03107:Prkcq
|
APN |
2 |
11,265,597 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Prkcq
|
APN |
2 |
11,237,356 (GRCm39) |
missense |
probably benign |
0.11 |
banks
|
UTSW |
2 |
11,304,221 (GRCm39) |
missense |
probably damaging |
1.00 |
celina
|
UTSW |
2 |
11,288,660 (GRCm39) |
missense |
possibly damaging |
0.82 |
celina2
|
UTSW |
2 |
11,231,797 (GRCm39) |
critical splice donor site |
probably null |
|
Megabytes
|
UTSW |
2 |
11,295,262 (GRCm39) |
nonsense |
probably null |
|
Monmouth
|
UTSW |
2 |
11,284,335 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Prkcq
|
UTSW |
2 |
11,304,905 (GRCm39) |
missense |
probably damaging |
1.00 |
K3955:Prkcq
|
UTSW |
2 |
11,251,604 (GRCm39) |
splice site |
probably benign |
|
R0049:Prkcq
|
UTSW |
2 |
11,288,643 (GRCm39) |
missense |
probably benign |
0.04 |
R0049:Prkcq
|
UTSW |
2 |
11,288,643 (GRCm39) |
missense |
probably benign |
0.04 |
R0183:Prkcq
|
UTSW |
2 |
11,257,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R0366:Prkcq
|
UTSW |
2 |
11,251,649 (GRCm39) |
splice site |
probably benign |
|
R0388:Prkcq
|
UTSW |
2 |
11,259,045 (GRCm39) |
missense |
probably benign |
|
R1385:Prkcq
|
UTSW |
2 |
11,261,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Prkcq
|
UTSW |
2 |
11,295,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R1693:Prkcq
|
UTSW |
2 |
11,259,010 (GRCm39) |
missense |
probably damaging |
0.99 |
R1760:Prkcq
|
UTSW |
2 |
11,304,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R1764:Prkcq
|
UTSW |
2 |
11,237,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Prkcq
|
UTSW |
2 |
11,250,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Prkcq
|
UTSW |
2 |
11,284,332 (GRCm39) |
missense |
probably benign |
|
R2108:Prkcq
|
UTSW |
2 |
11,237,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R2762:Prkcq
|
UTSW |
2 |
11,237,451 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3402:Prkcq
|
UTSW |
2 |
11,288,660 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3429:Prkcq
|
UTSW |
2 |
11,251,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R3545:Prkcq
|
UTSW |
2 |
11,288,627 (GRCm39) |
missense |
probably benign |
0.11 |
R3547:Prkcq
|
UTSW |
2 |
11,288,627 (GRCm39) |
missense |
probably benign |
0.11 |
R3893:Prkcq
|
UTSW |
2 |
11,231,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R4086:Prkcq
|
UTSW |
2 |
11,288,679 (GRCm39) |
missense |
probably damaging |
0.97 |
R4423:Prkcq
|
UTSW |
2 |
11,260,980 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4649:Prkcq
|
UTSW |
2 |
11,284,333 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4652:Prkcq
|
UTSW |
2 |
11,284,333 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4820:Prkcq
|
UTSW |
2 |
11,231,797 (GRCm39) |
critical splice donor site |
probably null |
|
R5197:Prkcq
|
UTSW |
2 |
11,304,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:Prkcq
|
UTSW |
2 |
11,261,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R7030:Prkcq
|
UTSW |
2 |
11,231,661 (GRCm39) |
splice site |
probably null |
|
R7231:Prkcq
|
UTSW |
2 |
11,295,262 (GRCm39) |
nonsense |
probably null |
|
R7461:Prkcq
|
UTSW |
2 |
11,304,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R7613:Prkcq
|
UTSW |
2 |
11,304,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R8441:Prkcq
|
UTSW |
2 |
11,253,037 (GRCm39) |
missense |
probably benign |
0.11 |
R8491:Prkcq
|
UTSW |
2 |
11,284,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R8724:Prkcq
|
UTSW |
2 |
11,304,784 (GRCm39) |
missense |
probably benign |
0.17 |
R9031:Prkcq
|
UTSW |
2 |
11,251,819 (GRCm39) |
missense |
probably damaging |
0.99 |
R9164:Prkcq
|
UTSW |
2 |
11,231,716 (GRCm39) |
missense |
probably damaging |
0.96 |
R9621:Prkcq
|
UTSW |
2 |
11,261,014 (GRCm39) |
missense |
probably benign |
0.00 |
R9661:Prkcq
|
UTSW |
2 |
11,250,141 (GRCm39) |
nonsense |
probably null |
|
Z1177:Prkcq
|
UTSW |
2 |
11,304,192 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGAACAGCCATTCGTGGTCAG -3'
(R):5'- CCCATTTGTGTGTCTGCAAC -3'
Sequencing Primer
(F):5'- ATTCGTGGTCAGCCCTCTG -3'
(R):5'- GTGTGTCTGCAACTGGAAAATACTCC -3'
|
Posted On |
2015-08-18 |