Incidental Mutation 'R8441:Prkcq'
| ID |
654192 |
| 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 |
067885-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8441 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11176922-11306033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11253037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 229
(D229G)
|
| 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 |
probably benign
Transcript: ENSMUST00000028118
AA Change: D229G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: D229G
| 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 |
probably benign
Transcript: ENSMUST00000102970
AA Change: D229G
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: D229G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,087,574 (GRCm39) |
Y1064H |
possibly damaging |
Het |
| Ahrr |
T |
C |
13: 74,362,182 (GRCm39) |
D567G |
probably benign |
Het |
| Aldh1b1 |
T |
A |
4: 45,802,465 (GRCm39) |
M1K |
probably null |
Het |
| Ankrd12 |
A |
T |
17: 66,349,546 (GRCm39) |
S96T |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 15,041,237 (GRCm39) |
|
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cmpk2 |
G |
A |
12: 26,527,204 (GRCm39) |
A398T |
probably benign |
Het |
| Cpn2 |
A |
G |
16: 30,078,849 (GRCm39) |
L284P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,432,658 (GRCm39) |
D1221G |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,572,398 (GRCm39) |
K957R |
probably damaging |
Het |
| Eif1ad2 |
T |
G |
12: 87,786,384 (GRCm39) |
D98E |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,896,488 (GRCm38) |
V893E |
probably benign |
Het |
| Flrt3 |
C |
A |
2: 140,502,546 (GRCm39) |
V361L |
probably benign |
Het |
| Fnta |
G |
A |
8: 26,501,209 (GRCm39) |
R104* |
probably null |
Het |
| Ggt1 |
C |
T |
10: 75,415,185 (GRCm39) |
T233I |
possibly damaging |
Het |
| Gpr37l1 |
A |
T |
1: 135,094,875 (GRCm39) |
V123E |
probably damaging |
Het |
| Grpel1 |
A |
G |
5: 36,622,556 (GRCm39) |
R7G |
probably benign |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,199 (GRCm39) |
I54L |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,139,474 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
T |
C |
1: 20,884,690 (GRCm39) |
D271G |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,422,265 (GRCm39) |
V1256A |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,322,599 (GRCm39) |
V2604A |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,073,204 (GRCm39) |
D213V |
probably damaging |
Het |
| Npbwr1 |
G |
A |
1: 5,987,397 (GRCm39) |
A39V |
possibly damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,632,888 (GRCm39) |
D191G |
probably benign |
Het |
| Olfml1 |
T |
G |
7: 107,166,977 (GRCm39) |
V2G |
probably benign |
Het |
| Or4k38 |
A |
T |
2: 111,166,131 (GRCm39) |
Y97* |
probably null |
Het |
| Or5b105 |
T |
A |
19: 13,080,020 (GRCm39) |
Y216F |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,538,200 (GRCm39) |
K1175E |
probably damaging |
Het |
| Pira13 |
C |
A |
7: 3,826,301 (GRCm39) |
E231* |
probably null |
Het |
| Plekhg2 |
C |
T |
7: 28,060,291 (GRCm39) |
V989I |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,075,255 (GRCm39) |
|
probably benign |
Het |
| Rest |
G |
T |
5: 77,429,766 (GRCm39) |
Q728H |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,494,423 (GRCm39) |
I868N |
probably damaging |
Het |
| Spcs3 |
A |
G |
8: 54,981,375 (GRCm39) |
|
probably null |
Het |
| Speg |
A |
G |
1: 75,387,976 (GRCm39) |
S1445G |
possibly damaging |
Het |
| Spmap2 |
C |
A |
10: 79,412,510 (GRCm39) |
R327L |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,200 (GRCm39) |
F261S |
possibly damaging |
Het |
| Trav9d-4 |
A |
G |
14: 53,221,284 (GRCm39) |
S93G |
probably benign |
Het |
| Trbv5 |
T |
A |
6: 41,039,517 (GRCm39) |
C41S |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,626,171 (GRCm39) |
S1131P |
possibly damaging |
Het |
| Ttc28 |
C |
T |
5: 111,325,507 (GRCm39) |
R313* |
probably null |
Het |
| Ubap2l |
T |
C |
3: 89,920,007 (GRCm39) |
T853A |
unknown |
Het |
| Xirp2 |
T |
C |
2: 67,343,159 (GRCm39) |
V1800A |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,303,985 (GRCm39) |
L1333P |
possibly 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 |
|
R4541:Prkcq
|
UTSW |
2 |
11,288,623 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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 |
|
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'- ATGCTTTGACATGCAGATGGC -3'
(R):5'- TCCCCTTCATGATGCACAGAG -3'
Sequencing Primer
(F):5'- ACCTCACAGTGCAGAGCTG -3'
(R):5'- CAGAGAACTGTGTGTGTGTGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation