Incidental Mutation 'R9164:Prkcq'
| ID |
695888 |
| 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 |
068944-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9164 (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 11231716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 13
(D13G)
|
| 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 damaging
Transcript: ENSMUST00000028118
AA Change: D13G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: D13G
| 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: D13G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: D13G
| 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: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,278,157 (GRCm39) |
E3112D |
probably damaging |
Het |
| Abtb2 |
C |
T |
2: 103,541,829 (GRCm39) |
T847I |
possibly damaging |
Het |
| Acox1 |
A |
T |
11: 116,089,173 (GRCm39) |
H48Q |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,486,795 (GRCm39) |
I161T |
possibly damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,511,204 (GRCm39) |
Y388H |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,041,090 (GRCm39) |
K593* |
probably null |
Het |
| Bicc1 |
G |
A |
10: 70,781,094 (GRCm39) |
T661M |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,580,766 (GRCm39) |
|
probably null |
Het |
| Celf1 |
T |
A |
2: 90,831,426 (GRCm39) |
L85H |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,852,318 (GRCm39) |
M520K |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,155,960 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Chd1l |
C |
T |
3: 97,501,356 (GRCm39) |
R230H |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 38,995,571 (GRCm39) |
K28* |
probably null |
Het |
| D930048N14Rik |
A |
T |
11: 51,545,609 (GRCm39) |
H167L |
unknown |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,754,337 (GRCm39) |
I442N |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,180,308 (GRCm39) |
C1960R |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,936,324 (GRCm39) |
S2G |
unknown |
Het |
| Gm37240 |
T |
C |
3: 84,417,248 (GRCm39) |
N157S |
possibly damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,283 (GRCm39) |
I350V |
unknown |
Het |
| Gtf3c4 |
A |
G |
2: 28,724,661 (GRCm39) |
V357A |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,396,106 (GRCm39) |
I377V |
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,660,689 (GRCm39) |
D28G |
probably benign |
Het |
| Intu |
A |
T |
3: 40,645,133 (GRCm39) |
D508V |
probably damaging |
Het |
| Kif28 |
A |
T |
1: 179,533,333 (GRCm39) |
M604K |
probably damaging |
Het |
| Klra6 |
T |
A |
6: 129,993,687 (GRCm39) |
I195F |
possibly damaging |
Het |
| Lhfpl6 |
G |
A |
3: 52,950,887 (GRCm39) |
V54I |
probably benign |
Het |
| Lrpap1 |
T |
C |
5: 35,262,923 (GRCm39) |
Y38C |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,562,351 (GRCm39) |
Q2453L |
unknown |
Het |
| Map1b |
C |
A |
13: 99,568,816 (GRCm39) |
E1302* |
probably null |
Het |
| Map7 |
C |
T |
10: 20,122,410 (GRCm39) |
R159C |
probably benign |
Het |
| Mov10l1 |
C |
T |
15: 88,896,361 (GRCm39) |
T735I |
probably benign |
Het |
| Nfasc |
C |
A |
1: 132,562,544 (GRCm39) |
R77L |
probably damaging |
Het |
| Nipsnap1 |
T |
C |
11: 4,839,969 (GRCm39) |
V230A |
probably benign |
Het |
| Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,954 (GRCm39) |
M277K |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,504 (GRCm39) |
N137I |
possibly damaging |
Het |
| Orm3 |
T |
C |
4: 63,274,809 (GRCm39) |
L39P |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,631,852 (GRCm39) |
V549E |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,731,699 (GRCm39) |
S274R |
|
Het |
| Phactr1 |
A |
G |
13: 42,836,178 (GRCm39) |
D2G |
possibly damaging |
Het |
| Phtf2 |
G |
A |
5: 21,008,190 (GRCm39) |
R164* |
probably null |
Het |
| Proser1 |
A |
T |
3: 53,379,494 (GRCm39) |
N156I |
probably benign |
Het |
| Prss51 |
T |
C |
14: 64,334,958 (GRCm39) |
I171T |
probably damaging |
Het |
| Ptbp2 |
G |
A |
3: 119,546,640 (GRCm39) |
P81S |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,404,222 (GRCm39) |
D681G |
possibly damaging |
Het |
| Rigi |
T |
A |
4: 40,208,827 (GRCm39) |
M762L |
probably damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,564,360 (GRCm39) |
I349F |
probably damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,235,312 (GRCm39) |
T240K |
possibly damaging |
Het |
| Sowahc |
C |
A |
10: 59,057,897 (GRCm39) |
A11E |
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,216,399 (GRCm39) |
Y526F |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,084,626 (GRCm39) |
H526R |
probably benign |
Het |
| Stx1b |
T |
C |
7: 127,414,159 (GRCm39) |
K69R |
probably benign |
Het |
| Tal1 |
T |
C |
4: 114,920,646 (GRCm39) |
S107P |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,606,975 (GRCm39) |
I273M |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 87,980,295 (GRCm39) |
Y135* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,583,856 (GRCm39) |
P22384S |
probably damaging |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,087 (GRCm39) |
T610P |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,669 (GRCm39) |
*850C |
probably null |
Het |
| Vwf |
T |
A |
6: 125,542,806 (GRCm39) |
I94N |
|
Het |
| Zan |
A |
T |
5: 137,422,333 (GRCm39) |
S2762T |
unknown |
Het |
| Zbtb20 |
A |
G |
16: 43,430,764 (GRCm39) |
Q352R |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,259,374 (GRCm39) |
Y1649H |
probably benign |
Het |
| Zfp397 |
A |
T |
18: 24,089,828 (GRCm39) |
Q111L |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,975,825 (GRCm39) |
I698N |
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 |
|
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 |
|
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 |
|
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'- TGTTCAGAAGGATAGCAGGC -3'
(R):5'- TGGCCTTTGTTGGTCACCAG -3'
Sequencing Primer
(F):5'- GCTCATTGTAAGCCCTGGC -3'
(R):5'- CCCGACCCCAGTTAATTTA -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation