Incidental Mutation 'R8491:Prkcq'
| ID |
657975 |
| 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 |
067933-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11176922-11306033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11284335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 502
(Y502H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028118]
[ENSMUST00000102970]
|
| AlphaFold |
Q02111 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028118
AA Change: Y502H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: Y502H
| 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 damaging
Transcript: ENSMUST00000102970
AA Change: Y502H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: Y502H
| 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 |
|
| Meta Mutation Damage Score |
0.5610 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aard |
A |
T |
15: 51,903,708 (GRCm39) |
I44F |
unknown |
Het |
| Agap1 |
A |
G |
1: 89,537,294 (GRCm39) |
E100G |
probably damaging |
Het |
| Aoc3 |
G |
T |
11: 101,223,042 (GRCm39) |
R426L |
probably benign |
Het |
| Aspm |
T |
G |
1: 139,385,433 (GRCm39) |
L359R |
probably damaging |
Het |
| Atp8b2 |
A |
G |
3: 89,865,676 (GRCm39) |
S75P |
probably damaging |
Het |
| Bcl9l |
A |
G |
9: 44,412,065 (GRCm39) |
E17G |
probably benign |
Het |
| Casc3 |
G |
T |
11: 98,713,977 (GRCm39) |
R403L |
probably benign |
Het |
| Cdh16 |
T |
C |
8: 105,343,681 (GRCm39) |
D605G |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,757,775 (GRCm39) |
|
probably null |
Het |
| Cers5 |
T |
A |
15: 99,638,831 (GRCm39) |
K161N |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,933,157 (GRCm39) |
D454E |
probably damaging |
Het |
| Cxcl15 |
T |
A |
5: 90,943,089 (GRCm39) |
C30* |
probably null |
Het |
| Cyp4a12a |
C |
A |
4: 115,158,650 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
A |
T |
8: 37,052,000 (GRCm39) |
I577N |
probably benign |
Het |
| Dusp6 |
C |
A |
10: 99,102,081 (GRCm39) |
R210S |
possibly damaging |
Het |
| Faxc |
T |
A |
4: 21,993,319 (GRCm39) |
M321K |
probably damaging |
Het |
| Fez2 |
C |
A |
17: 78,692,200 (GRCm39) |
V340L |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gdnf |
A |
G |
15: 7,864,272 (GRCm39) |
I228V |
possibly damaging |
Het |
| Gm12258 |
A |
G |
11: 58,745,122 (GRCm39) |
T18A |
|
Het |
| Gm5460 |
T |
C |
14: 33,761,740 (GRCm39) |
L194P |
probably damaging |
Het |
| Gm6040 |
T |
G |
8: 21,407,135 (GRCm39) |
R28S |
possibly damaging |
Het |
| Gmps |
A |
G |
3: 63,921,779 (GRCm39) |
E594G |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,281,030 (GRCm39) |
V3334A |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,506,963 (GRCm39) |
|
probably null |
Het |
| Ins1 |
A |
G |
19: 52,252,808 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,859,688 (GRCm39) |
D1229V |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,196,384 (GRCm39) |
D347G |
probably damaging |
Het |
| Or52d3 |
G |
A |
7: 104,229,242 (GRCm39) |
V130I |
probably damaging |
Het |
| Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,565,244 (GRCm39) |
N3K |
unknown |
Het |
| Pigl |
A |
G |
11: 62,364,293 (GRCm39) |
R112G |
probably null |
Het |
| Psg16 |
T |
C |
7: 16,824,437 (GRCm39) |
Y74H |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,722,161 (GRCm39) |
G60D |
possibly damaging |
Het |
| Rpp14 |
A |
T |
14: 8,083,925 (GRCm38) |
Q27L |
possibly damaging |
Het |
| Serpini2 |
A |
C |
3: 75,159,822 (GRCm39) |
C315G |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,592 (GRCm39) |
I60T |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,106,678 (GRCm39) |
Y1436H |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Tob1 |
A |
G |
11: 94,105,115 (GRCm39) |
D217G |
probably benign |
Het |
| Trim21 |
A |
C |
7: 102,208,689 (GRCm39) |
D343E |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Trmt13 |
T |
C |
3: 116,376,228 (GRCm39) |
R388G |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,582 (GRCm39) |
V305A |
probably benign |
Het |
| Ushbp1 |
A |
G |
8: 71,845,041 (GRCm39) |
V244A |
probably benign |
Het |
| Vdac2 |
T |
A |
14: 21,887,838 (GRCm39) |
N60K |
possibly damaging |
Het |
| Vwa5a |
A |
G |
9: 38,652,476 (GRCm39) |
E753G |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,411,987 (GRCm39) |
D706G |
probably benign |
Het |
| Zbtb5 |
T |
C |
4: 44,995,090 (GRCm39) |
D98G |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,729,621 (GRCm39) |
I551M |
probably benign |
Het |
| Zfp958 |
G |
T |
8: 4,676,215 (GRCm39) |
R61I |
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 |
|
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'- GGGGTTTACTCTGCTGTCCC -3'
(R):5'- GACCCAGAAGCACGAGGTAC -3'
Sequencing Primer
(F):5'- CTGTCCTCATGCTGTGTCTTGG -3'
(R):5'- TAATGTTGTCAGAGATGAATAGTGGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation