Incidental Mutation 'R6008:Prkcq'
| ID |
479569 |
| 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 |
044185-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6008 (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 11261097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 383
(H383R)
|
| 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: H383R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: H383R
| 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: H383R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: H383R
| 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: ENSMUST00000114853
|
| SMART Domains |
Protein: ENSMUSP00000110503
Gene: ENSMUSG00000026778
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2ENJ|A
|
3 |
126 |
9e-86 |
PDB |
|
Blast:C2
|
6 |
101 |
2e-44 |
BLAST |
|
C1
|
160 |
209 |
3.27e-15 |
SMART |
|
C1
|
232 |
281 |
2.22e-17 |
SMART |
|
Pfam:Pkinase
|
380 |
465 |
1.7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195628
|
| Meta Mutation Damage Score |
0.5248 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
98% (55/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,727,978 (GRCm39) |
L1268P |
possibly damaging |
Het |
| Acot3 |
T |
A |
12: 84,103,860 (GRCm39) |
V223E |
probably damaging |
Het |
| Afap1 |
T |
G |
5: 36,154,895 (GRCm39) |
S680A |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,116,672 (GRCm39) |
A801V |
probably damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,710,687 (GRCm39) |
T155K |
probably damaging |
Het |
| Bard1 |
C |
A |
1: 71,069,909 (GRCm39) |
V690F |
possibly damaging |
Het |
| Btnl9 |
C |
A |
11: 49,073,792 (GRCm39) |
|
probably null |
Het |
| C1rl |
A |
G |
6: 124,470,147 (GRCm39) |
N13S |
probably benign |
Het |
| Cad |
C |
A |
5: 31,226,456 (GRCm39) |
T1166K |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,393,334 (GRCm39) |
M405K |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,825,944 (GRCm39) |
|
probably null |
Het |
| Ctnna2 |
A |
G |
6: 76,892,811 (GRCm39) |
L792P |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,438,929 (GRCm39) |
V1099D |
possibly damaging |
Het |
| Dnai2 |
A |
G |
11: 114,643,816 (GRCm39) |
N482S |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,583,890 (GRCm39) |
T184A |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,340,546 (GRCm39) |
L68H |
probably damaging |
Het |
| Edn3 |
A |
G |
2: 174,621,525 (GRCm39) |
T149A |
probably benign |
Het |
| Erf |
C |
T |
7: 24,945,041 (GRCm39) |
V131M |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,865,118 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,937,099 (GRCm39) |
V161A |
probably benign |
Het |
| Gpr17 |
T |
A |
18: 32,080,530 (GRCm39) |
T178S |
probably benign |
Het |
| Gsg1l2 |
T |
A |
11: 67,665,537 (GRCm39) |
I35N |
possibly damaging |
Het |
| Hmgn3 |
T |
A |
9: 82,994,284 (GRCm39) |
T46S |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,325,717 (GRCm39) |
I4709L |
probably benign |
Het |
| Ifna9 |
A |
T |
4: 88,510,600 (GRCm39) |
L8Q |
probably null |
Het |
| Iftap |
A |
T |
2: 101,413,898 (GRCm39) |
M133K |
possibly damaging |
Het |
| Kpna4 |
T |
C |
3: 69,034,066 (GRCm39) |
E125G |
probably null |
Het |
| Lrriq1 |
A |
G |
10: 103,006,325 (GRCm39) |
S1267P |
probably damaging |
Het |
| Mab21l1 |
G |
T |
3: 55,690,518 (GRCm39) |
C35F |
possibly damaging |
Het |
| Map3k2 |
A |
G |
18: 32,336,104 (GRCm39) |
D97G |
probably damaging |
Het |
| Matcap2 |
G |
A |
9: 22,335,422 (GRCm39) |
W13* |
probably null |
Het |
| Mdn1 |
T |
A |
4: 32,741,073 (GRCm39) |
I3799N |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,299,158 (GRCm39) |
R1959C |
probably damaging |
Het |
| Mroh1 |
A |
T |
15: 76,335,557 (GRCm39) |
H1400L |
possibly damaging |
Het |
| Mroh4 |
T |
A |
15: 74,497,321 (GRCm39) |
K167* |
probably null |
Het |
| Mroh8 |
A |
G |
2: 157,094,984 (GRCm39) |
I334T |
probably benign |
Het |
| Or51a25 |
T |
A |
7: 102,373,574 (GRCm39) |
Y41F |
probably damaging |
Het |
| Phf11d |
T |
A |
14: 59,602,898 (GRCm39) |
|
probably benign |
Het |
| Phf21a |
C |
T |
2: 92,182,097 (GRCm39) |
T342I |
possibly damaging |
Het |
| Pira12 |
G |
T |
7: 3,897,599 (GRCm39) |
H499N |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,055,591 (GRCm39) |
E483G |
possibly damaging |
Het |
| Ppp1r3b |
G |
A |
8: 35,851,355 (GRCm39) |
A65T |
probably damaging |
Het |
| Pramel30 |
C |
T |
4: 144,057,777 (GRCm39) |
T128I |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,496,158 (GRCm39) |
V961A |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,711,561 (GRCm39) |
E96G |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,086,025 (GRCm39) |
E522V |
probably damaging |
Het |
| Socs4 |
T |
G |
14: 47,527,618 (GRCm39) |
C184W |
probably damaging |
Het |
| Spdye4c |
A |
T |
2: 128,438,553 (GRCm39) |
I304F |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,789,306 (GRCm39) |
I1249V |
possibly damaging |
Het |
| Sys1 |
T |
C |
2: 164,306,507 (GRCm39) |
S154P |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,755,530 (GRCm39) |
Q275R |
possibly damaging |
Het |
| Tas2r107 |
A |
G |
6: 131,636,875 (GRCm39) |
V58A |
possibly damaging |
Het |
| Thada |
T |
A |
17: 84,744,062 (GRCm39) |
I749F |
probably damaging |
Het |
| Tubb1 |
T |
A |
2: 174,299,567 (GRCm39) |
H416Q |
probably benign |
Het |
| Vmn2r109 |
G |
A |
17: 20,760,981 (GRCm39) |
T792I |
probably damaging |
Het |
| Zfp988 |
A |
G |
4: 147,416,259 (GRCm39) |
Q231R |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,684,707 (GRCm39) |
I182V |
possibly damaging |
Het |
| Zzz3 |
T |
C |
3: 152,133,788 (GRCm39) |
V282A |
probably benign |
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 |
|
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'- TGCCCTAAGTGCCTACAGTG -3'
(R):5'- GCTTAAAACAATGGATTTGGGGC -3'
Sequencing Primer
(F):5'- AGTGCCTACAGTGAGTGACCTTAC -3'
(R):5'- TTTGGGGCCAAAGATCCATAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation