Incidental Mutation 'IGL03149:Prkcq'
| ID |
411008 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prkcq
|
| Ensembl Gene |
ENSMUSG00000026778 |
| Gene Name |
protein kinase C, theta |
| Synonyms |
A130035A12Rik, PKC-theta, PKC theta, PKC-0, Pkcq, PKCtheta |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
11176922-11306033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11237356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 45
(Y45F)
|
| 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: Y45F
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: Y45F
| 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: Y45F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: Y45F
| 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: ENSMUST00000192244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195207
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
A |
G |
8: 78,136,167 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,008,085 (GRCm39) |
I546T |
possibly damaging |
Het |
| Arsj |
A |
T |
3: 126,233,053 (GRCm39) |
|
probably benign |
Het |
| Ash2l |
A |
G |
8: 26,308,650 (GRCm39) |
V543A |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,208,555 (GRCm39) |
|
probably benign |
Het |
| Blvra |
T |
A |
2: 126,924,871 (GRCm39) |
V11E |
probably damaging |
Het |
| Calcb |
T |
C |
7: 114,319,371 (GRCm39) |
L51P |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,025,563 (GRCm39) |
K52N |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,229,982 (GRCm39) |
N857S |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,791,502 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,470,295 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,674 (GRCm39) |
L283H |
probably damaging |
Het |
| Ctc1 |
T |
C |
11: 68,921,987 (GRCm39) |
V811A |
possibly damaging |
Het |
| Ctsk |
T |
C |
3: 95,408,730 (GRCm39) |
S65P |
possibly damaging |
Het |
| Ddx51 |
A |
G |
5: 110,801,600 (GRCm39) |
N83D |
probably benign |
Het |
| Eci2 |
T |
C |
13: 35,172,296 (GRCm39) |
T146A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,977,671 (GRCm39) |
N629D |
possibly damaging |
Het |
| Etfbkmt |
A |
G |
6: 149,045,781 (GRCm39) |
E45G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,045,834 (GRCm39) |
N3951S |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
| Garem1 |
G |
T |
18: 21,264,523 (GRCm39) |
P534T |
probably damaging |
Het |
| Gm8237 |
A |
G |
14: 5,864,451 (GRCm38) |
I37T |
probably benign |
Het |
| Ikzf5 |
T |
C |
7: 130,998,494 (GRCm39) |
K13E |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,906,200 (GRCm39) |
C523* |
probably null |
Het |
| Klhl7 |
G |
A |
5: 24,364,687 (GRCm39) |
V574I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,856,029 (GRCm39) |
V2450A |
probably benign |
Het |
| Map3k6 |
A |
T |
4: 132,976,999 (GRCm39) |
I819F |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,401,074 (GRCm39) |
E891G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,147,355 (GRCm39) |
S63P |
probably damaging |
Het |
| Ndufaf7 |
C |
T |
17: 79,252,439 (GRCm39) |
R283C |
possibly damaging |
Het |
| Nepro |
G |
T |
16: 44,547,462 (GRCm39) |
A60S |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,119,445 (GRCm39) |
S354P |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,172 (GRCm39) |
|
probably null |
Het |
| Or52ad1 |
A |
T |
7: 102,996,056 (GRCm39) |
H26Q |
probably benign |
Het |
| Pacsin3 |
T |
A |
2: 91,091,852 (GRCm39) |
|
probably benign |
Het |
| Parp12 |
C |
T |
6: 39,091,165 (GRCm39) |
D142N |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,466,527 (GRCm39) |
D1449N |
probably damaging |
Het |
| Pcsk7 |
C |
T |
9: 45,820,778 (GRCm39) |
T70M |
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,733,263 (GRCm39) |
F280L |
probably benign |
Het |
| Ppm1k |
C |
A |
6: 57,501,759 (GRCm39) |
A135S |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,187,076 (GRCm39) |
I385F |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,299,036 (GRCm39) |
N603D |
probably benign |
Het |
| Ptbp2 |
G |
T |
3: 119,514,074 (GRCm39) |
T501K |
possibly damaging |
Het |
| Ranbp17 |
C |
A |
11: 33,193,183 (GRCm39) |
R957L |
possibly damaging |
Het |
| Rasl10a |
T |
C |
11: 5,008,429 (GRCm39) |
Y42H |
possibly damaging |
Het |
| Serpina9 |
G |
A |
12: 103,974,869 (GRCm39) |
Q95* |
probably null |
Het |
| Serpinb1b |
C |
A |
13: 33,269,275 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Sgo2b |
T |
A |
8: 64,379,617 (GRCm39) |
M1072L |
probably benign |
Het |
| Slc1a5 |
T |
C |
7: 16,523,745 (GRCm39) |
V250A |
probably damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,730,018 (GRCm39) |
S303P |
probably damaging |
Het |
| Tbc1d2 |
A |
T |
4: 46,637,619 (GRCm39) |
I209N |
probably benign |
Het |
| Tmc4 |
T |
A |
7: 3,670,177 (GRCm39) |
I484L |
probably benign |
Het |
| Ttll5 |
G |
A |
12: 85,965,758 (GRCm39) |
E36K |
probably damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,994,041 (GRCm39) |
M391V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,526,740 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation