Incidental Mutation 'R1693:Prkcq'
ID |
191906 |
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 |
039726-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1693 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
11176922-11306033 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 11259010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 310
(I310N)
|
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: I310N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000028118 Gene: ENSMUSG00000026778 AA Change: I310N
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: I310N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000100035 Gene: ENSMUSG00000026778 AA Change: I310N
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 |
0.1025 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.2%
- 20x: 92.2%
|
Validation Efficiency |
96% (69/72) |
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 |
Aff4 |
A |
G |
11: 53,287,380 (GRCm39) |
D378G |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Aox1 |
T |
C |
1: 58,124,701 (GRCm39) |
Y981H |
probably damaging |
Het |
Arfgap2 |
T |
A |
2: 91,100,420 (GRCm39) |
|
probably null |
Het |
Ccnf |
TGGGGG |
TGGGGGGG |
17: 24,445,514 (GRCm39) |
|
probably null |
Het |
Cd53 |
T |
C |
3: 106,676,205 (GRCm39) |
N54S |
possibly damaging |
Het |
Cep152 |
C |
A |
2: 125,408,174 (GRCm39) |
A1390S |
probably benign |
Het |
Cfap91 |
A |
G |
16: 38,162,085 (GRCm39) |
Y19H |
probably benign |
Het |
Chd7 |
T |
C |
4: 8,864,307 (GRCm39) |
|
probably null |
Het |
Chrm5 |
A |
G |
2: 112,309,625 (GRCm39) |
L497P |
probably damaging |
Het |
Colec12 |
G |
A |
18: 9,866,765 (GRCm39) |
V659M |
unknown |
Het |
Creb3 |
C |
A |
4: 43,566,755 (GRCm39) |
H390Q |
probably damaging |
Het |
D1Pas1 |
T |
C |
1: 186,700,226 (GRCm39) |
F52L |
probably benign |
Het |
D5Ertd579e |
A |
G |
5: 36,771,441 (GRCm39) |
F985L |
probably damaging |
Het |
Dock4 |
C |
T |
12: 40,884,721 (GRCm39) |
P1742S |
probably benign |
Het |
Ehmt2 |
G |
T |
17: 35,125,386 (GRCm39) |
V534L |
possibly damaging |
Het |
Epcam |
A |
G |
17: 87,947,324 (GRCm39) |
D26G |
probably benign |
Het |
F2 |
C |
T |
2: 91,459,524 (GRCm39) |
V420M |
probably damaging |
Het |
Fbxw16 |
A |
T |
9: 109,265,327 (GRCm39) |
D401E |
possibly damaging |
Het |
Fiz1 |
T |
C |
7: 5,011,727 (GRCm39) |
T264A |
probably benign |
Het |
Fsbp |
T |
C |
4: 11,583,745 (GRCm39) |
V148A |
probably benign |
Het |
Furin |
A |
G |
7: 80,042,230 (GRCm39) |
L455P |
probably damaging |
Het |
Ggt7 |
G |
A |
2: 155,348,395 (GRCm39) |
R10W |
probably damaging |
Het |
Gucy2g |
T |
C |
19: 55,211,358 (GRCm39) |
E624G |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,923,203 (GRCm39) |
F1202S |
probably damaging |
Het |
Ikzf1 |
C |
T |
11: 11,657,838 (GRCm39) |
P32S |
probably damaging |
Het |
Itgal |
G |
A |
7: 126,904,453 (GRCm39) |
V309M |
probably damaging |
Het |
Kcnk5 |
C |
A |
14: 20,191,964 (GRCm39) |
R399L |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,525,314 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
Lrp4 |
T |
C |
2: 91,322,698 (GRCm39) |
Y1096H |
probably damaging |
Het |
Lrrc7 |
C |
G |
3: 157,790,170 (GRCm39) |
S1465T |
possibly damaging |
Het |
Map3k5 |
A |
G |
10: 19,979,988 (GRCm39) |
N832S |
probably damaging |
Het |
Mrtfb |
C |
A |
16: 13,216,334 (GRCm39) |
L349I |
possibly damaging |
Het |
Mrtfb |
T |
A |
16: 13,216,335 (GRCm39) |
L349Q |
probably damaging |
Het |
Myh13 |
A |
C |
11: 67,232,310 (GRCm39) |
M495L |
possibly damaging |
Het |
Myh9 |
A |
C |
15: 77,697,097 (GRCm39) |
Y106D |
probably damaging |
Het |
Naa16 |
A |
T |
14: 79,588,896 (GRCm39) |
W452R |
probably damaging |
Het |
Nsd1 |
T |
C |
13: 55,395,074 (GRCm39) |
S892P |
probably benign |
Het |
Nup205 |
A |
G |
6: 35,187,906 (GRCm39) |
I939V |
probably benign |
Het |
Oit3 |
A |
G |
10: 59,261,239 (GRCm39) |
F476S |
probably damaging |
Het |
Or7e174 |
T |
C |
9: 20,012,883 (GRCm39) |
V276A |
probably benign |
Het |
Panx3 |
A |
T |
9: 37,580,203 (GRCm39) |
M50K |
possibly damaging |
Het |
Panx3 |
A |
C |
9: 37,580,242 (GRCm39) |
M37R |
possibly damaging |
Het |
Pip4p2 |
T |
A |
4: 14,886,631 (GRCm39) |
D68E |
probably benign |
Het |
Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
Prkaca |
T |
A |
8: 84,707,827 (GRCm39) |
D37E |
probably benign |
Het |
Prrc2c |
A |
G |
1: 162,546,282 (GRCm39) |
Y235H |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,280,141 (GRCm39) |
C1052* |
probably null |
Het |
Rad52 |
C |
A |
6: 119,892,996 (GRCm39) |
P180Q |
probably damaging |
Het |
Sdhaf3 |
T |
A |
6: 7,038,964 (GRCm39) |
D95E |
probably benign |
Het |
Slitrk6 |
A |
G |
14: 110,988,360 (GRCm39) |
I449T |
probably damaging |
Het |
Spata7 |
T |
A |
12: 98,630,516 (GRCm39) |
M358K |
possibly damaging |
Het |
Tada2a |
C |
T |
11: 83,972,895 (GRCm39) |
G178D |
probably damaging |
Het |
Tap2 |
G |
C |
17: 34,428,186 (GRCm39) |
V287L |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,869,877 (GRCm39) |
F131L |
possibly damaging |
Het |
Traip |
A |
T |
9: 107,847,229 (GRCm39) |
K356M |
probably damaging |
Het |
Tspan8 |
T |
A |
10: 115,679,949 (GRCm39) |
|
probably benign |
Het |
U2surp |
A |
T |
9: 95,393,913 (GRCm39) |
M1K |
probably null |
Het |
Vars1 |
A |
T |
17: 35,217,172 (GRCm39) |
D427E |
probably benign |
Het |
Vmn1r113 |
G |
A |
7: 20,521,532 (GRCm39) |
C108Y |
probably damaging |
Het |
Vmn2r63 |
T |
A |
7: 42,577,743 (GRCm39) |
Q265L |
probably benign |
Het |
Vps33b |
T |
A |
7: 79,937,641 (GRCm39) |
V463E |
probably damaging |
Het |
Vrtn |
T |
C |
12: 84,695,429 (GRCm39) |
S60P |
probably benign |
Het |
Zfp53 |
T |
A |
17: 21,729,884 (GRCm39) |
V639D |
possibly damaging |
Het |
Zfp964 |
T |
A |
8: 70,116,800 (GRCm39) |
S466T |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCCAAGAGCCTGCTGCTGATACA -3'
(R):5'- CTTAAGGCCAGAGAACAAGTGGATCGT -3'
Sequencing Primer
(F):5'- agaaagaaagagaaagagagagagag -3'
(R):5'- TGGATCGTGACAAGTGACC -3'
|
Posted On |
2014-05-14 |