Incidental Mutation 'R3547:Prkcq'
| ID |
268221 |
| 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 |
040666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11176922-11306033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11288627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 527
(K527E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028118]
[ENSMUST00000102970]
|
| AlphaFold |
Q02111 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028118
AA Change: K527E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: K527E
| 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: K527E
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: K527E
| 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: ENSMUST00000195207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195628
|
| Meta Mutation Damage Score |
0.9232 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
98% (62/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg5 |
A |
G |
3: 54,656,736 (GRCm39) |
R316G |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,484,602 (GRCm39) |
N1121D |
possibly damaging |
Het |
| Antxr2 |
A |
T |
5: 98,125,516 (GRCm39) |
I247N |
probably benign |
Het |
| Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
| Arl9 |
A |
G |
5: 77,158,326 (GRCm39) |
D136G |
probably benign |
Het |
| Atxn1l |
A |
G |
8: 110,458,981 (GRCm39) |
L427P |
possibly damaging |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Clec4a3 |
A |
G |
6: 122,941,239 (GRCm39) |
E78G |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Col12a1 |
T |
G |
9: 79,540,698 (GRCm39) |
K2429T |
probably damaging |
Het |
| Col20a1 |
G |
T |
2: 180,636,704 (GRCm39) |
E228D |
probably damaging |
Het |
| Cx3cl1 |
A |
C |
8: 95,504,752 (GRCm39) |
E56A |
possibly damaging |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,297,005 (GRCm39) |
V456A |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,790,599 (GRCm39) |
T56K |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,308,699 (GRCm39) |
G3995D |
possibly damaging |
Het |
| Igkv4-50 |
G |
A |
6: 69,677,765 (GRCm39) |
T113I |
probably benign |
Het |
| Igkv5-43 |
A |
G |
6: 69,753,240 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,237,962 (GRCm39) |
H740Y |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
| Lcmt1 |
A |
G |
7: 122,999,702 (GRCm39) |
E94G |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Ly6m |
C |
A |
15: 74,753,463 (GRCm39) |
A18S |
probably null |
Het |
| Map3k3 |
C |
T |
11: 106,033,379 (GRCm39) |
Q211* |
probably null |
Het |
| Map4 |
T |
A |
9: 109,881,266 (GRCm39) |
F43L |
possibly damaging |
Het |
| Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,700,538 (GRCm39) |
V460I |
possibly damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or52b3 |
A |
G |
7: 102,203,677 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pi4k2a |
C |
T |
19: 42,078,987 (GRCm39) |
P16L |
probably benign |
Het |
| Pitx3 |
T |
A |
19: 46,124,548 (GRCm39) |
Q273L |
possibly damaging |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,388,118 (GRCm39) |
Y428C |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,101,712 (GRCm39) |
S2405R |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rnf167 |
T |
C |
11: 70,540,507 (GRCm39) |
I129T |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfxn2 |
T |
C |
19: 46,578,635 (GRCm39) |
S217P |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Slc22a17 |
A |
G |
14: 55,144,694 (GRCm39) |
L573P |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,574 (GRCm39) |
Y181H |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,489,567 (GRCm39) |
S159P |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,573 (GRCm39) |
D1045G |
probably damaging |
Het |
| Ugt8a |
A |
T |
3: 125,661,031 (GRCm39) |
L487* |
probably null |
Het |
| Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Uty |
A |
C |
Y: 1,158,512 (GRCm39) |
D463E |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly damaging |
Het |
| Vps13d |
T |
G |
4: 144,801,545 (GRCm39) |
T3558P |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,055,445 (GRCm39) |
S253P |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,499,476 (GRCm39) |
S1265G |
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 |
|
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'- TGAGAACAGCCATTCGTGG -3'
(R):5'- CCCATTTGTGTGTCTGCAACTG -3'
Sequencing Primer
(F):5'- AACAGCCATTCGTGGTCAGC -3'
(R):5'- GTGTGTCTGCAACTGGAAAATACTCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation