Incidental Mutation 'R3429:Prkcq'
| ID |
267976 |
| 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 |
040647-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3429 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11176922-11306033 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11251781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 206
(I206T)
|
| 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: I206T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028118
Gene: ENSMUSG00000026778
AA Change: I206T
| 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: I206T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100035
Gene: ENSMUSG00000026778
AA Change: I206T
| 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 |
0.3226 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
98% (65/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,613,249 (GRCm39) |
M1K |
probably null |
Het |
| Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
| Ankfy1 |
C |
T |
11: 72,602,980 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
| Asah1 |
C |
T |
8: 41,804,925 (GRCm39) |
|
probably benign |
Het |
| B4galnt4 |
T |
C |
7: 140,650,752 (GRCm39) |
L842P |
probably damaging |
Het |
| Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
| Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
| Cdh5 |
T |
A |
8: 104,857,600 (GRCm39) |
I342N |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,512,088 (GRCm39) |
E109D |
probably benign |
Het |
| Cntrl |
T |
C |
2: 35,035,112 (GRCm39) |
L913S |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,655,166 (GRCm39) |
Y852N |
probably damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,438,573 (GRCm39) |
|
probably null |
Het |
| Cyp2c66 |
T |
A |
19: 39,151,892 (GRCm39) |
N202K |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
| Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,937,832 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
A |
3: 82,920,090 (GRCm39) |
F290I |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
| Foxl2 |
T |
C |
9: 98,838,035 (GRCm39) |
F108L |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
| Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
| Gstz1 |
T |
A |
12: 87,210,470 (GRCm39) |
|
probably null |
Het |
| Hacd1 |
T |
C |
2: 14,049,586 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,299,156 (GRCm39) |
L2834Q |
possibly damaging |
Het |
| Hs3st3a1 |
C |
T |
11: 64,327,148 (GRCm39) |
R86W |
probably benign |
Het |
| Krtap1-4 |
G |
C |
11: 99,474,020 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
A |
G |
7: 140,793,910 (GRCm39) |
V21A |
probably benign |
Het |
| Lonp1 |
T |
A |
17: 56,925,337 (GRCm39) |
D485V |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,236,427 (GRCm39) |
T1346A |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,976,141 (GRCm39) |
T6A |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,466,866 (GRCm39) |
V1299E |
probably damaging |
Het |
| Myo1d |
C |
T |
11: 80,573,236 (GRCm39) |
G197E |
probably damaging |
Het |
| Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
| Or2ak5 |
T |
A |
11: 58,611,097 (GRCm39) |
Y259F |
probably damaging |
Het |
| Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
| Or2y1e |
C |
T |
11: 49,218,868 (GRCm39) |
A210V |
probably benign |
Het |
| Or4c121 |
T |
A |
2: 89,023,617 (GRCm39) |
I254L |
probably benign |
Het |
| Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
| Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
| Pnp |
A |
G |
14: 51,185,443 (GRCm39) |
D49G |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
| Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
| Sgce |
T |
A |
6: 4,730,008 (GRCm39) |
D72V |
probably benign |
Het |
| Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
| Sost |
C |
G |
11: 101,854,865 (GRCm39) |
G148A |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,609,854 (GRCm39) |
E138G |
probably damaging |
Het |
| Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,891,605 (GRCm39) |
C649* |
probably null |
Het |
| Tnxb |
A |
G |
17: 34,922,561 (GRCm39) |
Y2458C |
probably damaging |
Het |
| Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,357,544 (GRCm39) |
H1117R |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,756 (GRCm39) |
|
probably benign |
Het |
| Zfp764l1 |
T |
C |
7: 126,990,914 (GRCm39) |
T358A |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 7,230,625 (GRCm39) |
|
probably benign |
Het |
| Zfr |
T |
C |
15: 12,153,006 (GRCm39) |
S546P |
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 |
|
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'- TGAACAAGCAGGGTTACCAG -3'
(R):5'- GAACCCTGATGATAGTGCCC -3'
Sequencing Primer
(F):5'- AAGCAGGGTTACCAGTGCCG -3'
(R):5'- GATGATAGTGCCCCCTTGAAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation