Incidental Mutation 'R6618:Prkcb'
| ID |
524210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkcb
|
| Ensembl Gene |
ENSMUSG00000052889 |
| Gene Name |
protein kinase C, beta |
| Synonyms |
Prkcb1, A130082F03Rik, Prkcb2, Pkcb, PKC-Beta |
| MMRRC Submission |
044741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121888327-122233625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 122226886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 624
(R624Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064921]
[ENSMUST00000064989]
[ENSMUST00000143692]
|
| AlphaFold |
P68404 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064921
|
| SMART Domains |
Protein: ENSMUSP00000064812
Gene: ENSMUSG00000052889
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
C1
|
37 |
86 |
7.11e-16 |
SMART |
|
C1
|
102 |
151 |
1.42e-15 |
SMART |
|
C2
|
172 |
275 |
1.05e-23 |
SMART |
|
S_TKc
|
342 |
600 |
4.36e-97 |
SMART |
|
S_TK_X
|
601 |
664 |
9.86e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064989
AA Change: R624Q
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000070019
Gene: ENSMUSG00000052889
AA Change: R624Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
C1
|
37 |
86 |
7.11e-16 |
SMART |
|
C1
|
102 |
151 |
1.42e-15 |
SMART |
|
C2
|
172 |
275 |
1.05e-23 |
SMART |
|
S_TKc
|
342 |
600 |
4.36e-97 |
SMART |
|
S_TK_X
|
601 |
663 |
6.27e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127910
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143692
AA Change: R624Q
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000138788
Gene: ENSMUSG00000052889
AA Change: R624Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
C1
|
37 |
86 |
7.11e-16 |
SMART |
|
C1
|
102 |
151 |
1.42e-15 |
SMART |
|
C2
|
172 |
275 |
1.05e-23 |
SMART |
|
S_TKc
|
342 |
600 |
4.36e-97 |
SMART |
|
S_TK_X
|
601 |
663 |
6.27e-20 |
SMART |
|
| Meta Mutation Damage Score |
0.0917 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| 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 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 in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired humoral immune responses, altered proliferative responses of B cells to various stimuli, abnormal vascular wound healing, and deficits in contextual and cued fear conditioning. ENU-induced mutations leadto impaired T cell-independent IgM responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1b2 |
T |
C |
11: 69,494,289 (GRCm39) |
D68G |
probably damaging |
Het |
| Barx2 |
G |
A |
9: 31,758,168 (GRCm39) |
L257F |
probably benign |
Het |
| Bbx |
C |
G |
16: 50,086,626 (GRCm39) |
W90S |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,728,808 (GRCm39) |
D588V |
probably damaging |
Het |
| Caskin2 |
C |
T |
11: 115,690,855 (GRCm39) |
M1188I |
possibly damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,950,708 (GRCm39) |
I1651N |
probably damaging |
Het |
| Cimip2a |
C |
A |
2: 25,110,635 (GRCm39) |
L148M |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,839,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,209,069 (GRCm39) |
|
probably null |
Het |
| Fam83h |
T |
C |
15: 75,875,360 (GRCm39) |
D659G |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,126 (GRCm39) |
T477A |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,945,528 (GRCm39) |
R589L |
probably benign |
Het |
| Helz |
A |
G |
11: 107,489,976 (GRCm39) |
T144A |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,339,971 (GRCm39) |
V258D |
probably damaging |
Het |
| Isoc2a |
A |
T |
7: 4,898,325 (GRCm39) |
I183F |
probably benign |
Het |
| Kat2a |
G |
T |
11: 100,603,196 (GRCm39) |
|
probably benign |
Het |
| Klf9 |
A |
G |
19: 23,142,235 (GRCm39) |
M232V |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,377,973 (GRCm39) |
S147R |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,781 (GRCm39) |
F337L |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,240,708 (GRCm39) |
N1466I |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,919 (GRCm39) |
|
probably null |
Het |
| Pigs |
T |
C |
11: 78,232,056 (GRCm39) |
L396P |
probably damaging |
Het |
| R3hdm1 |
T |
C |
1: 128,121,302 (GRCm39) |
S269P |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,875 (GRCm39) |
I505K |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,440,523 (GRCm39) |
D777E |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,445,123 (GRCm39) |
I325V |
probably benign |
Het |
| Rpn2 |
T |
A |
2: 157,163,781 (GRCm39) |
H624Q |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,381,394 (GRCm39) |
S50N |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,683,772 (GRCm39) |
|
probably null |
Het |
| Slc49a3 |
G |
T |
5: 108,590,964 (GRCm39) |
T400K |
probably benign |
Het |
| Smim24 |
A |
G |
10: 81,229,966 (GRCm39) |
N27S |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,162,444 (GRCm39) |
D550G |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,322,349 (GRCm39) |
L23* |
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,694,844 (GRCm39) |
K703N |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,121,477 (GRCm39) |
S139P |
probably benign |
Homo |
|
| Other mutations in Prkcb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
tilcara
|
APN |
7 |
122,194,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02045:Prkcb
|
APN |
7 |
122,189,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02273:Prkcb
|
APN |
7 |
122,226,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02638:Prkcb
|
APN |
7 |
122,200,063 (GRCm39) |
splice site |
probably benign |
|
|
IGL02962:Prkcb
|
APN |
7 |
122,024,270 (GRCm39) |
splice site |
probably null |
|
|
IGL03013:Prkcb
|
APN |
7 |
122,226,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03224:Prkcb
|
APN |
7 |
122,116,147 (GRCm39) |
nonsense |
probably null |
|
|
Almonde
|
UTSW |
7 |
122,181,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Baghdad
|
UTSW |
7 |
122,226,886 (GRCm39) |
missense |
probably benign |
0.07 |
|
Mesopotamia
|
UTSW |
7 |
121,888,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Mosul
|
UTSW |
7 |
122,116,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tigris
|
UTSW |
7 |
122,024,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tikrit
|
UTSW |
7 |
122,226,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
untied
|
UTSW |
7 |
122,181,662 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
F5770:Prkcb
|
UTSW |
7 |
122,127,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0078:Prkcb
|
UTSW |
7 |
122,189,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0409:Prkcb
|
UTSW |
7 |
122,024,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0660:Prkcb
|
UTSW |
7 |
122,024,182 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1462:Prkcb
|
UTSW |
7 |
122,181,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Prkcb
|
UTSW |
7 |
122,181,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Prkcb
|
UTSW |
7 |
122,193,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Prkcb
|
UTSW |
7 |
122,143,854 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1540:Prkcb
|
UTSW |
7 |
122,226,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Prkcb
|
UTSW |
7 |
122,167,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Prkcb
|
UTSW |
7 |
122,116,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3112:Prkcb
|
UTSW |
7 |
122,116,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4583:Prkcb
|
UTSW |
7 |
122,056,447 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4847:Prkcb
|
UTSW |
7 |
122,167,372 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5220:Prkcb
|
UTSW |
7 |
121,888,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5487:Prkcb
|
UTSW |
7 |
122,199,948 (GRCm39) |
nonsense |
probably null |
|
|
R5599:Prkcb
|
UTSW |
7 |
122,181,701 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5946:Prkcb
|
UTSW |
7 |
122,143,926 (GRCm39) |
missense |
probably benign |
|
|
R6257:Prkcb
|
UTSW |
7 |
122,167,386 (GRCm39) |
missense |
probably benign |
|
|
R6590:Prkcb
|
UTSW |
7 |
121,888,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6690:Prkcb
|
UTSW |
7 |
121,888,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6763:Prkcb
|
UTSW |
7 |
122,193,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7289:Prkcb
|
UTSW |
7 |
122,143,910 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7414:Prkcb
|
UTSW |
7 |
122,167,450 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7466:Prkcb
|
UTSW |
7 |
122,116,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Prkcb
|
UTSW |
7 |
122,167,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8283:Prkcb
|
UTSW |
7 |
122,199,948 (GRCm39) |
nonsense |
probably null |
|
|
R9072:Prkcb
|
UTSW |
7 |
122,127,771 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9483:Prkcb
|
UTSW |
7 |
122,181,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9670:Prkcb
|
UTSW |
7 |
122,233,070 (GRCm39) |
nonsense |
probably null |
|
|
V7581:Prkcb
|
UTSW |
7 |
122,127,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0061:Prkcb
|
UTSW |
7 |
122,056,529 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Prkcb
|
UTSW |
7 |
122,167,419 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGGTCAAGTAGCAAAGGTC -3'
(R):5'- TGCGCTTGAATGACAGAAATG -3'
Sequencing Primer
(F):5'- GTAGCAAAGGTCATGATAATTTTGC -3'
(R):5'- CGCTTGAATGACAGAAATGGAGGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation