Incidental Mutation 'R6977:Camk2a'
ID |
542538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk2a
|
Ensembl Gene |
ENSMUSG00000024617 |
Gene Name |
calcium/calmodulin-dependent protein kinase II alpha |
Synonyms |
alpha-CaMKII |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.266)
|
Stock # |
R6977 (G1)
|
Quality Score |
223.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
61058704-61121224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61093076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 301
(G301E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025519
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025519]
[ENSMUST00000039904]
[ENSMUST00000102888]
[ENSMUST00000115295]
|
AlphaFold |
P11798 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025519
AA Change: G301E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025519 Gene: ENSMUSG00000024617 AA Change: G301E
Domain | Start | End | E-Value | Type |
S_TKc
|
13 |
271 |
3.59e-107 |
SMART |
low complexity region
|
314 |
344 |
N/A |
INTRINSIC |
Pfam:CaMKII_AD
|
357 |
484 |
6.7e-68 |
PFAM |
Pfam:DUF4440
|
361 |
475 |
2.6e-10 |
PFAM |
Pfam:SnoaL_3
|
361 |
485 |
6e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000039904
|
SMART Domains |
Protein: ENSMUSP00000048325 Gene: ENSMUSG00000024617
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:CaMKII_AD
|
57 |
184 |
1.1e-67 |
PFAM |
Pfam:DUF4440
|
61 |
175 |
1e-12 |
PFAM |
Pfam:SnoaL_3
|
61 |
185 |
4.9e-13 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102888
AA Change: G301E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099952 Gene: ENSMUSG00000024617 AA Change: G301E
Domain | Start | End | E-Value | Type |
S_TKc
|
13 |
271 |
3.59e-107 |
SMART |
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
Pfam:CaMKII_AD
|
346 |
473 |
1.2e-66 |
PFAM |
Pfam:DUF4440
|
350 |
464 |
4.5e-12 |
PFAM |
Pfam:SnoaL_3
|
350 |
474 |
2.5e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115295
|
SMART Domains |
Protein: ENSMUSP00000110950 Gene: ENSMUSG00000024617
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:CaMKII_AD
|
68 |
195 |
3.8e-67 |
PFAM |
Pfam:DUF4440
|
72 |
186 |
1.7e-12 |
PFAM |
Pfam:SnoaL_3
|
72 |
196 |
9.5e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137805
|
SMART Domains |
Protein: ENSMUSP00000123480 Gene: ENSMUSG00000024617
Domain | Start | End | E-Value | Type |
Pfam:Pkinase_Tyr
|
20 |
176 |
1.8e-22 |
PFAM |
Pfam:Pkinase
|
21 |
176 |
3.7e-43 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008] PHENOTYPE: Homozygous targeted mutants display deficient long-term hippocampal potentiation (LTP) and specific impairment in spatial learning; heterozygotes show decreased fear response and increased defensive aggression, which is more pronounced in homozygotes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
G |
A |
13: 59,839,394 (GRCm39) |
S17L |
possibly damaging |
Het |
Acap2 |
G |
T |
16: 30,936,079 (GRCm39) |
T336K |
probably damaging |
Het |
Angptl7 |
A |
T |
4: 148,581,850 (GRCm39) |
W179R |
probably damaging |
Het |
Atp9b |
A |
G |
18: 80,796,317 (GRCm39) |
F909L |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,486 (GRCm39) |
Y66* |
probably null |
Het |
C8b |
A |
G |
4: 104,644,193 (GRCm39) |
T287A |
possibly damaging |
Het |
Ccdc186 |
A |
G |
19: 56,787,219 (GRCm39) |
M583T |
probably benign |
Het |
Cd55b |
T |
A |
1: 130,347,528 (GRCm39) |
K94N |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,704,914 (GRCm39) |
S466P |
probably benign |
Het |
Cep152 |
A |
G |
2: 125,410,742 (GRCm39) |
|
probably null |
Het |
Cep70 |
A |
G |
9: 99,173,729 (GRCm39) |
D420G |
probably damaging |
Het |
Cnih4 |
T |
C |
1: 180,989,713 (GRCm39) |
S48P |
possibly damaging |
Het |
Cpne8 |
T |
C |
15: 90,381,294 (GRCm39) |
K507E |
probably benign |
Het |
Cyp2b23 |
T |
C |
7: 26,380,745 (GRCm39) |
Y160C |
possibly damaging |
Het |
Dnah9 |
C |
A |
11: 65,998,735 (GRCm39) |
M1104I |
probably benign |
Het |
Fam135a |
T |
A |
1: 24,093,179 (GRCm39) |
N149I |
probably damaging |
Het |
Fbxl4 |
A |
T |
4: 22,376,930 (GRCm39) |
Q122L |
probably benign |
Het |
Gm11232 |
T |
C |
4: 71,676,178 (GRCm39) |
|
probably benign |
Het |
Gm5901 |
A |
G |
7: 105,026,367 (GRCm39) |
Y45C |
probably benign |
Het |
Gsap |
A |
T |
5: 21,476,219 (GRCm39) |
I553F |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,436,530 (GRCm39) |
F631S |
probably damaging |
Het |
Kics2 |
A |
G |
10: 121,581,371 (GRCm39) |
H124R |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,865,040 (GRCm39) |
D544G |
probably damaging |
Het |
Klc2 |
G |
A |
19: 5,159,393 (GRCm39) |
R552C |
probably damaging |
Het |
Lamp1 |
T |
C |
8: 13,223,661 (GRCm39) |
V293A |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,556,633 (GRCm39) |
D3220V |
unknown |
Het |
Myb |
A |
T |
10: 21,028,551 (GRCm39) |
I104K |
probably damaging |
Het |
Mycbp2 |
C |
A |
14: 103,392,342 (GRCm39) |
R3227L |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,148,472 (GRCm39) |
L1053Q |
probably damaging |
Het |
Nelfe |
T |
A |
17: 35,073,688 (GRCm39) |
V316E |
probably damaging |
Het |
Noxred1 |
T |
C |
12: 87,268,091 (GRCm39) |
I347V |
probably null |
Het |
Or8g50 |
A |
G |
9: 39,648,330 (GRCm39) |
Y73C |
probably benign |
Het |
Plekha7 |
A |
G |
7: 115,735,202 (GRCm39) |
V1033A |
probably benign |
Het |
Plekhh1 |
G |
C |
12: 79,112,491 (GRCm39) |
W589C |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,517,272 (GRCm39) |
F658L |
probably damaging |
Het |
Prss55 |
A |
G |
14: 64,316,785 (GRCm39) |
M119T |
probably damaging |
Het |
Rab28 |
G |
A |
5: 41,855,735 (GRCm39) |
Q87* |
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sdr16c6 |
A |
T |
4: 4,076,865 (GRCm39) |
F11L |
probably benign |
Het |
Serpinb5 |
T |
G |
1: 106,800,077 (GRCm39) |
V89G |
probably benign |
Het |
Slc12a9 |
A |
T |
5: 137,314,075 (GRCm39) |
V628E |
probably damaging |
Het |
Slc25a34 |
G |
A |
4: 141,347,809 (GRCm39) |
R291C |
probably damaging |
Het |
Slmap |
C |
T |
14: 26,254,574 (GRCm39) |
R36H |
probably damaging |
Het |
Sybu |
A |
G |
15: 44,541,091 (GRCm39) |
S324P |
probably benign |
Het |
Syk |
A |
T |
13: 52,787,094 (GRCm39) |
M363L |
probably benign |
Het |
Tecpr2 |
T |
C |
12: 110,906,200 (GRCm39) |
V934A |
probably benign |
Het |
Thpo |
A |
G |
16: 20,544,433 (GRCm39) |
L200P |
probably damaging |
Het |
Tiam2 |
T |
A |
17: 3,568,934 (GRCm39) |
S1693R |
probably damaging |
Het |
Usp48 |
A |
G |
4: 137,377,671 (GRCm39) |
D232G |
probably damaging |
Het |
Wasf1 |
A |
G |
10: 40,802,581 (GRCm39) |
S79G |
probably damaging |
Het |
Zfp90 |
G |
T |
8: 107,151,948 (GRCm39) |
D554Y |
probably damaging |
Het |
Zfp90 |
A |
T |
8: 107,151,949 (GRCm39) |
D554V |
probably damaging |
Het |
Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Camk2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01071:Camk2a
|
APN |
18 |
61,113,228 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01707:Camk2a
|
APN |
18 |
61,093,122 (GRCm39) |
splice site |
probably null |
|
IGL02117:Camk2a
|
APN |
18 |
61,111,061 (GRCm39) |
missense |
probably damaging |
0.99 |
frantic
|
UTSW |
18 |
61,097,000 (GRCm39) |
nonsense |
probably null |
|
R0003:Camk2a
|
UTSW |
18 |
61,093,079 (GRCm39) |
missense |
probably damaging |
0.99 |
R0373:Camk2a
|
UTSW |
18 |
61,091,310 (GRCm39) |
missense |
probably damaging |
0.98 |
R0589:Camk2a
|
UTSW |
18 |
61,097,036 (GRCm39) |
critical splice donor site |
probably null |
|
R1135:Camk2a
|
UTSW |
18 |
61,090,468 (GRCm39) |
critical splice donor site |
probably null |
|
R1199:Camk2a
|
UTSW |
18 |
61,085,396 (GRCm39) |
nonsense |
probably null |
|
R2159:Camk2a
|
UTSW |
18 |
61,090,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Camk2a
|
UTSW |
18 |
61,097,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R4022:Camk2a
|
UTSW |
18 |
61,097,000 (GRCm39) |
nonsense |
probably null |
|
R4662:Camk2a
|
UTSW |
18 |
61,074,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Camk2a
|
UTSW |
18 |
61,088,696 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4859:Camk2a
|
UTSW |
18 |
61,076,246 (GRCm39) |
intron |
probably benign |
|
R5119:Camk2a
|
UTSW |
18 |
61,076,208 (GRCm39) |
intron |
probably benign |
|
R5291:Camk2a
|
UTSW |
18 |
61,090,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R5503:Camk2a
|
UTSW |
18 |
61,111,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R5874:Camk2a
|
UTSW |
18 |
61,076,272 (GRCm39) |
intron |
probably benign |
|
R5997:Camk2a
|
UTSW |
18 |
61,111,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R6109:Camk2a
|
UTSW |
18 |
61,076,306 (GRCm39) |
nonsense |
probably null |
|
R6772:Camk2a
|
UTSW |
18 |
61,102,092 (GRCm39) |
missense |
probably benign |
0.21 |
R6939:Camk2a
|
UTSW |
18 |
61,091,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R6993:Camk2a
|
UTSW |
18 |
61,076,247 (GRCm39) |
intron |
probably benign |
|
R7247:Camk2a
|
UTSW |
18 |
61,076,277 (GRCm39) |
missense |
unknown |
|
R7625:Camk2a
|
UTSW |
18 |
61,085,412 (GRCm39) |
missense |
probably damaging |
0.97 |
R7900:Camk2a
|
UTSW |
18 |
61,090,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R9131:Camk2a
|
UTSW |
18 |
61,076,327 (GRCm39) |
missense |
unknown |
|
R9513:Camk2a
|
UTSW |
18 |
61,088,607 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9794:Camk2a
|
UTSW |
18 |
61,097,031 (GRCm39) |
missense |
probably benign |
|
X0020:Camk2a
|
UTSW |
18 |
61,093,109 (GRCm39) |
missense |
possibly damaging |
0.89 |
X0026:Camk2a
|
UTSW |
18 |
61,085,208 (GRCm39) |
missense |
possibly damaging |
0.87 |
Z1088:Camk2a
|
UTSW |
18 |
61,076,222 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGATGTCTGTCTCAAGAGCTG -3'
(R):5'- TTGTGGTGGGTGAGCAAAACC -3'
Sequencing Primer
(F):5'- CTCAAGAGCTGTGCCTGTCAAAG -3'
(R):5'- TGAGCAAAACCTAGATCCTGGTGTC -3'
|
Posted On |
2018-11-28 |