Incidental Mutation 'IGL02117:Camk2a'
| ID |
280431 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.280)
|
| Stock # |
IGL02117
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61058704-61121224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61111061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 83
(I83M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025519]
[ENSMUST00000039904]
[ENSMUST00000102888]
[ENSMUST00000115295]
|
| AlphaFold |
P11798 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025519
AA Change: I372M
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617
AA Change: I372M
| 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 |
possibly damaging
Transcript: ENSMUST00000039904
AA Change: I72M
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048325
Gene: ENSMUSG00000024617
AA Change: I72M
| 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 |
possibly damaging
Transcript: ENSMUST00000102888
AA Change: I361M
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099952
Gene: ENSMUSG00000024617
AA Change: I361M
| 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 damaging
Transcript: ENSMUST00000115295
AA Change: I83M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110950
Gene: ENSMUSG00000024617
AA Change: I83M
| 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 |
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
A |
2: 151,315,466 (GRCm39) |
M71L |
probably benign |
Het |
| Abcb11 |
A |
G |
2: 69,154,169 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
T |
C |
4: 126,410,645 (GRCm39) |
T249A |
probably benign |
Het |
| Ahr |
A |
T |
12: 35,562,922 (GRCm39) |
C92* |
probably null |
Het |
| Arhgap17 |
G |
A |
7: 122,885,996 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,420,126 (GRCm39) |
T992K |
unknown |
Het |
| Ccdc154 |
T |
C |
17: 25,386,792 (GRCm39) |
|
probably null |
Het |
| Chtf18 |
T |
C |
17: 25,941,177 (GRCm39) |
H607R |
possibly damaging |
Het |
| Col25a1 |
T |
C |
3: 130,313,422 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
C |
T |
1: 24,276,574 (GRCm39) |
Q530* |
probably null |
Het |
| Cryl1 |
G |
T |
14: 57,523,904 (GRCm39) |
D219E |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,300,781 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
C |
A |
17: 46,851,301 (GRCm39) |
R373L |
probably benign |
Het |
| Exo1 |
A |
G |
1: 175,721,309 (GRCm39) |
Y316C |
possibly damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,187,465 (GRCm39) |
V408M |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,347,185 (GRCm39) |
S4792C |
possibly damaging |
Het |
| Hps5 |
A |
G |
7: 46,432,940 (GRCm39) |
F260S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,477 (GRCm39) |
S339P |
probably benign |
Het |
| Ist1 |
A |
T |
8: 110,405,584 (GRCm39) |
L152Q |
probably damaging |
Het |
| Marco |
A |
G |
1: 120,418,683 (GRCm39) |
V190A |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,709,364 (GRCm39) |
V1711A |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,644 (GRCm39) |
Y179C |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,742 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
G |
T |
7: 47,671,371 (GRCm39) |
C125* |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,298,234 (GRCm39) |
|
probably benign |
Het |
| Myot |
C |
A |
18: 44,488,177 (GRCm39) |
R441S |
probably benign |
Het |
| Or11g7 |
A |
G |
14: 50,691,399 (GRCm39) |
R297G |
possibly damaging |
Het |
| Paf1 |
A |
G |
7: 28,098,115 (GRCm39) |
|
probably benign |
Het |
| Pde11a |
A |
G |
2: 75,821,606 (GRCm39) |
L891P |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,596,460 (GRCm39) |
I135N |
probably damaging |
Het |
| Rap1gap |
C |
T |
4: 137,454,355 (GRCm39) |
T646M |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,088,087 (GRCm39) |
D229G |
possibly damaging |
Het |
| Rhobtb3 |
C |
T |
13: 76,025,547 (GRCm39) |
S523N |
probably damaging |
Het |
| Setd7 |
A |
T |
3: 51,428,826 (GRCm39) |
Y335N |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Socs4 |
T |
C |
14: 47,528,264 (GRCm39) |
Y400H |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,909,479 (GRCm39) |
H192L |
probably damaging |
Het |
| Ssh1 |
A |
T |
5: 114,084,541 (GRCm39) |
C566* |
probably null |
Het |
| Stap1 |
T |
G |
5: 86,234,552 (GRCm39) |
I98S |
possibly damaging |
Het |
| Tgs1 |
C |
T |
4: 3,585,836 (GRCm39) |
H238Y |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,275 (GRCm39) |
Y56C |
probably benign |
Het |
| Tssk2 |
A |
G |
16: 17,717,653 (GRCm39) |
E352G |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,874 (GRCm39) |
V625D |
probably benign |
Het |
| Wbp1l |
T |
C |
19: 46,632,876 (GRCm39) |
Y75H |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,228,077 (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 |
|
|
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 |
|
R6977:Camk2a
|
UTSW |
18 |
61,093,076 (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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation