Incidental Mutation 'IGL01707:Camk2a'
| ID |
104656 |
| 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: 0.266)
|
| Stock # |
IGL01707
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61058704-61121224 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 61093122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025519]
[ENSMUST00000039904]
[ENSMUST00000102888]
[ENSMUST00000115295]
|
| AlphaFold |
P11798 |
| PDB Structure |
CRYSTAL STRUCTURE OF CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000025519
|
| SMART Domains |
Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617
| 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 null
Transcript: ENSMUST00000102888
|
| SMART Domains |
Protein: ENSMUSP00000099952
Gene: ENSMUSG00000024617
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184354
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,027,879 (GRCm39) |
R404L |
probably damaging |
Het |
| Acot6 |
C |
A |
12: 84,147,763 (GRCm39) |
S6R |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,301 (GRCm39) |
Q222L |
probably benign |
Het |
| Adgre5 |
T |
A |
8: 84,450,976 (GRCm39) |
T725S |
probably damaging |
Het |
| Agbl3 |
A |
T |
6: 34,816,389 (GRCm39) |
K766N |
possibly damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,273 (GRCm39) |
S1387P |
probably damaging |
Het |
| Cd209d |
T |
C |
8: 3,928,296 (GRCm39) |
I30V |
probably benign |
Het |
| Ces1d |
A |
T |
8: 93,916,178 (GRCm39) |
S150T |
possibly damaging |
Het |
| Cox4i2 |
T |
C |
2: 152,598,956 (GRCm39) |
Y38H |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,276,798 (GRCm39) |
Y867H |
possibly damaging |
Het |
| Dbh |
G |
A |
2: 27,055,556 (GRCm39) |
C10Y |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,106,178 (GRCm39) |
V332A |
probably damaging |
Het |
| Gnb3 |
G |
T |
6: 124,816,652 (GRCm39) |
A11E |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,814,935 (GRCm39) |
R2725G |
probably damaging |
Het |
| Kdm4c |
C |
T |
4: 74,255,164 (GRCm39) |
L573F |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,505,096 (GRCm39) |
Q3404L |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,791,909 (GRCm39) |
H231R |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,895,357 (GRCm39) |
D371V |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,623,440 (GRCm39) |
I705V |
probably benign |
Het |
| Nutm2 |
A |
T |
13: 50,623,753 (GRCm39) |
N150I |
probably damaging |
Het |
| Or51a7 |
T |
C |
7: 102,615,126 (GRCm39) |
I273T |
probably damaging |
Het |
| Or51aa5 |
A |
T |
7: 103,167,141 (GRCm39) |
I150N |
probably damaging |
Het |
| Phb2 |
A |
G |
6: 124,690,998 (GRCm39) |
Q52R |
probably benign |
Het |
| Plekhh1 |
T |
A |
12: 79,125,738 (GRCm39) |
V1258E |
probably benign |
Het |
| Pou2f1 |
A |
T |
1: 165,742,685 (GRCm39) |
N69K |
probably damaging |
Het |
| Rapsn |
T |
A |
2: 90,873,585 (GRCm39) |
M297K |
probably benign |
Het |
| Senp5 |
A |
C |
16: 31,808,588 (GRCm39) |
V195G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,517 (GRCm39) |
V68A |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,612,631 (GRCm39) |
R1301S |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,837,864 (GRCm39) |
Y1600C |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,864 (GRCm39) |
I864T |
possibly damaging |
Het |
| Wif1 |
T |
A |
10: 120,919,890 (GRCm39) |
|
probably null |
Het |
| Zdhhc15 |
G |
A |
X: 103,609,422 (GRCm39) |
R208C |
probably damaging |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation