Incidental Mutation 'R1135:Camk2a'
| ID |
94945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk2a
|
| Ensembl Gene |
ENSMUSG00000024617 |
| Gene Name |
calcium/calmodulin-dependent protein kinase II alpha |
| Synonyms |
alpha-CaMKII |
| MMRRC Submission |
039208-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
R1135 (G1)
|
| Quality Score |
167 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61058704-61121224 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 61090468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025519]
[ENSMUST00000102888]
|
| 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 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: 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: ENSMUST00000183978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184354
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
G |
T |
4: 148,029,115 (GRCm39) |
V362L |
probably benign |
Het |
| Ak5 |
T |
A |
3: 152,359,299 (GRCm39) |
L166F |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,839,498 (GRCm39) |
I643N |
probably damaging |
Het |
| Fibin |
G |
A |
2: 110,192,567 (GRCm39) |
H192Y |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,972,384 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
G |
1: 128,221,861 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
G |
9: 37,434,008 (GRCm39) |
I83V |
probably damaging |
Het |
| Myh10 |
A |
T |
11: 68,698,023 (GRCm39) |
M1622L |
probably benign |
Het |
| Nkx2-4 |
G |
T |
2: 146,926,328 (GRCm39) |
S178* |
probably null |
Het |
| Nox4 |
C |
T |
7: 86,972,997 (GRCm39) |
P335S |
probably damaging |
Het |
| Rab3gap2 |
G |
A |
1: 185,008,140 (GRCm39) |
R1085Q |
possibly damaging |
Het |
| Skint10 |
C |
T |
4: 112,568,660 (GRCm39) |
W352* |
probably null |
Het |
| Srsf4 |
T |
G |
4: 131,627,380 (GRCm39) |
|
probably benign |
Het |
| Sytl1 |
C |
T |
4: 132,984,281 (GRCm39) |
G274D |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,437,952 (GRCm39) |
I459N |
probably damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,372 (GRCm39) |
L204P |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,159 (GRCm39) |
T1145A |
probably benign |
Het |
| Wnk2 |
G |
A |
13: 49,230,034 (GRCm39) |
P830L |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTGTGGTAAGTCCAATCCG -3'
(R):5'- ACTCGTGTCTCACACGCTAAGC -3'
Sequencing Primer
(F):5'- GGAAGCCCTGTTCGTCTC -3'
(R):5'- tgggaggtgagggcagg -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation