Incidental Mutation 'R6772:Camk2a'
ID |
532223 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk2a
|
Ensembl Gene |
ENSMUSG00000024617 |
Gene Name |
calcium/calmodulin-dependent protein kinase II alpha |
Synonyms |
alpha-CaMKII |
MMRRC Submission |
044888-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.280)
|
Stock # |
R6772 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
61058704-61121224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61102092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 332
(S332P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025519
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025519]
[ENSMUST00000039904]
[ENSMUST00000102888]
[ENSMUST00000115295]
|
AlphaFold |
P11798 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025519
AA Change: S332P
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000025519 Gene: ENSMUSG00000024617 AA Change: S332P
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 benign
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
AA Change: S43P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000110950 Gene: ENSMUSG00000024617 AA Change: S43P
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
97% (36/37) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
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 |
|
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'- TTAGATCGGTAGAGCCAGGTACAG -3'
(R):5'- CACCTTTGGACTGGAGGAAG -3'
Sequencing Primer
(F):5'- TACAGGCTTGAGGACCCAG -3'
(R):5'- CCATGGAGTTGGAGGTGTCAAC -3'
|
Posted On |
2018-08-29 |