Incidental Mutation 'R7900:Camk2a'
| ID |
609964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk2a
|
| Ensembl Gene |
ENSMUSG00000024617 |
| Gene Name |
calcium/calmodulin-dependent protein kinase II alpha |
| Synonyms |
alpha-CaMKII |
| MMRRC Submission |
045952-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
R7900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61058704-61121224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61090438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 222
(Y222C)
|
| 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 damaging
Transcript: ENSMUST00000025519
AA Change: Y222C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617
AA Change: Y222C
| 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 damaging
Transcript: ENSMUST00000102888
AA Change: Y222C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099952
Gene: ENSMUSG00000024617
AA Change: Y222C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Adamtsl5 |
A |
G |
10: 80,177,735 (GRCm39) |
F309S |
probably damaging |
Het |
| Ankle1 |
C |
T |
8: 71,860,061 (GRCm39) |
T213I |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,958,751 (GRCm39) |
S528P |
probably benign |
Het |
| Cnst |
A |
G |
1: 179,450,453 (GRCm39) |
D639G |
probably damaging |
Het |
| Ctbp2 |
A |
C |
7: 132,616,328 (GRCm39) |
S202R |
probably benign |
Het |
| Cwf19l2 |
G |
T |
9: 3,460,107 (GRCm39) |
L798F |
probably damaging |
Het |
| Cyp11a1 |
T |
A |
9: 57,923,667 (GRCm39) |
V124E |
possibly damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,266,594 (GRCm39) |
|
probably null |
Het |
| Dlst |
G |
T |
12: 85,177,292 (GRCm39) |
R346L |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,409,254 (GRCm39) |
S375P |
probably damaging |
Het |
| Dnm3 |
T |
A |
1: 162,182,940 (GRCm39) |
Y125F |
probably benign |
Het |
| Dock9 |
C |
T |
14: 121,783,491 (GRCm39) |
A2011T |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,719,984 (GRCm39) |
|
probably null |
Het |
| Egln1 |
A |
T |
8: 125,640,879 (GRCm39) |
I319N |
possibly damaging |
Het |
| Gata3 |
T |
A |
2: 9,863,461 (GRCm39) |
N351I |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,690,920 (GRCm39) |
N361S |
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,376,659 (GRCm39) |
T546A |
probably damaging |
Het |
| Gpihbp1 |
T |
C |
15: 75,469,791 (GRCm39) |
F169L |
probably benign |
Het |
| Gpnmb |
A |
T |
6: 49,027,400 (GRCm39) |
I375L |
possibly damaging |
Het |
| Itpka |
A |
T |
2: 119,580,994 (GRCm39) |
T381S |
probably benign |
Het |
| Lhx4 |
T |
C |
1: 155,617,709 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
T |
C |
6: 34,106,129 (GRCm39) |
L718P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nr1d1 |
T |
A |
11: 98,660,537 (GRCm39) |
T477S |
probably benign |
Het |
| Nxnl1 |
A |
T |
8: 72,019,170 (GRCm39) |
D18E |
probably damaging |
Het |
| Onecut2 |
G |
T |
18: 64,474,658 (GRCm39) |
R403L |
probably damaging |
Het |
| Or51v14 |
T |
C |
7: 103,260,900 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Or5an1 |
T |
A |
19: 12,260,705 (GRCm39) |
C98S |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,258,858 (GRCm39) |
T1177A |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,587,269 (GRCm39) |
V405A |
probably benign |
Het |
| Ranbp1 |
T |
C |
16: 18,063,161 (GRCm39) |
T72A |
probably damaging |
Het |
| Retnla |
A |
C |
16: 48,663,977 (GRCm39) |
R90S |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,514,669 (GRCm39) |
I385N |
probably damaging |
Het |
| Slc6a19 |
C |
T |
13: 73,848,583 (GRCm39) |
R57H |
probably damaging |
Het |
| Smurf1 |
T |
C |
5: 144,836,183 (GRCm39) |
D110G |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,110,187 (GRCm39) |
Y975C |
probably damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,754,599 (GRCm39) |
N176I |
possibly damaging |
Het |
| Tecrl |
A |
C |
5: 83,427,188 (GRCm39) |
V320G |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,924,973 (GRCm39) |
|
probably null |
Het |
| Tpd52l1 |
T |
A |
10: 31,214,178 (GRCm39) |
|
probably null |
Het |
| Trbv2 |
A |
G |
6: 41,024,908 (GRCm39) |
Y108C |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,639,418 (GRCm39) |
M1689V |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,266,597 (GRCm39) |
Y1855C |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,384,354 (GRCm39) |
S721R |
possibly damaging |
Het |
| Vwf |
G |
A |
6: 125,605,439 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
A |
10: 83,409,637 (GRCm39) |
|
probably null |
Het |
| Yeats4 |
G |
A |
10: 117,056,464 (GRCm39) |
H71Y |
possibly damaging |
Het |
| Zbtb38 |
A |
C |
9: 96,570,989 (GRCm39) |
L32V |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 725,519 (GRCm39) |
T749A |
possibly 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 |
|
|
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 |
|
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'- ATACCTCTCCCCAGAAGTGC -3'
(R):5'- TAATCACTAGGCACCATGTGG -3'
Sequencing Primer
(F):5'- TGCTGAGGAAGGACCCGTAC -3'
(R):5'- CATGTGGTCATAGCCTGGCTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation