Incidental Mutation 'R2159:Camk2a'
| ID |
235084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk2a
|
| Ensembl Gene |
ENSMUSG00000024617 |
| Gene Name |
calcium/calmodulin-dependent protein kinase II alpha |
| Synonyms |
alpha-CaMKII |
| MMRRC Submission |
040162-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.280)
|
| Stock # |
R2159 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61058704-61121224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61090257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 199
(C199Y)
|
| 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: C199Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617
AA Change: C199Y
| 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: C199Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099952
Gene: ENSMUSG00000024617
AA Change: C199Y
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
G |
A |
12: 81,607,241 (GRCm39) |
P174S |
probably benign |
Het |
| Aida |
C |
T |
1: 183,103,234 (GRCm39) |
P185S |
probably benign |
Het |
| Alg11 |
T |
G |
8: 22,555,861 (GRCm39) |
I374R |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,688,030 (GRCm39) |
I229V |
probably benign |
Het |
| Apob |
A |
T |
12: 8,060,081 (GRCm39) |
L2821F |
probably benign |
Het |
| Atp10b |
C |
T |
11: 43,042,680 (GRCm39) |
T80I |
possibly damaging |
Het |
| BC024139 |
T |
C |
15: 76,005,688 (GRCm39) |
H478R |
probably damaging |
Het |
| Btbd1 |
A |
T |
7: 81,450,804 (GRCm39) |
D325E |
possibly damaging |
Het |
| Casp3 |
A |
G |
8: 47,087,323 (GRCm39) |
D90G |
probably damaging |
Het |
| Ccnt2 |
A |
G |
1: 127,702,891 (GRCm39) |
H71R |
probably benign |
Het |
| Cdk2ap1 |
G |
A |
5: 124,486,667 (GRCm39) |
R65* |
probably null |
Het |
| Cebpb |
G |
T |
2: 167,531,173 (GRCm39) |
A78S |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,682,606 (GRCm39) |
F1613L |
unknown |
Het |
| Cpd |
T |
C |
11: 76,688,467 (GRCm39) |
D935G |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
A |
G |
13: 104,940,837 (GRCm39) |
I174T |
probably damaging |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,378 (GRCm39) |
R331L |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,252,691 (GRCm39) |
T795A |
probably benign |
Het |
| Eif2ak2 |
A |
G |
17: 79,181,447 (GRCm39) |
V100A |
possibly damaging |
Het |
| Foxa3 |
A |
G |
7: 18,748,109 (GRCm39) |
V339A |
probably benign |
Het |
| Gp2 |
T |
C |
7: 119,051,507 (GRCm39) |
D236G |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Gzmd |
T |
A |
14: 56,368,153 (GRCm39) |
H102L |
probably damaging |
Het |
| Klk1b1 |
A |
T |
7: 43,619,857 (GRCm39) |
I139F |
probably damaging |
Het |
| Lcmt2 |
G |
A |
2: 120,969,766 (GRCm39) |
P439L |
probably damaging |
Het |
| Loxl4 |
C |
T |
19: 42,588,446 (GRCm39) |
A570T |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,750,124 (GRCm39) |
H674Q |
probably damaging |
Het |
| Mybpc3 |
A |
T |
2: 90,955,715 (GRCm39) |
K583M |
probably damaging |
Het |
| Ncoa6 |
G |
T |
2: 155,249,633 (GRCm39) |
P1224T |
probably damaging |
Het |
| Nostrin |
A |
G |
2: 69,011,266 (GRCm39) |
|
probably null |
Het |
| Or13e8 |
T |
C |
4: 43,697,110 (GRCm39) |
H21R |
probably benign |
Het |
| Or4c3 |
A |
T |
2: 89,851,882 (GRCm39) |
V176E |
probably damaging |
Het |
| Oxsr1 |
A |
C |
9: 119,133,880 (GRCm39) |
D58E |
possibly damaging |
Het |
| Parm1 |
A |
G |
5: 91,760,923 (GRCm39) |
Y265C |
probably damaging |
Het |
| Phf10 |
C |
T |
17: 15,172,926 (GRCm39) |
E304K |
probably damaging |
Het |
| Prmt5 |
T |
C |
14: 54,752,795 (GRCm39) |
T139A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptp4a3 |
A |
G |
15: 73,623,865 (GRCm39) |
T32A |
probably benign |
Het |
| Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,752 (GRCm39) |
L558S |
possibly damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,005,225 (GRCm39) |
D80G |
probably damaging |
Het |
| Sec24a |
T |
G |
11: 51,603,177 (GRCm39) |
H757P |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,874,571 (GRCm39) |
N129D |
probably damaging |
Het |
| Serpini1 |
A |
G |
3: 75,531,251 (GRCm39) |
T323A |
probably benign |
Het |
| Setd1a |
G |
A |
7: 127,384,661 (GRCm39) |
R504H |
possibly damaging |
Het |
| Sftpb |
T |
C |
6: 72,286,770 (GRCm39) |
C226R |
probably damaging |
Het |
| Sp8 |
T |
C |
12: 118,812,441 (GRCm39) |
S99P |
possibly damaging |
Het |
| Srgap3 |
A |
G |
6: 112,748,339 (GRCm39) |
F438L |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,267,156 (GRCm39) |
Y365H |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,673,896 (GRCm39) |
Q1263R |
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Troap |
G |
T |
15: 98,975,467 (GRCm39) |
A184S |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,729,671 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
C |
A |
17: 20,689,363 (GRCm39) |
A531S |
probably benign |
Het |
| Vmn2r12 |
T |
A |
5: 109,239,340 (GRCm39) |
I408F |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,169 (GRCm39) |
E226V |
probably benign |
Het |
| Vmo1 |
A |
G |
11: 70,404,608 (GRCm39) |
F131S |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,603,304 (GRCm39) |
F885L |
probably damaging |
Het |
| Wdpcp |
A |
T |
11: 21,807,476 (GRCm39) |
M618L |
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,070,715 (GRCm39) |
E1072G |
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 |
|
|
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'- ACAGTACAACCCCAGCTTTTG -3'
(R):5'- TACAGGCGATGCTGGTCTTC -3'
Sequencing Primer
(F):5'- TGTGTTCTCCAGCTCCAGGG -3'
(R):5'- TGGTCTTCATCCCAGAACGG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation