Incidental Mutation 'R0628:Camk2d'
ID |
57685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk2d
|
Ensembl Gene |
ENSMUSG00000053819 |
Gene Name |
calcium/calmodulin-dependent protein kinase II, delta |
Synonyms |
CaMK II, 8030469K03Rik, 2810011D23Rik |
MMRRC Submission |
038817-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R0628 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 126604273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066452]
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000171289]
[ENSMUST00000163226]
[ENSMUST00000134466]
[ENSMUST00000145454]
[ENSMUST00000199300]
[ENSMUST00000200171]
|
AlphaFold |
Q6PHZ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066452
|
SMART Domains |
Protein: ENSMUSP00000066996 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
Pfam:CaMKII_AD
|
356 |
483 |
9.4e-67 |
PFAM |
Pfam:DUF4440
|
360 |
474 |
5.4e-13 |
PFAM |
Pfam:SnoaL_3
|
360 |
486 |
3.5e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066466
|
SMART Domains |
Protein: ENSMUSP00000063359 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
Pfam:CaMKII_AD
|
346 |
473 |
7.4e-67 |
PFAM |
Pfam:DUF4440
|
350 |
464 |
4.7e-13 |
PFAM |
Pfam:SnoaL_3
|
350 |
476 |
3e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106399
|
SMART Domains |
Protein: ENSMUSP00000102007 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
Pfam:CaMKII_AD
|
357 |
484 |
3.5e-67 |
PFAM |
Pfam:DUF4440
|
361 |
475 |
5.4e-13 |
PFAM |
Pfam:SnoaL_3
|
361 |
487 |
3e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106400
|
SMART Domains |
Protein: ENSMUSP00000102008 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
Pfam:CaMKII_AD
|
346 |
473 |
4.7e-67 |
PFAM |
Pfam:DUF4440
|
350 |
464 |
3.2e-13 |
PFAM |
Pfam:SnoaL_3
|
350 |
476 |
2.1e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106401
|
SMART Domains |
Protein: ENSMUSP00000102009 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
1.33e-110 |
SMART |
Pfam:CaMKII_AD
|
380 |
507 |
3.8e-67 |
PFAM |
Pfam:DUF4440
|
384 |
498 |
5.8e-13 |
PFAM |
Pfam:SnoaL_3
|
384 |
510 |
3.2e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106402
|
SMART Domains |
Protein: ENSMUSP00000102010 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
Pfam:CaMKII_AD
|
380 |
507 |
1.1e-66 |
PFAM |
Pfam:DUF4440
|
384 |
498 |
8.1e-13 |
PFAM |
Pfam:SnoaL_3
|
384 |
510 |
5.3e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129293
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171289
|
SMART Domains |
Protein: ENSMUSP00000129999 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
1.33e-110 |
SMART |
Pfam:CaMKII_AD
|
380 |
507 |
3.3e-63 |
PFAM |
Pfam:DUF4440
|
384 |
498 |
3.2e-12 |
PFAM |
Pfam:SnoaL_3
|
384 |
509 |
8.7e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198487
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167985
|
SMART Domains |
Protein: ENSMUSP00000126207 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
Pfam:CaMKII_AD
|
59 |
130 |
2.2e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163226
|
SMART Domains |
Protein: ENSMUSP00000133019 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131869
|
SMART Domains |
Protein: ENSMUSP00000126412 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
1 |
109 |
5.1e-26 |
PFAM |
Pfam:Pkinase_Tyr
|
3 |
111 |
4.5e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170149
|
SMART Domains |
Protein: ENSMUSP00000130305 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
Pfam:CaMKII_AD
|
37 |
164 |
3.1e-64 |
PFAM |
Pfam:DUF4440
|
41 |
155 |
8.8e-13 |
PFAM |
Pfam:SnoaL_3
|
41 |
167 |
1.8e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169051
|
SMART Domains |
Protein: ENSMUSP00000132554 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
Pfam:CaMKII_AD
|
346 |
473 |
6.9e-67 |
PFAM |
Pfam:DUF4440
|
350 |
464 |
4.3e-13 |
PFAM |
Pfam:SnoaL_3
|
350 |
476 |
2.8e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171950
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134466
|
SMART Domains |
Protein: ENSMUSP00000114801 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
14 |
140 |
1e-33 |
PFAM |
Pfam:Pkinase_Tyr
|
14 |
141 |
4.8e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145454
|
SMART Domains |
Protein: ENSMUSP00000130769 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
14 |
140 |
1.4e-33 |
PFAM |
Pfam:Pkinase_Tyr
|
14 |
142 |
4.7e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167417
|
SMART Domains |
Protein: ENSMUSP00000131124 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
Pfam:CaMKII_AD
|
53 |
180 |
4.8e-68 |
PFAM |
Pfam:DUF4440
|
57 |
171 |
8.2e-14 |
PFAM |
Pfam:SnoaL_3
|
57 |
183 |
4.2e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147043
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198637
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199300
|
SMART Domains |
Protein: ENSMUSP00000143504 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
Pfam:CaMKII_AD
|
346 |
473 |
1.3e-62 |
PFAM |
Pfam:DUF4440
|
350 |
464 |
1.7e-11 |
PFAM |
Pfam:SnoaL_3
|
350 |
475 |
4.6e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200171
|
SMART Domains |
Protein: ENSMUSP00000143677 Gene: ENSMUSG00000053819
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
Pfam:CaMKII_AD
|
380 |
507 |
9.8e-63 |
PFAM |
Pfam:DUF4440
|
384 |
498 |
2.5e-11 |
PFAM |
Pfam:SnoaL_3
|
384 |
509 |
5.7e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200010
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
Validation Efficiency |
98% (58/59) |
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 kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced response to heart induced stress. Mice homozygous for an allele that produces an oxidant-resistant product exhibit reduced response to myocardial infarction in a diabetic model. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
A |
C |
18: 65,440,367 (GRCm39) |
V809G |
possibly damaging |
Het |
Bank1 |
T |
A |
3: 135,772,151 (GRCm39) |
D493V |
probably damaging |
Het |
Ccdc17 |
T |
A |
4: 116,455,745 (GRCm39) |
L292H |
probably damaging |
Het |
Ccdc7b |
A |
G |
8: 129,837,498 (GRCm39) |
|
probably benign |
Het |
Cd34 |
C |
A |
1: 194,641,525 (GRCm39) |
T317K |
probably damaging |
Het |
Col6a5 |
C |
G |
9: 105,789,649 (GRCm39) |
|
probably null |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Copa |
T |
C |
1: 171,918,592 (GRCm39) |
|
probably benign |
Het |
Coq7 |
T |
C |
7: 118,128,867 (GRCm39) |
D56G |
probably damaging |
Het |
Dlg4 |
C |
T |
11: 69,922,610 (GRCm39) |
T201I |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,536,264 (GRCm39) |
D2593V |
probably benign |
Het |
Ect2l |
T |
A |
10: 18,018,788 (GRCm39) |
E536V |
probably damaging |
Het |
Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
Eml2 |
T |
C |
7: 18,935,479 (GRCm39) |
|
probably benign |
Het |
Fam135b |
C |
T |
15: 71,320,505 (GRCm39) |
|
probably benign |
Het |
Fhip2b |
T |
C |
14: 70,825,161 (GRCm39) |
T392A |
possibly damaging |
Het |
Gart |
C |
T |
16: 91,430,790 (GRCm39) |
R424H |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,842,049 (GRCm39) |
L80P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,358,163 (GRCm39) |
K2415E |
probably benign |
Het |
Ica1 |
C |
T |
6: 8,644,256 (GRCm39) |
|
probably benign |
Het |
Idi2l |
T |
A |
13: 8,990,958 (GRCm39) |
|
probably benign |
Het |
Iyd |
A |
T |
10: 3,497,127 (GRCm39) |
M161L |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,392,200 (GRCm39) |
L974S |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,947,605 (GRCm39) |
D1619G |
probably damaging |
Het |
Lypd8 |
C |
T |
11: 58,275,499 (GRCm39) |
T78M |
probably damaging |
Het |
Marchf10 |
T |
A |
11: 105,280,986 (GRCm39) |
H433L |
probably benign |
Het |
Mbp |
A |
G |
18: 82,572,742 (GRCm39) |
Y13C |
probably damaging |
Het |
Mertk |
A |
T |
2: 128,580,233 (GRCm39) |
N229I |
probably damaging |
Het |
Msrb2 |
T |
A |
2: 19,398,091 (GRCm39) |
D116E |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Otoa |
G |
A |
7: 120,744,873 (GRCm39) |
|
probably benign |
Het |
Pclo |
A |
G |
5: 14,719,552 (GRCm39) |
T1230A |
unknown |
Het |
Polrmt |
T |
C |
10: 79,574,979 (GRCm39) |
T851A |
possibly damaging |
Het |
Prpf6 |
C |
T |
2: 181,277,841 (GRCm39) |
P401L |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,839,635 (GRCm39) |
|
probably benign |
Het |
Rc3h2 |
A |
T |
2: 37,272,064 (GRCm39) |
|
probably benign |
Het |
Reps1 |
A |
G |
10: 17,996,841 (GRCm39) |
T588A |
probably damaging |
Het |
Rtel1 |
A |
C |
2: 180,993,674 (GRCm39) |
S782R |
probably benign |
Het |
Sacm1l |
A |
G |
9: 123,378,060 (GRCm39) |
|
probably benign |
Het |
Skic3 |
G |
C |
13: 76,298,848 (GRCm39) |
V1185L |
possibly damaging |
Het |
Skint5 |
A |
T |
4: 113,588,266 (GRCm39) |
L728* |
probably null |
Het |
Slc9b2 |
T |
A |
3: 135,029,536 (GRCm39) |
|
probably benign |
Het |
Snapc3 |
A |
T |
4: 83,368,397 (GRCm39) |
H298L |
probably benign |
Het |
Tex9 |
A |
T |
9: 72,399,233 (GRCm39) |
M1K |
probably null |
Het |
Trappc13 |
C |
T |
13: 104,291,424 (GRCm39) |
|
probably benign |
Het |
Usp3 |
C |
T |
9: 66,425,726 (GRCm39) |
R467H |
probably benign |
Het |
Vmn2r11 |
T |
A |
5: 109,195,597 (GRCm39) |
L576F |
possibly damaging |
Het |
Wnk4 |
T |
C |
11: 101,165,849 (GRCm39) |
F792S |
probably benign |
Het |
Zfp1007 |
T |
C |
5: 109,826,442 (GRCm39) |
|
probably null |
Het |
Zfp280d |
T |
C |
9: 72,269,230 (GRCm39) |
V764A |
probably benign |
Het |
Zfp69 |
G |
A |
4: 120,806,622 (GRCm39) |
Q4* |
probably null |
Het |
Zfp692 |
T |
G |
11: 58,200,449 (GRCm39) |
L206R |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
Zic4 |
T |
A |
9: 91,266,170 (GRCm39) |
Y264* |
probably null |
Het |
Zic4 |
T |
A |
9: 91,266,172 (GRCm39) |
M272K |
probably benign |
Het |
Zscan4b |
A |
T |
7: 10,635,390 (GRCm39) |
N284K |
probably damaging |
Het |
|
Other mutations in Camk2d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:Camk2d
|
APN |
3 |
126,631,921 (GRCm39) |
nonsense |
probably null |
|
IGL01113:Camk2d
|
APN |
3 |
126,574,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01125:Camk2d
|
APN |
3 |
126,591,934 (GRCm39) |
splice site |
probably benign |
|
IGL01912:Camk2d
|
APN |
3 |
126,604,281 (GRCm39) |
splice site |
probably null |
|
IGL01934:Camk2d
|
APN |
3 |
126,628,304 (GRCm39) |
splice site |
probably null |
|
IGL02184:Camk2d
|
APN |
3 |
126,591,422 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02218:Camk2d
|
APN |
3 |
126,633,802 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02804:Camk2d
|
APN |
3 |
126,591,387 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03347:Camk2d
|
APN |
3 |
126,590,550 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03354:Camk2d
|
APN |
3 |
126,590,615 (GRCm39) |
splice site |
probably null |
|
baryon
|
UTSW |
3 |
126,391,131 (GRCm39) |
nonsense |
probably null |
|
Neutron
|
UTSW |
3 |
126,574,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R0024:Camk2d
|
UTSW |
3 |
126,591,372 (GRCm39) |
missense |
probably benign |
0.01 |
R0024:Camk2d
|
UTSW |
3 |
126,591,372 (GRCm39) |
missense |
probably benign |
0.01 |
R1114:Camk2d
|
UTSW |
3 |
126,633,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R1433:Camk2d
|
UTSW |
3 |
126,601,873 (GRCm39) |
missense |
probably benign |
0.25 |
R2021:Camk2d
|
UTSW |
3 |
126,574,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R2096:Camk2d
|
UTSW |
3 |
126,574,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R2098:Camk2d
|
UTSW |
3 |
126,574,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R2421:Camk2d
|
UTSW |
3 |
126,574,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R2437:Camk2d
|
UTSW |
3 |
126,628,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R2930:Camk2d
|
UTSW |
3 |
126,601,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3738:Camk2d
|
UTSW |
3 |
126,565,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R3969:Camk2d
|
UTSW |
3 |
126,590,608 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4455:Camk2d
|
UTSW |
3 |
126,574,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Camk2d
|
UTSW |
3 |
126,573,646 (GRCm39) |
intron |
probably benign |
|
R4916:Camk2d
|
UTSW |
3 |
126,577,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R5277:Camk2d
|
UTSW |
3 |
126,478,390 (GRCm39) |
intron |
probably benign |
|
R5329:Camk2d
|
UTSW |
3 |
126,391,131 (GRCm39) |
nonsense |
probably null |
|
R5364:Camk2d
|
UTSW |
3 |
126,574,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R5473:Camk2d
|
UTSW |
3 |
126,391,048 (GRCm39) |
utr 5 prime |
probably benign |
|
R5509:Camk2d
|
UTSW |
3 |
126,633,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R5958:Camk2d
|
UTSW |
3 |
126,573,514 (GRCm39) |
intron |
probably benign |
|
R6010:Camk2d
|
UTSW |
3 |
126,591,363 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6145:Camk2d
|
UTSW |
3 |
126,599,507 (GRCm39) |
missense |
probably benign |
|
R7267:Camk2d
|
UTSW |
3 |
126,591,379 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7708:Camk2d
|
UTSW |
3 |
126,391,089 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
R8249:Camk2d
|
UTSW |
3 |
126,591,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R8554:Camk2d
|
UTSW |
3 |
126,564,448 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9489:Camk2d
|
UTSW |
3 |
126,561,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R9698:Camk2d
|
UTSW |
3 |
126,633,833 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCGTGACTAGGCAACCAGAGTG -3'
(R):5'- TGTCAACAATATGCTTGCACAGAACAC -3'
Sequencing Primer
(F):5'- AGTGCTCCCTTTGAAATGTTTGC -3'
(R):5'- GCTGACATATTCACAGAGTGATTC -3'
|
Posted On |
2013-07-11 |