Incidental Mutation 'R1433:Camk2d'
ID |
159294 |
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 |
039488-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R1433 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126601873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 354
(V354A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066452]
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000171289]
[ENSMUST00000145454]
[ENSMUST00000163226]
[ENSMUST00000134466]
[ENSMUST00000200171]
[ENSMUST00000199300]
|
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
AA Change: V334A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000063359 Gene: ENSMUSG00000053819 AA Change: V334A
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 |
unknown
Transcript: ENSMUST00000106399
AA Change: V354A
|
SMART Domains |
Protein: ENSMUSP00000102007 Gene: ENSMUSG00000053819 AA Change: V354A
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
AA Change: V354A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000102010 Gene: ENSMUSG00000053819 AA Change: V354A
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 |
probably benign
Transcript: ENSMUST00000171289
AA Change: V354A
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000129999 Gene: ENSMUSG00000053819 AA Change: V354A
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: 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 |
noncoding transcript
Transcript: ENSMUST00000129293
|
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 |
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: ENSMUST00000171950
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147043
|
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 |
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 |
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 |
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 |
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 |
unknown
Transcript: ENSMUST00000200171
AA Change: V354A
|
SMART Domains |
Protein: ENSMUSP00000143677 Gene: ENSMUSG00000053819 AA Change: V354A
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: ENSMUST00000197660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198487
|
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 |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
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 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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp1 |
C |
T |
12: 30,945,934 (GRCm39) |
E140K |
possibly damaging |
Het |
Acsm4 |
T |
A |
7: 119,293,042 (GRCm39) |
D57E |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,826,271 (GRCm39) |
|
probably null |
Het |
Aen |
T |
A |
7: 78,557,060 (GRCm39) |
Y303N |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,116,115 (GRCm39) |
|
probably null |
Het |
Apol7b |
A |
G |
15: 77,309,746 (GRCm39) |
L17P |
probably damaging |
Het |
Cacna1c |
A |
T |
6: 118,629,754 (GRCm39) |
Y1058* |
probably null |
Het |
Carf |
T |
G |
1: 60,164,017 (GRCm39) |
M43R |
probably damaging |
Het |
Casp8 |
T |
A |
1: 58,863,283 (GRCm39) |
F81Y |
probably damaging |
Het |
Cd74 |
G |
A |
18: 60,937,064 (GRCm39) |
R20H |
probably benign |
Het |
Cers5 |
A |
T |
15: 99,643,812 (GRCm39) |
Y16* |
probably null |
Het |
Chuk |
A |
T |
19: 44,067,397 (GRCm39) |
M586K |
probably null |
Het |
D130043K22Rik |
C |
A |
13: 25,055,324 (GRCm39) |
P496Q |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,459,419 (GRCm39) |
R311G |
probably damaging |
Het |
Depp1 |
A |
T |
6: 116,629,223 (GRCm39) |
S189C |
possibly damaging |
Het |
Diaph1 |
A |
T |
18: 38,038,187 (GRCm39) |
I48N |
unknown |
Het |
Dnajc13 |
T |
C |
9: 104,057,320 (GRCm39) |
D1560G |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,715,780 (GRCm39) |
S241P |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 76,996,204 (GRCm39) |
D1119G |
probably benign |
Het |
Efr3a |
G |
T |
15: 65,740,906 (GRCm39) |
|
probably benign |
Het |
Evc2 |
A |
G |
5: 37,550,427 (GRCm39) |
K814E |
probably damaging |
Het |
Hic2 |
A |
G |
16: 17,076,686 (GRCm39) |
D505G |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,607,010 (GRCm39) |
V34D |
probably damaging |
Het |
Inpp5k |
A |
G |
11: 75,528,317 (GRCm39) |
M172V |
probably benign |
Het |
Itgae |
T |
C |
11: 73,006,418 (GRCm39) |
V362A |
probably damaging |
Het |
Lama2 |
T |
A |
10: 27,063,750 (GRCm39) |
R1346S |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,882,943 (GRCm39) |
N450S |
probably damaging |
Het |
Lrrn3 |
T |
A |
12: 41,502,583 (GRCm39) |
Y578F |
possibly damaging |
Het |
Maml2 |
A |
T |
9: 13,617,797 (GRCm39) |
N381I |
probably damaging |
Het |
Mettl15 |
T |
G |
2: 108,923,266 (GRCm39) |
E385D |
probably benign |
Het |
Mthfr |
T |
A |
4: 148,139,900 (GRCm39) |
I623N |
possibly damaging |
Het |
Muc4 |
A |
C |
16: 32,574,448 (GRCm39) |
N966T |
probably benign |
Het |
Myoc |
A |
G |
1: 162,476,565 (GRCm39) |
Y423C |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,218,602 (GRCm39) |
M1409K |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,187,039 (GRCm39) |
|
probably benign |
Het |
Numb |
T |
C |
12: 83,844,033 (GRCm39) |
E395G |
probably damaging |
Het |
Oas1g |
A |
G |
5: 121,020,012 (GRCm39) |
F198S |
probably damaging |
Het |
Or2b28 |
T |
C |
13: 21,531,194 (GRCm39) |
V32A |
probably benign |
Het |
Or5k17 |
A |
G |
16: 58,746,049 (GRCm39) |
V295A |
probably benign |
Het |
Prdm13 |
T |
A |
4: 21,678,909 (GRCm39) |
Y527F |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,986,177 (GRCm39) |
L1106P |
probably damaging |
Het |
Ptbp1 |
T |
A |
10: 79,699,107 (GRCm39) |
I555N |
probably damaging |
Het |
Ptchd4 |
A |
T |
17: 42,814,606 (GRCm39) |
T836S |
possibly damaging |
Het |
Rlbp1 |
T |
C |
7: 79,033,686 (GRCm39) |
D3G |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,685,871 (GRCm39) |
E1883G |
probably damaging |
Het |
Serpinc1 |
A |
T |
1: 160,820,974 (GRCm39) |
K140N |
probably damaging |
Het |
Serpind1 |
A |
T |
16: 17,160,249 (GRCm39) |
Y382F |
probably damaging |
Het |
Slc28a3 |
T |
C |
13: 58,710,920 (GRCm39) |
E534G |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,711,429 (GRCm39) |
M94T |
probably benign |
Het |
Ttyh2 |
T |
A |
11: 114,601,005 (GRCm39) |
I418N |
probably benign |
Het |
Tubgcp4 |
C |
T |
2: 121,005,905 (GRCm39) |
Q98* |
probably null |
Het |
Ugt2a2 |
A |
G |
5: 87,611,965 (GRCm39) |
L315P |
probably damaging |
Het |
Vwa1 |
A |
T |
4: 155,857,358 (GRCm39) |
S147T |
probably damaging |
Het |
Xylt1 |
T |
C |
7: 117,191,179 (GRCm39) |
V325A |
possibly damaging |
Het |
Zfp335 |
T |
C |
2: 164,741,376 (GRCm39) |
H685R |
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 |
R0628:Camk2d
|
UTSW |
3 |
126,604,273 (GRCm39) |
splice site |
probably benign |
|
R1114:Camk2d
|
UTSW |
3 |
126,633,941 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGACAGCCCCTTACCTGGCTTTAG -3'
(R):5'- CCACTGTGACAACAGAGGACAATGG -3'
Sequencing Primer
(F):5'- AGCTCTTGTCACTAGTCTTGTCTG -3'
(R):5'- tctctctctctctttctctctctc -3'
|
Posted On |
2014-03-14 |