Incidental Mutation 'R0024:Camk2d'
ID |
15172 |
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 |
038319-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
R0024 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126591372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 281
(M281V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133019
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000171289]
[ENSMUST00000199300]
[ENSMUST00000163226]
[ENSMUST00000200171]
[ENSMUST00000134466]
[ENSMUST00000145454]
|
AlphaFold |
Q6PHZ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066466
AA Change: M281V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000063359 Gene: ENSMUSG00000053819 AA Change: M281V
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
AA Change: M281V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102007 Gene: ENSMUSG00000053819 AA Change: M281V
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
AA Change: M281V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000102008 Gene: ENSMUSG00000053819 AA Change: M281V
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
AA Change: M281V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000102009 Gene: ENSMUSG00000053819 AA Change: M281V
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: M281V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102010 Gene: ENSMUSG00000053819 AA Change: M281V
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 |
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: ENSMUST00000171289
AA Change: M281V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000129999 Gene: ENSMUSG00000053819 AA Change: M281V
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 |
probably benign
Transcript: ENSMUST00000199300
AA Change: M281V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000143504 Gene: ENSMUSG00000053819 AA Change: M281V
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: ENSMUST00000163226
AA Change: M281V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000133019 Gene: ENSMUSG00000053819 AA Change: M281V
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200171
AA Change: M281V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143677 Gene: ENSMUSG00000053819 AA Change: M281V
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: ENSMUST00000147043
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171950
|
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: 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: ENSMUST00000197660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198487
|
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: 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 |
|
Meta Mutation Damage Score |
0.0704 |
Coding Region Coverage |
- 1x: 79.2%
- 3x: 69.7%
- 10x: 44.0%
- 20x: 23.5%
|
Validation Efficiency |
95% (75/79) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
T |
C |
8: 84,454,913 (GRCm39) |
T260A |
probably damaging |
Het |
Ahctf1 |
G |
A |
1: 179,580,001 (GRCm39) |
T2067M |
probably damaging |
Het |
Akip1 |
T |
C |
7: 109,303,345 (GRCm39) |
S63P |
probably benign |
Het |
Ankrd34c |
G |
A |
9: 89,611,580 (GRCm39) |
P254S |
possibly damaging |
Het |
Aqp8 |
T |
C |
7: 123,066,663 (GRCm39) |
I256T |
probably benign |
Het |
Arnt2 |
A |
G |
7: 83,933,334 (GRCm39) |
V308A |
probably benign |
Het |
Astn1 |
G |
A |
1: 158,511,785 (GRCm39) |
S1209N |
probably damaging |
Het |
Atf7ip |
T |
C |
6: 136,576,818 (GRCm39) |
|
probably benign |
Het |
Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
Cadm4 |
T |
C |
7: 24,202,169 (GRCm39) |
L336P |
probably benign |
Het |
Dennd2b |
T |
C |
7: 109,123,866 (GRCm39) |
H1131R |
probably damaging |
Het |
Dll3 |
A |
G |
7: 27,999,586 (GRCm39) |
|
probably benign |
Het |
Dscam |
G |
A |
16: 96,394,585 (GRCm39) |
R1906* |
probably null |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Eif2ak3 |
A |
G |
6: 70,869,340 (GRCm39) |
T676A |
probably benign |
Het |
Entpd5 |
T |
C |
12: 84,420,507 (GRCm39) |
M428T |
probably benign |
Het |
Fry |
T |
G |
5: 150,304,268 (GRCm39) |
S553A |
probably benign |
Het |
Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
Gm14340 |
T |
A |
2: 180,466,043 (GRCm39) |
|
noncoding transcript |
Het |
Gm9457 |
A |
C |
8: 4,863,131 (GRCm39) |
|
noncoding transcript |
Het |
Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
Iqgap1 |
T |
C |
7: 80,401,687 (GRCm39) |
T473A |
probably benign |
Het |
Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
Lysmd4 |
A |
G |
7: 66,875,828 (GRCm39) |
T164A |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,955,109 (GRCm39) |
Y701N |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,133,399 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,326,303 (GRCm39) |
I79N |
possibly damaging |
Het |
Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rsc1a1 |
T |
C |
4: 141,412,583 (GRCm39) |
K110E |
probably benign |
Het |
Sin3a |
T |
A |
9: 57,025,537 (GRCm39) |
|
probably benign |
Het |
Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
Slc6a3 |
A |
T |
13: 73,688,956 (GRCm39) |
|
probably benign |
Het |
Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
Tpm3 |
C |
A |
3: 89,994,756 (GRCm39) |
|
probably null |
Het |
Ttc27 |
T |
C |
17: 75,077,259 (GRCm39) |
F385L |
possibly damaging |
Het |
Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
probably benign |
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 |
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 |
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 |
|
Posted On |
2012-12-12 |