Incidental Mutation 'IGL02218:Camk2d'
ID |
284998 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Camk2d
|
Ensembl Gene |
ENSMUSG00000053819 |
Gene Name |
calcium/calmodulin-dependent protein kinase II, delta |
Synonyms |
CaMK II, 8030469K03Rik, 2810011D23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.205)
|
Stock # |
IGL02218
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 126633802 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 441
(N441K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066452]
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000171289]
[ENSMUST00000200171]
[ENSMUST00000199300]
[ENSMUST00000145454]
|
AlphaFold |
Q6PHZ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066452
AA Change: N89K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066996 Gene: ENSMUSG00000053819 AA Change: N89K
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: N421K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000063359 Gene: ENSMUSG00000053819 AA Change: N421K
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: N441K
|
SMART Domains |
Protein: ENSMUSP00000102007 Gene: ENSMUSG00000053819 AA Change: N441K
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: N407K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102008 Gene: ENSMUSG00000053819 AA Change: N407K
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: N417K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102009 Gene: ENSMUSG00000053819 AA Change: N417K
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: N441K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102010 Gene: ENSMUSG00000053819 AA Change: N441K
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: N441K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129999 Gene: ENSMUSG00000053819 AA Change: N441K
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: ENSMUST00000200171
AA Change: N441K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143677 Gene: ENSMUSG00000053819 AA Change: N441K
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 |
probably benign
Transcript: ENSMUST00000199300
AA Change: N407K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143504 Gene: ENSMUSG00000053819 AA Change: N407K
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 |
unknown
Transcript: ENSMUST00000170149
AA Change: N97K
|
SMART Domains |
Protein: ENSMUSP00000130305 Gene: ENSMUSG00000053819 AA Change: N97K
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: 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: 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: ENSMUST00000198487
|
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: ENSMUST00000197660
|
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: ENSMUST00000129293
|
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 |
|
Coding Region Coverage |
|
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 |
5730409E04Rik |
A |
G |
4: 126,505,838 (GRCm39) |
D122G |
probably benign |
Het |
Abcc8 |
T |
C |
7: 45,769,860 (GRCm39) |
D885G |
probably benign |
Het |
Abcf1 |
T |
C |
17: 36,269,230 (GRCm39) |
K676R |
probably benign |
Het |
Acsf2 |
A |
G |
11: 94,492,589 (GRCm39) |
V3A |
probably benign |
Het |
Apba2 |
C |
T |
7: 64,345,425 (GRCm39) |
T205I |
probably benign |
Het |
Bricd5 |
C |
A |
17: 24,694,296 (GRCm39) |
Y171* |
probably null |
Het |
Carm1 |
T |
C |
9: 21,480,808 (GRCm39) |
V94A |
probably damaging |
Het |
Chd3 |
C |
T |
11: 69,242,920 (GRCm39) |
|
probably benign |
Het |
Cipc |
A |
G |
12: 87,008,702 (GRCm39) |
N166S |
probably damaging |
Het |
Cln5 |
A |
C |
14: 103,313,276 (GRCm39) |
|
probably null |
Het |
Cnbd1 |
C |
A |
4: 18,887,739 (GRCm39) |
Q258H |
probably benign |
Het |
Cyp8b1 |
A |
G |
9: 121,744,183 (GRCm39) |
L383P |
probably damaging |
Het |
Dnai4 |
A |
G |
4: 102,953,971 (GRCm39) |
V76A |
probably damaging |
Het |
Dok3 |
A |
G |
13: 55,671,599 (GRCm39) |
L324P |
probably damaging |
Het |
Eftud2 |
A |
T |
11: 102,761,039 (GRCm39) |
F102Y |
possibly damaging |
Het |
Ewsr1 |
G |
A |
11: 5,020,668 (GRCm39) |
P551S |
unknown |
Het |
Fam193a |
G |
T |
5: 34,600,932 (GRCm39) |
V346L |
possibly damaging |
Het |
Golim4 |
A |
G |
3: 75,785,361 (GRCm39) |
S677P |
probably damaging |
Het |
Gpr149 |
A |
G |
3: 62,437,952 (GRCm39) |
|
probably benign |
Het |
Ins1 |
A |
T |
19: 52,253,121 (GRCm39) |
K20N |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,141,760 (GRCm39) |
|
probably benign |
Het |
Jup |
G |
A |
11: 100,272,665 (GRCm39) |
T249I |
probably damaging |
Het |
Kctd20 |
T |
A |
17: 29,176,877 (GRCm39) |
N2K |
probably benign |
Het |
Kif15 |
A |
G |
9: 122,824,892 (GRCm39) |
|
probably benign |
Het |
Klrb1-ps1 |
T |
C |
6: 129,106,269 (GRCm39) |
|
noncoding transcript |
Het |
Krtap29-1 |
T |
C |
11: 99,869,884 (GRCm39) |
|
probably null |
Het |
Lamb3 |
A |
T |
1: 193,010,941 (GRCm39) |
|
probably null |
Het |
Large1 |
A |
G |
8: 73,638,750 (GRCm39) |
W276R |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,185,684 (GRCm39) |
N603D |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,391,207 (GRCm39) |
V1406A |
probably benign |
Het |
Lrrc74a |
A |
G |
12: 86,795,822 (GRCm39) |
D265G |
probably benign |
Het |
Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
Mbtd1 |
A |
G |
11: 93,822,629 (GRCm39) |
|
probably benign |
Het |
Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
Mtfr1l |
C |
T |
4: 134,256,491 (GRCm39) |
D225N |
probably benign |
Het |
Nckap1l |
T |
A |
15: 103,391,954 (GRCm39) |
S796R |
possibly damaging |
Het |
Oaf |
T |
A |
9: 43,136,219 (GRCm39) |
H119L |
probably benign |
Het |
Or4d1 |
A |
T |
11: 87,804,889 (GRCm39) |
M281K |
probably damaging |
Het |
Pik3c2g |
A |
T |
6: 139,806,081 (GRCm39) |
H516L |
probably damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,387,434 (GRCm39) |
I1793F |
possibly damaging |
Het |
Ptpra |
A |
G |
2: 130,394,255 (GRCm39) |
|
probably benign |
Het |
Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
Slc2a2 |
A |
T |
3: 28,752,174 (GRCm39) |
E3D |
possibly damaging |
Het |
Slc35f5 |
T |
C |
1: 125,512,292 (GRCm39) |
F14S |
probably damaging |
Het |
Sspn |
T |
C |
6: 145,907,112 (GRCm39) |
V105A |
probably damaging |
Het |
Syvn1 |
T |
C |
19: 6,100,229 (GRCm39) |
I263T |
probably damaging |
Het |
Tek |
A |
C |
4: 94,743,574 (GRCm39) |
D863A |
probably damaging |
Het |
Tent5b |
C |
T |
4: 133,213,462 (GRCm39) |
A111V |
probably damaging |
Het |
Tm9sf4 |
G |
T |
2: 153,046,536 (GRCm39) |
V592F |
probably benign |
Het |
Tmem259 |
A |
G |
10: 79,814,151 (GRCm39) |
M354T |
possibly damaging |
Het |
Ttf2 |
T |
C |
3: 100,871,409 (GRCm39) |
E84G |
possibly damaging |
Het |
Ttyh3 |
T |
C |
5: 140,612,246 (GRCm39) |
E487G |
probably damaging |
Het |
Ubtf |
C |
A |
11: 102,197,526 (GRCm39) |
E709* |
probably null |
Het |
Vmn1r119 |
T |
C |
7: 20,745,561 (GRCm39) |
R274G |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,089,546 (GRCm39) |
Q1125R |
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 |
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 |
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 |
2015-04-16 |