Incidental Mutation 'IGL03354:Camk2d'
| ID |
419878 |
| 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: 0.204)
|
| Stock # |
IGL03354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 126590615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000171289]
[ENSMUST00000199300]
[ENSMUST00000145454]
[ENSMUST00000200171]
[ENSMUST00000134466]
[ENSMUST00000163226]
|
| AlphaFold |
Q6PHZ2 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 |
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 null
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: 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 null
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: 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: ENSMUST00000147043
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171950
|
| Predicted Effect |
probably null
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: ENSMUST00000197660
|
| 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 null
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: 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 |
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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
A |
5: 138,645,041 (GRCm39) |
A309T |
possibly damaging |
Het |
| Abca15 |
C |
A |
7: 119,993,711 (GRCm39) |
Y1310* |
probably null |
Het |
| Adad1 |
G |
T |
3: 37,160,322 (GRCm39) |
C552F |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,208,890 (GRCm39) |
S180P |
possibly damaging |
Het |
| Anxa10 |
A |
T |
8: 62,549,778 (GRCm39) |
D22E |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,516,174 (GRCm39) |
S1255P |
probably damaging |
Het |
| Bhlhe41 |
T |
C |
6: 145,809,929 (GRCm39) |
T92A |
probably damaging |
Het |
| Bicc1 |
G |
A |
10: 70,782,432 (GRCm39) |
P603S |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,419,102 (GRCm39) |
I808N |
probably damaging |
Het |
| Cd200r3 |
C |
T |
16: 44,773,960 (GRCm39) |
A124V |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,482,050 (GRCm39) |
E310G |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,162 (GRCm39) |
D357V |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,124,849 (GRCm39) |
V173I |
probably damaging |
Het |
| Dnajb4 |
T |
A |
3: 151,892,115 (GRCm39) |
E239D |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,149,981 (GRCm39) |
|
probably benign |
Het |
| Emp2 |
A |
G |
16: 10,103,429 (GRCm39) |
I74T |
probably damaging |
Het |
| Ermn |
T |
G |
2: 57,942,634 (GRCm39) |
E32A |
probably benign |
Het |
| F10 |
C |
A |
8: 13,095,089 (GRCm39) |
T82N |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,520,951 (GRCm39) |
D295G |
possibly damaging |
Het |
| Gm527 |
T |
A |
12: 64,969,154 (GRCm39) |
F194I |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,703,140 (GRCm39) |
T98M |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,221,512 (GRCm39) |
R330G |
possibly damaging |
Het |
| H1f4 |
C |
T |
13: 23,806,060 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,987,957 (GRCm39) |
H549R |
probably damaging |
Het |
| Klhl14 |
T |
A |
18: 21,784,785 (GRCm39) |
D214V |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,270 (GRCm39) |
F248S |
probably benign |
Het |
| Mctp2 |
C |
T |
7: 71,810,992 (GRCm39) |
V661I |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,992,373 (GRCm39) |
M1616L |
probably benign |
Het |
| Nlrp4b |
A |
T |
7: 10,448,465 (GRCm39) |
I223F |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,524 (GRCm39) |
S64C |
possibly damaging |
Het |
| Or1j18 |
G |
T |
2: 36,624,525 (GRCm39) |
S64I |
possibly damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,654 (GRCm39) |
Y191C |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,307 (GRCm39) |
V239A |
probably benign |
Het |
| Or2b28 |
T |
C |
13: 21,531,686 (GRCm39) |
V196A |
possibly damaging |
Het |
| Or4c3d |
A |
C |
2: 89,881,911 (GRCm39) |
C252W |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,735 (GRCm39) |
C179S |
possibly damaging |
Het |
| Or5w1b |
T |
C |
2: 87,475,939 (GRCm39) |
N176S |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,161,893 (GRCm39) |
D116G |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,388,174 (GRCm39) |
D440G |
probably benign |
Het |
| Plekho2 |
T |
C |
9: 65,466,703 (GRCm39) |
E129G |
probably null |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,715,302 (GRCm39) |
L248P |
probably damaging |
Het |
| Ruvbl1 |
C |
A |
6: 88,456,197 (GRCm39) |
Y90* |
probably null |
Het |
| Schip1 |
A |
G |
3: 68,402,298 (GRCm39) |
D125G |
possibly damaging |
Het |
| Skic3 |
T |
C |
13: 76,330,941 (GRCm39) |
V1457A |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,597,303 (GRCm39) |
S62P |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,256,022 (GRCm39) |
V656A |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,509,730 (GRCm39) |
L840P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,834,082 (GRCm39) |
I438N |
probably damaging |
Het |
| Wdr11 |
C |
A |
7: 129,227,026 (GRCm39) |
F829L |
probably benign |
Het |
| Zdhhc11 |
A |
T |
13: 74,127,264 (GRCm39) |
I214F |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation