Incidental Mutation 'IGL01934:Camk2d'
| ID |
180589 |
| 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 # |
IGL01934
|
| 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 126628304 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]
[ENSMUST00000200171]
[ENSMUST00000145454]
[ENSMUST00000199300]
|
| AlphaFold |
Q6PHZ2 |
| Predicted Effect |
probably null
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 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 |
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: ENSMUST00000197660
|
| 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 |
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: 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: ENSMUST00000198487
|
| 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 |
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: 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 |
probably null
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 |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,823,112 (GRCm39) |
K362E |
probably damaging |
Het |
| 4932438H23Rik |
T |
A |
16: 90,852,753 (GRCm39) |
T128S |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,774,650 (GRCm39) |
I593N |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,079,481 (GRCm39) |
N1224K |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,241,191 (GRCm39) |
|
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,770,048 (GRCm39) |
L35P |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,980,021 (GRCm39) |
L435Q |
probably damaging |
Het |
| Ankef1 |
A |
G |
2: 136,394,451 (GRCm39) |
E620G |
possibly damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,965,695 (GRCm39) |
I568F |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,545,092 (GRCm39) |
L1082* |
probably null |
Het |
| Atp6v0a4 |
T |
A |
6: 38,028,481 (GRCm39) |
I712F |
possibly damaging |
Het |
| Bco1 |
T |
A |
8: 117,822,784 (GRCm39) |
F5L |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,285,729 (GRCm39) |
S794C |
probably damaging |
Het |
| Capn15 |
T |
C |
17: 26,181,998 (GRCm39) |
T604A |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,839,366 (GRCm39) |
D83V |
probably damaging |
Het |
| Ces1a |
C |
A |
8: 93,759,278 (GRCm39) |
R286L |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,575,858 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
G |
2: 145,773,202 (GRCm39) |
V148A |
probably benign |
Het |
| Epas1 |
A |
T |
17: 87,131,157 (GRCm39) |
K312N |
probably damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,712,618 (GRCm39) |
S148G |
probably damaging |
Het |
| Fig4 |
T |
C |
10: 41,104,108 (GRCm39) |
T791A |
probably benign |
Het |
| Galnt9 |
A |
T |
5: 110,750,502 (GRCm39) |
I340F |
possibly damaging |
Het |
| Gfap |
G |
A |
11: 102,785,286 (GRCm39) |
A230V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm454 |
T |
C |
5: 138,205,424 (GRCm39) |
|
noncoding transcript |
Het |
| Il24 |
A |
T |
1: 130,811,614 (GRCm39) |
L115Q |
probably damaging |
Het |
| Ipp |
C |
A |
4: 116,367,852 (GRCm39) |
N28K |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,018,882 (GRCm39) |
|
probably null |
Het |
| Klf10 |
C |
T |
15: 38,297,528 (GRCm39) |
V171M |
probably benign |
Het |
| Man1b1 |
T |
C |
2: 25,235,523 (GRCm39) |
S350P |
probably benign |
Het |
| Mfsd4a |
T |
C |
1: 131,974,049 (GRCm39) |
Y343C |
probably damaging |
Het |
| Mrpl58 |
C |
A |
11: 115,301,555 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,134,394 (GRCm39) |
|
probably null |
Het |
| Nbas |
T |
C |
12: 13,339,880 (GRCm39) |
|
probably benign |
Het |
| Nisch |
A |
G |
14: 30,898,696 (GRCm39) |
|
probably benign |
Het |
| Or1o2 |
A |
T |
17: 37,542,439 (GRCm39) |
V274D |
probably damaging |
Het |
| Or52z14 |
T |
C |
7: 103,253,182 (GRCm39) |
F107S |
probably damaging |
Het |
| Or5p69 |
A |
G |
7: 107,967,368 (GRCm39) |
I224V |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,187,760 (GRCm39) |
C352* |
probably null |
Het |
| Ptf1a |
T |
A |
2: 19,451,431 (GRCm39) |
C254S |
possibly damaging |
Het |
| R3hdm1 |
G |
T |
1: 128,164,272 (GRCm39) |
R1062L |
probably benign |
Het |
| Rnf44 |
A |
G |
13: 54,829,763 (GRCm39) |
V407A |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,434,049 (GRCm39) |
L1598P |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,395,747 (GRCm39) |
S717P |
possibly damaging |
Het |
| Tdpoz4 |
A |
G |
3: 93,704,779 (GRCm39) |
K359E |
probably damaging |
Het |
| Tmtc4 |
A |
T |
14: 123,165,047 (GRCm39) |
L604* |
probably null |
Het |
| Tnfrsf21 |
A |
T |
17: 43,376,078 (GRCm39) |
N488I |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,747 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,575,019 (GRCm39) |
L382M |
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,931,355 (GRCm39) |
C18R |
probably damaging |
Het |
| Ugt8a |
A |
G |
3: 125,708,424 (GRCm39) |
S229P |
probably benign |
Het |
| Usp22 |
T |
C |
11: 61,046,114 (GRCm39) |
E476G |
probably damaging |
Het |
| Vill |
G |
T |
9: 118,895,877 (GRCm39) |
A146S |
probably damaging |
Het |
| Vmn1r178 |
T |
C |
7: 23,593,362 (GRCm39) |
Y137H |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,717,833 (GRCm39) |
W51R |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,296,768 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
A |
T |
18: 82,651,245 (GRCm39) |
V889E |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,486,277 (GRCm39) |
D141G |
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 |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation