Incidental Mutation 'R5277:Camk2d'
| ID | 403990 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Camk2d
|
|---|
| Ensembl Gene |
ENSMUSG00000053819 |
|---|
| Gene Name | calcium/calmodulin-dependent protein kinase II, delta |
|---|
| Synonyms | CaMK II, 2810011D23Rik, 8030469K03Rik |
|---|
| MMRRC Submission |
042864-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably non essential (E-score: 0.192)
|
|---|
| Stock # | R5277 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 3 |
|---|
| Chromosomal Location | 126596302-126846326 bp(+) (GRCm38) |
|---|
| Type of Mutation | intron |
|---|
| DNA Base Change (assembly) |
T to C
at 126684741 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143677
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000134466]
[ENSMUST00000145454]
[ENSMUST00000163226]
[ENSMUST00000171289]
[ENSMUST00000199300]
[ENSMUST00000200171]
|
|---|
| Predicted Effect |
probably benign
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 benign
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 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
|
|---|
| 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: ENSMUST00000131156
|
|---|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000143383
|
|---|
| 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: ENSMUST00000149311
|
|---|
| 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 |
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: 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 |
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 |
|
|---|
| Predicted Effect |
probably benign
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 |
|
|---|
| Meta Mutation Damage Score |
0.0898
|
|---|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
|---|
| Validation Efficiency |
98% (52/53) |
|---|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,994,648 |
T54A |
probably damaging |
Het |
| Ablim1 |
T |
C |
19: 57,155,261 |
R89G |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,117,389 |
|
probably null |
Het |
| Bhmt |
A |
T |
13: 93,624,885 |
M185K |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 104,309,470 |
|
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,424,346 |
S70P |
probably benign |
Het |
| Dclre1a |
C |
T |
19: 56,544,732 |
V477I |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,828,137 |
P4021L |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 184,037,007 |
N57D |
possibly damaging |
Het |
| Fam13b |
G |
A |
18: 34,462,190 |
R374C |
probably benign |
Het |
| Fyb2 |
G |
A |
4: 105,015,679 |
D686N |
probably damaging |
Het |
| Glra3 |
G |
A |
8: 55,991,207 |
M67I |
possibly damaging |
Het |
| Gm14325 |
G |
A |
2: 177,832,984 |
H102Y |
possibly damaging |
Het |
| Gm6180 |
A |
G |
8: 42,247,140 |
|
noncoding transcript |
Het |
| Grin2c |
A |
G |
11: 115,253,813 |
V629A |
probably damaging |
Het |
| Kif4-ps |
A |
T |
12: 101,145,927 |
|
noncoding transcript |
Het |
| Mc3r |
T |
C |
2: 172,249,787 |
F310L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,252,354 |
D1036G |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 54,956,562 |
I790T |
probably benign |
Het |
| Myo15 |
C |
A |
11: 60,477,114 |
Y233* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,026,540 |
C758* |
probably null |
Het |
| Neurog3 |
T |
A |
10: 62,133,853 |
Y36N |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,321,438 |
L450P |
probably benign |
Het |
| Olfr607 |
A |
T |
7: 103,460,941 |
L84H |
probably damaging |
Het |
| Otog |
A |
G |
7: 46,246,621 |
E170G |
possibly damaging |
Het |
| Ppp2r2b |
G |
T |
18: 42,741,142 |
T41K |
probably damaging |
Het |
| Prmt5 |
A |
T |
14: 54,509,942 |
D459E |
probably benign |
Het |
| Ric8b |
G |
A |
10: 84,947,652 |
V125M |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,822,956 |
S4G |
probably damaging |
Het |
| Rslcan18 |
T |
G |
13: 67,098,434 |
E371D |
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,419,226 |
F819Y |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,276,544 |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,399,824 |
T163I |
possibly damaging |
Het |
| Sphkap |
T |
C |
1: 83,276,164 |
N1288S |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,673,192 |
|
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,057,757 |
|
probably null |
Het |
| Tmem69 |
A |
G |
4: 116,553,261 |
F171L |
probably benign |
Het |
| Urod |
A |
T |
4: 116,990,285 |
|
probably benign |
Het |
| Vmn1r37 |
A |
T |
6: 66,731,476 |
I29L |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,694,131 |
T653A |
possibly damaging |
Het |
| Vmn2r75 |
A |
C |
7: 86,166,292 |
S121R |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,996 |
T831A |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 7,976,984 |
W362* |
probably null |
Het |
| Zfat |
A |
G |
15: 68,165,909 |
C906R |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,881,203 |
V32A |
probably damaging |
Het |
|
|---|
| Other mutations in Camk2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Camk2d
|
APN |
3 |
126838272 |
nonsense |
probably null |
|
|
IGL01113:Camk2d
|
APN |
3 |
126780412 |
missense |
probably damaging |
1.00 |
|
IGL01125:Camk2d
|
APN |
3 |
126798285 |
splice site |
probably benign |
|
|
IGL01912:Camk2d
|
APN |
3 |
126810632 |
splice site |
probably null |
|
|
IGL01934:Camk2d
|
APN |
3 |
126834655 |
splice site |
probably null |
|
|
IGL02184:Camk2d
|
APN |
3 |
126797773 |
missense |
probably damaging |
0.97 |
|
IGL02218:Camk2d
|
APN |
3 |
126840153 |
missense |
probably benign |
0.00 |
|
IGL02804:Camk2d
|
APN |
3 |
126797738 |
missense |
possibly damaging |
0.53 |
|
IGL03347:Camk2d
|
APN |
3 |
126796901 |
missense |
probably damaging |
1.00 |
|
IGL03354:Camk2d
|
APN |
3 |
126796966 |
splice site |
probably null |
|
|
baryon
|
UTSW |
3 |
126597482 |
nonsense |
probably null |
|
|
neutron
|
UTSW |
3 |
126780420 |
missense |
probably damaging |
1.00 |
|
R0024:Camk2d
|
UTSW |
3 |
126797723 |
missense |
probably benign |
0.01 |
|
R0024:Camk2d
|
UTSW |
3 |
126797723 |
missense |
probably benign |
0.01 |
|
R0628:Camk2d
|
UTSW |
3 |
126810624 |
splice site |
probably benign |
|
|
R1114:Camk2d
|
UTSW |
3 |
126840292 |
missense |
probably damaging |
1.00 |
|
R1433:Camk2d
|
UTSW |
3 |
126808224 |
missense |
probably benign |
0.25 |
|
R2021:Camk2d
|
UTSW |
3 |
126780456 |
missense |
probably damaging |
1.00 |
|
R2096:Camk2d
|
UTSW |
3 |
126780442 |
missense |
probably damaging |
1.00 |
|
R2098:Camk2d
|
UTSW |
3 |
126780442 |
missense |
probably damaging |
1.00 |
|
R2421:Camk2d
|
UTSW |
3 |
126780415 |
missense |
probably damaging |
1.00 |
|
R2437:Camk2d
|
UTSW |
3 |
126834628 |
missense |
probably damaging |
1.00 |
|
R2930:Camk2d
|
UTSW |
3 |
126808231 |
missense |
possibly damaging |
0.86 |
|
R3738:Camk2d
|
UTSW |
3 |
126771839 |
missense |
probably damaging |
1.00 |
|
R3969:Camk2d
|
UTSW |
3 |
126796959 |
missense |
possibly damaging |
0.81 |
|
R4455:Camk2d
|
UTSW |
3 |
126780403 |
missense |
probably damaging |
1.00 |
|
R4829:Camk2d
|
UTSW |
3 |
126779997 |
intron |
probably benign |
|
|
R4916:Camk2d
|
UTSW |
3 |
126783975 |
missense |
probably damaging |
1.00 |
|
R5329:Camk2d
|
UTSW |
3 |
126597482 |
nonsense |
probably null |
|
|
R5364:Camk2d
|
UTSW |
3 |
126780420 |
missense |
probably damaging |
1.00 |
|
R5473:Camk2d
|
UTSW |
3 |
126597399 |
utr 5 prime |
probably benign |
|
|
R5509:Camk2d
|
UTSW |
3 |
126840316 |
missense |
probably damaging |
1.00 |
|
R5958:Camk2d
|
UTSW |
3 |
126779865 |
intron |
probably benign |
|
|
R6010:Camk2d
|
UTSW |
3 |
126797714 |
missense |
possibly damaging |
0.83 |
|
R6145:Camk2d
|
UTSW |
3 |
126805858 |
missense |
probably benign |
|
|
R7267:Camk2d
|
UTSW |
3 |
126797730 |
missense |
possibly damaging |
0.59 |
|
R7708:Camk2d
|
UTSW |
3 |
126597440 |
start codon destroyed |
probably benign |
0.00 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- AATGCAACTTGACATGATCACC -3'
(R):5'- GCTAACGTGCAATCTTCAGC -3'
Sequencing Primer
(F):5'- TAAGAACAGAAGTTTGATGTCGTATG -3'
(R):5'- TGCAATCTTCAGCACCACAGG -3'
|
|---|
| Posted On | 2016-07-22 |
|---|
