Incidental Mutation 'R5329:Camk2d'
| ID |
422206 |
| 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 |
042911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R5329 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 126391131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 15
(Q15*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066452]
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000134466]
[ENSMUST00000145454]
[ENSMUST00000163226]
[ENSMUST00000171289]
[ENSMUST00000199300]
[ENSMUST00000200171]
|
| AlphaFold |
Q6PHZ2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066452
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000066996
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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 |
probably null
Transcript: ENSMUST00000134466
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000114801
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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: ENSMUST00000145454
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000130769
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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 null
Transcript: ENSMUST00000163226
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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 null
Transcript: ENSMUST00000171289
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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 null
Transcript: ENSMUST00000199300
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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 null
Transcript: ENSMUST00000200171
AA Change: Q15*
|
| SMART Domains |
Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: Q15*
| 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: ENSMUST00000197897
|
| 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: ENSMUST00000143383
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (61/62) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430005L14Rik |
G |
A |
4: 154,044,284 (GRCm39) |
V32I |
probably benign |
Het |
| Abcg4 |
A |
T |
9: 44,190,842 (GRCm39) |
M19K |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,255,274 (GRCm39) |
T392A |
probably benign |
Het |
| Adam19 |
A |
T |
11: 46,015,853 (GRCm39) |
I338F |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,807,612 (GRCm39) |
M349I |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,587,059 (GRCm39) |
|
probably benign |
Het |
| Bptf |
T |
C |
11: 106,964,121 (GRCm39) |
D1628G |
probably benign |
Het |
| Camk2g |
T |
G |
14: 20,843,999 (GRCm39) |
D12A |
possibly damaging |
Het |
| Cemip2 |
T |
C |
19: 21,775,693 (GRCm39) |
I312T |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,687,300 (GRCm39) |
M1V |
probably null |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Dcbld1 |
C |
A |
10: 52,160,353 (GRCm39) |
|
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Efcab3 |
T |
G |
11: 104,644,632 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,220,953 (GRCm39) |
L903Q |
probably damaging |
Het |
| Gm5117 |
T |
A |
8: 32,227,910 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5150 |
T |
C |
3: 16,017,588 (GRCm39) |
T228A |
probably benign |
Het |
| Gm5435 |
A |
T |
12: 82,543,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr156 |
T |
A |
16: 37,825,810 (GRCm39) |
C676S |
probably benign |
Het |
| Gstt3 |
C |
T |
10: 75,610,685 (GRCm39) |
E230K |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,059,747 (GRCm39) |
I660V |
possibly damaging |
Het |
| Kif13a |
A |
G |
13: 46,928,877 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
T |
A |
5: 123,902,254 (GRCm39) |
V299D |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lipk |
T |
A |
19: 33,997,613 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
T |
C |
18: 77,420,378 (GRCm39) |
L334P |
probably damaging |
Het |
| Macc1 |
T |
A |
12: 119,410,212 (GRCm39) |
Y327N |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,010,876 (GRCm39) |
S705L |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,231,707 (GRCm39) |
Q57L |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,522,102 (GRCm39) |
E645G |
probably damaging |
Het |
| Nfatc1 |
A |
T |
18: 80,751,332 (GRCm39) |
M1K |
probably null |
Het |
| Nlrp9b |
A |
T |
7: 19,757,916 (GRCm39) |
R384S |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,780,354 (GRCm39) |
H62R |
possibly damaging |
Het |
| Or2h2b-ps1 |
T |
A |
17: 37,480,891 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,169,803 (GRCm39) |
Y281F |
probably damaging |
Het |
| Or51i1 |
T |
C |
7: 103,671,204 (GRCm39) |
H107R |
probably damaging |
Het |
| Or8b39 |
A |
T |
9: 37,996,422 (GRCm39) |
M97L |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,281,875 (GRCm39) |
I136F |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,462,026 (GRCm39) |
I119T |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,294,762 (GRCm39) |
H215R |
probably damaging |
Het |
| Septin14 |
C |
T |
5: 129,762,978 (GRCm39) |
|
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,299,079 (GRCm39) |
M166T |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,798,816 (GRCm39) |
D279G |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,660,999 (GRCm39) |
I967V |
probably damaging |
Het |
| Tgtp1 |
A |
G |
11: 48,878,003 (GRCm39) |
L234P |
probably damaging |
Het |
| Tmem176a |
A |
G |
6: 48,819,151 (GRCm39) |
D4G |
probably benign |
Het |
| Ugt1a10 |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,330,300 (GRCm39) |
D152G |
probably damaging |
Het |
| Vmn1r35 |
C |
T |
6: 66,656,490 (GRCm39) |
W60* |
probably null |
Het |
| Vmn2r103 |
T |
C |
17: 20,032,433 (GRCm39) |
C736R |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGAGCTCTCCGTGCGG -3'
(R):5'- GCCACAGTAGGGCAAAGGTT -3'
Sequencing Primer
(F):5'- GCTGGTCTGGCCACCTC -3'
(R):5'- CACAGTAGGGCAAAGGTTTCCTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation