Incidental Mutation 'R2421:Camk2d'
| ID |
249270 |
| 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 |
040383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R2421 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126574064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 157
(D157G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000171289]
[ENSMUST00000163226]
[ENSMUST00000199300]
[ENSMUST00000200171]
[ENSMUST00000134466]
[ENSMUST00000145454]
|
| AlphaFold |
Q6PHZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066466
AA Change: D157G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: D157G
| 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 |
possibly damaging
Transcript: ENSMUST00000106399
AA Change: D157G
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: D157G
| 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 damaging
Transcript: ENSMUST00000106400
AA Change: D157G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: D157G
| 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 damaging
Transcript: ENSMUST00000106401
AA Change: D157G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: D157G
| 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 damaging
Transcript: ENSMUST00000106402
AA Change: D157G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: D157G
| 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 damaging
Transcript: ENSMUST00000171289
AA Change: D157G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: D157G
| 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: ENSMUST00000134987
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163226
AA Change: D157G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199300
AA Change: D157G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: D157G
| 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 damaging
Transcript: ENSMUST00000200171
AA Change: D157G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: D157G
| 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: ENSMUST00000171950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147043
|
| 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: 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 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 |
|
| Meta Mutation Damage Score |
0.9686 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (81/84) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
C |
T |
5: 100,960,040 (GRCm39) |
R104H |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,831,034 (GRCm39) |
S1007P |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,386,166 (GRCm39) |
L1118Q |
probably damaging |
Het |
| Adgre4 |
A |
G |
17: 56,085,872 (GRCm39) |
E57G |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,687 (GRCm39) |
S1036G |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,818,034 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,646,722 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,793,646 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,856,585 (GRCm39) |
V874D |
probably damaging |
Het |
| Arhgap39 |
T |
A |
15: 76,609,346 (GRCm39) |
T1025S |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,912,302 (GRCm39) |
C519S |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,416,225 (GRCm39) |
V1512M |
possibly damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,168,643 (GRCm39) |
T449A |
probably benign |
Het |
| Atxn2 |
A |
T |
5: 121,940,142 (GRCm39) |
|
probably null |
Het |
| Birc6 |
T |
A |
17: 74,967,609 (GRCm39) |
L301Q |
probably damaging |
Het |
| Ccdc122 |
T |
C |
14: 77,329,103 (GRCm39) |
|
probably benign |
Het |
| Ccdc137 |
G |
A |
11: 120,353,090 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
A |
C |
5: 108,376,454 (GRCm39) |
E1298D |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,647,996 (GRCm39) |
|
probably benign |
Het |
| Coq10b |
G |
A |
1: 55,092,136 (GRCm39) |
A35T |
probably benign |
Het |
| Cracdl |
C |
A |
1: 37,652,556 (GRCm39) |
V1084L |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,927,652 (GRCm39) |
I47V |
probably benign |
Het |
| Csgalnact1 |
A |
T |
8: 68,914,160 (GRCm39) |
I15N |
probably benign |
Het |
| Dcp1b |
A |
G |
6: 119,192,227 (GRCm39) |
Q381R |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,462,021 (GRCm39) |
S127P |
probably benign |
Het |
| Dnal1 |
C |
T |
12: 84,183,480 (GRCm39) |
Q80* |
probably null |
Het |
| Dtd2 |
A |
G |
12: 52,046,638 (GRCm39) |
V67A |
probably benign |
Het |
| Gart |
A |
G |
16: 91,439,928 (GRCm39) |
|
probably null |
Het |
| Gm17421 |
T |
A |
12: 113,333,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6327 |
T |
C |
16: 12,577,958 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
T |
C |
13: 50,054,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr107 |
G |
A |
2: 31,075,541 (GRCm39) |
G351S |
probably damaging |
Het |
| H2-M10.5 |
A |
G |
17: 37,085,891 (GRCm39) |
I308V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,877 (GRCm39) |
L159Q |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,855,699 (GRCm39) |
E704G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,057,548 (GRCm39) |
M541L |
probably benign |
Het |
| Lenep |
G |
A |
3: 89,309,881 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
C |
2: 40,772,145 (GRCm39) |
|
probably benign |
Het |
| Ly6g6e |
G |
A |
17: 35,297,122 (GRCm39) |
R121Q |
probably benign |
Het |
| Lyn |
C |
T |
4: 3,748,787 (GRCm39) |
A255V |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,723,621 (GRCm39) |
I2519K |
probably damaging |
Het |
| Mmaa |
T |
A |
8: 80,008,061 (GRCm39) |
R59W |
probably damaging |
Het |
| Ms4a4b |
A |
G |
19: 11,432,061 (GRCm39) |
I61V |
possibly damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,486,218 (GRCm39) |
E298G |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,824 (GRCm39) |
L81P |
possibly damaging |
Het |
| Or13a1 |
T |
A |
6: 116,470,674 (GRCm39) |
C35S |
probably benign |
Het |
| Or4c114 |
T |
C |
2: 88,905,336 (GRCm39) |
Y33C |
possibly damaging |
Het |
| Or5k15 |
T |
C |
16: 58,710,328 (GRCm39) |
E85G |
probably benign |
Het |
| Or5k8 |
T |
C |
16: 58,644,709 (GRCm39) |
D121G |
probably damaging |
Het |
| Pef1 |
C |
A |
4: 130,021,110 (GRCm39) |
C221* |
probably null |
Het |
| Plekhg1 |
G |
A |
10: 3,908,048 (GRCm39) |
M988I |
probably benign |
Het |
| Pnliprp1 |
T |
A |
19: 58,732,517 (GRCm39) |
I460N |
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,255,138 (GRCm39) |
N239S |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,912 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
A |
15: 10,319,343 (GRCm39) |
W91R |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,478,856 (GRCm39) |
|
probably null |
Het |
| Ptprt |
T |
A |
2: 162,119,960 (GRCm39) |
|
probably benign |
Het |
| Pttg1ip2 |
T |
C |
5: 5,505,912 (GRCm39) |
Y123C |
probably benign |
Het |
| Rbm12b2 |
T |
C |
4: 12,095,127 (GRCm39) |
F662S |
possibly damaging |
Het |
| Rgs6 |
C |
A |
12: 83,163,057 (GRCm39) |
T421K |
possibly damaging |
Het |
| Ryr2 |
T |
G |
13: 11,606,123 (GRCm39) |
Q4486H |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,556,646 (GRCm39) |
|
probably benign |
Het |
| Smc1a |
A |
G |
X: 150,830,971 (GRCm39) |
|
probably benign |
Het |
| Synrg |
A |
G |
11: 83,900,050 (GRCm39) |
E674G |
probably damaging |
Het |
| Syt9 |
G |
A |
7: 107,035,988 (GRCm39) |
R335K |
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,868,415 (GRCm39) |
N322S |
probably damaging |
Het |
| Tfb2m |
C |
A |
1: 179,361,231 (GRCm39) |
W252C |
possibly damaging |
Het |
| Tmub2 |
T |
A |
11: 102,178,581 (GRCm39) |
D161E |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Tyw1 |
A |
T |
5: 130,298,101 (GRCm39) |
H214L |
probably damaging |
Het |
| Tyw5 |
A |
G |
1: 57,435,907 (GRCm39) |
I82T |
possibly damaging |
Het |
| Uba6 |
A |
G |
5: 86,280,475 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,838,829 (GRCm39) |
Y674C |
probably damaging |
Het |
| Vangl2 |
T |
C |
1: 171,835,526 (GRCm39) |
Y382C |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,097 (GRCm39) |
R242S |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,398 (GRCm39) |
Y605H |
probably benign |
Het |
| Vps13a |
T |
G |
19: 16,737,035 (GRCm39) |
I101L |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,415,385 (GRCm39) |
F792I |
probably damaging |
Het |
| Wdhd1 |
G |
A |
14: 47,496,041 (GRCm39) |
H608Y |
probably benign |
Het |
| Wdr48 |
T |
A |
9: 119,731,470 (GRCm39) |
I56K |
probably damaging |
Het |
| Xpo4 |
T |
C |
14: 57,866,960 (GRCm39) |
D194G |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,785,110 (GRCm39) |
M479T |
possibly damaging |
Het |
| Zfp821 |
T |
A |
8: 110,436,165 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
A |
G |
14: 20,769,525 (GRCm39) |
Y1237C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGTGCATGAGTTTGCTTCC -3'
(R):5'- GGGATCCAGTGTGTTAAAATTAGTG -3'
Sequencing Primer
(F):5'- CTGCCCTGTTTAATCTTGTACAAATG -3'
(R):5'- GAAGATGTTGCTAGAGTCCCC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation