Incidental Mutation 'IGL02184:Camk2d'
ID |
284275 |
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: 0.205)
|
Stock # |
IGL02184
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126591422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 297
(R297S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000163226]
[ENSMUST00000171289]
[ENSMUST00000199300]
[ENSMUST00000200171]
[ENSMUST00000145454]
[ENSMUST00000134466]
|
AlphaFold |
Q6PHZ2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066466
AA Change: R297S
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063359 Gene: ENSMUSG00000053819 AA Change: R297S
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 damaging
Transcript: ENSMUST00000106399
AA Change: R297S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102007 Gene: ENSMUSG00000053819 AA Change: R297S
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 |
possibly damaging
Transcript: ENSMUST00000106400
AA Change: R297S
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102008 Gene: ENSMUSG00000053819 AA Change: R297S
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 |
possibly damaging
Transcript: ENSMUST00000106401
AA Change: R297S
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102009 Gene: ENSMUSG00000053819 AA Change: R297S
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 |
possibly damaging
Transcript: ENSMUST00000106402
AA Change: R297S
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102010 Gene: ENSMUSG00000053819 AA Change: R297S
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 |
possibly damaging
Transcript: ENSMUST00000163226
AA Change: R297S
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133019 Gene: ENSMUSG00000053819 AA Change: R297S
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171289
AA Change: R297S
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129999 Gene: ENSMUSG00000053819 AA Change: R297S
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 |
possibly damaging
Transcript: ENSMUST00000199300
AA Change: R297S
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143504 Gene: ENSMUSG00000053819 AA Change: R297S
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: R297S
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143677 Gene: ENSMUSG00000053819 AA Change: R297S
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: 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 |
noncoding transcript
Transcript: ENSMUST00000171950
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147043
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197660
|
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 |
|
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 |
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
C |
T |
3: 89,253,241 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
Aopep |
T |
G |
13: 63,215,925 (GRCm39) |
I399S |
possibly damaging |
Het |
Atp8b3 |
A |
C |
10: 80,363,067 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,815,029 (GRCm39) |
M1417K |
probably damaging |
Het |
Cntnap1 |
A |
T |
11: 101,069,191 (GRCm39) |
H215L |
probably damaging |
Het |
Cytip |
T |
C |
2: 58,023,750 (GRCm39) |
S357G |
probably damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,287,951 (GRCm39) |
R101G |
probably benign |
Het |
Fancg |
A |
G |
4: 43,006,872 (GRCm39) |
Y273H |
possibly damaging |
Het |
Fbxo36 |
A |
G |
1: 84,858,885 (GRCm39) |
S57G |
probably benign |
Het |
Fgf8 |
A |
T |
19: 45,725,655 (GRCm39) |
L141Q |
probably damaging |
Het |
Grm5 |
C |
T |
7: 87,675,650 (GRCm39) |
T388M |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,666,066 (GRCm39) |
L589P |
possibly damaging |
Het |
Kiz |
T |
C |
2: 146,731,520 (GRCm39) |
S337P |
probably benign |
Het |
Lrrc37a |
A |
T |
11: 103,388,435 (GRCm39) |
I2330K |
unknown |
Het |
Mdfic |
T |
A |
6: 15,770,366 (GRCm39) |
I124K |
possibly damaging |
Het |
Mdfic2 |
T |
C |
6: 98,225,059 (GRCm39) |
S75G |
possibly damaging |
Het |
Mttp |
A |
G |
3: 137,821,761 (GRCm39) |
|
probably null |
Het |
Myom1 |
G |
A |
17: 71,379,132 (GRCm39) |
S632N |
possibly damaging |
Het |
Nlrp12 |
T |
C |
7: 3,289,094 (GRCm39) |
K473E |
probably damaging |
Het |
Nrp2 |
C |
A |
1: 62,758,099 (GRCm39) |
C28* |
probably null |
Het |
Nwd2 |
G |
T |
5: 63,963,020 (GRCm39) |
G868V |
probably damaging |
Het |
Or4a73 |
G |
A |
2: 89,420,637 (GRCm39) |
T274I |
probably damaging |
Het |
Or4c58 |
G |
A |
2: 89,674,729 (GRCm39) |
A196V |
probably damaging |
Het |
Or5w1 |
A |
G |
2: 87,487,136 (GRCm39) |
L43P |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,258,928 (GRCm39) |
M1559L |
possibly damaging |
Het |
Pmm2 |
T |
A |
16: 8,455,668 (GRCm39) |
D10E |
possibly damaging |
Het |
Polm |
T |
C |
11: 5,780,137 (GRCm39) |
Q300R |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,111,467 (GRCm39) |
N1208K |
probably benign |
Het |
Serpinb3c |
T |
C |
1: 107,199,648 (GRCm39) |
D291G |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,259,810 (GRCm39) |
K37E |
probably damaging |
Het |
Slc1a2 |
T |
C |
2: 102,578,889 (GRCm39) |
F268S |
probably damaging |
Het |
Slc26a4 |
A |
G |
12: 31,599,948 (GRCm39) |
Y127H |
probably damaging |
Het |
Slc29a4 |
A |
G |
5: 142,703,506 (GRCm39) |
Y260C |
probably damaging |
Het |
Sorbs3 |
C |
T |
14: 70,421,455 (GRCm39) |
|
probably null |
Het |
Spen |
T |
C |
4: 141,214,917 (GRCm39) |
Y534C |
unknown |
Het |
Tmem237 |
T |
C |
1: 59,159,270 (GRCm39) |
|
probably null |
Het |
Tnfrsf21 |
A |
T |
17: 43,396,354 (GRCm39) |
N546I |
probably benign |
Het |
Tpgs2 |
T |
A |
18: 25,273,630 (GRCm39) |
D177V |
probably damaging |
Het |
Tpx2 |
C |
T |
2: 152,724,240 (GRCm39) |
R339* |
probably null |
Het |
Trim12c |
T |
C |
7: 103,997,430 (GRCm39) |
Y42C |
probably benign |
Het |
Trip10 |
A |
T |
17: 57,564,272 (GRCm39) |
E341V |
probably damaging |
Het |
Trpm8 |
A |
T |
1: 88,258,416 (GRCm39) |
|
probably null |
Het |
Ubr1 |
T |
A |
2: 120,730,989 (GRCm39) |
I1221F |
probably benign |
Het |
Ucp2 |
C |
T |
7: 100,148,529 (GRCm39) |
A301V |
probably benign |
Het |
Zfyve1 |
T |
C |
12: 83,605,467 (GRCm39) |
I411V |
probably benign |
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 |
|
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 |
2015-04-16 |