Incidental Mutation 'IGL03347:Camk2d'
ID |
419506 |
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 # |
IGL03347
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126590550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 254
(T254A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000200171]
[ENSMUST00000163226]
[ENSMUST00000171289]
[ENSMUST00000199300]
[ENSMUST00000145454]
[ENSMUST00000134466]
|
AlphaFold |
Q6PHZ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066466
AA Change: T254A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063359 Gene: ENSMUSG00000053819 AA Change: T254A
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
AA Change: T254A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102007 Gene: ENSMUSG00000053819 AA Change: T254A
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: T254A
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000102008 Gene: ENSMUSG00000053819 AA Change: T254A
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: T254A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102009 Gene: ENSMUSG00000053819 AA Change: T254A
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: T254A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102010 Gene: ENSMUSG00000053819 AA Change: T254A
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: ENSMUST00000200171
AA Change: T254A
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143677 Gene: ENSMUSG00000053819 AA Change: T254A
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 damaging
Transcript: ENSMUST00000163226
AA Change: T254A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133019 Gene: ENSMUSG00000053819 AA Change: T254A
Domain | Start | End | E-Value | Type |
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171289
AA Change: T254A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129999 Gene: ENSMUSG00000053819 AA Change: T254A
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 damaging
Transcript: ENSMUST00000199300
AA Change: T254A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143504 Gene: ENSMUSG00000053819 AA Change: T254A
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: 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: ENSMUST00000171950
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147043
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198487
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
T |
A |
9: 30,870,534 (GRCm39) |
S670T |
possibly damaging |
Het |
Adamts9 |
G |
T |
6: 92,864,413 (GRCm39) |
Y185* |
probably null |
Het |
Ahcyl |
A |
G |
16: 45,974,852 (GRCm39) |
V175A |
probably benign |
Het |
Arid3a |
T |
A |
10: 79,787,113 (GRCm39) |
S512R |
possibly damaging |
Het |
Atf6b |
T |
C |
17: 34,872,214 (GRCm39) |
V524A |
probably damaging |
Het |
Camsap2 |
G |
T |
1: 136,208,724 (GRCm39) |
Q923K |
possibly damaging |
Het |
Car10 |
G |
A |
11: 92,991,122 (GRCm39) |
|
probably benign |
Het |
Ccdc39 |
A |
G |
3: 33,891,992 (GRCm39) |
L160P |
probably damaging |
Het |
Cdh20 |
A |
T |
1: 110,065,973 (GRCm39) |
D749V |
possibly damaging |
Het |
Cox6a2 |
A |
T |
7: 127,804,900 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
A |
T |
2: 155,921,096 (GRCm39) |
Y65N |
probably damaging |
Het |
Dnm1 |
T |
C |
2: 32,243,199 (GRCm39) |
D8G |
probably benign |
Het |
Emsy |
A |
G |
7: 98,259,892 (GRCm39) |
S140P |
probably damaging |
Het |
Fam13b |
G |
A |
18: 34,595,104 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,146,737 (GRCm39) |
R2720G |
probably damaging |
Het |
Fkbpl |
A |
G |
17: 34,865,287 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
A |
G |
11: 97,242,664 (GRCm39) |
L60P |
probably damaging |
Het |
Iftap |
A |
G |
2: 101,413,864 (GRCm39) |
|
probably null |
Het |
Igsf10 |
A |
T |
3: 59,239,321 (GRCm39) |
S287T |
possibly damaging |
Het |
Kat2b |
G |
A |
17: 53,931,379 (GRCm39) |
|
probably null |
Het |
Kazald1 |
A |
G |
19: 45,066,855 (GRCm39) |
D218G |
possibly damaging |
Het |
Mbtd1 |
A |
G |
11: 93,814,005 (GRCm39) |
E216G |
probably benign |
Het |
Mtmr9 |
C |
A |
14: 63,781,016 (GRCm39) |
V25L |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,426,120 (GRCm39) |
|
probably null |
Het |
Nfkbil1 |
A |
T |
17: 35,439,559 (GRCm39) |
V318E |
probably damaging |
Het |
Or2ag15 |
A |
T |
7: 106,340,177 (GRCm39) |
|
probably benign |
Het |
Or5g9 |
T |
C |
2: 85,552,151 (GRCm39) |
V134A |
probably benign |
Het |
Pidd1 |
A |
G |
7: 141,019,081 (GRCm39) |
V800A |
probably damaging |
Het |
Ptprs |
G |
A |
17: 56,742,972 (GRCm39) |
S390L |
probably benign |
Het |
Ralgapb |
G |
A |
2: 158,307,880 (GRCm39) |
V729I |
possibly damaging |
Het |
Sfrp5 |
T |
A |
19: 42,187,207 (GRCm39) |
M288L |
probably benign |
Het |
Slc26a1 |
C |
A |
5: 108,821,676 (GRCm39) |
G71V |
probably damaging |
Het |
Srcin1 |
A |
T |
11: 97,416,170 (GRCm39) |
S1021T |
probably damaging |
Het |
Supt6 |
A |
T |
11: 78,123,011 (GRCm39) |
M124K |
possibly damaging |
Het |
Thada |
A |
G |
17: 84,705,633 (GRCm39) |
F1157S |
probably damaging |
Het |
Tmcc2 |
A |
G |
1: 132,285,390 (GRCm39) |
S424P |
probably damaging |
Het |
Trim37 |
G |
A |
11: 87,092,447 (GRCm39) |
R752Q |
possibly damaging |
Het |
Unc80 |
A |
T |
1: 66,734,625 (GRCm39) |
Q238L |
probably damaging |
Het |
Vmn2r23 |
C |
A |
6: 123,681,333 (GRCm39) |
H80Q |
probably benign |
Het |
Wnt9a |
A |
T |
11: 59,221,740 (GRCm39) |
T213S |
probably damaging |
Het |
Zfp953 |
T |
A |
13: 67,491,490 (GRCm39) |
Q154L |
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 |
|
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 |
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 |
2016-08-02 |