Incidental Mutation 'R8249:Camk2d'
| ID |
640315 |
| 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 |
067649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R8249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 126591378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 283
(H283Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000134466]
[ENSMUST00000145454]
[ENSMUST00000163226]
[ENSMUST00000171289]
[ENSMUST00000199300]
[ENSMUST00000200171]
|
| AlphaFold |
Q6PHZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066466
AA Change: H283Y
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: H283Y
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: H283Y
| 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
AA Change: H283Y
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: H283Y
| 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: H283Y
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: H283Y
| 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: H283Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: H283Y
| 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 |
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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163226
AA Change: H283Y
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819
AA Change: H283Y
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171289
AA Change: H283Y
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: H283Y
| 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: H283Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: H283Y
| 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
AA Change: H283Y
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: H283Y
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,360,971 (GRCm39) |
S441P |
probably benign |
Het |
| Adck2 |
C |
T |
6: 39,562,667 (GRCm39) |
R513* |
probably null |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,027,635 (GRCm39) |
I736N |
probably damaging |
Het |
| AW554918 |
C |
T |
18: 25,472,775 (GRCm39) |
T193I |
probably benign |
Het |
| Bscl2 |
T |
C |
19: 8,823,884 (GRCm39) |
Y270H |
probably damaging |
Het |
| Btd |
T |
C |
14: 31,387,905 (GRCm39) |
Y112H |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,737 (GRCm39) |
Y259C |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 162,305,312 (GRCm39) |
C27* |
probably null |
Het |
| Fbxo48 |
T |
A |
11: 16,903,433 (GRCm39) |
S20T |
possibly damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,378,806 (GRCm39) |
S14P |
possibly damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,933,932 (GRCm39) |
F730L |
probably benign |
Het |
| Gm136 |
C |
A |
4: 34,750,955 (GRCm39) |
R106L |
probably benign |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,144,663 (GRCm39) |
R621Q |
probably damaging |
Het |
| H2-M11 |
T |
A |
17: 36,859,900 (GRCm39) |
W298R |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,921,054 (GRCm39) |
I209F |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,695,117 (GRCm39) |
N262K |
probably benign |
Het |
| Hycc2 |
G |
A |
1: 58,573,796 (GRCm39) |
S336L |
probably benign |
Het |
| Ifit1 |
T |
A |
19: 34,618,389 (GRCm39) |
|
probably null |
Het |
| Ighv1-85 |
T |
C |
12: 115,963,844 (GRCm39) |
D52G |
probably benign |
Het |
| Kit |
T |
C |
5: 75,802,068 (GRCm39) |
V657A |
probably damaging |
Het |
| Krt32 |
T |
C |
11: 99,977,548 (GRCm39) |
I173V |
probably benign |
Het |
| Lrfn3 |
GC |
GCCAGGGGAGGTGAGCGGTGGGTCACCTCCC |
7: 30,059,298 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
C |
A |
10: 127,441,412 (GRCm39) |
S237I |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,827,551 (GRCm39) |
D33G |
unknown |
Het |
| Mroh7 |
T |
C |
4: 106,578,409 (GRCm39) |
T90A |
probably benign |
Het |
| Mterf1a |
A |
C |
5: 3,941,550 (GRCm39) |
I106S |
probably damaging |
Het |
| Mtrf1 |
C |
A |
14: 79,638,919 (GRCm39) |
A17E |
probably benign |
Het |
| Musk |
T |
G |
4: 58,368,926 (GRCm39) |
L635R |
probably damaging |
Het |
| Naxe |
A |
T |
3: 87,965,695 (GRCm39) |
W35R |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,074,778 (GRCm39) |
K806* |
probably null |
Het |
| Pi4k2a |
A |
G |
19: 42,103,501 (GRCm39) |
E337G |
probably benign |
Het |
| Pwwp2b |
G |
T |
7: 138,834,759 (GRCm39) |
G67C |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Scn10a |
T |
A |
9: 119,446,840 (GRCm39) |
Y1396F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,173,770 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
C |
T |
12: 103,660,027 (GRCm39) |
G85E |
probably damaging |
Het |
| Tceanc2 |
G |
A |
4: 107,036,190 (GRCm39) |
|
probably benign |
Het |
| Tmem156 |
T |
A |
5: 65,232,969 (GRCm39) |
R186* |
probably null |
Het |
| Trbv16 |
A |
G |
6: 41,128,932 (GRCm39) |
T39A |
possibly damaging |
Het |
| Tti1 |
C |
G |
2: 157,842,635 (GRCm39) |
S798T |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,658,650 (GRCm39) |
M1656L |
probably benign |
Het |
| Wnt2 |
C |
A |
6: 18,030,284 (GRCm39) |
M1I |
probably null |
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 |
|
|
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 |
|
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'- GTGTTTAAGCTCAGTCACTAGC -3'
(R):5'- GCTTGATTATGGAGCATGCTC -3'
Sequencing Primer
(F):5'- CACTAGCAATCTTTATAAAACCATGC -3'
(R):5'- TCGGATCCAGGACTGACTACTGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation