Incidental Mutation 'R9698:Camk2d'
| ID |
729415 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R9698 (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 126633833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 452
(H452Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066452]
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000145454]
[ENSMUST00000171289]
[ENSMUST00000199300]
[ENSMUST00000200171]
|
| AlphaFold |
Q6PHZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066452
AA Change: H100Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066996
Gene: ENSMUSG00000053819
AA Change: H100Y
| 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 damaging
Transcript: ENSMUST00000066466
AA Change: H432Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: H432Y
| 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: H452Y
| 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: H418Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: H418Y
| 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: H428Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: H428Y
| 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: H452Y
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: H452Y
| 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: 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 |
|
| SMART Domains |
Protein: ENSMUSP00000130305
Gene: ENSMUSG00000053819
AA Change: H108Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CaMKII_AD
|
37 |
164 |
3.1e-64 |
PFAM |
|
Pfam:DUF4440
|
41 |
155 |
8.8e-13 |
PFAM |
|
Pfam:SnoaL_3
|
41 |
167 |
1.8e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171289
AA Change: H452Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: H452Y
| 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: H418Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: H418Y
| 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: H452Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: H452Y
| 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: 99.7%
- 20x: 99.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,571,757 (GRCm39) |
M1124V |
probably benign |
Het |
| Adamts9 |
A |
G |
6: 92,784,121 (GRCm39) |
C1578R |
probably damaging |
Het |
| Adprs |
T |
C |
4: 126,210,514 (GRCm39) |
D322G |
probably damaging |
Het |
| Anks3 |
T |
C |
16: 4,766,113 (GRCm39) |
E327G |
probably benign |
Het |
| Aspm |
T |
G |
1: 139,389,646 (GRCm39) |
N689K |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,993,170 (GRCm39) |
I861F |
probably damaging |
Het |
| Cerk |
T |
C |
15: 86,026,995 (GRCm39) |
K477E |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,810,044 (GRCm39) |
Y575* |
probably null |
Het |
| Copg2 |
T |
C |
6: 30,838,373 (GRCm39) |
E141G |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 103,985,396 (GRCm39) |
S1224P |
probably damaging |
Het |
| Dhrs3 |
T |
C |
4: 144,646,508 (GRCm39) |
I186T |
possibly damaging |
Het |
| Erich2 |
A |
G |
2: 70,371,055 (GRCm39) |
D431G |
unknown |
Het |
| Fmn2 |
T |
A |
1: 174,364,739 (GRCm39) |
C559S |
unknown |
Het |
| Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
| Hoxa13 |
T |
C |
6: 52,236,024 (GRCm39) |
T174A |
probably benign |
Het |
| Hrh3 |
A |
G |
2: 179,743,206 (GRCm39) |
S141P |
possibly damaging |
Het |
| Hrnr |
T |
C |
3: 93,233,094 (GRCm39) |
S1111P |
unknown |
Het |
| Il12rb1 |
G |
T |
8: 71,263,848 (GRCm39) |
Q136H |
possibly damaging |
Het |
| Kcna3 |
T |
C |
3: 106,944,405 (GRCm39) |
S223P |
probably benign |
Het |
| Map10 |
T |
A |
8: 126,398,723 (GRCm39) |
N705K |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,967,077 (GRCm39) |
V345L |
probably benign |
Het |
| Mcub |
C |
T |
3: 129,710,668 (GRCm39) |
D255N |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mroh3 |
T |
C |
1: 136,114,452 (GRCm39) |
T625A |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,720,681 (GRCm39) |
Y1152C |
probably damaging |
Het |
| Ncdn |
T |
C |
4: 126,643,688 (GRCm39) |
Y378C |
probably damaging |
Het |
| Or1e30 |
T |
C |
11: 73,678,442 (GRCm39) |
L226P |
probably damaging |
Het |
| Or2m13 |
A |
T |
16: 19,226,342 (GRCm39) |
C141* |
probably null |
Het |
| Or55b4 |
G |
A |
7: 102,133,377 (GRCm39) |
Q317* |
probably null |
Het |
| Pcm1 |
T |
C |
8: 41,723,541 (GRCm39) |
L342P |
possibly damaging |
Het |
| Pdlim1 |
T |
A |
19: 40,218,959 (GRCm39) |
D224V |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,925,251 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,744,615 (GRCm39) |
I630V |
probably damaging |
Het |
| Ppil4 |
A |
G |
10: 7,683,033 (GRCm39) |
|
probably null |
Het |
| Ptpru |
A |
T |
4: 131,547,531 (GRCm39) |
I174K |
probably benign |
Het |
| Rab11fip4 |
T |
A |
11: 79,583,592 (GRCm39) |
L612Q |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,618,662 (GRCm39) |
L207P |
probably damaging |
Het |
| Reg3g |
A |
C |
6: 78,444,805 (GRCm39) |
S58A |
probably benign |
Het |
| Ric8b |
T |
C |
10: 84,783,361 (GRCm39) |
L73P |
probably damaging |
Het |
| Rmdn2 |
A |
G |
17: 79,957,729 (GRCm39) |
|
probably null |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc46a2 |
A |
G |
4: 59,912,582 (GRCm39) |
S397P |
probably damaging |
Het |
| Smpd3 |
A |
T |
8: 106,992,296 (GRCm39) |
S86T |
possibly damaging |
Het |
| Sumf1 |
T |
C |
6: 108,131,923 (GRCm39) |
H198R |
probably benign |
Het |
| Tagap1 |
C |
G |
17: 7,228,477 (GRCm39) |
D18H |
probably damaging |
Het |
| Tcf23 |
C |
T |
5: 31,126,225 (GRCm39) |
R35C |
probably damaging |
Het |
| Tdpoz8 |
T |
A |
3: 92,981,727 (GRCm39) |
D174E |
possibly damaging |
Het |
| Tenm3 |
G |
A |
8: 48,689,246 (GRCm39) |
L2114F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,773,718 (GRCm39) |
I2301K |
unknown |
Het |
| Ubr4 |
A |
G |
4: 139,167,975 (GRCm39) |
E1496G |
|
Het |
| Usp48 |
T |
C |
4: 137,361,202 (GRCm39) |
V756A |
possibly damaging |
Het |
| Zfp626 |
A |
G |
7: 27,518,440 (GRCm39) |
I474V |
possibly damaging |
Het |
| Zfpm1 |
T |
A |
8: 123,063,868 (GRCm39) |
S976T |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAAATTGCCTCCCAAGG -3'
(R):5'- CAGCCTAGGAATATTTACTTGATGG -3'
Sequencing Primer
(F):5'- TTATACAATACCCAGCACTCAGTTAG -3'
(R):5'- AATATTTACTTGATGGGTACTGTGGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation