Incidental Mutation 'R5958:Camk2d'
| ID |
471272 |
| 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 |
044145-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
R5958 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
126389951-126639975 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to G
at 126573514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066466]
[ENSMUST00000106399]
[ENSMUST00000106400]
[ENSMUST00000106401]
[ENSMUST00000106402]
[ENSMUST00000134466]
[ENSMUST00000145454]
[ENSMUST00000199300]
[ENSMUST00000163226]
[ENSMUST00000200171]
[ENSMUST00000171289]
|
| AlphaFold |
Q6PHZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066466
|
| SMART Domains |
Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
| 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 benign
Transcript: ENSMUST00000106401
|
| SMART Domains |
Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
| 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 benign
Transcript: ENSMUST00000106402
|
| SMART Domains |
Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
| 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 |
noncoding transcript
Transcript: ENSMUST00000134987
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199300
|
| SMART Domains |
Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
| 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: ENSMUST00000163226
|
| SMART Domains |
Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
9.91e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200171
|
| SMART Domains |
Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
| 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 benign
Transcript: ENSMUST00000171289
|
| SMART Domains |
Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
| Validation Efficiency |
95% (75/79) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
C |
19: 57,030,367 (GRCm39) |
D616G |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,069,280 (GRCm39) |
N243S |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,425,822 (GRCm39) |
I417V |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,016,556 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
A |
G |
1: 179,574,107 (GRCm39) |
|
probably benign |
Het |
| Ap1s3 |
G |
T |
1: 79,591,960 (GRCm39) |
T130K |
probably benign |
Het |
| Apold1 |
C |
T |
6: 134,960,686 (GRCm39) |
R47C |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,157,860 (GRCm39) |
K197E |
probably damaging |
Het |
| Ccin |
A |
G |
4: 43,983,854 (GRCm39) |
D87G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,554,383 (GRCm39) |
T889A |
possibly damaging |
Het |
| Cel |
T |
A |
2: 28,450,957 (GRCm39) |
Y102F |
probably damaging |
Het |
| Cma1 |
A |
C |
14: 56,179,113 (GRCm39) |
*248E |
probably null |
Het |
| Cnbd1 |
T |
C |
4: 18,862,056 (GRCm39) |
N378S |
probably benign |
Het |
| Col18a1 |
T |
A |
10: 76,932,231 (GRCm39) |
Y533F |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,520,827 (GRCm39) |
I414T |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,225,788 (GRCm39) |
Y792C |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,651,211 (GRCm39) |
E107D |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,172,415 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,225,131 (GRCm39) |
K1682R |
probably damaging |
Het |
| Epyc |
A |
T |
10: 97,485,704 (GRCm39) |
H48L |
probably benign |
Het |
| Fam135b |
A |
G |
15: 71,334,744 (GRCm39) |
S817P |
|
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,442,429 (GRCm39) |
V693A |
probably benign |
Het |
| Fuom |
A |
T |
7: 139,679,811 (GRCm39) |
F122I |
probably damaging |
Het |
| Glg1 |
G |
T |
8: 111,985,736 (GRCm39) |
H31Q |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,065 (GRCm39) |
|
probably benign |
Het |
| Hdac9 |
G |
T |
12: 34,423,882 (GRCm39) |
Q595K |
probably damaging |
Het |
| Homez |
C |
T |
14: 55,094,298 (GRCm39) |
R119Q |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,589,142 (GRCm39) |
H106R |
probably benign |
Het |
| Ift57 |
C |
T |
16: 49,531,471 (GRCm39) |
|
probably benign |
Het |
| Itk |
A |
T |
11: 46,235,682 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,412,807 (GRCm39) |
K358E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klhdc3 |
A |
T |
17: 46,986,028 (GRCm39) |
V378D |
probably benign |
Het |
| Klhl14 |
A |
G |
18: 21,698,592 (GRCm39) |
I407T |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,979 (GRCm39) |
T476S |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,915,955 (GRCm39) |
V276I |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,411 (GRCm39) |
F103S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,782,016 (GRCm39) |
L1972P |
probably damaging |
Het |
| Pcsk6 |
A |
G |
7: 65,693,359 (GRCm39) |
E3G |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,961,799 (GRCm39) |
L1010S |
probably damaging |
Het |
| Pitpnm3 |
G |
T |
11: 72,003,193 (GRCm39) |
|
probably null |
Het |
| Prrc2b |
A |
G |
2: 32,102,092 (GRCm39) |
M722V |
possibly damaging |
Het |
| Rad18 |
T |
C |
6: 112,673,603 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
C |
9: 80,049,576 (GRCm39) |
S1036P |
probably damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,126,932 (GRCm39) |
A46T |
possibly damaging |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Spag6l |
C |
A |
16: 16,580,885 (GRCm39) |
|
probably null |
Het |
| Strc |
T |
C |
2: 121,207,403 (GRCm39) |
H656R |
possibly damaging |
Het |
| Tanc2 |
A |
G |
11: 105,731,451 (GRCm39) |
D409G |
probably benign |
Het |
| Thap11 |
A |
G |
8: 106,582,696 (GRCm39) |
H235R |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,337,261 (GRCm39) |
Y1252F |
probably benign |
Het |
| Tlr11 |
T |
G |
14: 50,598,234 (GRCm39) |
N73K |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,120,523 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
T |
4: 139,182,949 (GRCm39) |
N445I |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,143,510 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,756,398 (GRCm39) |
F702L |
probably benign |
Het |
| Utp14b |
A |
T |
1: 78,642,659 (GRCm39) |
K186* |
probably null |
Het |
| Utp14b |
A |
T |
1: 78,642,660 (GRCm39) |
K186M |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,510,153 (GRCm39) |
M512K |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,686 (GRCm39) |
M20L |
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 |
|
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 |
|
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'- GGCAAACAATATACTCTTTCTTGCC -3'
(R):5'- ACAAACTCATTGGGCACTGC -3'
Sequencing Primer
(F):5'- CTTTCTTGCCTTTAAGAACAAACAG -3'
(R):5'- CTCATTGGGCACTGCAAAGG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation