Incidental Mutation 'R4283:Camk2b'
| ID |
321959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk2b
|
| Ensembl Gene |
ENSMUSG00000057897 |
| Gene Name |
calcium/calmodulin-dependent protein kinase II, beta |
| Synonyms |
CaMK II |
| MMRRC Submission |
041651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R4283 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
5919644-6016362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 5937099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 327
(S327A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002817]
[ENSMUST00000019133]
[ENSMUST00000066431]
[ENSMUST00000090443]
[ENSMUST00000093355]
[ENSMUST00000101585]
[ENSMUST00000101586]
[ENSMUST00000109813]
[ENSMUST00000109815]
[ENSMUST00000109812]
|
| AlphaFold |
P28652 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002817
|
| SMART Domains |
Protein: ENSMUSP00000002817
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
Pfam:CaMKII_AD
|
371 |
498 |
5.3e-63 |
PFAM |
|
Pfam:DUF4440
|
375 |
489 |
2.8e-15 |
PFAM |
|
Pfam:SnoaL_3
|
375 |
500 |
2.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019133
AA Change: S327A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: S327A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
533 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
534 |
661 |
3.7e-62 |
PFAM |
|
Pfam:DUF4440
|
538 |
652 |
1.6e-13 |
PFAM |
|
Pfam:SnoaL_3
|
538 |
663 |
4.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066431
|
| SMART Domains |
Protein: ENSMUSP00000065101
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
Pfam:CaMKII_AD
|
347 |
474 |
4.8e-63 |
PFAM |
|
Pfam:DUF4440
|
351 |
465 |
2.6e-15 |
PFAM |
|
Pfam:SnoaL_3
|
351 |
476 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090443
|
| SMART Domains |
Protein: ENSMUSP00000087925
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
390 |
412 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
413 |
540 |
6.1e-63 |
PFAM |
|
Pfam:DUF4440
|
417 |
531 |
3.2e-15 |
PFAM |
|
Pfam:SnoaL_3
|
417 |
542 |
2.5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093355
|
| SMART Domains |
Protein: ENSMUSP00000091046
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
internal_repeat_1
|
373 |
388 |
8.07e-7 |
PROSPERO |
|
low complexity region
|
391 |
414 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
416 |
431 |
8.07e-7 |
PROSPERO |
|
low complexity region
|
434 |
456 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
457 |
584 |
5.8e-63 |
PFAM |
|
Pfam:DUF4440
|
461 |
575 |
6.7e-15 |
PFAM |
|
Pfam:SnoaL_3
|
461 |
586 |
4.8e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101585
AA Change: S327A
PolyPhen 2
Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897
AA Change: S327A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
386 |
513 |
5.6e-63 |
PFAM |
|
Pfam:DUF4440
|
390 |
504 |
3e-15 |
PFAM |
|
Pfam:SnoaL_3
|
390 |
515 |
2.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101586
|
| SMART Domains |
Protein: ENSMUSP00000099120
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
Pfam:CaMKII_AD
|
386 |
513 |
5.6e-63 |
PFAM |
|
Pfam:DUF4440
|
390 |
504 |
3e-15 |
PFAM |
|
Pfam:SnoaL_3
|
390 |
515 |
2.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109813
AA Change: S327A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897
AA Change: S327A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
410 |
537 |
1.4e-62 |
PFAM |
|
Pfam:DUF4440
|
414 |
528 |
5.9e-15 |
PFAM |
|
Pfam:SnoaL_3
|
414 |
539 |
5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109815
AA Change: S327A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897
AA Change: S327A
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
272 |
1.37e-103 |
SMART |
|
low complexity region
|
320 |
336 |
N/A |
INTRINSIC |
|
Pfam:CaMKII_AD
|
410 |
537 |
1.4e-62 |
PFAM |
|
Pfam:DUF4440
|
414 |
528 |
5.9e-15 |
PFAM |
|
Pfam:SnoaL_3
|
414 |
539 |
5e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109812
|
| SMART Domains |
Protein: ENSMUSP00000105437
Gene: ENSMUSG00000057897
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
14 |
283 |
5.98e-95 |
SMART |
|
Pfam:CaMKII_AD
|
397 |
524 |
5.8e-63 |
PFAM |
|
Pfam:DUF4440
|
401 |
515 |
3.1e-15 |
PFAM |
|
Pfam:SnoaL_3
|
401 |
526 |
2.4e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.0599 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (41/41) |
| 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 beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit reversal of plasticity direction at parallel fiber-Purkinje cell synapses. Mice homozygous for a different null allele show motor impairments, including ataxia, altered body mass composition, a reduction in anxiety-related behavior, and cognitive deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,697,087 (GRCm39) |
T229A |
probably benign |
Het |
| Adgrg5 |
T |
G |
8: 95,664,326 (GRCm39) |
V312G |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Card9 |
A |
G |
2: 26,247,309 (GRCm39) |
I280T |
possibly damaging |
Het |
| Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
| Cga |
T |
C |
4: 34,905,264 (GRCm39) |
|
probably null |
Het |
| Copg1 |
C |
T |
6: 87,885,527 (GRCm39) |
T723M |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,166,543 (GRCm39) |
|
probably benign |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Ghr |
C |
A |
15: 3,362,930 (GRCm39) |
V181L |
possibly damaging |
Het |
| Gm10750 |
A |
G |
2: 148,857,916 (GRCm39) |
F112L |
unknown |
Het |
| Gm17541 |
A |
G |
12: 4,739,656 (GRCm39) |
|
probably benign |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Hdac10 |
A |
G |
15: 89,009,826 (GRCm39) |
L402P |
possibly damaging |
Het |
| Hsd17b12 |
G |
C |
2: 93,863,931 (GRCm39) |
R304G |
unknown |
Het |
| Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
| Ncaph |
A |
G |
2: 126,963,005 (GRCm39) |
|
probably benign |
Het |
| Ninl |
T |
C |
2: 150,795,336 (GRCm39) |
|
probably benign |
Het |
| Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
| Pcsk4 |
C |
A |
10: 80,165,287 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,699,734 (GRCm39) |
E60G |
probably damaging |
Het |
| Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,294,824 (GRCm39) |
Y177C |
probably damaging |
Het |
| Tas2r104 |
C |
T |
6: 131,662,374 (GRCm39) |
A112T |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
| Tas2r143 |
T |
A |
6: 42,378,007 (GRCm39) |
|
probably null |
Het |
| Tfeb |
A |
G |
17: 48,100,699 (GRCm39) |
E305G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 5,978,369 (GRCm39) |
N411S |
unknown |
Het |
| Vmn2r52 |
C |
T |
7: 9,904,565 (GRCm39) |
G425R |
possibly damaging |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
probably damaging |
Het |
|
| Other mutations in Camk2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Camk2b
|
APN |
11 |
5,922,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01821:Camk2b
|
APN |
11 |
5,947,890 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02219:Camk2b
|
APN |
11 |
5,926,872 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02890:Camk2b
|
APN |
11 |
5,951,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1645:Camk2b
|
UTSW |
11 |
5,922,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Camk2b
|
UTSW |
11 |
5,927,880 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1836:Camk2b
|
UTSW |
11 |
5,922,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Camk2b
|
UTSW |
11 |
5,927,880 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3828:Camk2b
|
UTSW |
11 |
5,978,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5919:Camk2b
|
UTSW |
11 |
5,929,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Camk2b
|
UTSW |
11 |
5,939,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6269:Camk2b
|
UTSW |
11 |
5,928,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6595:Camk2b
|
UTSW |
11 |
5,942,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Camk2b
|
UTSW |
11 |
5,922,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Camk2b
|
UTSW |
11 |
5,939,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Camk2b
|
UTSW |
11 |
5,928,432 (GRCm39) |
missense |
probably benign |
|
|
R7798:Camk2b
|
UTSW |
11 |
5,928,399 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7818:Camk2b
|
UTSW |
11 |
5,927,812 (GRCm39) |
missense |
probably benign |
|
|
R8342:Camk2b
|
UTSW |
11 |
5,940,383 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8388:Camk2b
|
UTSW |
11 |
5,939,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8850:Camk2b
|
UTSW |
11 |
5,922,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9180:Camk2b
|
UTSW |
11 |
5,939,332 (GRCm39) |
nonsense |
probably null |
|
|
R9319:Camk2b
|
UTSW |
11 |
5,927,814 (GRCm39) |
missense |
probably benign |
|
|
R9493:Camk2b
|
UTSW |
11 |
5,929,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9725:Camk2b
|
UTSW |
11 |
5,922,634 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9800:Camk2b
|
UTSW |
11 |
5,922,408 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF023:Camk2b
|
UTSW |
11 |
5,922,301 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Camk2b
|
UTSW |
11 |
5,927,940 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGAGGGGCAGCCTTATTG -3'
(R):5'- AAAGGGATTCTGGAGCCATC -3'
Sequencing Primer
(F):5'- AGCCTTATTGCCCAGGGTG -3'
(R):5'- GATTCTGGAGCCATCCCCCAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation