Incidental Mutation 'R3828:Camk2b'
ID |
273858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk2b
|
Ensembl Gene |
ENSMUSG00000057897 |
Gene Name |
calcium/calmodulin-dependent protein kinase II, beta |
Synonyms |
CaMK II |
MMRRC Submission |
040886-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R3828 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
5919644-6016362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5978932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 32
(V32A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002817]
[ENSMUST00000019133]
[ENSMUST00000066431]
[ENSMUST00000090443]
[ENSMUST00000093355]
[ENSMUST00000101585]
[ENSMUST00000101586]
[ENSMUST00000109812]
[ENSMUST00000109813]
[ENSMUST00000109815]
|
AlphaFold |
P28652 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002817
AA Change: V32A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002817 Gene: ENSMUSG00000057897 AA Change: V32A
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 |
possibly damaging
Transcript: ENSMUST00000019133
AA Change: V32A
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000019133 Gene: ENSMUSG00000057897 AA Change: V32A
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
AA Change: V32A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000065101 Gene: ENSMUSG00000057897 AA Change: V32A
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 |
possibly damaging
Transcript: ENSMUST00000090443
AA Change: V32A
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087925 Gene: ENSMUSG00000057897 AA Change: V32A
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 |
possibly damaging
Transcript: ENSMUST00000093355
AA Change: V32A
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000091046 Gene: ENSMUSG00000057897 AA Change: V32A
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 |
possibly damaging
Transcript: ENSMUST00000101585
AA Change: V32A
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099119 Gene: ENSMUSG00000057897 AA Change: V32A
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 |
noncoding transcript
Transcript: ENSMUST00000123391
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101586
AA Change: V32A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000099120 Gene: ENSMUSG00000057897 AA Change: V32A
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: ENSMUST00000109812
AA Change: V32A
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000105437 Gene: ENSMUSG00000057897 AA Change: V32A
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109813
AA Change: V32A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105438 Gene: ENSMUSG00000057897 AA Change: V32A
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 damaging
Transcript: ENSMUST00000109815
AA Change: V32A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105440 Gene: ENSMUSG00000057897 AA Change: V32A
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: ENSMUST00000129098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154197
|
Meta Mutation Damage Score |
0.1523 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (34/34) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
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 |
R4283:Camk2b
|
UTSW |
11 |
5,937,099 (GRCm39) |
missense |
probably benign |
0.39 |
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'- ACCATCTTGAAGGCAATGACAC -3'
(R):5'- CCACAAGAGTATATGTGTGGCC -3'
Sequencing Primer
(F):5'- TCTTGAAGGCAATGACACTCCTG -3'
(R):5'- ACAAGAGTATATGTGTGGCCCTGTC -3'
|
Posted On |
2015-04-02 |