Incidental Mutation 'IGL01821:Camk2b'
| ID |
154556 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Camk2b
|
| Ensembl Gene |
ENSMUSG00000057897 |
| Gene Name |
calcium/calmodulin-dependent protein kinase II, beta |
| Synonyms |
CaMK II |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
IGL01821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5919644-6016362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5947890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 112
(D112N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002817]
[ENSMUST00000019133]
[ENSMUST00000066431]
[ENSMUST00000090443]
[ENSMUST00000093355]
[ENSMUST00000101585]
[ENSMUST00000101586]
[ENSMUST00000109812]
[ENSMUST00000109815]
[ENSMUST00000109813]
|
| AlphaFold |
P28652 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002817
AA Change: D112N
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000002817
Gene: ENSMUSG00000057897
AA Change: D112N
| 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: D112N
PolyPhen 2
Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: D112N
| 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: D112N
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065101
Gene: ENSMUSG00000057897
AA Change: D112N
| 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: D112N
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087925
Gene: ENSMUSG00000057897
AA Change: D112N
| 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: D112N
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091046
Gene: ENSMUSG00000057897
AA Change: D112N
| 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: D112N
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897
AA Change: D112N
| 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
AA Change: D112N
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099120
Gene: ENSMUSG00000057897
AA Change: D112N
| 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 |
possibly damaging
Transcript: ENSMUST00000109812
AA Change: D112N
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105437
Gene: ENSMUSG00000057897
AA Change: D112N
| 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 benign
Transcript: ENSMUST00000109815
AA Change: D112N
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897
AA Change: D112N
| 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: ENSMUST00000109813
AA Change: D112N
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897
AA Change: D112N
| 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: ENSMUST00000154197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130427
|
| Coding Region Coverage |
|
| 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 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,917,142 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,482 (GRCm39) |
I3589V |
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,471,031 (GRCm39) |
L56Q |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,771,699 (GRCm39) |
V664A |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,892,369 (GRCm39) |
D119G |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,075,695 (GRCm39) |
F175L |
probably benign |
Het |
| Ifi214 |
T |
C |
1: 173,356,891 (GRCm39) |
I71V |
probably damaging |
Het |
| Igkv17-121 |
G |
A |
6: 68,013,848 (GRCm39) |
C16Y |
unknown |
Het |
| Inpp4a |
T |
C |
1: 37,416,798 (GRCm39) |
S435P |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,353 (GRCm39) |
S153P |
probably damaging |
Het |
| Lactb |
A |
T |
9: 66,878,180 (GRCm39) |
S216R |
probably damaging |
Het |
| Nol7 |
A |
G |
13: 43,552,216 (GRCm39) |
K87R |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,820,933 (GRCm39) |
H159Q |
probably benign |
Het |
| Patj |
G |
T |
4: 98,344,448 (GRCm39) |
G18W |
probably damaging |
Het |
| Pjvk |
G |
T |
2: 76,486,259 (GRCm39) |
G220C |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,819,219 (GRCm39) |
Y1071H |
probably damaging |
Het |
| Psmb8 |
C |
A |
17: 34,417,517 (GRCm39) |
Q49K |
probably benign |
Het |
| Rhcg |
C |
A |
7: 79,248,346 (GRCm39) |
L419F |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,564,601 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,111,003 (GRCm39) |
D607G |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,914,710 (GRCm39) |
L2275F |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,429 (GRCm39) |
D596G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,835 (GRCm39) |
F205L |
probably damaging |
Het |
| Traf7 |
G |
A |
17: 24,729,473 (GRCm39) |
S446F |
probably damaging |
Het |
| Trnt1 |
G |
A |
6: 106,751,436 (GRCm39) |
V138I |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,564,148 (GRCm39) |
Q116L |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,534,520 (GRCm39) |
S480P |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation