Incidental Mutation 'RF023:Camk2b'
ID |
604005 |
Institutional Source |
Beutler Lab
|
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: 0.169)
|
Stock # |
RF023 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
5919644-6016362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5922301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 516
(T516A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002817]
[ENSMUST00000002818]
[ENSMUST00000019133]
[ENSMUST00000066431]
[ENSMUST00000090443]
[ENSMUST00000093355]
[ENSMUST00000101585]
[ENSMUST00000109813]
[ENSMUST00000101586]
[ENSMUST00000109812]
[ENSMUST00000109815]
|
AlphaFold |
P28652 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002817
AA Change: T477A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002817 Gene: ENSMUSG00000057897 AA Change: T477A
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: ENSMUST00000002818
|
SMART Domains |
Protein: ENSMUSP00000002818 Gene: ENSMUSG00000002741
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
39 |
N/A |
INTRINSIC |
Longin
|
43 |
139 |
1.36e-21 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019133
AA Change: T640A
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000019133 Gene: ENSMUSG00000057897 AA Change: T640A
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 damaging
Transcript: ENSMUST00000066431
AA Change: T453A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000065101 Gene: ENSMUSG00000057897 AA Change: T453A
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 damaging
Transcript: ENSMUST00000090443
AA Change: T519A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087925 Gene: ENSMUSG00000057897 AA Change: T519A
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 damaging
Transcript: ENSMUST00000093355
AA Change: T563A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091046 Gene: ENSMUSG00000057897 AA Change: T563A
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: T492A
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099119 Gene: ENSMUSG00000057897 AA Change: T492A
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 damaging
Transcript: ENSMUST00000109813
AA Change: T516A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105438 Gene: ENSMUSG00000057897 AA Change: T516A
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: ENSMUST00000101586
AA Change: T492A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099120 Gene: ENSMUSG00000057897 AA Change: T492A
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 damaging
Transcript: ENSMUST00000109812
AA Change: T503A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105437 Gene: ENSMUSG00000057897 AA Change: T503A
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: ENSMUST00000109815
AA Change: T516A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105440 Gene: ENSMUSG00000057897 AA Change: T516A
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
Validation Efficiency |
96% (24/25) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430401F13Rik |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,818 (GRCm39) |
|
probably benign |
Het |
5430401F13Rik |
AAAAACAGAAAGGAAAAGGTGGCCAG |
AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,841 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG |
TGGCTGTGGCTGTGG |
1: 82,891,117 (GRCm39) |
|
probably benign |
Het |
Amot |
GCAACAGCAAC |
GC |
X: 144,233,999 (GRCm39) |
|
probably benign |
Het |
Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
Arhgef5 |
T |
A |
6: 43,256,407 (GRCm39) |
S1172T |
probably damaging |
Het |
Bltp1 |
T |
TTATTATTATTATTAG |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
Cacna2d4 |
G |
A |
6: 119,245,191 (GRCm39) |
V300I |
probably benign |
Het |
Calhm1 |
GTGGC |
GTGGCTGTGGCTTTGGC |
19: 47,129,712 (GRCm39) |
|
probably benign |
Het |
Ccdc170 |
CCA |
CCAACA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
Cdhr3 |
G |
T |
12: 33,110,348 (GRCm39) |
S312Y |
probably damaging |
Het |
Cdk1 |
C |
T |
10: 69,176,328 (GRCm39) |
G260S |
possibly damaging |
Het |
Cdsn |
AG |
AGACAGGAAGTAGTAGCTCTCAG |
17: 35,865,876 (GRCm39) |
|
probably benign |
Het |
Cenpp |
A |
T |
13: 49,803,620 (GRCm39) |
V88E |
probably benign |
Het |
Cfap46 |
TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC |
TCTTCTCCTTCTCCTTCTCC |
7: 139,218,834 (GRCm39) |
|
|
Het |
Dnah11 |
T |
A |
12: 117,918,585 (GRCm39) |
R3449W |
probably damaging |
Het |
Dnmt1 |
AGTTCCTACCTCGTT |
AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT |
9: 20,821,427 (GRCm39) |
|
probably null |
Het |
E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
Efhd2 |
CCGCCG |
CCGCCGGCGCCG |
4: 141,602,073 (GRCm39) |
|
probably benign |
Het |
Entpd2 |
CTT |
CTTT |
2: 25,290,907 (GRCm39) |
|
probably null |
Het |
Ephx2 |
A |
G |
14: 66,322,378 (GRCm39) |
|
probably null |
Het |
Exd2 |
GCAGCAGCCGCAGCCACAGC |
GCAGC |
12: 80,522,689 (GRCm39) |
|
probably benign |
Het |
Gabre |
GCTC |
GCTCCGTCTC |
X: 71,313,660 (GRCm39) |
|
probably benign |
Het |
H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
Herc1 |
G |
C |
9: 66,365,616 (GRCm39) |
G324R |
|
Het |
Hsdl2 |
CAGCCACAGCTGCAG |
CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG |
4: 59,610,644 (GRCm39) |
|
probably benign |
Het |
Il2 |
GCTTGAAG |
GCTTGAAGCGGGCCTTGAAG |
3: 37,179,969 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CAG |
CAGCCCTAG |
1: 83,019,867 (GRCm39) |
|
probably null |
Het |
Krtap28-10 |
ACAGC |
ACAGCCACGGCCACCGCAGC |
1: 83,020,007 (GRCm39) |
|
probably benign |
Het |
Krtap4-9 |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
11: 99,676,217 (GRCm39) |
|
probably benign |
Het |
Lce1m |
TGCTGCC |
TGCTGCCCCCGCCGCTGCC |
3: 92,925,587 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
TGGTGGTG |
T |
14: 75,185,006 (GRCm39) |
|
probably null |
Het |
Mgam |
C |
T |
6: 40,657,642 (GRCm39) |
T999I |
probably benign |
Het |
Mrtfa |
T |
C |
15: 80,900,057 (GRCm39) |
E740G |
probably damaging |
Het |
Nek1 |
A |
G |
8: 61,525,779 (GRCm39) |
|
probably null |
Het |
Phactr2 |
T |
A |
10: 13,121,178 (GRCm39) |
Q503H |
probably benign |
Het |
Ptprd |
T |
C |
4: 76,046,802 (GRCm39) |
Y241C |
probably damaging |
Het |
Rad51ap2 |
T |
G |
12: 11,508,076 (GRCm39) |
V666G |
possibly damaging |
Het |
Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
Rfx4 |
CTCTCTCTCT |
CTCTCTCTCTCTCTCTCTGTCTCTCTCT |
10: 84,694,349 (GRCm39) |
|
probably benign |
Het |
Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
Rnpc3 |
A |
T |
3: 113,413,723 (GRCm39) |
S240T |
probably damaging |
Het |
Rtbdn |
GCAGCG |
GCAGCGTCAGCG |
8: 85,682,795 (GRCm39) |
|
probably benign |
Het |
Sec31b |
G |
T |
19: 44,524,226 (GRCm39) |
A138D |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,205,482 (GRCm39) |
W3495R |
probably damaging |
Het |
Tgoln1 |
CC |
CCCGTGGGCTTGCCAGAATTACCTTC |
6: 72,593,063 (GRCm39) |
|
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,313,728 (GRCm39) |
H48R |
probably benign |
Het |
Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGATGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
T |
TGCTGCTGCTGCTGCC |
15: 72,673,180 (GRCm39) |
|
probably benign |
Het |
Vsig2 |
T |
A |
9: 37,450,559 (GRCm39) |
|
probably null |
Het |
Wnk2 |
T |
C |
13: 49,300,255 (GRCm39) |
T152A |
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 |
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 |
Z1176:Camk2b
|
UTSW |
11 |
5,927,940 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGACCAACTCCATTGCTG -3'
(R):5'- AAGCCTGCTTGTTCACAGTG -3'
Sequencing Primer
(F):5'- ATTGCTGACCCGCCAAG -3'
(R):5'- GTTCACAGTGCTGGCCAAGAAC -3'
|
Posted On |
2019-12-04 |