Incidental Mutation 'R6999:Camk2b'
ID |
544407 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk2b
|
Ensembl Gene |
ENSMUSG00000057897 |
Gene Name |
calcium/calmodulin-dependent protein kinase II, beta |
Synonyms |
CaMK II |
MMRRC Submission |
045104-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R6999 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
5919644-6016362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 5922321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 556
(R556H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091046
(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: R470H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000002817 Gene: ENSMUSG00000057897 AA Change: R470H
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 |
probably damaging
Transcript: ENSMUST00000019133
AA Change: R633H
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000019133 Gene: ENSMUSG00000057897 AA Change: R633H
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 |
possibly damaging
Transcript: ENSMUST00000066431
AA Change: R446H
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000065101 Gene: ENSMUSG00000057897 AA Change: R446H
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
AA Change: R512H
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000087925 Gene: ENSMUSG00000057897 AA Change: R512H
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: R556H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091046 Gene: ENSMUSG00000057897 AA Change: R556H
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: R485H
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099119 Gene: ENSMUSG00000057897 AA Change: R485H
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: R509H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105438 Gene: ENSMUSG00000057897 AA Change: R509H
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: ENSMUST00000101586
AA Change: R485H
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099120 Gene: ENSMUSG00000057897 AA Change: R485H
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: R496H
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000105437 Gene: ENSMUSG00000057897 AA Change: R496H
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: R509H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105440 Gene: ENSMUSG00000057897 AA Change: R509H
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,356,321 (GRCm39) |
Q629* |
probably null |
Het |
Acss3 |
C |
A |
10: 106,889,362 (GRCm39) |
G153C |
probably damaging |
Het |
Alpk2 |
A |
G |
18: 65,437,584 (GRCm39) |
S1270P |
probably damaging |
Het |
Ankrd10 |
A |
T |
8: 11,669,106 (GRCm39) |
L215Q |
probably damaging |
Het |
Ankrd6 |
A |
G |
4: 32,823,459 (GRCm39) |
S188P |
probably benign |
Het |
Brinp2 |
A |
G |
1: 158,078,875 (GRCm39) |
M316T |
probably benign |
Het |
Bsn |
A |
G |
9: 107,990,632 (GRCm39) |
S1707P |
probably benign |
Het |
C2cd4b |
C |
T |
9: 67,667,571 (GRCm39) |
A189V |
probably benign |
Het |
Cfap126 |
A |
G |
1: 170,953,733 (GRCm39) |
D101G |
possibly damaging |
Het |
Chd5 |
A |
T |
4: 152,458,891 (GRCm39) |
I1085F |
probably damaging |
Het |
Chp2 |
A |
G |
7: 121,821,092 (GRCm39) |
E151G |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,554,402 (GRCm39) |
T370A |
probably benign |
Het |
Chrnb2 |
C |
T |
3: 89,668,622 (GRCm39) |
R231H |
possibly damaging |
Het |
Crisp4 |
T |
A |
1: 18,207,259 (GRCm39) |
I10F |
possibly damaging |
Het |
Csnka2ip |
T |
A |
16: 64,298,933 (GRCm39) |
H477L |
unknown |
Het |
Ctu1 |
T |
A |
7: 43,324,662 (GRCm39) |
F34I |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,168,263 (GRCm39) |
S407T |
possibly damaging |
Het |
Ech1 |
T |
C |
7: 28,529,689 (GRCm39) |
F191L |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,684,064 (GRCm39) |
D60G |
probably damaging |
Het |
Epha6 |
T |
C |
16: 60,245,533 (GRCm39) |
Y222C |
possibly damaging |
Het |
Eppk1 |
A |
T |
15: 75,993,423 (GRCm39) |
W1153R |
probably benign |
Het |
Fbxo4 |
C |
T |
15: 4,007,437 (GRCm39) |
D76N |
probably damaging |
Het |
Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
Gemin5 |
C |
T |
11: 58,015,947 (GRCm39) |
R1352Q |
probably benign |
Het |
Gm9639 |
T |
C |
10: 77,630,525 (GRCm39) |
|
probably benign |
Het |
Gm973 |
C |
A |
1: 59,673,251 (GRCm39) |
Q160K |
unknown |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Grid2 |
A |
T |
6: 64,053,893 (GRCm39) |
Q364L |
possibly damaging |
Het |
Kcnn2 |
T |
G |
18: 45,725,444 (GRCm39) |
S313R |
probably damaging |
Het |
Kera |
T |
C |
10: 97,444,814 (GRCm39) |
Y58H |
probably damaging |
Het |
Meiosin |
A |
G |
7: 18,836,300 (GRCm39) |
|
probably benign |
Het |
Mtfr2 |
T |
C |
10: 20,229,862 (GRCm39) |
L105P |
probably benign |
Het |
Myom2 |
A |
G |
8: 15,134,531 (GRCm39) |
T445A |
probably benign |
Het |
Or2o1 |
A |
G |
11: 49,051,239 (GRCm39) |
R133G |
possibly damaging |
Het |
Or8b1c |
T |
A |
9: 38,384,535 (GRCm39) |
L164Q |
probably damaging |
Het |
Pcdha12 |
T |
C |
18: 37,153,329 (GRCm39) |
L16P |
probably benign |
Het |
Pcdhb10 |
T |
C |
18: 37,546,171 (GRCm39) |
Y416H |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,223,342 (GRCm39) |
Y304C |
possibly damaging |
Het |
Pkd1 |
T |
C |
17: 24,797,475 (GRCm39) |
I2605T |
possibly damaging |
Het |
Pnn |
T |
C |
12: 59,117,085 (GRCm39) |
|
probably null |
Het |
Ppa1 |
G |
A |
10: 61,496,796 (GRCm39) |
G95S |
probably damaging |
Het |
Rapgef4 |
G |
T |
2: 72,069,469 (GRCm39) |
A730S |
probably damaging |
Het |
Scap |
A |
G |
9: 110,213,715 (GRCm39) |
Y1226C |
probably damaging |
Het |
Scn2a |
A |
T |
2: 65,512,453 (GRCm39) |
T197S |
probably benign |
Het |
Slc2a6 |
GCTTCC |
GC |
2: 26,916,047 (GRCm39) |
|
probably null |
Het |
Slc8a3 |
T |
C |
12: 81,361,529 (GRCm39) |
Y430C |
probably benign |
Het |
Tead3 |
T |
C |
17: 28,560,506 (GRCm39) |
T33A |
probably benign |
Het |
Tep1 |
T |
A |
14: 51,088,162 (GRCm39) |
I792F |
possibly damaging |
Het |
Trpm2 |
A |
T |
10: 77,771,725 (GRCm39) |
I638N |
probably damaging |
Het |
Tuba1c |
A |
G |
15: 98,935,193 (GRCm39) |
D218G |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,022,778 (GRCm39) |
W495R |
probably damaging |
Het |
Tut1 |
T |
C |
19: 8,943,382 (GRCm39) |
L823P |
probably damaging |
Het |
Ube2q2l |
T |
C |
6: 136,378,272 (GRCm39) |
N186S |
probably benign |
Het |
Umodl1 |
C |
T |
17: 31,218,097 (GRCm39) |
A1228V |
probably damaging |
Het |
Vmn1r235 |
T |
A |
17: 21,482,127 (GRCm39) |
F151I |
probably benign |
Het |
Vmn2r45 |
T |
A |
7: 8,486,219 (GRCm39) |
K356N |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,710,969 (GRCm39) |
N897K |
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 |
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 |
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'- TATAAGTCGAGCTCAGGACCC -3'
(R):5'- TGTCTATACCCGGTGCTGTC -3'
Sequencing Primer
(F):5'- TGACGACCAACTCCATTGCTG -3'
(R):5'- TGTCCGTTCAGAAAGCCTG -3'
|
Posted On |
2019-05-13 |