Incidental Mutation 'R6269:Camk2b'
| ID |
507235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk2b
|
| Ensembl Gene |
ENSMUSG00000057897 |
| Gene Name |
calcium/calmodulin-dependent protein kinase II, beta |
| Synonyms |
CaMK II |
| MMRRC Submission |
044440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R6269 (G1)
|
| Quality Score |
190.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5919644-6016362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5928497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 414
(D414V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002817]
[ENSMUST00000019133]
[ENSMUST00000066431]
[ENSMUST00000090443]
[ENSMUST00000093355]
[ENSMUST00000101585]
[ENSMUST00000101586]
[ENSMUST00000109812]
[ENSMUST00000109813]
[ENSMUST00000109815]
|
| 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 damaging
Transcript: ENSMUST00000019133
AA Change: D414V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: D414V
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109813
|
| SMART Domains |
Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897
| 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: ENSMUST00000155755
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,941,033 (GRCm39) |
I609N |
unknown |
Het |
| Ano10 |
A |
T |
9: 122,090,308 (GRCm39) |
I277N |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,237,499 (GRCm39) |
D483G |
probably damaging |
Het |
| As3mt |
T |
A |
19: 46,708,391 (GRCm39) |
F226Y |
probably damaging |
Het |
| Atp10a |
G |
A |
7: 58,453,487 (GRCm39) |
R855H |
possibly damaging |
Het |
| Bin3 |
T |
A |
14: 70,374,611 (GRCm39) |
H213Q |
probably benign |
Het |
| Bora |
T |
C |
14: 99,311,103 (GRCm39) |
C512R |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,122,179 (GRCm39) |
L233Q |
unknown |
Het |
| Ccdc73 |
T |
C |
2: 104,737,978 (GRCm39) |
S25P |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,392,117 (GRCm39) |
H572Y |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,111,487 (GRCm39) |
V209A |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,728,524 (GRCm39) |
V650A |
probably benign |
Het |
| Cox6a2 |
T |
A |
7: 127,805,437 (GRCm39) |
S11C |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,656,317 (GRCm39) |
E238G |
probably benign |
Het |
| Cyp2c23 |
T |
A |
19: 44,017,626 (GRCm39) |
M1L |
unknown |
Het |
| Cyp4a10 |
T |
A |
4: 115,381,509 (GRCm39) |
M191K |
probably damaging |
Het |
| Cyp4a14 |
A |
G |
4: 115,348,328 (GRCm39) |
V383A |
possibly damaging |
Het |
| D130052B06Rik |
T |
G |
11: 33,573,916 (GRCm39) |
V171G |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,872,369 (GRCm39) |
T617A |
probably benign |
Het |
| Dyrk4 |
T |
A |
6: 126,863,690 (GRCm39) |
I351F |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,991,585 (GRCm39) |
V94A |
probably benign |
Het |
| Fam111a |
A |
G |
19: 12,565,807 (GRCm39) |
T519A |
probably benign |
Het |
| Gdpd4 |
A |
G |
7: 97,623,669 (GRCm39) |
S314G |
probably damaging |
Het |
| Gm9758 |
T |
A |
5: 14,962,274 (GRCm39) |
K111N |
possibly damaging |
Het |
| Gpr137b |
A |
T |
13: 13,538,096 (GRCm39) |
V285E |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Itgal |
T |
A |
7: 126,929,389 (GRCm39) |
L1102Q |
probably null |
Het |
| Kctd19 |
T |
A |
8: 106,121,992 (GRCm39) |
Y185F |
possibly damaging |
Het |
| Kif5b |
A |
G |
18: 6,223,558 (GRCm39) |
L317P |
possibly damaging |
Het |
| Klhl42 |
C |
A |
6: 146,993,805 (GRCm39) |
A259E |
probably damaging |
Het |
| Lrrc2 |
A |
G |
9: 110,810,017 (GRCm39) |
D351G |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,135,243 (GRCm39) |
E797G |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,489,813 (GRCm39) |
E63G |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,379,103 (GRCm39) |
|
probably null |
Het |
| Or12e8 |
A |
T |
2: 87,677,218 (GRCm39) |
H201L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,557,295 (GRCm39) |
V627I |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,572,108 (GRCm39) |
Q498* |
probably null |
Het |
| Pdlim5 |
T |
C |
3: 142,018,086 (GRCm39) |
T170A |
possibly damaging |
Het |
| Pgap1 |
A |
T |
1: 54,587,167 (GRCm39) |
Y136* |
probably null |
Het |
| Pgghg |
T |
A |
7: 140,526,097 (GRCm39) |
N563K |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,044,916 (GRCm39) |
M1143T |
probably benign |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,959,175 (GRCm39) |
R381Q |
probably damaging |
Het |
| Psph |
A |
T |
5: 129,843,529 (GRCm39) |
I175N |
probably damaging |
Het |
| Rbbp8nl |
T |
A |
2: 179,923,305 (GRCm39) |
K131* |
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sde2 |
G |
A |
1: 180,683,371 (GRCm39) |
V42I |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 90,952,963 (GRCm39) |
R314* |
probably null |
Het |
| Spag9 |
A |
G |
11: 93,935,333 (GRCm39) |
N48S |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,302,757 (GRCm39) |
M351T |
possibly damaging |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,604,342 (GRCm39) |
L679P |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,944 (GRCm39) |
N815K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,509,557 (GRCm39) |
Q54L |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,036 (GRCm39) |
I125K |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,566,679 (GRCm39) |
Y732H |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 120,227,941 (GRCm39) |
S603P |
possibly damaging |
Het |
| Zfp28 |
G |
T |
7: 6,396,612 (GRCm39) |
S349I |
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 |
|
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'- TTGAATGGCCCCTCAGAGAC -3'
(R):5'- AATCCTAGCCTAATGTGTGCAGG -3'
Sequencing Primer
(F):5'- AGAGACTTGCCAGGCCCTTC -3'
(R):5'- TAACACCTACCTTGGGGCGTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation