Incidental Mutation 'R9725:Camk2b'
ID |
730995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk2b
|
Ensembl Gene |
ENSMUSG00000057897 |
Gene Name |
calcium/calmodulin-dependent protein kinase II, beta |
Synonyms |
CaMK II |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R9725 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
5919644-6016362 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5922634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 465
(N465S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002817]
[ENSMUST00000002818]
[ENSMUST00000019133]
[ENSMUST00000066431]
[ENSMUST00000090443]
[ENSMUST00000093355]
[ENSMUST00000109813]
[ENSMUST00000101585]
[ENSMUST00000101586]
[ENSMUST00000109812]
[ENSMUST00000109815]
|
AlphaFold |
P28652 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002817
AA Change: N426S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002817 Gene: ENSMUSG00000057897 AA Change: N426S
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: N589S
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000019133 Gene: ENSMUSG00000057897 AA Change: N589S
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: N402S
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000065101 Gene: ENSMUSG00000057897 AA Change: N402S
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: N468S
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000087925 Gene: ENSMUSG00000057897 AA Change: N468S
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
AA Change: N512S
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000091046 Gene: ENSMUSG00000057897 AA Change: N512S
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: ENSMUST00000109813
AA Change: N465S
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105438 Gene: ENSMUSG00000057897 AA Change: N465S
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: ENSMUST00000101585
AA Change: N441S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099119 Gene: ENSMUSG00000057897 AA Change: N441S
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: N441S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099120 Gene: ENSMUSG00000057897 AA Change: N441S
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: N452S
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000105437 Gene: ENSMUSG00000057897 AA Change: N452S
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 |
possibly damaging
Transcript: ENSMUST00000109815
AA Change: N465S
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105440 Gene: ENSMUSG00000057897 AA Change: N465S
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: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
G |
16: 14,290,797 (GRCm39) |
I1469S |
possibly damaging |
Het |
Aff1 |
A |
T |
5: 103,994,931 (GRCm39) |
D1043V |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,991,607 (GRCm39) |
I4297N |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
Carns1 |
A |
G |
19: 4,216,548 (GRCm39) |
S545P |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,432,561 (GRCm39) |
Q121L |
probably benign |
Het |
Cfap221 |
G |
T |
1: 119,862,352 (GRCm39) |
Q577K |
probably benign |
Het |
Dlg1 |
T |
G |
16: 31,665,683 (GRCm39) |
L680R |
probably benign |
Het |
Fahd2a |
T |
C |
2: 127,278,304 (GRCm39) |
E301G |
probably benign |
Het |
Fn3k |
T |
A |
11: 121,341,191 (GRCm39) |
L282H |
probably damaging |
Het |
Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
Gkn1 |
A |
G |
6: 87,323,289 (GRCm39) |
S175P |
probably damaging |
Het |
Gm12695 |
A |
G |
4: 96,616,466 (GRCm39) |
S456P |
probably damaging |
Het |
Kcna5 |
T |
C |
6: 126,511,844 (GRCm39) |
T95A |
probably benign |
Het |
Kcnj13 |
G |
T |
1: 87,314,737 (GRCm39) |
T83K |
probably benign |
Het |
Kif19b |
G |
A |
5: 140,460,651 (GRCm39) |
R439H |
probably benign |
Het |
Klra10 |
C |
T |
6: 130,252,849 (GRCm39) |
G142R |
probably benign |
Het |
Krt14 |
T |
C |
11: 100,097,902 (GRCm39) |
N127S |
probably damaging |
Het |
Layn |
T |
C |
9: 50,968,775 (GRCm39) |
M323V |
probably benign |
Het |
Lrrd1 |
A |
G |
5: 3,901,147 (GRCm39) |
D484G |
probably benign |
Het |
Lrrtm2 |
A |
G |
18: 35,345,788 (GRCm39) |
C505R |
probably damaging |
Het |
Ms4a14 |
A |
T |
19: 11,280,729 (GRCm39) |
S610T |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,856,841 (GRCm39) |
N1282S |
probably benign |
Het |
Naip5 |
A |
T |
13: 100,358,784 (GRCm39) |
D817E |
possibly damaging |
Het |
Ndufs2 |
A |
G |
1: 171,074,629 (GRCm39) |
L10P |
possibly damaging |
Het |
Nxn |
T |
C |
11: 76,169,362 (GRCm39) |
D139G |
probably damaging |
Het |
Or3a1b |
A |
G |
11: 74,012,612 (GRCm39) |
T166A |
probably benign |
Het |
Or5b105 |
G |
A |
19: 13,080,272 (GRCm39) |
T132I |
possibly damaging |
Het |
Or6aa1 |
A |
C |
7: 86,043,973 (GRCm39) |
H244Q |
probably damaging |
Het |
Pcdhb22 |
G |
T |
18: 37,652,794 (GRCm39) |
V164F |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,084,992 (GRCm39) |
T417A |
probably damaging |
Het |
Prcp |
G |
T |
7: 92,567,035 (GRCm39) |
|
probably null |
Het |
Rasgrp2 |
A |
G |
19: 6,454,694 (GRCm39) |
Y178C |
probably damaging |
Het |
Rasgrp2 |
A |
G |
19: 6,463,907 (GRCm39) |
N535S |
probably benign |
Het |
Rgs20 |
G |
T |
1: 4,980,793 (GRCm39) |
Y208* |
probably null |
Het |
Slc39a10 |
A |
G |
1: 46,849,223 (GRCm39) |
C798R |
probably damaging |
Het |
Slco2b1 |
A |
G |
7: 99,335,265 (GRCm39) |
S172P |
probably benign |
Het |
Styk1 |
GTCTCTTCATGATT |
GT |
6: 131,278,610 (GRCm39) |
|
probably benign |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Tmc2 |
T |
A |
2: 130,089,881 (GRCm39) |
I622N |
probably damaging |
Het |
Trav16n |
A |
G |
14: 53,588,559 (GRCm39) |
S5G |
probably benign |
Het |
Tti1 |
C |
T |
2: 157,849,304 (GRCm39) |
R645H |
probably benign |
Het |
Ttll3 |
A |
G |
6: 113,386,114 (GRCm39) |
D649G |
probably damaging |
Het |
Vcam1 |
C |
T |
3: 115,922,287 (GRCm39) |
V79I |
possibly damaging |
Het |
Vmn1r211 |
T |
C |
13: 23,036,506 (GRCm39) |
I54V |
probably benign |
Het |
Vmn1r238 |
A |
G |
18: 3,122,577 (GRCm39) |
F279S |
probably benign |
Het |
Vps33a |
A |
T |
5: 123,669,135 (GRCm39) |
W589R |
possibly damaging |
Het |
Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
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 |
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 |
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'- TCTTGGCCAGCACTGTGAAC -3'
(R):5'- TCAACAATGGGGACTTTGAGGC -3'
Sequencing Primer
(F):5'- CTGTGAACAAGCAGGCTTTC -3'
(R):5'- AGGCCTATGCGTGAGTCTC -3'
|
Posted On |
2022-10-06 |