Incidental Mutation 'R8850:Camk2b'
| ID |
674956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk2b
|
| Ensembl Gene |
ENSMUSG00000057897 |
| Gene Name |
calcium/calmodulin-dependent protein kinase II, beta |
| Synonyms |
CaMK II |
| MMRRC Submission |
068673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R8850 (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 A
at 5922838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 426
(N426Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002817]
[ENSMUST00000019133]
[ENSMUST00000066431]
[ENSMUST00000090443]
[ENSMUST00000093355]
[ENSMUST00000101585]
[ENSMUST00000101586]
[ENSMUST00000109813]
[ENSMUST00000109812]
[ENSMUST00000109815]
|
| AlphaFold |
P28652 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002817
AA Change: N387Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002817
Gene: ENSMUSG00000057897
AA Change: N387Y
| 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: N550Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: N550Y
| 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: N363Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065101
Gene: ENSMUSG00000057897
AA Change: N363Y
| 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: N429Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087925
Gene: ENSMUSG00000057897
AA Change: N429Y
| 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: N473Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091046
Gene: ENSMUSG00000057897
AA Change: N473Y
| 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: N402Y
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897
AA Change: N402Y
| 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: ENSMUST00000101586
AA Change: N402Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099120
Gene: ENSMUSG00000057897
AA Change: N402Y
| 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: ENSMUST00000109813
AA Change: N426Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897
AA Change: N426Y
| 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: ENSMUST00000109812
AA Change: N413Y
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105437
Gene: ENSMUSG00000057897
AA Change: N413Y
| 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: N426Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897
AA Change: N426Y
| 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 |
|
| Meta Mutation Damage Score |
0.7101 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
G |
A |
12: 70,989,032 (GRCm39) |
|
probably null |
Het |
| Adgrd1 |
A |
G |
5: 129,219,574 (GRCm39) |
K465E |
probably benign |
Het |
| Aktip |
A |
T |
8: 91,853,402 (GRCm39) |
V105E |
probably benign |
Het |
| Ankrd7 |
A |
G |
6: 18,870,006 (GRCm39) |
Y253C |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,361,041 (GRCm39) |
M440T |
unknown |
Het |
| Ccdc82 |
T |
A |
9: 13,289,706 (GRCm39) |
Y500* |
probably null |
Het |
| Cenpe |
T |
A |
3: 134,930,777 (GRCm39) |
D341E |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,428 (GRCm39) |
M227K |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,692,134 (GRCm39) |
V967I |
unknown |
Het |
| Dnmt3b |
A |
T |
2: 153,515,933 (GRCm39) |
N447Y |
probably benign |
Het |
| Dtl |
A |
T |
1: 191,285,175 (GRCm39) |
Y320* |
probably null |
Het |
| Dtymk |
A |
C |
1: 93,729,543 (GRCm39) |
S3A |
probably benign |
Het |
| Eefsec |
G |
A |
6: 88,423,253 (GRCm39) |
T70M |
possibly damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,221,344 (GRCm39) |
T270M |
probably damaging |
Het |
| Gm17728 |
T |
C |
17: 9,641,159 (GRCm39) |
S90P |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,359,053 (GRCm39) |
L213P |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,109,188 (GRCm39) |
I1024V |
probably benign |
Het |
| Hr |
C |
T |
14: 70,799,305 (GRCm39) |
R597* |
probably null |
Het |
| Ifit3 |
T |
C |
19: 34,564,988 (GRCm39) |
I178T |
probably damaging |
Het |
| Ifna6 |
A |
G |
4: 88,746,222 (GRCm39) |
*190W |
probably null |
Het |
| Igkv4-55 |
A |
T |
6: 69,584,315 (GRCm39) |
M99K |
probably benign |
Het |
| Klk1 |
T |
A |
7: 43,877,056 (GRCm39) |
I53N |
probably damaging |
Het |
| Lpcat2b |
A |
G |
5: 107,580,692 (GRCm39) |
H7R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,393,481 (GRCm39) |
P648L |
|
Het |
| Mast4 |
G |
T |
13: 102,895,174 (GRCm39) |
P975H |
probably damaging |
Het |
| Mfrp |
C |
T |
9: 44,013,807 (GRCm39) |
L106F |
probably benign |
Het |
| Mllt10 |
T |
A |
2: 18,201,469 (GRCm39) |
S652T |
probably benign |
Het |
| Mroh8 |
C |
A |
2: 157,083,673 (GRCm39) |
G400W |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,788 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
A |
C |
5: 34,817,352 (GRCm39) |
V13G |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,217,576 (GRCm39) |
L837Q |
probably damaging |
Het |
| Or2a54 |
T |
A |
6: 43,092,905 (GRCm39) |
N76K |
possibly damaging |
Het |
| Or2ak5 |
T |
A |
11: 58,611,572 (GRCm39) |
T101S |
probably benign |
Het |
| Or7g30 |
T |
C |
9: 19,352,817 (GRCm39) |
S203P |
probably damaging |
Het |
| Or8k39 |
T |
C |
2: 86,563,302 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pate10 |
A |
G |
9: 35,652,391 (GRCm39) |
Y16C |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,226,793 (GRCm39) |
V185E |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,047,333 (GRCm39) |
A247D |
probably damaging |
Het |
| Pla2g10 |
A |
T |
16: 13,545,914 (GRCm39) |
V40D |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,512,811 (GRCm39) |
G37R |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,166,439 (GRCm39) |
E826G |
possibly damaging |
Het |
| Poc5 |
G |
T |
13: 96,535,228 (GRCm39) |
K164N |
possibly damaging |
Het |
| Polr2b |
A |
T |
5: 77,463,761 (GRCm39) |
M53L |
probably benign |
Het |
| Ppp1r10 |
C |
T |
17: 36,239,690 (GRCm39) |
P470S |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,645,840 (GRCm39) |
S510P |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,722,658 (GRCm39) |
L1073Q |
probably damaging |
Het |
| Rpl13a-ps1 |
C |
T |
19: 50,018,739 (GRCm39) |
G146R |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,518,730 (GRCm39) |
D368G |
probably damaging |
Het |
| Shc3 |
T |
A |
13: 51,634,248 (GRCm39) |
S86C |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,741,405 (GRCm39) |
H460R |
probably damaging |
Het |
| Steap1 |
T |
A |
5: 5,790,838 (GRCm39) |
M37L |
probably benign |
Het |
| Themis |
G |
T |
10: 28,673,492 (GRCm39) |
C593F |
possibly damaging |
Het |
| Tnn |
A |
G |
1: 159,937,814 (GRCm39) |
|
probably null |
Het |
| Trabd |
G |
T |
15: 88,969,667 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,248,047 (GRCm39) |
K216N |
probably damaging |
Het |
| Trmt44 |
G |
A |
5: 35,721,673 (GRCm39) |
P497S |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,256,475 (GRCm39) |
Y15C |
probably damaging |
Het |
| Trpm7 |
T |
A |
2: 126,652,100 (GRCm39) |
I1458L |
probably benign |
Het |
| Ttc17 |
G |
T |
2: 94,237,003 (GRCm39) |
A3E |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,704,208 (GRCm39) |
V9274L |
unknown |
Het |
| Tut7 |
T |
A |
13: 59,937,011 (GRCm39) |
Q1212L |
possibly damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,428,872 (GRCm39) |
I735F |
probably damaging |
Het |
| Vmn2r22 |
A |
G |
6: 123,614,454 (GRCm39) |
C379R |
probably damaging |
Het |
| Vmn2r97 |
G |
A |
17: 19,149,607 (GRCm39) |
E332K |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,920,732 (GRCm39) |
T1331A |
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 |
|
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'- GAAATCCATCCCTTCGACCAGG -3'
(R):5'- CTTTGTGGAGAGGACAGACC -3'
Sequencing Primer
(F):5'- AGGTTGCCCAGAGCTTCAG -3'
(R):5'- GAGCAGCTAGGTGGACAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation