Incidental Mutation 'R5919:Camk2b'
| ID |
462577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk2b
|
| Ensembl Gene |
ENSMUSG00000057897 |
| Gene Name |
calcium/calmodulin-dependent protein kinase II, beta |
| Synonyms |
CaMK II |
| MMRRC Submission |
044116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R5919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
5919644-6016362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5929718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 331
(S331P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065101
(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
AA Change: S355P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000002817
Gene: ENSMUSG00000057897
AA Change: S355P
| 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: S394P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: S394P
| 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: S331P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065101
Gene: ENSMUSG00000057897
AA Change: S331P
| 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 |
possibly damaging
Transcript: ENSMUST00000090443
AA Change: S354P
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087925
Gene: ENSMUSG00000057897
AA Change: S354P
| 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 |
possibly damaging
Transcript: ENSMUST00000093355
AA Change: S355P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091046
Gene: ENSMUSG00000057897
AA Change: S355P
| 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 damaging
Transcript: ENSMUST00000101585
AA Change: S370P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897
AA Change: S370P
| 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: S370P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099120
Gene: ENSMUSG00000057897
AA Change: S370P
| 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 |
possibly damaging
Transcript: ENSMUST00000109812
AA Change: S381P
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105437
Gene: ENSMUSG00000057897
AA Change: S381P
| 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: ENSMUST00000109813
AA Change: S394P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897
AA Change: S394P
| 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: ENSMUST00000109815
AA Change: S394P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897
AA Change: S394P
| 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
|
| Meta Mutation Damage Score |
0.1493 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (68/68) |
| 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 |
|---|
| 1700025G04Rik |
T |
C |
1: 151,791,249 (GRCm39) |
D104G |
probably damaging |
Het |
| 6030458C11Rik |
A |
T |
15: 12,823,754 (GRCm39) |
H40Q |
probably damaging |
Het |
| Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Adgrl1 |
G |
T |
8: 84,659,239 (GRCm39) |
D648Y |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,417 (GRCm39) |
D547E |
probably benign |
Het |
| Aebp1 |
A |
T |
11: 5,821,421 (GRCm39) |
M607L |
probably benign |
Het |
| Angptl1 |
T |
C |
1: 156,686,116 (GRCm39) |
Y401H |
probably damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,962 (GRCm39) |
T163A |
probably benign |
Het |
| Bltp2 |
A |
T |
11: 78,180,176 (GRCm39) |
N2152I |
probably damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,231,692 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
T |
C |
1: 44,096,146 (GRCm39) |
N1651D |
probably benign |
Het |
| Ccdc38 |
A |
T |
10: 93,414,700 (GRCm39) |
I370F |
possibly damaging |
Het |
| Clstn1 |
A |
T |
4: 149,719,703 (GRCm39) |
H416L |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,509,580 (GRCm39) |
R3030H |
probably damaging |
Het |
| Cop1 |
T |
A |
1: 159,147,294 (GRCm39) |
V540E |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,925,991 (GRCm39) |
R710H |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,983 (GRCm39) |
I851V |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,344,146 (GRCm39) |
V642A |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,094,486 (GRCm39) |
L1139P |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,479,910 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,822,953 (GRCm39) |
N6229D |
possibly damaging |
Het |
| Garin5b |
T |
C |
7: 4,773,385 (GRCm39) |
E144G |
possibly damaging |
Het |
| Gas2l3 |
G |
A |
10: 89,252,917 (GRCm39) |
R243W |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,815,855 (GRCm39) |
R1406W |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,976,249 (GRCm39) |
H180R |
probably damaging |
Het |
| Ift172 |
T |
A |
5: 31,418,006 (GRCm39) |
Q1261L |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,818,001 (GRCm39) |
V230A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,997,202 (GRCm39) |
I42F |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,477 (GRCm39) |
K799E |
possibly damaging |
Het |
| Lrp4 |
A |
T |
2: 91,303,552 (GRCm39) |
I84F |
probably damaging |
Het |
| Mplkipl1 |
T |
C |
19: 61,163,907 (GRCm39) |
Y176C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,551,509 (GRCm39) |
|
probably null |
Het |
| Ms4a14 |
C |
A |
19: 11,291,661 (GRCm39) |
V13F |
possibly damaging |
Het |
| Muc2 |
T |
A |
7: 141,281,171 (GRCm39) |
V445D |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,227,837 (GRCm39) |
M1317K |
possibly damaging |
Het |
| Myof |
T |
A |
19: 38,012,818 (GRCm39) |
D39V |
possibly damaging |
Het |
| Ndufaf1 |
A |
C |
2: 119,490,709 (GRCm39) |
V117G |
possibly damaging |
Het |
| Ndufs1 |
C |
G |
1: 63,182,991 (GRCm39) |
*728S |
probably null |
Het |
| Nup188 |
A |
T |
2: 30,229,906 (GRCm39) |
N1375Y |
probably damaging |
Het |
| Oasl1 |
T |
A |
5: 115,066,329 (GRCm39) |
I149N |
probably damaging |
Het |
| Or9i16 |
A |
G |
19: 13,865,209 (GRCm39) |
Y122H |
probably damaging |
Het |
| Pelo |
C |
A |
13: 115,225,845 (GRCm39) |
C204F |
possibly damaging |
Het |
| Phf11d |
A |
C |
14: 59,593,712 (GRCm39) |
|
probably benign |
Het |
| Rars2 |
T |
C |
4: 34,657,232 (GRCm39) |
L526P |
probably damaging |
Het |
| Rrp1 |
A |
G |
10: 78,241,422 (GRCm39) |
L177P |
probably damaging |
Het |
| S100a9 |
A |
G |
3: 90,602,495 (GRCm39) |
L33P |
probably damaging |
Het |
| Slc4a7 |
A |
G |
14: 14,791,092 (GRCm38) |
D1045G |
probably benign |
Het |
| Slc9a3 |
C |
T |
13: 74,306,859 (GRCm39) |
T328I |
probably damaging |
Het |
| Spata6 |
A |
G |
4: 111,636,405 (GRCm39) |
D232G |
probably damaging |
Het |
| Taar6 |
A |
T |
10: 23,861,168 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmeff2 |
C |
A |
1: 51,171,311 (GRCm39) |
C182* |
probably null |
Het |
| Tmem178 |
T |
A |
17: 81,297,187 (GRCm39) |
C190S |
probably damaging |
Het |
| Trerf1 |
T |
G |
17: 47,634,208 (GRCm39) |
|
noncoding transcript |
Het |
| Trgv6 |
A |
G |
13: 19,374,782 (GRCm39) |
Y16C |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,468,423 (GRCm39) |
I1046V |
possibly damaging |
Het |
| Vmn1r221 |
A |
T |
13: 23,401,466 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,723 (GRCm39) |
N141S |
probably benign |
Het |
| Zfp64 |
T |
A |
2: 168,768,419 (GRCm39) |
N398Y |
probably benign |
Het |
| Zfp787 |
T |
G |
7: 6,135,834 (GRCm39) |
Q139P |
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 |
|
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 |
|
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'- TGATGGCCTGAACACTCTTTG -3'
(R):5'- CTGAGGACATATGCGGCTAG -3'
Sequencing Primer
(F):5'- ATGGCCTGAACACTCTTTGACTCAG -3'
(R):5'- GACATATGCGGCTAGAATGTTCTCC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation