Incidental Mutation 'R5401:Camkk2'
| ID |
429983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camkk2
|
| Ensembl Gene |
ENSMUSG00000029471 |
| Gene Name |
calcium/calmodulin-dependent protein kinase kinase 2, beta |
| Synonyms |
6330570N16Rik |
| MMRRC Submission |
042972-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R5401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122869233-122917472 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122884398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 341
(D341V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111668]
[ENSMUST00000197373]
[ENSMUST00000198029]
[ENSMUST00000200109]
|
| AlphaFold |
Q8C078 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111668
AA Change: D341V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471
AA Change: D341V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
124 |
144 |
N/A |
INTRINSIC |
|
S_TKc
|
165 |
446 |
1.53e-92 |
SMART |
|
low complexity region
|
464 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197373
|
| SMART Domains |
Protein: ENSMUSP00000142717
Gene: ENSMUSG00000029471
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1phk__
|
1 |
41 |
3e-8 |
SMART |
|
PDB:2ZV2|A
|
1 |
42 |
8e-20 |
PDB |
|
Blast:S_TKc
|
1 |
48 |
4e-23 |
BLAST |
|
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198029
AA Change: D136V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142896
Gene: ENSMUSG00000029471
AA Change: D136V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
S_TKc
|
18 |
235 |
8.2e-12 |
SMART |
|
low complexity region
|
259 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
350 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199988
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200109
AA Change: D341V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143732
Gene: ENSMUSG00000029471
AA Change: D341V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
124 |
144 |
N/A |
INTRINSIC |
|
S_TKc
|
165 |
446 |
1.53e-92 |
SMART |
|
low complexity region
|
464 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
539 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8851 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (66/68) |
| 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. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]
PHENOTYPE: Inactivation of this locus results in impaird long term potentiation and defects in some types of long term memory. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
A |
G |
9: 39,962,338 (GRCm39) |
|
noncoding transcript |
Het |
| 1700025H01Rik |
G |
T |
16: 30,018,801 (GRCm39) |
|
noncoding transcript |
Het |
| 9330159F19Rik |
T |
C |
10: 29,101,136 (GRCm39) |
V503A |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,347,914 (GRCm39) |
N995S |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,020,991 (GRCm39) |
K630R |
probably benign |
Het |
| Ankrd13a |
A |
C |
5: 114,930,234 (GRCm39) |
Q206H |
probably damaging |
Het |
| Ano10 |
A |
T |
9: 122,090,356 (GRCm39) |
L319Q |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,413,279 (GRCm39) |
I606V |
probably benign |
Het |
| Cdv3 |
G |
T |
9: 103,242,316 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
A |
G |
16: 55,745,315 (GRCm39) |
V155A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,228,476 (GRCm39) |
E2204G |
probably damaging |
Het |
| Cracr2b |
A |
G |
7: 141,046,136 (GRCm39) |
*395W |
probably null |
Het |
| Defa27 |
A |
G |
8: 21,805,710 (GRCm39) |
E50G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,670,812 (GRCm39) |
I480T |
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,831,037 (GRCm39) |
D2210Y |
unknown |
Het |
| Fam170a |
T |
A |
18: 50,413,618 (GRCm39) |
S28T |
probably benign |
Het |
| Fancc |
C |
A |
13: 63,550,767 (GRCm39) |
K18N |
probably damaging |
Het |
| Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
| Fndc8 |
T |
G |
11: 82,788,676 (GRCm39) |
S169A |
possibly damaging |
Het |
| Get3 |
A |
T |
8: 85,745,173 (GRCm39) |
I298N |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,409,338 (GRCm39) |
Y4688H |
probably damaging |
Het |
| Ighv11-2 |
A |
T |
12: 114,011,959 (GRCm39) |
D85E |
possibly damaging |
Het |
| Kat14 |
T |
C |
2: 144,231,180 (GRCm39) |
F196L |
possibly damaging |
Het |
| Kctd19 |
C |
T |
8: 106,109,617 (GRCm39) |
V942I |
probably benign |
Het |
| Llgl1 |
A |
G |
11: 60,597,297 (GRCm39) |
S249G |
probably benign |
Het |
| Map1a |
T |
C |
2: 121,130,153 (GRCm39) |
V323A |
probably damaging |
Het |
| Or4m1 |
C |
A |
14: 50,557,566 (GRCm39) |
C242F |
probably damaging |
Het |
| Phf21a |
C |
A |
2: 92,182,097 (GRCm39) |
T342K |
possibly damaging |
Het |
| Piezo2 |
T |
A |
18: 63,217,811 (GRCm39) |
D1122V |
possibly damaging |
Het |
| Pklr |
A |
G |
3: 89,049,173 (GRCm39) |
Y173C |
probably damaging |
Het |
| Plcz1 |
G |
T |
6: 139,938,778 (GRCm39) |
|
probably null |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Prom1 |
A |
T |
5: 44,158,147 (GRCm39) |
Y845N |
probably damaging |
Het |
| Qng1 |
C |
A |
13: 58,530,405 (GRCm39) |
A202S |
probably benign |
Het |
| Ret |
A |
T |
6: 118,158,936 (GRCm39) |
S159T |
probably benign |
Het |
| Rfx1 |
C |
A |
8: 84,793,005 (GRCm39) |
|
probably null |
Het |
| Scp2 |
A |
T |
4: 108,001,976 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Smad5 |
T |
C |
13: 56,875,282 (GRCm39) |
F157L |
probably benign |
Het |
| Smarcc2 |
C |
A |
10: 128,301,373 (GRCm39) |
D210E |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,478,643 (GRCm39) |
L534P |
possibly damaging |
Het |
| Srrm1 |
A |
G |
4: 135,051,380 (GRCm39) |
|
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Sugct |
T |
A |
13: 17,032,455 (GRCm39) |
Q432H |
probably damaging |
Het |
| Tex9 |
A |
T |
9: 72,394,060 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
C |
A |
2: 28,576,920 (GRCm39) |
S1073* |
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,403,843 (GRCm39) |
S202G |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,385,871 (GRCm39) |
V703A |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,785,765 (GRCm39) |
Y747N |
probably damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,964,419 (GRCm39) |
I292V |
probably benign |
Het |
| Zfp998 |
T |
C |
13: 66,579,722 (GRCm39) |
R254G |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,755,589 (GRCm39) |
G104E |
possibly damaging |
Het |
|
| Other mutations in Camkk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01866:Camkk2
|
APN |
5 |
122,902,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02321:Camkk2
|
APN |
5 |
122,902,190 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02619:Camkk2
|
APN |
5 |
122,902,298 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03356:Camkk2
|
APN |
5 |
122,881,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0056:Camkk2
|
UTSW |
5 |
122,880,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Camkk2
|
UTSW |
5 |
122,895,622 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0344:Camkk2
|
UTSW |
5 |
122,901,940 (GRCm39) |
missense |
probably benign |
|
|
R1480:Camkk2
|
UTSW |
5 |
122,872,341 (GRCm39) |
splice site |
probably null |
|
|
R1591:Camkk2
|
UTSW |
5 |
122,895,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1816:Camkk2
|
UTSW |
5 |
122,872,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Camkk2
|
UTSW |
5 |
122,875,575 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Camkk2
|
UTSW |
5 |
122,902,190 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2256:Camkk2
|
UTSW |
5 |
122,884,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4297:Camkk2
|
UTSW |
5 |
122,883,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4687:Camkk2
|
UTSW |
5 |
122,891,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:Camkk2
|
UTSW |
5 |
122,872,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6167:Camkk2
|
UTSW |
5 |
122,902,187 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6508:Camkk2
|
UTSW |
5 |
122,884,382 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7313:Camkk2
|
UTSW |
5 |
122,875,574 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7504:Camkk2
|
UTSW |
5 |
122,884,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Camkk2
|
UTSW |
5 |
122,902,363 (GRCm39) |
splice site |
probably benign |
|
|
R7664:Camkk2
|
UTSW |
5 |
122,894,645 (GRCm39) |
missense |
unknown |
|
|
R7698:Camkk2
|
UTSW |
5 |
122,884,482 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7805:Camkk2
|
UTSW |
5 |
122,880,275 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7937:Camkk2
|
UTSW |
5 |
122,902,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8289:Camkk2
|
UTSW |
5 |
122,894,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Camkk2
|
UTSW |
5 |
122,882,002 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8852:Camkk2
|
UTSW |
5 |
122,891,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Camkk2
|
UTSW |
5 |
122,872,182 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCCGATCCTTGTGTGAG -3'
(R):5'- GGAGATTTTCACGGGGTCTC -3'
Sequencing Primer
(F):5'- AGTTCACGGGCGACATGAC -3'
(R):5'- GGTCTCCCTGCCCCGTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation