Incidental Mutation 'R0056:Camkk2'
Institutional Source Beutler Lab
Gene Symbol Camkk2
Ensembl Gene ENSMUSG00000029471
Gene Namecalcium/calmodulin-dependent protein kinase kinase 2, beta
MMRRC Submission 038350-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.176) question?
Stock #R0056 (G1)
Quality Score
Status Validated
Chromosomal Location122731170-122779409 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 122742198 bp
Amino Acid Change Glutamic Acid to Lysine at position 452 (E452K)
Ref Sequence ENSEMBL: ENSMUSP00000143732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111668] [ENSMUST00000197373] [ENSMUST00000198029] [ENSMUST00000200109]
Predicted Effect probably damaging
Transcript: ENSMUST00000111668
AA Change: E452K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471
AA Change: E452K

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

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 possibly damaging
Transcript: ENSMUST00000198029
AA Change: E247K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142896
Gene: ENSMUSG00000029471
AA Change: E247K

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 probably damaging
Transcript: ENSMUST00000200109
AA Change: E452K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143732
Gene: ENSMUSG00000029471
AA Change: E452K

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 0.2563 question?
Coding Region Coverage
  • 1x: 89.2%
  • 3x: 86.3%
  • 10x: 78.7%
  • 20x: 65.9%
Validation Efficiency 89% (66/74)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 A G 11: 89,391,676 S1061P possibly damaging Het
Atp9b A G 18: 80,765,803 S634P probably damaging Het
Bche A T 3: 73,701,321 N257K possibly damaging Het
Bms1 A T 6: 118,405,229 D449E probably benign Het
C630050I24Rik G T 8: 107,119,394 V59F unknown Het
Ccdc121 T C 1: 181,510,553 Y278C probably damaging Het
Chd9 A G 8: 90,933,537 H375R possibly damaging Het
Entpd7 T A 19: 43,725,294 V364E probably benign Het
Epb41l3 A T 17: 69,253,397 D313V probably damaging Het
Etv6 G T 6: 134,248,534 E154* probably null Het
Fshr T G 17: 88,988,457 H274P probably damaging Het
G3bp1 A G 11: 55,498,041 N360D probably benign Het
Gdf11 C T 10: 128,886,425 R187H probably benign Het
Gm5346 A T 8: 43,625,503 C561* probably null Het
Gpihbp1 T A 15: 75,597,133 I52N probably damaging Het
H1foo G T 6: 115,946,973 probably benign Het
Htt T C 5: 34,826,078 probably benign Het
Iqcm A G 8: 75,753,386 Q324R probably benign Het
Kcng3 A G 17: 83,587,756 L427P probably damaging Het
Klk7 T C 7: 43,812,010 L17P possibly damaging Het
Klrd1 G A 6: 129,593,775 V50I probably benign Het
Lama5 A T 2: 180,187,106 probably benign Het
Lamtor3 T A 3: 137,926,950 probably benign Het
Lyplal1 G A 1: 186,088,566 T228I probably benign Het
Mapk6 A G 9: 75,388,816 Y467H possibly damaging Het
March6 T C 15: 31,467,734 T776A possibly damaging Het
Mogat1 T G 1: 78,523,770 M157R probably damaging Het
Morc2b T A 17: 33,138,759 Q13L possibly damaging Het
Myo1h C T 5: 114,330,212 T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 probably null Het
Nobox A G 6: 43,304,919 C407R probably benign Het
Nupl1 A G 14: 60,239,475 probably null Het
Olfr684 A G 7: 105,157,122 S187P probably benign Het
Otoa A G 7: 121,131,347 Y590C probably benign Het
Pelp1 A T 11: 70,393,832 V1070E unknown Het
Pglyrp3 G T 3: 92,025,804 probably benign Het
Plpp2 A G 10: 79,527,229 F189S probably damaging Het
Polr2b T C 5: 77,334,535 I640T possibly damaging Het
Ryr2 T A 13: 11,669,038 T3047S probably damaging Het
Snx25 A T 8: 46,038,513 W847R probably damaging Het
Son T C 16: 91,678,155 Y454H possibly damaging Het
Sos1 A T 17: 80,413,621 N923K probably damaging Het
Tex15 A G 8: 33,582,027 H2534R probably benign Het
Ticam2 G T 18: 46,560,334 Q229K possibly damaging Het
Tnfaip3 A T 10: 19,005,293 V342E probably damaging Het
Traf6 A G 2: 101,697,151 I415M possibly damaging Het
Trpm1 A G 7: 64,243,586 D1062G probably damaging Het
Wdr59 C T 8: 111,480,607 probably benign Het
Other mutations in Camkk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01866:Camkk2 APN 5 122763950 missense probably damaging 1.00
IGL02321:Camkk2 APN 5 122764127 missense probably damaging 0.96
IGL02619:Camkk2 APN 5 122764235 missense probably damaging 0.98
IGL03356:Camkk2 APN 5 122743874 missense probably damaging 1.00
R0078:Camkk2 UTSW 5 122757559 critical splice donor site probably null
R0344:Camkk2 UTSW 5 122763877 missense probably benign
R1480:Camkk2 UTSW 5 122734278 intron probably null
R1591:Camkk2 UTSW 5 122757558 critical splice donor site probably null
R1816:Camkk2 UTSW 5 122734180 missense probably damaging 1.00
R1960:Camkk2 UTSW 5 122737512 nonsense probably null
R1985:Camkk2 UTSW 5 122764127 missense possibly damaging 0.81
R2256:Camkk2 UTSW 5 122746335 missense probably damaging 1.00
R4297:Camkk2 UTSW 5 122745706 critical splice donor site probably null
R4687:Camkk2 UTSW 5 122753724 missense probably damaging 1.00
R5401:Camkk2 UTSW 5 122746335 missense probably damaging 1.00
R5802:Camkk2 UTSW 5 122734244 missense probably damaging 0.99
R6167:Camkk2 UTSW 5 122764124 missense probably damaging 0.96
R6508:Camkk2 UTSW 5 122746319 missense probably damaging 0.96
R7313:Camkk2 UTSW 5 122737511 missense possibly damaging 0.55
R7504:Camkk2 UTSW 5 122746308 missense probably damaging 1.00
R7626:Camkk2 UTSW 5 122764300 splice site probably benign
R7664:Camkk2 UTSW 5 122756582 missense unknown
R7698:Camkk2 UTSW 5 122746419 missense probably damaging 0.96
R7805:Camkk2 UTSW 5 122742212 missense possibly damaging 0.92
Posted On2013-01-20