Incidental Mutation 'R0056:Camkk2'
ID 17108
Institutional Source Beutler Lab
Gene Symbol Camkk2
Ensembl Gene ENSMUSG00000029471
Gene Name calcium/calmodulin-dependent protein kinase kinase 2, beta
Synonyms 6330570N16Rik
MMRRC Submission 038350-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R0056 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 122869233-122917472 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 122880261 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C078
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Adam34l A T 8: 44,078,540 (GRCm39) C561* probably null Het
Ankfn1 A G 11: 89,282,502 (GRCm39) S1061P possibly damaging Het
Atp9b A G 18: 80,809,018 (GRCm39) S634P probably damaging Het
Bche A T 3: 73,608,654 (GRCm39) N257K possibly damaging Het
Bms1 A T 6: 118,382,190 (GRCm39) D449E probably benign Het
C630050I24Rik G T 8: 107,846,026 (GRCm39) V59F unknown Het
Ccdc121rt1 T C 1: 181,338,118 (GRCm39) Y278C probably damaging Het
Chd9 A G 8: 91,660,165 (GRCm39) H375R possibly damaging Het
Entpd7 T A 19: 43,713,733 (GRCm39) V364E probably benign Het
Epb41l3 A T 17: 69,560,392 (GRCm39) D313V probably damaging Het
Etv6 G T 6: 134,225,497 (GRCm39) E154* probably null Het
Fshr T G 17: 89,295,885 (GRCm39) H274P probably damaging Het
G3bp1 A G 11: 55,388,867 (GRCm39) N360D probably benign Het
Gdf11 C T 10: 128,722,294 (GRCm39) R187H probably benign Het
Gpihbp1 T A 15: 75,468,982 (GRCm39) I52N probably damaging Het
H1f8 G T 6: 115,923,934 (GRCm39) probably benign Het
Htt T C 5: 34,983,422 (GRCm39) probably benign Het
Iqcm A G 8: 76,480,014 (GRCm39) Q324R probably benign Het
Kcng3 A G 17: 83,895,185 (GRCm39) L427P probably damaging Het
Klk7 T C 7: 43,461,434 (GRCm39) L17P possibly damaging Het
Klrd1 G A 6: 129,570,738 (GRCm39) V50I probably benign Het
Lama5 A T 2: 179,828,899 (GRCm39) probably benign Het
Lamtor3 T A 3: 137,632,711 (GRCm39) probably benign Het
Lyplal1 G A 1: 185,820,763 (GRCm39) T228I probably benign Het
Mapk6 A G 9: 75,296,098 (GRCm39) Y467H possibly damaging Het
Marchf6 T C 15: 31,467,880 (GRCm39) T776A possibly damaging Het
Mogat1 T G 1: 78,500,407 (GRCm39) M157R probably damaging Het
Morc2b T A 17: 33,357,733 (GRCm39) Q13L possibly damaging Het
Myo1h C T 5: 114,468,273 (GRCm39) T356I probably damaging Het
Ncoa2 C A 1: 117,516,497 (GRCm38) probably null Het
Nobox A G 6: 43,281,853 (GRCm39) C407R probably benign Het
Nup58 A G 14: 60,476,924 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,329 (GRCm39) S187P probably benign Het
Otoa A G 7: 120,730,570 (GRCm39) Y590C probably benign Het
Pelp1 A T 11: 70,284,658 (GRCm39) V1070E unknown Het
Pglyrp3 G T 3: 91,933,111 (GRCm39) probably benign Het
Plpp2 A G 10: 79,363,063 (GRCm39) F189S probably damaging Het
Polr2b T C 5: 77,482,382 (GRCm39) I640T possibly damaging Het
Ryr2 T A 13: 11,683,924 (GRCm39) T3047S probably damaging Het
Snx25 A T 8: 46,491,550 (GRCm39) W847R probably damaging Het
Son T C 16: 91,475,043 (GRCm39) Y454H possibly damaging Het
Sos1 A T 17: 80,721,050 (GRCm39) N923K probably damaging Het
Tex15 A G 8: 34,072,055 (GRCm39) H2534R probably benign Het
Ticam2 G T 18: 46,693,401 (GRCm39) Q229K possibly damaging Het
Tnfaip3 A T 10: 18,881,041 (GRCm39) V342E probably damaging Het
Traf6 A G 2: 101,527,496 (GRCm39) I415M possibly damaging Het
Trpm1 A G 7: 63,893,334 (GRCm39) D1062G probably damaging Het
Wdr59 C T 8: 112,207,239 (GRCm39) probably benign Het
Other mutations in Camkk2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5401:Camkk2 UTSW 5 122,884,398 (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
Posted On 2013-01-20