Incidental Mutation 'R7805:Camkk2'
ID 600722
Institutional Source Beutler Lab
Gene Symbol Camkk2
Ensembl Gene ENSMUSG00000029471
Gene Name calcium/calmodulin-dependent protein kinase kinase 2, beta
Synonyms 6330570N16Rik
MMRRC Submission 045860-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R7805 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 122869233-122917472 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 122880275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 447 (T447K)
Ref Sequence ENSEMBL: ENSMUSP00000107297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111668] [ENSMUST00000197373] [ENSMUST00000198029] [ENSMUST00000200109]
AlphaFold Q8C078
Predicted Effect possibly damaging
Transcript: ENSMUST00000111668
AA Change: T447K

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471
AA Change: T447K

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 probably damaging
Transcript: ENSMUST00000198029
AA Change: T242K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142896
Gene: ENSMUSG00000029471
AA Change: T242K

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 possibly damaging
Transcript: ENSMUST00000200109
AA Change: T447K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143732
Gene: ENSMUSG00000029471
AA Change: T447K

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 0.2834 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (43/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,624,128 (GRCm39) probably null Het
Aida A G 1: 183,085,633 (GRCm39) K44R probably damaging Het
Ano5 G A 7: 51,187,548 (GRCm39) V79M probably damaging Het
Armc9 G A 1: 86,124,041 (GRCm39) G405D probably damaging Het
Baat T A 4: 49,490,327 (GRCm39) R252S probably benign Het
C9orf72 G T 4: 35,194,170 (GRCm39) H372Q Het
Car2 A G 3: 14,965,130 (GRCm39) I255V probably benign Het
Cdhr1 A T 14: 36,803,502 (GRCm39) S525T probably benign Het
Col24a1 T C 3: 145,019,901 (GRCm39) Y91H probably benign Het
Cryba1 C A 11: 77,613,434 (GRCm39) probably null Het
Csmd2 G A 4: 128,313,366 (GRCm39) E1348K Het
Dcst1 A G 3: 89,260,068 (GRCm39) L592P probably damaging Het
Ddx17 A G 15: 79,421,723 (GRCm39) I334T probably damaging Het
Dspp A T 5: 104,323,259 (GRCm39) N134I probably damaging Het
Eif4g3 T C 4: 137,873,665 (GRCm39) V535A probably benign Het
Erc1 T C 6: 119,690,732 (GRCm39) E847G possibly damaging Het
Fancc A G 13: 63,508,056 (GRCm39) S160P possibly damaging Het
Fndc9 C T 11: 46,129,138 (GRCm39) A219V probably damaging Het
Ifitm1 G A 7: 140,548,282 (GRCm39) W38* probably null Het
Iqch A G 9: 63,329,002 (GRCm39) probably null Het
Krt9 T C 11: 100,083,522 (GRCm39) R170G possibly damaging Het
Lama4 T C 10: 38,902,747 (GRCm39) probably null Het
Lrrc18 A G 14: 32,730,973 (GRCm39) K171E probably damaging Het
Magi1 A G 6: 93,659,927 (GRCm39) S1007P probably benign Het
Muc16 T A 9: 18,549,789 (GRCm39) L5501F possibly damaging Het
Nrxn2 A G 19: 6,581,736 (GRCm39) N1557S probably benign Het
Or5g25 A T 2: 85,477,794 (GRCm39) Y290* probably null Het
Ovgp1 A G 3: 105,894,110 (GRCm39) T628A unknown Het
Pld5 A T 1: 175,872,480 (GRCm39) L219Q probably damaging Het
Rabggta G A 14: 55,956,969 (GRCm39) T273I probably benign Het
Rnf208 A G 2: 25,133,912 (GRCm39) D202G probably damaging Het
Sacs A G 14: 61,441,040 (GRCm39) N1029D not run Het
Sema6b T A 17: 56,438,555 (GRCm39) I114F probably damaging Het
Sgpp1 A G 12: 75,769,451 (GRCm39) I239T probably damaging Het
Slc12a3 A G 8: 95,071,515 (GRCm39) N638S probably damaging Het
Slc39a11 T C 11: 113,482,781 (GRCm39) probably null Het
Smc3 T C 19: 53,629,390 (GRCm39) S948P probably benign Het
Snx24 T A 18: 53,522,623 (GRCm39) H159Q probably benign Het
Sycp2 G T 2: 178,022,651 (GRCm39) N493K probably damaging Het
Tiam2 A G 17: 3,559,685 (GRCm39) D1242G probably damaging Het
Triobp G T 15: 78,858,204 (GRCm39) R1268S probably benign Het
Wdr12 T C 1: 60,136,753 (GRCm39) probably benign Het
Xirp2 T A 2: 67,340,325 (GRCm39) S855R probably benign Het
Zscan20 T A 4: 128,479,599 (GRCm39) H964L probably damaging 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
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
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
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

Sequencing Primer
Posted On 2019-11-26