Incidental Mutation 'R6556:Camkk1'
ID 522187
Institutional Source Beutler Lab
Gene Symbol Camkk1
Ensembl Gene ENSMUSG00000020785
Gene Name calcium/calmodulin-dependent protein kinase kinase 1, alpha
Synonyms CaMKKalpha
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6556 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 72909834-72932899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72924696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 303 (N303I)
Ref Sequence ENSEMBL: ENSMUSP00000090613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092937] [ENSMUST00000145834]
AlphaFold Q8VBY2
Predicted Effect probably benign
Transcript: ENSMUST00000092937
AA Change: N303I

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090613
Gene: ENSMUSG00000020785
AA Change: N303I

DomainStartEndE-ValueType
S_TKc 128 409 7.77e-94 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145834
AA Change: N183I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123441
Gene: ENSMUSG00000020785
AA Change: N183I

DomainStartEndE-ValueType
S_TKc 8 291 2.15e-87 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155720
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency
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. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal but exhibit context fear deficits during both conditioning and long-term follow-up testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atosb C T 4: 43,033,896 (GRCm39) R460H probably damaging Het
Atp2a1 G T 7: 126,049,434 (GRCm39) P536Q probably benign Het
Bnip5 T A 17: 29,123,585 (GRCm39) D114V probably damaging Het
Cabyr T A 18: 12,884,073 (GRCm39) S187T probably benign Het
Cdh13 C T 8: 119,694,926 (GRCm39) P259S probably damaging Het
Csnk1g3 A G 18: 54,063,354 (GRCm39) D255G possibly damaging Het
Dennd5b A C 6: 148,915,749 (GRCm39) probably null Het
Dnajc14 A G 10: 128,650,500 (GRCm39) D528G probably benign Het
Edem1 T C 6: 108,831,318 (GRCm39) F593S probably benign Het
Efcab3 A G 11: 104,899,077 (GRCm39) N4343S probably null Het
Erbb2 G A 11: 98,326,908 (GRCm39) D1106N possibly damaging Het
Ermp1 T C 19: 29,590,321 (GRCm39) M794V possibly damaging Het
Fip1l1 T A 5: 74,707,838 (GRCm39) probably null Het
Gm20730 C T 6: 43,058,476 (GRCm39) C112Y probably damaging Het
Gtf2h1 T A 7: 46,458,089 (GRCm39) C245S probably damaging Het
Hdhd5 T C 6: 120,500,515 (GRCm39) H61R probably benign Het
Ighv1-71 A T 12: 115,706,092 (GRCm39) V31E probably damaging Het
Igsf9b T C 9: 27,240,851 (GRCm39) F688S probably damaging Het
Iqcd T C 5: 120,740,443 (GRCm39) V258A probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Lpo G T 11: 87,708,589 (GRCm39) Y136* probably null Het
Med30 A G 15: 52,593,779 (GRCm39) probably benign Het
Mertk T A 2: 128,618,341 (GRCm39) V524D probably benign Het
Ndufb11b A G 15: 81,864,939 (GRCm39) D60G probably damaging Het
Or4c126 T A 2: 89,824,517 (GRCm39) F260Y probably benign Het
Or4c52 T C 2: 89,845,438 (GRCm39) Y55H probably damaging Het
Or5l13 T C 2: 87,780,320 (GRCm39) I86V probably benign Het
Pde6b T A 5: 108,569,367 (GRCm39) M358K possibly damaging Het
Prep GA G 10: 45,034,410 (GRCm39) probably null Het
Prpf4b G A 13: 35,080,015 (GRCm39) R793Q probably damaging Het
Rela T A 19: 5,697,366 (GRCm39) N524K probably damaging Het
Relch T A 1: 105,654,165 (GRCm39) F845I probably damaging Het
Rnaset2a T C 17: 8,360,480 (GRCm39) D74G probably damaging Het
Semp2l2a G A 8: 13,887,690 (GRCm39) Q134* probably null Het
Serinc2 T A 4: 130,152,064 (GRCm39) I267F probably damaging Het
Sesn3 T C 9: 14,232,549 (GRCm39) F274S possibly damaging Het
Spag1 T C 15: 36,195,553 (GRCm39) Y249H probably damaging Het
Sstr1 A T 12: 58,260,478 (GRCm39) D367V possibly damaging Het
Tasor T G 14: 27,151,215 (GRCm39) Y64D probably benign Het
Tnnt1 T C 7: 4,512,576 (GRCm39) E110G probably damaging Het
Tpm1 T A 9: 66,935,451 (GRCm39) probably null Het
Unc93b1 T C 19: 3,994,105 (GRCm39) V412A probably benign Het
Uox G C 3: 146,330,403 (GRCm39) probably null Het
Usp44 T C 10: 93,681,870 (GRCm39) Y107H probably benign Het
Other mutations in Camkk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Camkk1 APN 11 72,921,627 (GRCm39) critical splice acceptor site probably null
IGL02019:Camkk1 APN 11 72,928,027 (GRCm39) missense probably damaging 0.99
IGL02054:Camkk1 APN 11 72,916,708 (GRCm39) missense probably damaging 1.00
IGL02547:Camkk1 APN 11 72,929,259 (GRCm39) missense probably benign 0.22
IGL02628:Camkk1 APN 11 72,919,995 (GRCm39) splice site probably benign
PIT4651001:Camkk1 UTSW 11 72,916,647 (GRCm39) missense probably benign
R1449:Camkk1 UTSW 11 72,924,710 (GRCm39) missense probably damaging 0.96
R1573:Camkk1 UTSW 11 72,918,307 (GRCm39) missense probably damaging 0.99
R3912:Camkk1 UTSW 11 72,924,642 (GRCm39) missense probably benign 0.16
R4084:Camkk1 UTSW 11 72,928,691 (GRCm39) missense probably damaging 1.00
R5284:Camkk1 UTSW 11 72,928,381 (GRCm39) missense probably benign 0.00
R7329:Camkk1 UTSW 11 72,917,873 (GRCm39) missense probably damaging 0.99
R7330:Camkk1 UTSW 11 72,917,873 (GRCm39) missense probably damaging 0.99
R7723:Camkk1 UTSW 11 72,928,058 (GRCm39) missense probably benign 0.01
R7787:Camkk1 UTSW 11 72,917,412 (GRCm39) missense probably benign 0.14
R8300:Camkk1 UTSW 11 72,918,266 (GRCm39) missense probably benign 0.34
R8932:Camkk1 UTSW 11 72,924,734 (GRCm39) missense probably damaging 1.00
R9432:Camkk1 UTSW 11 72,928,757 (GRCm39) missense probably damaging 1.00
X0066:Camkk1 UTSW 11 72,928,030 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTGTGAAGGCAGGAGATCG -3'
(R):5'- TTAGATGCAAGAAGCCTGGAGC -3'

Sequencing Primer
(F):5'- AAGGCAGGAGATCGCCCTG -3'
(R):5'- GCAAGCACTCCGTCTCC -3'
Posted On 2018-06-06