Incidental Mutation 'IGL01866:Camkk2'
ID 178522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camkk2
Ensembl Gene ENSMUSG00000029471
Gene Name calcium/calmodulin-dependent protein kinase kinase 2, beta
Synonyms 6330570N16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # IGL01866
Quality Score
Status
Chromosome 5
Chromosomal Location 122869233-122917472 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122902013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 99 (S99P)
Ref Sequence ENSEMBL: ENSMUSP00000143732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111668] [ENSMUST00000196742] [ENSMUST00000198257] [ENSMUST00000199599] [ENSMUST00000200109]
AlphaFold Q8C078
Predicted Effect probably damaging
Transcript: ENSMUST00000111668
AA Change: S99P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471
AA Change: S99P

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 damaging
Transcript: ENSMUST00000196742
AA Change: S99P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142812
Gene: ENSMUSG00000029471
AA Change: S99P

DomainStartEndE-ValueType
low complexity region 124 144 N/A INTRINSIC
Pfam:Pkinase 165 206 1.7e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198177
Predicted Effect probably damaging
Transcript: ENSMUST00000198257
AA Change: S2P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143162
Gene: ENSMUSG00000029471
AA Change: S2P

DomainStartEndE-ValueType
low complexity region 27 47 N/A INTRINSIC
Pfam:Pkinase 68 109 3.9e-5 PFAM
low complexity region 111 117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199179
Predicted Effect probably benign
Transcript: ENSMUST00000199599
Predicted Effect probably damaging
Transcript: ENSMUST00000200109
AA Change: S99P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143732
Gene: ENSMUSG00000029471
AA Change: S99P

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 noncoding transcript
Transcript: ENSMUST00000199988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199830
Coding Region Coverage
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. 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T C 4: 144,255,119 (GRCm39) Y180H possibly damaging Het
Abi3bp A T 16: 56,492,336 (GRCm39) I1361L probably benign Het
Amph A T 13: 19,326,172 (GRCm39) D634V probably damaging Het
Ank1 G A 8: 23,583,871 (GRCm39) V317I possibly damaging Het
Ap4e1 G A 2: 126,888,830 (GRCm39) V460I possibly damaging Het
Arhgap19 A T 19: 41,775,016 (GRCm39) H198Q probably benign Het
Cacna1g C T 11: 94,347,937 (GRCm39) G717D probably damaging Het
Catsperb T A 12: 101,475,570 (GRCm39) Y371* probably null Het
Cbl A T 9: 44,065,122 (GRCm39) C735* probably null Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Col1a2 G T 6: 4,524,132 (GRCm39) D531Y probably damaging Het
Dscam T A 16: 96,486,550 (GRCm39) T1042S probably benign Het
Dtnb A G 12: 3,782,626 (GRCm39) Y363C probably benign Het
Ear10 A G 14: 44,160,785 (GRCm39) L14P probably damaging Het
Egf A G 3: 129,529,529 (GRCm39) S294P probably benign Het
Erbb3 T C 10: 128,405,237 (GRCm39) *1340W probably null Het
Fam217b A G 2: 178,062,224 (GRCm39) T63A probably benign Het
Fig4 G A 10: 41,108,160 (GRCm39) P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Hdac10 C A 15: 89,008,736 (GRCm39) G442W probably damaging Het
Mc2r C T 18: 68,540,494 (GRCm39) M266I possibly damaging Het
Mep1b A G 18: 21,228,050 (GRCm39) Q551R probably benign Het
Mtrf1 T A 14: 79,638,948 (GRCm39) C27S probably benign Het
Myo5c T A 9: 75,176,864 (GRCm39) M603K probably benign Het
Nuf2 A G 1: 169,326,407 (GRCm39) L448P possibly damaging Het
Or10a49 C T 7: 108,468,006 (GRCm39) M118I possibly damaging Het
Or1e30 A T 11: 73,678,654 (GRCm39) I297L probably benign Het
Or2b7 T C 13: 21,739,343 (GRCm39) N283S probably benign Het
Or8g33 A T 9: 39,338,025 (GRCm39) M114K probably damaging Het
Ppp2r5c T C 12: 110,534,261 (GRCm39) Y375H probably benign Het
Pstpip2 A G 18: 77,965,325 (GRCm39) I317M probably benign Het
Pxdn A G 12: 30,034,570 (GRCm39) T208A probably benign Het
Rab3gap1 C T 1: 127,818,817 (GRCm39) H116Y probably damaging Het
Rarb T A 14: 16,443,751 (GRCm38) D179V probably benign Het
Rasal1 G A 5: 120,813,488 (GRCm39) A621T probably damaging Het
Rnf6 G A 5: 146,147,717 (GRCm39) R434C probably damaging Het
Scn10a C A 9: 119,464,568 (GRCm39) E1011* probably null Het
Sec24d C T 3: 123,087,244 (GRCm39) Q137* probably null Het
Slc35g1 C A 19: 38,391,642 (GRCm39) A308E probably damaging Het
Smtnl1 C A 2: 84,649,089 (GRCm39) C55F possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stt3a A T 9: 36,645,662 (GRCm39) D676E probably benign Het
Sytl2 T C 7: 90,031,047 (GRCm39) probably benign Het
Trabd2b A G 4: 114,266,117 (GRCm39) T44A probably damaging Het
Trim12a T C 7: 103,953,360 (GRCm39) probably benign Het
Tti1 A T 2: 157,849,618 (GRCm39) D540E probably benign Het
Tubgcp6 A G 15: 88,987,691 (GRCm39) V1094A probably benign Het
Vmn1r34 A G 6: 66,614,373 (GRCm39) Y122H probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp579 T A 7: 4,997,257 (GRCm39) Q218L possibly damaging Het
Other mutations in Camkk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-05-07