Incidental Mutation 'R1591:Camkk2'
ID 175480
Institutional Source Beutler Lab
Gene Symbol Camkk2
Ensembl Gene ENSMUSG00000029471
Gene Name calcium/calmodulin-dependent protein kinase kinase 2, beta
Synonyms 6330570N16Rik
MMRRC Submission 039628-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R1591 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 122869233-122917472 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 122895621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111668] [ENSMUST00000196742] [ENSMUST00000196742] [ENSMUST00000198029] [ENSMUST00000198257] [ENSMUST00000198257] [ENSMUST00000200109]
AlphaFold Q8C078
Predicted Effect probably null
Transcript: ENSMUST00000111668
SMART Domains Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471

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 null
Transcript: ENSMUST00000196742
SMART Domains Protein: ENSMUSP00000142812
Gene: ENSMUSG00000029471

DomainStartEndE-ValueType
low complexity region 124 144 N/A INTRINSIC
Pfam:Pkinase 165 206 1.7e-5 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000196742
SMART Domains Protein: ENSMUSP00000142812
Gene: ENSMUSG00000029471

DomainStartEndE-ValueType
low complexity region 124 144 N/A INTRINSIC
Pfam:Pkinase 165 206 1.7e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198029
SMART Domains Protein: ENSMUSP00000142896
Gene: ENSMUSG00000029471

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 noncoding transcript
Transcript: ENSMUST00000198177
Predicted Effect probably null
Transcript: ENSMUST00000198257
SMART Domains Protein: ENSMUSP00000143162
Gene: ENSMUSG00000029471

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 null
Transcript: ENSMUST00000198257
SMART Domains Protein: ENSMUSP00000143162
Gene: ENSMUSG00000029471

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 noncoding transcript
Transcript: ENSMUST00000199988
Predicted Effect probably null
Transcript: ENSMUST00000200109
SMART Domains Protein: ENSMUSP00000143732
Gene: ENSMUSG00000029471

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: ENSMUST00000199830
Meta Mutation Damage Score 0.9587 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 100% (80/80)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 G T 5: 100,957,505 (GRCm39) Q201K probably benign Het
Acacb A T 5: 114,341,484 (GRCm39) I829F possibly damaging Het
Acvr1b G T 15: 101,091,905 (GRCm39) V62L probably benign Het
Adam6b A T 12: 113,453,452 (GRCm39) I90F probably benign Het
Adgrf1 T C 17: 43,621,872 (GRCm39) L703P probably damaging Het
Arf3 T C 15: 98,640,669 (GRCm39) probably benign Het
Asns T C 6: 7,678,007 (GRCm39) D357G probably damaging Het
Atr T C 9: 95,827,438 (GRCm39) M2461T probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Bod1l T C 5: 41,976,563 (GRCm39) I1584V probably benign Het
Bub3 T C 7: 131,163,337 (GRCm39) probably null Het
Cand1 G T 10: 119,047,774 (GRCm39) T572K possibly damaging Het
Caprin2 A T 6: 148,774,606 (GRCm39) S235R possibly damaging Het
Cdh24 T C 14: 54,873,799 (GRCm39) T452A probably benign Het
Cdh4 T C 2: 179,528,657 (GRCm39) probably null Het
Cfap61 A G 2: 145,987,378 (GRCm39) R1060G probably benign Het
Chd9 A G 8: 91,710,166 (GRCm39) D314G probably damaging Het
Cplx3 C T 9: 57,523,085 (GRCm39) V125I probably benign Het
Csmd1 T A 8: 15,950,710 (GRCm39) I3500F probably damaging Het
Dnah1 G T 14: 30,994,289 (GRCm39) Q2858K probably benign Het
Dnah6 C T 6: 73,053,583 (GRCm39) E2884K probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Exosc10 T A 4: 148,652,840 (GRCm39) I485N probably benign Het
Fap T C 2: 62,384,201 (GRCm39) K2E probably damaging Het
Fgfr1 G A 8: 26,062,736 (GRCm39) G671D probably damaging Het
Fzr1 C T 10: 81,206,201 (GRCm39) R162Q possibly damaging Het
Grap2 A T 15: 80,532,649 (GRCm39) Y272F probably damaging Het
Il11ra1 T A 4: 41,766,200 (GRCm39) W246R probably damaging Het
Kcna3 A T 3: 106,944,345 (GRCm39) I203F probably damaging Het
Kcng1 T C 2: 168,110,630 (GRCm39) E178G possibly damaging Het
Kif19a A C 11: 114,680,057 (GRCm39) H798P probably benign Het
Kif21b T C 1: 136,077,055 (GRCm39) L359P probably damaging Het
Krt6a A T 15: 101,600,792 (GRCm39) probably null Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrp3 A G 7: 34,901,790 (GRCm39) V676A probably benign Het
Lrrc63 T A 14: 75,363,332 (GRCm39) K266N possibly damaging Het
Mccc1 C T 3: 36,044,006 (GRCm39) V246M probably damaging Het
Mdn1 T C 4: 32,700,092 (GRCm39) V1395A possibly damaging Het
Mmrn1 A T 6: 60,921,755 (GRCm39) R71* probably null Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Ogdh T C 11: 6,299,384 (GRCm39) F750S probably damaging Het
Or1ak2 C A 2: 36,827,990 (GRCm39) N286K probably damaging Het
Or51aa2 T G 7: 103,188,274 (GRCm39) T56P probably benign Het
Or5p60 T A 7: 107,723,571 (GRCm39) I300F possibly damaging Het
Or8b3 A G 9: 38,314,232 (GRCm39) T18A probably damaging Het
Or8b42 A T 9: 38,341,707 (GRCm39) N43I probably damaging Het
Osbpl11 A C 16: 33,030,353 (GRCm39) I194L probably benign Het
Pacsin2 T C 15: 83,269,252 (GRCm39) E14G probably damaging Het
Pate7 T C 9: 35,687,952 (GRCm39) D96G probably damaging Het
Pcdh7 A G 5: 57,877,764 (GRCm39) T440A probably damaging Het
Pcdhb17 T C 18: 37,618,878 (GRCm39) S223P probably damaging Het
Pik3c2g G A 6: 139,693,904 (GRCm39) R109K probably benign Het
Ppp2ca T C 11: 51,989,916 (GRCm39) I14T possibly damaging Het
Rdh12 A T 12: 79,258,278 (GRCm39) T102S probably damaging Het
Rsf1 T A 7: 97,288,520 (GRCm39) C132* probably null Het
Rufy1 G A 11: 50,285,755 (GRCm39) L621F probably damaging Het
Ruvbl2 C T 7: 45,074,135 (GRCm39) R253H possibly damaging Het
Sdf2 A G 11: 78,145,819 (GRCm39) E172G probably damaging Het
Skint5 C T 4: 113,856,651 (GRCm39) probably null Het
Slc25a27 A G 17: 43,964,315 (GRCm39) I185T probably benign Het
Slc41a3 A C 6: 90,610,677 (GRCm39) K180Q probably benign Het
Slc7a14 A C 3: 31,291,598 (GRCm39) F227V probably damaging Het
Smg1 T C 7: 117,756,142 (GRCm39) probably benign Het
St6galnac1 A T 11: 116,656,689 (GRCm39) D483E probably damaging Het
Tes A G 6: 17,097,441 (GRCm39) K183R probably damaging Het
Tgfbr1 G T 4: 47,403,471 (GRCm39) D290Y probably damaging Het
Tifab T A 13: 56,324,164 (GRCm39) Y93F probably benign Het
Tmem131l A G 3: 83,848,196 (GRCm39) probably null Het
Tnfrsf21 T A 17: 43,396,265 (GRCm39) S516R probably benign Het
Ttn T C 2: 76,606,389 (GRCm39) Y18140C probably damaging Het
Unc13b T A 4: 43,244,747 (GRCm39) S3692T probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfp113 T C 5: 138,149,459 (GRCm39) probably benign Het
Zfp26 T C 9: 20,348,921 (GRCm39) T548A probably benign Het
Zfp870 C T 17: 33,102,990 (GRCm39) G114D 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
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
Predicted Primers PCR Primer
(F):5'- CCCAAACCTTGATTGGAGCTGAGTG -3'
(R):5'- TGGCGTGAGATCCCATGAGTGATG -3'

Sequencing Primer
(F):5'- tggagctgagtgctggg -3'
(R):5'- gcagacggaggcagtgg -3'
Posted On 2014-04-24