Incidental Mutation 'R2291:Camk2a'
ID 244399
Institutional Source Beutler Lab
Gene Symbol Camk2a
Ensembl Gene ENSMUSG00000024617
Gene Name calcium/calmodulin-dependent protein kinase II alpha
Synonyms alpha-CaMKII
MMRRC Submission 040290-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R2291 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 61058704-61121224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61097031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 38 (V38E)
Ref Sequence ENSEMBL: ENSMUSP00000110950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025519] [ENSMUST00000039904] [ENSMUST00000102888] [ENSMUST00000115295]
AlphaFold P11798
Predicted Effect probably benign
Transcript: ENSMUST00000025519
AA Change: V327E

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617
AA Change: V327E

S_TKc 13 271 3.59e-107 SMART
low complexity region 314 344 N/A INTRINSIC
Pfam:CaMKII_AD 357 484 6.7e-68 PFAM
Pfam:DUF4440 361 475 2.6e-10 PFAM
Pfam:SnoaL_3 361 485 6e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000039904
AA Change: V38E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000048325
Gene: ENSMUSG00000024617
AA Change: V38E

signal peptide 1 27 N/A INTRINSIC
Pfam:CaMKII_AD 57 184 1.1e-67 PFAM
Pfam:DUF4440 61 175 1e-12 PFAM
Pfam:SnoaL_3 61 185 4.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102888
AA Change: V327E

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099952
Gene: ENSMUSG00000024617
AA Change: V327E

S_TKc 13 271 3.59e-107 SMART
low complexity region 314 324 N/A INTRINSIC
Pfam:CaMKII_AD 346 473 1.2e-66 PFAM
Pfam:DUF4440 350 464 4.5e-12 PFAM
Pfam:SnoaL_3 350 474 2.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115295
AA Change: V38E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110950
Gene: ENSMUSG00000024617
AA Change: V38E

signal peptide 1 27 N/A INTRINSIC
Pfam:CaMKII_AD 68 195 3.8e-67 PFAM
Pfam:DUF4440 72 186 1.7e-12 PFAM
Pfam:SnoaL_3 72 196 9.5e-13 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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 kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous targeted mutants display deficient long-term hippocampal potentiation (LTP) and specific impairment in spatial learning; heterozygotes show decreased fear response and increased defensive aggression, which is more pronounced in homozygotes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,207,450 (GRCm39) I247N probably damaging Het
Afdn A G 17: 14,109,153 (GRCm39) K1559E probably damaging Het
Ankhd1 C T 18: 36,777,386 (GRCm39) T1523I probably benign Het
Apc T A 18: 34,445,544 (GRCm39) N795K probably benign Het
Arhgap26 G T 18: 39,490,751 (GRCm39) probably benign Het
Atm C T 9: 53,402,209 (GRCm39) probably null Het
Atp1a4 T C 1: 172,072,473 (GRCm39) N394D probably damaging Het
Brinp3 T A 1: 146,776,812 (GRCm39) S420T possibly damaging Het
Cacna1d G T 14: 29,764,299 (GRCm39) R2078S probably damaging Het
Cacna1e T C 1: 154,279,429 (GRCm39) D1720G probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccr7 G A 11: 99,036,161 (GRCm39) R254C probably damaging Het
Celf5 C T 10: 81,302,881 (GRCm39) G267D probably damaging Het
Cfap65 G A 1: 74,965,634 (GRCm39) P459S probably damaging Het
Chd1l T C 3: 97,498,599 (GRCm39) K267E probably damaging Het
Chl1 T A 6: 103,692,354 (GRCm39) Y331N probably damaging Het
Cltc G A 11: 86,624,448 (GRCm39) T158I probably benign Het
Col16a1 T A 4: 129,960,833 (GRCm39) D430E unknown Het
Cspg4 T C 9: 56,800,027 (GRCm39) V1597A probably damaging Het
Cstf2t T A 19: 31,062,264 (GRCm39) L600H probably benign Het
Cyp27b1 T C 10: 126,884,163 (GRCm39) V5A possibly damaging Het
Depdc5 C A 5: 33,136,746 (GRCm39) Q1339K probably damaging Het
Diaph3 G T 14: 87,203,882 (GRCm39) P592Q probably damaging Het
Dync2i1 A T 12: 116,193,191 (GRCm39) probably null Het
Epha8 T C 4: 136,660,658 (GRCm39) M687V probably damaging Het
Fhod1 T A 8: 106,063,596 (GRCm39) probably benign Het
Gls2 C A 10: 128,043,479 (GRCm39) S73* probably null Het
Gm3604 T A 13: 62,519,657 (GRCm39) M33L probably damaging Het
Gpr39 A G 1: 125,605,278 (GRCm39) T69A probably benign Het
Hal T C 10: 93,339,398 (GRCm39) F496L probably damaging Het
Hipk1 T C 3: 103,668,926 (GRCm39) E490G probably damaging Het
Ints7 T G 1: 191,338,315 (GRCm39) probably null Het
Itpr3 A G 17: 27,332,553 (GRCm39) E1799G possibly damaging Het
Kif11 T A 19: 37,395,451 (GRCm39) M570K probably benign Het
Kif18b G T 11: 102,799,096 (GRCm39) Q702K probably damaging Het
Kif19a A G 11: 114,681,019 (GRCm39) T247A probably damaging Het
Lama3 A G 18: 12,658,136 (GRCm39) E360G probably damaging Het
Loxl3 G T 6: 83,014,469 (GRCm39) A126S probably benign Het
Mc5r C T 18: 68,472,435 (GRCm39) R265W probably damaging Het
Mpl A G 4: 118,306,197 (GRCm39) V340A probably benign Het
Mrpl13 G T 15: 55,411,615 (GRCm39) H56Q probably damaging Het
Msr1 T C 8: 40,077,263 (GRCm39) T116A probably benign Het
N4bp3 T C 11: 51,536,930 (GRCm39) K48E probably damaging Het
Naaladl1 A G 19: 6,156,225 (GRCm39) T104A probably benign Het
Neu1 C T 17: 35,151,742 (GRCm39) R179W probably damaging Het
Or10d5 T C 9: 39,861,630 (GRCm39) T146A probably benign Het
Or8k21 A T 2: 86,145,524 (GRCm39) Y35* probably null Het
Osbp G T 19: 11,951,198 (GRCm39) E248* probably null Het
Otx1 T A 11: 21,946,634 (GRCm39) probably benign Het
Parp4 A T 14: 56,851,274 (GRCm39) Q759L probably damaging Het
Pax6 A C 2: 105,516,228 (GRCm39) S169R probably benign Het
Pigg T G 5: 108,480,783 (GRCm39) I389M probably damaging Het
Pla2g4a C A 1: 149,776,940 (GRCm39) V59F probably damaging Het
Plcb4 A T 2: 135,781,903 (GRCm39) Q241H probably benign Het
Plpp6 A G 19: 28,941,720 (GRCm39) D107G probably damaging Het
Ppp6r2 T A 15: 89,159,690 (GRCm39) L459Q probably damaging Het
Prss55 A T 14: 64,313,171 (GRCm39) W238R probably damaging Het
Rgl1 C T 1: 152,412,032 (GRCm39) E446K probably damaging Het
Ric3 C T 7: 108,638,090 (GRCm39) G221D probably damaging Het
Rnf167 T C 11: 70,540,129 (GRCm39) F83S probably damaging Het
Ryr1 C T 7: 28,798,202 (GRCm39) V947M probably damaging Het
Scn1a A G 2: 66,119,312 (GRCm39) L1397P probably benign Het
Sh3bp1 T A 15: 78,802,519 (GRCm39) V251E possibly damaging Het
Slc25a10 A T 11: 120,387,900 (GRCm39) I198L probably benign Het
Smoc2 A T 17: 14,589,233 (GRCm39) N234I possibly damaging Het
Spdl1 T A 11: 34,710,136 (GRCm39) K382* probably null Het
Ssrp1 G A 2: 84,872,660 (GRCm39) probably null Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Triqk T A 4: 12,974,817 (GRCm39) probably null Het
Ttc19 T C 11: 62,174,519 (GRCm39) Y128H probably damaging Het
Vmn1r15 T C 6: 57,235,677 (GRCm39) S182P possibly damaging Het
Vmn1r226 A G 17: 20,908,475 (GRCm39) I236V probably damaging Het
Vmn2r120 A C 17: 57,816,479 (GRCm39) N625K probably damaging Het
Vmn2r78 T C 7: 86,569,362 (GRCm39) I85T probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt7a C T 6: 91,371,468 (GRCm39) V165I probably benign Het
Zbtb40 A T 4: 136,712,328 (GRCm39) Y1127N possibly damaging Het
Zfyve1 A T 12: 83,594,705 (GRCm39) H762Q probably damaging Het
Other mutations in Camk2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Camk2a APN 18 61,113,228 (GRCm39) critical splice donor site probably null
IGL01707:Camk2a APN 18 61,093,122 (GRCm39) splice site probably null
IGL02117:Camk2a APN 18 61,111,061 (GRCm39) missense probably damaging 0.99
frantic UTSW 18 61,097,000 (GRCm39) nonsense probably null
R0003:Camk2a UTSW 18 61,093,079 (GRCm39) missense probably damaging 0.99
R0373:Camk2a UTSW 18 61,091,310 (GRCm39) missense probably damaging 0.98
R0589:Camk2a UTSW 18 61,097,036 (GRCm39) critical splice donor site probably null
R1135:Camk2a UTSW 18 61,090,468 (GRCm39) critical splice donor site probably null
R1199:Camk2a UTSW 18 61,085,396 (GRCm39) nonsense probably null
R2159:Camk2a UTSW 18 61,090,257 (GRCm39) missense probably damaging 1.00
R4022:Camk2a UTSW 18 61,097,000 (GRCm39) nonsense probably null
R4662:Camk2a UTSW 18 61,074,411 (GRCm39) missense probably damaging 1.00
R4664:Camk2a UTSW 18 61,088,696 (GRCm39) missense possibly damaging 0.91
R4859:Camk2a UTSW 18 61,076,246 (GRCm39) intron probably benign
R5119:Camk2a UTSW 18 61,076,208 (GRCm39) intron probably benign
R5291:Camk2a UTSW 18 61,090,236 (GRCm39) missense probably damaging 1.00
R5503:Camk2a UTSW 18 61,111,072 (GRCm39) missense probably damaging 0.99
R5874:Camk2a UTSW 18 61,076,272 (GRCm39) intron probably benign
R5997:Camk2a UTSW 18 61,111,029 (GRCm39) missense probably damaging 1.00
R6109:Camk2a UTSW 18 61,076,306 (GRCm39) nonsense probably null
R6772:Camk2a UTSW 18 61,102,092 (GRCm39) missense probably benign 0.21
R6939:Camk2a UTSW 18 61,091,226 (GRCm39) missense probably damaging 1.00
R6977:Camk2a UTSW 18 61,093,076 (GRCm39) missense probably damaging 1.00
R6993:Camk2a UTSW 18 61,076,247 (GRCm39) intron probably benign
R7247:Camk2a UTSW 18 61,076,277 (GRCm39) missense unknown
R7625:Camk2a UTSW 18 61,085,412 (GRCm39) missense probably damaging 0.97
R7900:Camk2a UTSW 18 61,090,438 (GRCm39) missense probably damaging 1.00
R9131:Camk2a UTSW 18 61,076,327 (GRCm39) missense unknown
R9513:Camk2a UTSW 18 61,088,607 (GRCm39) critical splice acceptor site probably null
R9794:Camk2a UTSW 18 61,097,031 (GRCm39) missense probably benign
X0020:Camk2a UTSW 18 61,093,109 (GRCm39) missense possibly damaging 0.89
X0026:Camk2a UTSW 18 61,085,208 (GRCm39) missense possibly damaging 0.87
Z1088:Camk2a UTSW 18 61,076,222 (GRCm39) intron probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-30