Incidental Mutation 'R4022:Camk2a'
ID 313325
Institutional Source Beutler Lab
Gene Symbol Camk2a
Ensembl Gene ENSMUSG00000024617
Gene Name calcium/calmodulin-dependent protein kinase II alpha
Synonyms alpha-CaMKII
MMRRC Submission 040956-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R4022 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 61058704-61121224 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 61097000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 28 (K28*)
Ref Sequence ENSEMBL: ENSMUSP00000110950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025519] [ENSMUST00000039904] [ENSMUST00000102888] [ENSMUST00000115295]
AlphaFold P11798
Predicted Effect probably null
Transcript: ENSMUST00000025519
AA Change: K317*
SMART Domains Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617
AA Change: K317*

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000039904
AA Change: K28*
SMART Domains Protein: ENSMUSP00000048325
Gene: ENSMUSG00000024617
AA Change: K28*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000102888
AA Change: K317*
SMART Domains Protein: ENSMUSP00000099952
Gene: ENSMUSG00000024617
AA Change: K317*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000115295
AA Change: K28*
SMART Domains Protein: ENSMUSP00000110950
Gene: ENSMUSG00000024617
AA Change: K28*

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T A 2: 26,733,812 (GRCm39) Y131F probably damaging Het
Adcy4 C T 14: 56,012,635 (GRCm39) probably null Het
Ago3 T A 4: 126,262,386 (GRCm39) N388I probably benign Het
Arfgef2 G T 2: 166,715,865 (GRCm39) V1385L probably benign Het
Ccdc180 T A 4: 45,904,560 (GRCm39) Y385* probably null Het
Cd209g A T 8: 4,185,955 (GRCm39) Q46L possibly damaging Het
Cdh22 T C 2: 164,999,173 (GRCm39) T220A probably benign Het
Cltc A T 11: 86,611,174 (GRCm39) C562S probably damaging Het
Cyp2c55 T A 19: 39,023,878 (GRCm39) probably null Het
Cyp2d34 A G 15: 82,502,809 (GRCm39) V139A probably benign Het
Ddias G T 7: 92,510,686 (GRCm39) D105E possibly damaging Het
Dhx30 T C 9: 109,913,465 (GRCm39) D1223G possibly damaging Het
Dnajb11 A G 16: 22,688,196 (GRCm39) D238G probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Erbb2 T G 11: 98,326,123 (GRCm39) C966W probably benign Het
Exoc1 C T 5: 76,697,417 (GRCm39) T405I possibly damaging Het
Fbxo28 T C 1: 182,157,475 (GRCm39) N108S possibly damaging Het
Fhdc1 T C 3: 84,352,409 (GRCm39) E157G probably benign Het
Gstcd C T 3: 132,787,829 (GRCm39) V290M probably damaging Het
Hps3 A G 3: 20,089,425 (GRCm39) V2A possibly damaging Het
Ilrun T C 17: 28,005,236 (GRCm39) E107G probably damaging Het
Itsn2 G A 12: 4,674,927 (GRCm39) R23H probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lax1 C T 1: 133,610,774 (GRCm39) G105S probably benign Het
Lin7c G T 2: 109,726,790 (GRCm39) probably null Het
Lrrn2 T C 1: 132,866,852 (GRCm39) V639A probably benign Het
Luzp1 T C 4: 136,269,504 (GRCm39) S576P probably benign Het
Mast4 G T 13: 102,990,377 (GRCm39) A48E probably damaging Het
Mast4 G A 13: 102,875,829 (GRCm39) R1112* probably null Het
Mat2a G A 6: 72,413,227 (GRCm39) R168C probably damaging Het
Megf8 T C 7: 25,037,200 (GRCm39) V700A probably damaging Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Myh2 G T 11: 67,070,230 (GRCm39) E421* probably null Het
Or12d2 T A 17: 37,625,165 (GRCm39) I37L probably benign Het
Or5k17 T C 16: 58,746,483 (GRCm39) I150M possibly damaging Het
Pecam1 T C 11: 106,545,986 (GRCm39) N693D probably benign Het
Ppip5k1 C T 2: 121,168,108 (GRCm39) R715H probably damaging Het
Prune2 A G 19: 16,977,384 (GRCm39) T40A probably damaging Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Reln T C 5: 22,432,628 (GRCm39) Q124R probably benign Het
Rnf17 C T 14: 56,697,458 (GRCm39) H451Y probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Sall3 T A 18: 81,013,055 (GRCm39) E1127V probably benign Het
Sertad3 A G 7: 27,176,120 (GRCm39) N185D probably damaging Het
Sox1 A G 8: 12,446,719 (GRCm39) Y120C probably damaging Het
Spag17 A T 3: 99,956,546 (GRCm39) I881F probably benign Het
Spart G T 3: 55,025,157 (GRCm39) V251L probably damaging Het
Stard9 A G 2: 120,534,636 (GRCm39) E3631G probably benign Het
Syde2 A G 3: 145,721,480 (GRCm39) T848A probably benign Het
Tmem11 T C 11: 60,756,154 (GRCm39) D12G possibly damaging Het
Trim28 T C 7: 12,762,485 (GRCm39) probably benign Het
Tsen2 T A 6: 115,524,948 (GRCm39) V49E probably damaging Het
Tspan1 C T 4: 116,024,232 (GRCm39) M10I probably benign Het
Uncx A T 5: 139,532,444 (GRCm39) T170S probably damaging Het
Usp24 T C 4: 106,236,421 (GRCm39) probably benign Het
Vmn1r84 T C 7: 12,095,857 (GRCm39) I267V probably benign Het
Zfp488 T A 14: 33,693,110 (GRCm39) M18L probably benign 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
R2291:Camk2a UTSW 18 61,097,031 (GRCm39) missense probably damaging 1.00
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
(F):5'- TGCTGAGAAGTGGGGAATCC -3'
(R):5'- GATCTGCCCTCCTCAAGATCTG -3'

Sequencing Primer
(F):5'- GTTGTTGACGAGGGAGTAGAC -3'
(R):5'- ACTTGGTGAGAGGTGGGCAC -3'
Posted On 2015-04-30