Incidental Mutation 'R6109:Camk2a'
ID 484753
Institutional Source Beutler Lab
Gene Symbol Camk2a
Ensembl Gene ENSMUSG00000024617
Gene Name calcium/calmodulin-dependent protein kinase II alpha
Synonyms alpha-CaMKII
MMRRC Submission 044259-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R6109 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 61058704-61121224 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 61076306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 95 (K95*)
Ref Sequence ENSEMBL: ENSMUSP00000110952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025519] [ENSMUST00000102888] [ENSMUST00000115297]
AlphaFold P11798
Predicted Effect probably benign
Transcript: ENSMUST00000025519
SMART Domains Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617

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 benign
Transcript: ENSMUST00000102888
SMART Domains Protein: ENSMUSP00000099952
Gene: ENSMUSG00000024617

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: ENSMUST00000115297
AA Change: K95*
SMART Domains Protein: ENSMUSP00000110952
Gene: ENSMUSG00000024617
AA Change: K95*

DomainStartEndE-ValueType
PDB:3SOA|A 1 52 4e-28 PDB
SCOP:d1phk__ 9 49 3e-12 SMART
Blast:S_TKc 13 53 4e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134496
Predicted Effect probably benign
Transcript: ENSMUST00000137805
SMART Domains Protein: ENSMUSP00000123480
Gene: ENSMUSG00000024617

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 20 176 1.8e-22 PFAM
Pfam:Pkinase 21 176 3.7e-43 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (64/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,621,303 (GRCm39) Y950C probably benign Het
Acadm A G 3: 153,647,580 (GRCm39) C20R probably damaging Het
Agtpbp1 G T 13: 59,621,560 (GRCm39) T984K probably damaging Het
Agxt2 C T 15: 10,377,508 (GRCm39) T136I probably damaging Het
Ankrd36 C A 11: 5,578,941 (GRCm39) N68K probably damaging Het
Ap3b2 T A 7: 81,143,340 (GRCm39) D10V possibly damaging Het
Apcdd1 A T 18: 63,070,437 (GRCm39) I235F probably damaging Het
Arhgap32 T A 9: 32,171,407 (GRCm39) W1396R probably damaging Het
Ascc3 A G 10: 50,525,343 (GRCm39) T513A probably benign Het
Aym1 C T 5: 113,505,407 (GRCm39) L9F unknown Het
Btnl10 C A 11: 58,811,130 (GRCm39) S151Y probably damaging Het
Ccdc40 T C 11: 119,122,804 (GRCm39) V202A probably benign Het
Cd200r3 T A 16: 44,774,045 (GRCm39) D152E probably benign Het
Cd2bp2 C T 7: 126,793,987 (GRCm39) D101N probably damaging Het
Cdh20 G A 1: 104,921,739 (GRCm39) D679N probably damaging Het
Clpx C T 9: 65,207,234 (GRCm39) T44I probably benign Het
Cnnm4 T G 1: 36,537,560 (GRCm39) V541G probably damaging Het
Csmd1 T C 8: 16,249,874 (GRCm39) I1035V possibly damaging Het
Ctsw T C 19: 5,517,147 (GRCm39) S62G probably benign Het
Dlk2 T A 17: 46,612,623 (GRCm39) Y109N probably damaging Het
Ebf3 C T 7: 136,807,955 (GRCm39) V363M probably damaging Het
Farsb A G 1: 78,439,907 (GRCm39) probably null Het
Fastkd3 C T 13: 68,738,337 (GRCm39) Q32* probably null Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxl3 C A 5: 138,805,850 (GRCm39) Q6K probably damaging Het
Gk5 C A 9: 96,022,663 (GRCm39) F166L probably benign Het
Gm11271 G T 13: 21,565,309 (GRCm39) noncoding transcript Het
Gnat2 T A 3: 108,007,451 (GRCm39) Y290N probably damaging Het
H2-D1 A T 17: 35,482,913 (GRCm39) I148F probably damaging Het
Hdac2 A G 10: 36,862,385 (GRCm39) D83G probably null Het
Kdm5d T C Y: 921,501 (GRCm39) W500R probably damaging Het
Kel A T 6: 41,665,796 (GRCm39) F489I probably benign Het
Kmo C A 1: 175,465,474 (GRCm39) A76E possibly damaging Het
Krt32 T C 11: 99,978,791 (GRCm39) T88A probably benign Het
Lce3b A G 3: 92,840,994 (GRCm39) T30A unknown Het
Lcn11 A G 2: 25,669,308 (GRCm39) H155R possibly damaging Het
Lmln T A 16: 32,889,481 (GRCm39) I129N possibly damaging Het
Meiob A G 17: 25,031,993 (GRCm39) K3E probably benign Het
Mitf C T 6: 97,973,429 (GRCm39) T229M probably damaging Het
Ms4a20 T C 19: 11,079,276 (GRCm39) M131V possibly damaging Het
Muc16 T C 9: 18,566,655 (GRCm39) I1955V unknown Het
Naip1 A G 13: 100,563,690 (GRCm39) C492R probably damaging Het
Ncor2 C T 5: 125,132,910 (GRCm39) A26T probably damaging Het
Ngfr T G 11: 95,468,883 (GRCm39) D165A probably damaging Het
Nobox A T 6: 43,282,103 (GRCm39) S323R probably damaging Het
Or51ac3 T C 7: 103,214,346 (GRCm39) I47V probably benign Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Or8g23 A G 9: 38,971,492 (GRCm39) S157P probably benign Het
Pcdhb1 G T 18: 37,398,306 (GRCm39) V86F possibly damaging Het
Pdk1 A G 2: 71,713,850 (GRCm39) E165G probably benign Het
Peak1 C T 9: 56,166,567 (GRCm39) V454I probably benign Het
Rad9b C T 5: 122,482,360 (GRCm39) G125D probably damaging Het
S100a16 T C 3: 90,449,381 (GRCm39) F19L probably damaging Het
Serpine2 T C 1: 79,788,388 (GRCm39) K190E probably damaging Het
Slf1 A T 13: 77,274,799 (GRCm39) M12K probably damaging Het
Tex101 T C 7: 24,367,738 (GRCm39) T205A possibly damaging Het
Tssk5 T C 15: 76,257,916 (GRCm39) E147G probably damaging Het
Ubr4 A G 4: 139,144,675 (GRCm39) T1495A probably damaging Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Wdr70 A T 15: 8,108,638 (GRCm39) probably null Het
Zfp811 T A 17: 33,016,348 (GRCm39) probably null Het
Zscan10 T A 17: 23,826,103 (GRCm39) F88L 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
R2291:Camk2a UTSW 18 61,097,031 (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
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'- ACAGAGATTCCTTGAGCAGTC -3'
(R):5'- GGTGGAGCTCAGAAGGTTAC -3'

Sequencing Primer
(F):5'- GAGATTCCTTGAGCAGTCTTCTCATG -3'
(R):5'- CATTTTAAGACTGGAAGTGGGGCC -3'
Posted On 2017-08-16