Incidental Mutation 'R6772:Camk2a'
ID 532223
Institutional Source Beutler Lab
Gene Symbol Camk2a
Ensembl Gene ENSMUSG00000024617
Gene Name calcium/calmodulin-dependent protein kinase II alpha
Synonyms alpha-CaMKII
MMRRC Submission 044888-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R6772 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 61058704-61121224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61102092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 332 (S332P)
Ref Sequence ENSEMBL: ENSMUSP00000025519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025519] [ENSMUST00000039904] [ENSMUST00000102888] [ENSMUST00000115295]
AlphaFold P11798
Predicted Effect probably benign
Transcript: ENSMUST00000025519
AA Change: S332P

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617
AA Change: S332P

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: ENSMUST00000039904
SMART Domains Protein: ENSMUSP00000048325
Gene: ENSMUSG00000024617

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 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 benign
Transcript: ENSMUST00000115295
AA Change: S43P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000110950
Gene: ENSMUSG00000024617
AA Change: S43P

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 97% (36/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,126,276 (GRCm39) D1144V probably damaging Het
Ankrd13a A G 5: 114,939,804 (GRCm39) H477R probably benign Het
Anxa3 A T 5: 96,958,972 (GRCm39) I27F probably damaging Het
Aplf T C 6: 87,640,781 (GRCm39) E76G possibly damaging Het
Bbs1 A G 19: 4,956,618 (GRCm39) probably benign Het
Casz1 T A 4: 149,027,663 (GRCm39) F1013L probably damaging Het
Cd109 A T 9: 78,588,092 (GRCm39) I707F possibly damaging Het
Cd4 G A 6: 124,849,421 (GRCm39) T202I probably benign Het
Celsr1 A G 15: 85,914,983 (GRCm39) S997P probably benign Het
Cfap77 T C 2: 28,944,951 (GRCm39) T24A probably damaging Het
Dscaml1 G A 9: 45,621,609 (GRCm39) R1019H probably damaging Het
Epb41l4b C A 4: 57,063,140 (GRCm39) V517F probably benign Het
Exosc10 G A 4: 148,665,591 (GRCm39) D818N probably damaging Het
Furin C T 7: 80,043,240 (GRCm39) G324S probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifi206 T C 1: 173,308,773 (GRCm39) M408V unknown Het
Kdm4a T C 4: 117,999,752 (GRCm39) probably null Het
Neo1 T A 9: 58,810,259 (GRCm39) Q1064L probably damaging Het
Nphp4 G A 4: 152,628,863 (GRCm39) V750I probably benign Het
Pcdhac1 T C 18: 37,223,289 (GRCm39) V34A probably benign Het
Pdk4 T C 6: 5,487,141 (GRCm39) I302V probably benign Het
Prl6a1 A G 13: 27,503,031 (GRCm39) D209G probably damaging Het
Pspn T C 17: 57,306,515 (GRCm39) Q138R probably benign Het
Ptgs2 A G 1: 149,977,829 (GRCm39) Y134C probably damaging Het
Rlbp1 G A 7: 79,033,798 (GRCm39) probably benign Het
Rpia T C 6: 70,762,532 (GRCm39) I108V probably benign Het
Tcaf1 A T 6: 42,652,210 (GRCm39) H757Q probably damaging Het
Ttc8 A C 12: 98,909,848 (GRCm39) S143R probably damaging Het
Uba6 A G 5: 86,294,932 (GRCm39) probably benign Het
Ubr4 A T 4: 139,194,541 (GRCm39) K4280* probably null Het
Vmn2r15 C A 5: 109,434,238 (GRCm39) S822I probably damaging Het
Vps53 A T 11: 76,070,324 (GRCm39) M1K probably null Het
Zfp362 A G 4: 128,684,053 (GRCm39) M18T possibly damaging Het
Zfp429 A G 13: 67,538,317 (GRCm39) C376R probably damaging Het
Zfyve9 T C 4: 108,496,466 (GRCm39) N1395S probably damaging Het
Zmynd8 T A 2: 165,649,521 (GRCm39) Q857H 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
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
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'- TTAGATCGGTAGAGCCAGGTACAG -3'
(R):5'- CACCTTTGGACTGGAGGAAG -3'

Sequencing Primer
(F):5'- TACAGGCTTGAGGACCCAG -3'
(R):5'- CCATGGAGTTGGAGGTGTCAAC -3'
Posted On 2018-08-29