Incidental Mutation 'IGL01707:Camk2a'
ID104656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camk2a
Ensembl Gene ENSMUSG00000024617
Gene Namecalcium/calmodulin-dependent protein kinase II alpha
Synonymsalpha-CaMKII
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.207) question?
Stock #IGL01707
Quality Score
Status
Chromosome18
Chromosomal Location60925618-60988152 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to A at 60960050 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025519] [ENSMUST00000039904] [ENSMUST00000102888] [ENSMUST00000115295]
PDB Structure
CRYSTAL STRUCTURE OF CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE [X-RAY DIFFRACTION]
Predicted Effect probably null
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: 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 null
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
SMART Domains Protein: ENSMUSP00000110950
Gene: ENSMUSG00000024617

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
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184354
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C A 19: 57,039,447 R404L probably damaging Het
Acot6 C A 12: 84,100,989 S6R probably benign Het
Adamtsl4 T A 3: 95,683,991 Q222L probably benign Het
Adgre5 T A 8: 83,724,347 T725S probably damaging Het
Agbl3 A T 6: 34,839,454 K766N possibly damaging Het
Ankrd12 A G 17: 65,984,278 S1387P probably damaging Het
Cd209d T C 8: 3,878,296 I30V probably benign Het
Ces1d A T 8: 93,189,550 S150T possibly damaging Het
Cox4i2 T C 2: 152,757,036 Y38H probably damaging Het
Csmd2 T C 4: 128,383,005 Y867H possibly damaging Het
Dbh G A 2: 27,165,544 C10Y probably benign Het
Dnajc13 A G 9: 104,228,979 V332A probably damaging Het
Gnb3 G T 6: 124,839,689 A11E possibly damaging Het
Herc2 A G 7: 56,165,187 R2725G probably damaging Het
Kdm4c C T 4: 74,336,927 L573F probably damaging Het
Kmt2c T A 5: 25,300,098 Q3404L probably damaging Het
Mmp9 A G 2: 164,949,989 H231R probably benign Het
Nphp3 A T 9: 104,018,158 D371V possibly damaging Het
Nphp4 A G 4: 152,538,983 I705V probably benign Het
Nutm2 A T 13: 50,469,717 N150I probably damaging Het
Olfr576 T C 7: 102,965,919 I273T probably damaging Het
Olfr611 A T 7: 103,517,934 I150N probably damaging Het
Phb2 A G 6: 124,714,035 Q52R probably benign Het
Plekhh1 T A 12: 79,078,964 V1258E probably benign Het
Pou2f1 A T 1: 165,915,116 N69K probably damaging Het
Rapsn T A 2: 91,043,240 M297K probably benign Het
Senp5 A C 16: 31,989,770 V195G probably damaging Het
Trim25 T C 11: 88,999,691 V68A probably damaging Het
Ttc41 A T 10: 86,776,767 R1301S probably damaging Het
Vcan T C 13: 89,689,745 Y1600C probably damaging Het
Washc5 A G 15: 59,342,015 I864T possibly damaging Het
Wif1 T A 10: 121,083,985 probably null Het
Zdhhc15 G A X: 104,565,816 R208C probably damaging Het
Other mutations in Camk2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Camk2a APN 18 60980156 critical splice donor site probably null
IGL02117:Camk2a APN 18 60977989 missense probably damaging 0.99
frantic UTSW 18 60963928 nonsense probably null
R0003:Camk2a UTSW 18 60960007 missense probably damaging 0.99
R0373:Camk2a UTSW 18 60958238 missense probably damaging 0.98
R0589:Camk2a UTSW 18 60963964 critical splice donor site probably null
R1135:Camk2a UTSW 18 60957396 critical splice donor site probably null
R1199:Camk2a UTSW 18 60952324 nonsense probably null
R2159:Camk2a UTSW 18 60957185 missense probably damaging 1.00
R2291:Camk2a UTSW 18 60963959 missense probably damaging 1.00
R4022:Camk2a UTSW 18 60963928 nonsense probably null
R4662:Camk2a UTSW 18 60941339 missense probably damaging 1.00
R4664:Camk2a UTSW 18 60955624 missense possibly damaging 0.91
R4859:Camk2a UTSW 18 60943174 intron probably benign
R5119:Camk2a UTSW 18 60943136 intron probably benign
R5291:Camk2a UTSW 18 60957164 missense probably damaging 1.00
R5503:Camk2a UTSW 18 60978000 missense probably damaging 0.99
R5874:Camk2a UTSW 18 60943200 intron probably benign
R5997:Camk2a UTSW 18 60977957 missense probably damaging 1.00
R6109:Camk2a UTSW 18 60943234 nonsense probably null
R6772:Camk2a UTSW 18 60969020 missense probably benign 0.21
R6939:Camk2a UTSW 18 60958154 missense probably damaging 1.00
R6977:Camk2a UTSW 18 60960004 missense probably damaging 1.00
R6993:Camk2a UTSW 18 60943175 intron probably benign
R7247:Camk2a UTSW 18 60943205 missense unknown
R7625:Camk2a UTSW 18 60952340 missense probably damaging 0.97
R7900:Camk2a UTSW 18 60957366 missense probably damaging 1.00
R7983:Camk2a UTSW 18 60957366 missense probably damaging 1.00
X0020:Camk2a UTSW 18 60960037 missense possibly damaging 0.89
X0026:Camk2a UTSW 18 60952136 missense possibly damaging 0.87
Z1088:Camk2a UTSW 18 60943150 intron probably benign
Posted On2014-01-21