Incidental Mutation 'IGL01071:Camk2a'
ID53151
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: 0.201) question?
Stock #IGL01071
Quality Score
Status
Chromosome18
Chromosomal Location60925618-60988152 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 60980156 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025519] [ENSMUST00000039904] [ENSMUST00000102888] [ENSMUST00000115295]
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 null
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 null
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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A C 6: 65,953,153 D124A probably damaging Het
Arhgef17 C A 7: 100,885,700 V1137L probably damaging Het
Birc6 A T 17: 74,631,701 N2701Y probably damaging Het
Birc6 A G 17: 74,566,132 D462G possibly damaging Het
Cadps C T 14: 12,509,091 probably null Het
Capn10 T A 1: 92,945,075 W508R probably damaging Het
Cntn3 A T 6: 102,420,251 probably null Het
Crisp4 A G 1: 18,137,007 V19A probably benign Het
Depdc1b A T 13: 108,357,441 Y121F probably benign Het
Dsg1b T A 18: 20,409,215 S926R probably damaging Het
Eml6 A G 11: 29,850,816 probably null Het
Fam208a T A 14: 27,442,622 probably null Het
Gm26938 A C 5: 139,808,473 V117G possibly damaging Het
Keg1 T A 19: 12,719,000 Y183N probably damaging Het
Mpi A T 9: 57,550,592 I109N probably damaging Het
Olfr1217 A G 2: 89,023,175 V276A probably benign Het
Olfr305 T C 7: 86,363,560 K259R possibly damaging Het
Olfr53 C T 7: 140,652,914 H312Y possibly damaging Het
Olfr530 C T 7: 140,373,185 A142T probably benign Het
Pcdhb20 A G 18: 37,504,685 E88G possibly damaging Het
Pde6b G A 5: 108,419,715 W290* probably null Het
Phf20 T A 2: 156,294,088 probably null Het
Pkd1l1 A T 11: 8,848,921 H1830Q probably benign Het
Proc T C 18: 32,123,717 D299G probably damaging Het
Psmd14 A G 2: 61,800,063 T306A probably benign Het
Rab32 G A 10: 10,557,847 A81V probably damaging Het
Samd14 G A 11: 95,021,468 probably benign Het
Sh3rf1 T A 8: 61,225,959 C12S probably damaging Het
Sipa1l3 C T 7: 29,324,220 V663M possibly damaging Het
Slc2a5 A G 4: 150,120,733 probably benign Het
Tbkbp1 T C 11: 97,149,562 I9V probably damaging Het
Trip10 C A 17: 57,254,332 R196S possibly damaging Het
Vav1 T C 17: 57,299,176 Y267H probably benign Het
Wdr1 T C 5: 38,530,067 K207R probably benign Het
Other mutations in Camk2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Camk2a APN 18 60960050 splice 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
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 On2013-06-21