Incidental Mutation 'R2159:Camk2a'
ID235084
Institutional Source Beutler Lab
Gene Symbol Camk2a
Ensembl Gene ENSMUSG00000024617
Gene Namecalcium/calmodulin-dependent protein kinase II alpha
Synonymsalpha-CaMKII
MMRRC Submission 040162-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #R2159 (G1)
Quality Score225
Status Not validated
Chromosome18
Chromosomal Location60925618-60988152 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 60957185 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 199 (C199Y)
Ref Sequence ENSEMBL: ENSMUSP00000099952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025519] [ENSMUST00000102888]
PDB Structure
CRYSTAL STRUCTURE OF CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000025519
AA Change: C199Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617
AA Change: C199Y

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 damaging
Transcript: ENSMUST00000102888
AA Change: C199Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099952
Gene: ENSMUSG00000024617
AA Change: C199Y

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: 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: ENSMUST00000183978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184354
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,560,467 P174S probably benign Het
Aida C T 1: 183,322,379 P185S probably benign Het
Alg11 T G 8: 22,065,845 I374R probably benign Het
Ano9 T C 7: 141,108,117 I229V probably benign Het
Apob A T 12: 8,010,081 L2821F probably benign Het
Atp10b C T 11: 43,151,853 T80I possibly damaging Het
BC024139 T C 15: 76,121,488 H478R probably damaging Het
Btbd1 A T 7: 81,801,056 D325E possibly damaging Het
Casp3 A G 8: 46,634,288 D90G probably damaging Het
Ccnt2 A G 1: 127,775,154 H71R probably benign Het
Cdk2ap1 G A 5: 124,348,604 R65* probably null Het
Cebpb G T 2: 167,689,253 A78S probably benign Het
Col5a3 A G 9: 20,771,310 F1613L unknown Het
Cpd T C 11: 76,797,641 D935G probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 probably null Het
Cwc27 A G 13: 104,804,329 I174T probably damaging Het
Cyp21a1 C A 17: 34,802,404 R331L probably benign Het
Dnah5 A G 15: 28,252,545 T795A probably benign Het
Eif2ak2 A G 17: 78,874,018 V100A possibly damaging Het
Foxa3 A G 7: 19,014,184 V339A probably benign Het
Gp2 T C 7: 119,452,284 D236G probably benign Het
Gprc6a CAAA CA 10: 51,615,680 probably null Het
Gzmd T A 14: 56,130,696 H102L probably damaging Het
Klk1b1 A T 7: 43,970,433 I139F probably damaging Het
Lcmt2 G A 2: 121,139,285 P439L probably damaging Het
Loxl4 C T 19: 42,600,007 A570T probably damaging Het
Mga T A 2: 119,919,643 H674Q probably damaging Het
Mybpc3 A T 2: 91,125,370 K583M probably damaging Het
Ncoa6 G T 2: 155,407,713 P1224T probably damaging Het
Nostrin A G 2: 69,180,922 probably null Het
Olfr1264 A T 2: 90,021,538 V176E probably damaging Het
Olfr70 T C 4: 43,697,110 H21R probably benign Het
Oxsr1 A C 9: 119,304,814 D58E possibly damaging Het
Parm1 A G 5: 91,613,064 Y265C probably damaging Het
Phf10 C T 17: 14,952,664 E304K probably damaging Het
Prmt5 T C 14: 54,515,338 T139A probably benign Het
Ptgir A G 7: 16,906,869 M29V possibly damaging Het
Ptp4a3 A G 15: 73,752,016 T32A probably benign Het
Pwwp2b A T 7: 139,254,928 D95V possibly damaging Het
Rad51ap2 T C 12: 11,457,751 L558S possibly damaging Het
Rapgef4 A G 2: 72,174,881 D80G probably damaging Het
Sec24a T G 11: 51,712,350 H757P probably damaging Het
Sema4d T C 13: 51,720,535 N129D probably damaging Het
Serpini1 A G 3: 75,623,944 T323A probably benign Het
Setd1a G A 7: 127,785,489 R504H possibly damaging Het
Sftpb T C 6: 72,309,786 C226R probably damaging Het
Sp8 T C 12: 118,848,706 S99P possibly damaging Het
Srgap3 A G 6: 112,771,378 F438L probably damaging Het
Stim2 T C 5: 54,109,814 Y365H probably damaging Het
Stk36 A G 1: 74,634,737 Q1263R probably benign Het
Tectb C G 19: 55,180,999 probably benign Het
Troap G T 15: 99,077,586 A184S probably damaging Het
Ttn G A 2: 76,899,327 probably benign Het
Vmn2r108 C A 17: 20,469,101 A531S probably benign Het
Vmn2r12 T A 5: 109,091,474 I408F probably benign Het
Vmn2r8 T A 5: 108,802,303 E226V probably benign Het
Vmo1 A G 11: 70,513,782 F131S probably benign Het
Vwf T C 6: 125,626,341 F885L probably damaging Het
Wdpcp A T 11: 21,857,476 M618L probably benign Het
Wdr90 T C 17: 25,851,741 E1072G probably benign Het
Other mutations in Camk2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Camk2a APN 18 60980156 critical splice donor site probably null
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
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
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
Predicted Primers PCR Primer
(F):5'- ACAGTACAACCCCAGCTTTTG -3'
(R):5'- TACAGGCGATGCTGGTCTTC -3'

Sequencing Primer
(F):5'- TGTGTTCTCCAGCTCCAGGG -3'
(R):5'- TGGTCTTCATCCCAGAACGG -3'
Posted On2014-10-01