Incidental Mutation 'R9513:Camk2a'
ID 718339
Institutional Source Beutler Lab
Gene Symbol Camk2a
Ensembl Gene ENSMUSG00000024617
Gene Name calcium/calmodulin-dependent protein kinase II alpha
Synonyms alpha-CaMKII
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # R9513 (G1)
Quality Score 139.008
Status Not validated
Chromosome 18
Chromosomal Location 61058704-61121224 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 61088607 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025519] [ENSMUST00000102888] [ENSMUST00000102888] [ENSMUST00000102888] [ENSMUST00000102888]
AlphaFold P11798
PDB Structure CRYSTAL STRUCTURE OF CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE [X-RAY DIFFRACTION]
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 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: 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: 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: 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: 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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Accsl T C 2: 93,699,498 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,530,472 (GRCm39) K5867N possibly damaging Het
Adh1 T A 3: 137,988,571 (GRCm39) Y181* probably null Het
Agbl2 T C 2: 90,631,458 (GRCm39) V272A possibly damaging Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Amotl1 A T 9: 14,526,063 (GRCm39) S6T probably benign Het
Bicd1 T A 6: 149,414,391 (GRCm39) V368E probably damaging Het
Brinp2 G A 1: 158,074,273 (GRCm39) T616I probably damaging Het
C1rl T A 6: 124,485,802 (GRCm39) V391E probably damaging Het
Cacna1e T A 1: 154,318,033 (GRCm39) I1450F probably damaging Het
Ccdc125 A G 13: 100,826,875 (GRCm39) E244G probably benign Het
Cdh23 C T 10: 60,166,995 (GRCm39) A1884T probably damaging Het
Clcn1 T C 6: 42,282,462 (GRCm39) I510T probably damaging Het
Copb1 A T 7: 113,831,432 (GRCm39) V572D probably benign Het
Ctf1 AGCAAC A 7: 127,316,180 (GRCm39) probably null Het
Dnhd1 T A 7: 105,354,179 (GRCm39) L3053Q probably damaging Het
Ephb4 T A 5: 137,361,564 (GRCm39) H531Q possibly damaging Het
Fgl2 T A 5: 21,580,790 (GRCm39) C377* probably null Het
Frmd4a T C 2: 4,608,711 (GRCm39) F860L probably damaging Het
Gbp9 T C 5: 105,229,091 (GRCm39) N519D probably benign Het
Gm1110 A G 9: 26,795,083 (GRCm39) S468P possibly damaging Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gnas T C 2: 174,185,089 (GRCm39) Y916H probably damaging Het
Hectd1 T C 12: 51,816,079 (GRCm39) D1336G possibly damaging Het
Herc2 G T 7: 55,762,848 (GRCm39) G859V probably damaging Het
Hydin G A 8: 111,322,114 (GRCm39) D4589N probably damaging Het
Itfg1 A T 8: 86,490,875 (GRCm39) N351K possibly damaging Het
Kcnd3 G A 3: 105,572,863 (GRCm39) probably null Het
Krt77 A T 15: 101,769,779 (GRCm39) Y364N probably damaging Het
Lcn4 C T 2: 26,560,613 (GRCm39) probably null Het
Lrrn1 T A 6: 107,545,505 (GRCm39) H434Q probably benign Het
Lrrtm2 A G 18: 35,346,687 (GRCm39) I205T probably damaging Het
Mepce G C 5: 137,783,759 (GRCm39) P189R probably damaging Het
Mfap1a T C 2: 121,330,084 (GRCm39) K221E probably benign Het
Myo7a A G 7: 97,746,818 (GRCm39) probably null Het
Ncbp3 T C 11: 72,938,727 (GRCm39) M1T probably null Het
Nck1 A T 9: 100,379,369 (GRCm39) M294K probably benign Het
Nr2f2 A T 7: 70,010,056 (GRCm39) W8R probably damaging Het
Or12e10 T A 2: 87,640,187 (GRCm39) S8T possibly damaging Het
Or1e20-ps1 T A 11: 73,324,818 (GRCm39) Q78L unknown Het
Or4c12b A T 2: 89,647,553 (GRCm39) R288S probably damaging Het
Or6ae1 T A 7: 139,742,822 (GRCm39) I14F possibly damaging Het
Or7e169 A G 9: 19,757,816 (GRCm39) L33P possibly damaging Het
Or8g18 T C 9: 39,149,625 (GRCm39) T32A probably benign Het
Or8j3c A T 2: 86,253,707 (GRCm39) F104L probably damaging Het
Pcdha1 A G 18: 37,065,286 (GRCm39) K650R probably benign Het
Pgm1 T A 4: 99,841,242 (GRCm39) I532N probably damaging Het
Pik3c2a T A 7: 115,939,321 (GRCm39) K1672N probably benign Het
Pou3f1 G A 4: 124,552,835 (GRCm39) G446S probably benign Het
Ppm1j T C 3: 104,693,134 (GRCm39) I497T probably damaging Het
Pprc1 C T 19: 46,056,500 (GRCm39) Q1202* probably null Het
Pramel30 T A 4: 144,059,678 (GRCm39) I463N possibly damaging Het
Prdm15 T C 16: 97,607,704 (GRCm39) N713S probably damaging Het
Ptprb A G 10: 116,138,142 (GRCm39) T62A probably benign Het
Rabl2 T A 15: 89,474,631 (GRCm39) probably null Het
Ranbp3l A T 15: 9,037,176 (GRCm39) R149* probably null Het
Resf1 T A 6: 149,229,793 (GRCm39) Y946* probably null Het
Rfx4 T A 10: 84,674,050 (GRCm39) M1K probably null Het
Ripk4 G T 16: 97,547,098 (GRCm39) S388* probably null Het
Rnft1 T G 11: 86,377,065 (GRCm39) I43R possibly damaging Het
Setbp1 A T 18: 78,899,781 (GRCm39) F1295L probably damaging Het
Sez6 A G 11: 77,865,409 (GRCm39) D682G probably damaging Het
Slc1a1 T C 19: 28,812,734 (GRCm39) probably null Het
Slc7a5 G T 8: 122,613,616 (GRCm39) T312K probably benign Het
Slco4c1 A T 1: 96,799,643 (GRCm39) N64K probably benign Het
Spata13 C T 14: 60,929,849 (GRCm39) T469I probably benign Het
Stxbp5 T A 10: 9,687,754 (GRCm39) N440I probably benign Het
Tas2r114 T A 6: 131,666,746 (GRCm39) Q94L probably benign Het
Tasor T A 14: 27,186,271 (GRCm39) C823* probably null Het
Tfr2 A G 5: 137,575,769 (GRCm39) D295G possibly damaging Het
Thap7 A G 16: 17,348,152 (GRCm39) Y60H probably damaging Het
Tjap1 G T 17: 46,569,733 (GRCm39) P409H probably damaging Het
Tmtc4 G A 14: 123,209,204 (GRCm39) A147V probably benign Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Tpra1 T C 6: 88,887,221 (GRCm39) V193A probably benign Het
Trafd1 T C 5: 121,516,837 (GRCm39) N122S possibly damaging Het
Vmn1r151 T A 7: 22,199,096 (GRCm39) D3V probably benign Het
Wdr20rt A G 12: 65,272,825 (GRCm39) Y96C probably damaging Het
Zfp507 A G 7: 35,475,573 (GRCm39) V880A probably benign Het
Zfp598 A G 17: 24,896,568 (GRCm39) D215G probably damaging Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P probably damaging Het
Zfp738 A T 13: 67,817,635 (GRCm39) C785* probably null Het
Zfp985 C T 4: 147,667,999 (GRCm39) T289I probably damaging Het
Zkscan6 T A 11: 65,712,795 (GRCm39) Y243N 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
R6109:Camk2a UTSW 18 61,076,306 (GRCm39) nonsense probably null
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
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'- GCAAATGATACGGGTCTTGCC -3'
(R):5'- GACCAAACAGCCATCTTCTCTTAGG -3'

Sequencing Primer
(F):5'- AATGATACGGGTCTTGCCACAGTC -3'
(R):5'- TCTTAGGCAGAGGGTTCCCAG -3'
Posted On 2022-07-18