Incidental Mutation 'R0628:Camk2d'
ID 57685
Institutional Source Beutler Lab
Gene Symbol Camk2d
Ensembl Gene ENSMUSG00000053819
Gene Name calcium/calmodulin-dependent protein kinase II, delta
Synonyms CaMK II, 8030469K03Rik, 2810011D23Rik
MMRRC Submission 038817-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R0628 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 126389951-126639975 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 126604273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066452] [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000171289] [ENSMUST00000163226] [ENSMUST00000134466] [ENSMUST00000145454] [ENSMUST00000199300] [ENSMUST00000200171]
AlphaFold Q6PHZ2
Predicted Effect probably benign
Transcript: ENSMUST00000066452
SMART Domains Protein: ENSMUSP00000066996
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Pfam:CaMKII_AD 356 483 9.4e-67 PFAM
Pfam:DUF4440 360 474 5.4e-13 PFAM
Pfam:SnoaL_3 360 486 3.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066466
SMART Domains Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Pfam:CaMKII_AD 346 473 7.4e-67 PFAM
Pfam:DUF4440 350 464 4.7e-13 PFAM
Pfam:SnoaL_3 350 476 3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106399
SMART Domains Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Pfam:CaMKII_AD 357 484 3.5e-67 PFAM
Pfam:DUF4440 361 475 5.4e-13 PFAM
Pfam:SnoaL_3 361 487 3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106400
SMART Domains Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Pfam:CaMKII_AD 346 473 4.7e-67 PFAM
Pfam:DUF4440 350 464 3.2e-13 PFAM
Pfam:SnoaL_3 350 476 2.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106401
SMART Domains Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 1.33e-110 SMART
Pfam:CaMKII_AD 380 507 3.8e-67 PFAM
Pfam:DUF4440 384 498 5.8e-13 PFAM
Pfam:SnoaL_3 384 510 3.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106402
SMART Domains Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Pfam:CaMKII_AD 380 507 1.1e-66 PFAM
Pfam:DUF4440 384 498 8.1e-13 PFAM
Pfam:SnoaL_3 384 510 5.3e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129293
Predicted Effect probably benign
Transcript: ENSMUST00000171289
SMART Domains Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 1.33e-110 SMART
Pfam:CaMKII_AD 380 507 3.3e-63 PFAM
Pfam:DUF4440 384 498 3.2e-12 PFAM
Pfam:SnoaL_3 384 509 8.7e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167985
SMART Domains Protein: ENSMUSP00000126207
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
Pfam:CaMKII_AD 59 130 2.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163226
SMART Domains Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131869
SMART Domains Protein: ENSMUSP00000126412
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
Pfam:Pkinase 1 109 5.1e-26 PFAM
Pfam:Pkinase_Tyr 3 111 4.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170149
SMART Domains Protein: ENSMUSP00000130305
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
Pfam:CaMKII_AD 37 164 3.1e-64 PFAM
Pfam:DUF4440 41 155 8.8e-13 PFAM
Pfam:SnoaL_3 41 167 1.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169051
SMART Domains Protein: ENSMUSP00000132554
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Pfam:CaMKII_AD 346 473 6.9e-67 PFAM
Pfam:DUF4440 350 464 4.3e-13 PFAM
Pfam:SnoaL_3 350 476 2.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171950
Predicted Effect probably benign
Transcript: ENSMUST00000134466
SMART Domains Protein: ENSMUSP00000114801
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
Pfam:Pkinase 14 140 1e-33 PFAM
Pfam:Pkinase_Tyr 14 141 4.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145454
SMART Domains Protein: ENSMUSP00000130769
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
Pfam:Pkinase 14 140 1.4e-33 PFAM
Pfam:Pkinase_Tyr 14 142 4.7e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167417
SMART Domains Protein: ENSMUSP00000131124
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
Pfam:CaMKII_AD 53 180 4.8e-68 PFAM
Pfam:DUF4440 57 171 8.2e-14 PFAM
Pfam:SnoaL_3 57 183 4.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198637
Predicted Effect probably benign
Transcript: ENSMUST00000199300
SMART Domains Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Pfam:CaMKII_AD 346 473 1.3e-62 PFAM
Pfam:DUF4440 350 464 1.7e-11 PFAM
Pfam:SnoaL_3 350 475 4.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200171
SMART Domains Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Pfam:CaMKII_AD 380 507 9.8e-63 PFAM
Pfam:DUF4440 384 498 2.5e-11 PFAM
Pfam:SnoaL_3 384 509 5.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200010
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
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 kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced response to heart induced stress. Mice homozygous for an allele that produces an oxidant-resistant product exhibit reduced response to myocardial infarction in a diabetic model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A C 18: 65,440,367 (GRCm39) V809G possibly damaging Het
Bank1 T A 3: 135,772,151 (GRCm39) D493V probably damaging Het
Ccdc17 T A 4: 116,455,745 (GRCm39) L292H probably damaging Het
Ccdc7b A G 8: 129,837,498 (GRCm39) probably benign Het
Cd34 C A 1: 194,641,525 (GRCm39) T317K probably damaging Het
Col6a5 C G 9: 105,789,649 (GRCm39) probably null Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Copa T C 1: 171,918,592 (GRCm39) probably benign Het
Coq7 T C 7: 118,128,867 (GRCm39) D56G probably damaging Het
Dlg4 C T 11: 69,922,610 (GRCm39) T201I probably damaging Het
Dnah7a T A 1: 53,536,264 (GRCm39) D2593V probably benign Het
Ect2l T A 10: 18,018,788 (GRCm39) E536V probably damaging Het
Emilin3 A G 2: 160,752,799 (GRCm39) probably benign Het
Eml2 T C 7: 18,935,479 (GRCm39) probably benign Het
Fam135b C T 15: 71,320,505 (GRCm39) probably benign Het
Fhip2b T C 14: 70,825,161 (GRCm39) T392A possibly damaging Het
Gart C T 16: 91,430,790 (GRCm39) R424H probably benign Het
Gramd1a A G 7: 30,842,049 (GRCm39) L80P probably damaging Het
Herc1 A G 9: 66,358,163 (GRCm39) K2415E probably benign Het
Ica1 C T 6: 8,644,256 (GRCm39) probably benign Het
Idi2l T A 13: 8,990,958 (GRCm39) probably benign Het
Iyd A T 10: 3,497,127 (GRCm39) M161L probably damaging Het
Kdm5a T C 6: 120,392,200 (GRCm39) L974S probably damaging Het
Kif1a T C 1: 92,947,605 (GRCm39) D1619G probably damaging Het
Lypd8 C T 11: 58,275,499 (GRCm39) T78M probably damaging Het
Marchf10 T A 11: 105,280,986 (GRCm39) H433L probably benign Het
Mbp A G 18: 82,572,742 (GRCm39) Y13C probably damaging Het
Mertk A T 2: 128,580,233 (GRCm39) N229I probably damaging Het
Msrb2 T A 2: 19,398,091 (GRCm39) D116E probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Otoa G A 7: 120,744,873 (GRCm39) probably benign Het
Pclo A G 5: 14,719,552 (GRCm39) T1230A unknown Het
Polrmt T C 10: 79,574,979 (GRCm39) T851A possibly damaging Het
Prpf6 C T 2: 181,277,841 (GRCm39) P401L probably damaging Het
Rasgrp4 A G 7: 28,839,635 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,272,064 (GRCm39) probably benign Het
Reps1 A G 10: 17,996,841 (GRCm39) T588A probably damaging Het
Rtel1 A C 2: 180,993,674 (GRCm39) S782R probably benign Het
Sacm1l A G 9: 123,378,060 (GRCm39) probably benign Het
Skic3 G C 13: 76,298,848 (GRCm39) V1185L possibly damaging Het
Skint5 A T 4: 113,588,266 (GRCm39) L728* probably null Het
Slc9b2 T A 3: 135,029,536 (GRCm39) probably benign Het
Snapc3 A T 4: 83,368,397 (GRCm39) H298L probably benign Het
Tex9 A T 9: 72,399,233 (GRCm39) M1K probably null Het
Trappc13 C T 13: 104,291,424 (GRCm39) probably benign Het
Usp3 C T 9: 66,425,726 (GRCm39) R467H probably benign Het
Vmn2r11 T A 5: 109,195,597 (GRCm39) L576F possibly damaging Het
Wnk4 T C 11: 101,165,849 (GRCm39) F792S probably benign Het
Zfp1007 T C 5: 109,826,442 (GRCm39) probably null Het
Zfp280d T C 9: 72,269,230 (GRCm39) V764A probably benign Het
Zfp69 G A 4: 120,806,622 (GRCm39) Q4* probably null Het
Zfp692 T G 11: 58,200,449 (GRCm39) L206R probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zic4 T A 9: 91,266,170 (GRCm39) Y264* probably null Het
Zic4 T A 9: 91,266,172 (GRCm39) M272K probably benign Het
Zscan4b A T 7: 10,635,390 (GRCm39) N284K probably damaging Het
Other mutations in Camk2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Camk2d APN 3 126,631,921 (GRCm39) nonsense probably null
IGL01113:Camk2d APN 3 126,574,061 (GRCm39) missense probably damaging 1.00
IGL01125:Camk2d APN 3 126,591,934 (GRCm39) splice site probably benign
IGL01912:Camk2d APN 3 126,604,281 (GRCm39) splice site probably null
IGL01934:Camk2d APN 3 126,628,304 (GRCm39) splice site probably null
IGL02184:Camk2d APN 3 126,591,422 (GRCm39) missense probably damaging 0.97
IGL02218:Camk2d APN 3 126,633,802 (GRCm39) missense probably benign 0.00
IGL02804:Camk2d APN 3 126,591,387 (GRCm39) missense possibly damaging 0.53
IGL03347:Camk2d APN 3 126,590,550 (GRCm39) missense probably damaging 1.00
IGL03354:Camk2d APN 3 126,590,615 (GRCm39) splice site probably null
baryon UTSW 3 126,391,131 (GRCm39) nonsense probably null
Neutron UTSW 3 126,574,069 (GRCm39) missense probably damaging 1.00
R0024:Camk2d UTSW 3 126,591,372 (GRCm39) missense probably benign 0.01
R0024:Camk2d UTSW 3 126,591,372 (GRCm39) missense probably benign 0.01
R1114:Camk2d UTSW 3 126,633,941 (GRCm39) missense probably damaging 1.00
R1433:Camk2d UTSW 3 126,601,873 (GRCm39) missense probably benign 0.25
R2021:Camk2d UTSW 3 126,574,105 (GRCm39) missense probably damaging 1.00
R2096:Camk2d UTSW 3 126,574,091 (GRCm39) missense probably damaging 1.00
R2098:Camk2d UTSW 3 126,574,091 (GRCm39) missense probably damaging 1.00
R2421:Camk2d UTSW 3 126,574,064 (GRCm39) missense probably damaging 1.00
R2437:Camk2d UTSW 3 126,628,277 (GRCm39) missense probably damaging 1.00
R2930:Camk2d UTSW 3 126,601,880 (GRCm39) missense possibly damaging 0.86
R3738:Camk2d UTSW 3 126,565,488 (GRCm39) missense probably damaging 1.00
R3969:Camk2d UTSW 3 126,590,608 (GRCm39) missense possibly damaging 0.81
R4455:Camk2d UTSW 3 126,574,052 (GRCm39) missense probably damaging 1.00
R4829:Camk2d UTSW 3 126,573,646 (GRCm39) intron probably benign
R4916:Camk2d UTSW 3 126,577,624 (GRCm39) missense probably damaging 1.00
R5277:Camk2d UTSW 3 126,478,390 (GRCm39) intron probably benign
R5329:Camk2d UTSW 3 126,391,131 (GRCm39) nonsense probably null
R5364:Camk2d UTSW 3 126,574,069 (GRCm39) missense probably damaging 1.00
R5473:Camk2d UTSW 3 126,391,048 (GRCm39) utr 5 prime probably benign
R5509:Camk2d UTSW 3 126,633,965 (GRCm39) missense probably damaging 1.00
R5958:Camk2d UTSW 3 126,573,514 (GRCm39) intron probably benign
R6010:Camk2d UTSW 3 126,591,363 (GRCm39) missense possibly damaging 0.83
R6145:Camk2d UTSW 3 126,599,507 (GRCm39) missense probably benign
R7267:Camk2d UTSW 3 126,591,379 (GRCm39) missense possibly damaging 0.59
R7708:Camk2d UTSW 3 126,391,089 (GRCm39) start codon destroyed probably benign 0.00
R8249:Camk2d UTSW 3 126,591,378 (GRCm39) missense probably damaging 1.00
R8554:Camk2d UTSW 3 126,564,448 (GRCm39) missense possibly damaging 0.92
R9489:Camk2d UTSW 3 126,561,209 (GRCm39) missense probably damaging 1.00
R9698:Camk2d UTSW 3 126,633,833 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ATCCGTGACTAGGCAACCAGAGTG -3'
(R):5'- TGTCAACAATATGCTTGCACAGAACAC -3'

Sequencing Primer
(F):5'- AGTGCTCCCTTTGAAATGTTTGC -3'
(R):5'- GCTGACATATTCACAGAGTGATTC -3'
Posted On 2013-07-11