Incidental Mutation 'R1433:Camk2d'
ID 159294
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 039488-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R1433 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 126389951-126639975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126601873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 354 (V354A)
Ref Sequence ENSEMBL: ENSMUSP00000129999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066452] [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000171289] [ENSMUST00000145454] [ENSMUST00000163226] [ENSMUST00000134466] [ENSMUST00000200171] [ENSMUST00000199300]
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
AA Change: V334A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: V334A

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 unknown
Transcript: ENSMUST00000106399
AA Change: V354A
SMART Domains Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: V354A

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
AA Change: V354A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: V354A

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 probably benign
Transcript: ENSMUST00000171289
AA Change: V354A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: V354A

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: 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 noncoding transcript
Transcript: ENSMUST00000129293
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 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: ENSMUST00000171950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147043
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 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 probably benign
Transcript: ENSMUST00000163226
SMART Domains Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
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 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 unknown
Transcript: ENSMUST00000200171
AA Change: V354A
SMART Domains Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: V354A

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: ENSMUST00000197660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198487
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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.9%
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 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 C T 12: 30,945,934 (GRCm39) E140K possibly damaging Het
Acsm4 T A 7: 119,293,042 (GRCm39) D57E probably damaging Het
Adamts9 A G 6: 92,826,271 (GRCm39) probably null Het
Aen T A 7: 78,557,060 (GRCm39) Y303N probably damaging Het
Alcam T C 16: 52,116,115 (GRCm39) probably null Het
Apol7b A G 15: 77,309,746 (GRCm39) L17P probably damaging Het
Cacna1c A T 6: 118,629,754 (GRCm39) Y1058* probably null Het
Carf T G 1: 60,164,017 (GRCm39) M43R probably damaging Het
Casp8 T A 1: 58,863,283 (GRCm39) F81Y probably damaging Het
Cd74 G A 18: 60,937,064 (GRCm39) R20H probably benign Het
Cers5 A T 15: 99,643,812 (GRCm39) Y16* probably null Het
Chuk A T 19: 44,067,397 (GRCm39) M586K probably null Het
D130043K22Rik C A 13: 25,055,324 (GRCm39) P496Q probably damaging Het
Dab2 A G 15: 6,459,419 (GRCm39) R311G probably damaging Het
Depp1 A T 6: 116,629,223 (GRCm39) S189C possibly damaging Het
Diaph1 A T 18: 38,038,187 (GRCm39) I48N unknown Het
Dnajc13 T C 9: 104,057,320 (GRCm39) D1560G probably damaging Het
Dsg2 T C 18: 20,715,780 (GRCm39) S241P probably damaging Het
Efcab5 T C 11: 76,996,204 (GRCm39) D1119G probably benign Het
Efr3a G T 15: 65,740,906 (GRCm39) probably benign Het
Evc2 A G 5: 37,550,427 (GRCm39) K814E probably damaging Het
Hic2 A G 16: 17,076,686 (GRCm39) D505G probably benign Het
Ing1 T A 8: 11,607,010 (GRCm39) V34D probably damaging Het
Inpp5k A G 11: 75,528,317 (GRCm39) M172V probably benign Het
Itgae T C 11: 73,006,418 (GRCm39) V362A probably damaging Het
Lama2 T A 10: 27,063,750 (GRCm39) R1346S probably damaging Het
Lrrc7 T C 3: 157,882,943 (GRCm39) N450S probably damaging Het
Lrrn3 T A 12: 41,502,583 (GRCm39) Y578F possibly damaging Het
Maml2 A T 9: 13,617,797 (GRCm39) N381I probably damaging Het
Mettl15 T G 2: 108,923,266 (GRCm39) E385D probably benign Het
Mthfr T A 4: 148,139,900 (GRCm39) I623N possibly damaging Het
Muc4 A C 16: 32,574,448 (GRCm39) N966T probably benign Het
Myoc A G 1: 162,476,565 (GRCm39) Y423C probably damaging Het
Ncoa2 A T 1: 13,218,602 (GRCm39) M1409K probably benign Het
Ncor2 T C 5: 125,187,039 (GRCm39) probably benign Het
Numb T C 12: 83,844,033 (GRCm39) E395G probably damaging Het
Oas1g A G 5: 121,020,012 (GRCm39) F198S probably damaging Het
Or2b28 T C 13: 21,531,194 (GRCm39) V32A probably benign Het
Or5k17 A G 16: 58,746,049 (GRCm39) V295A probably benign Het
Prdm13 T A 4: 21,678,909 (GRCm39) Y527F probably damaging Het
Prr14l A G 5: 32,986,177 (GRCm39) L1106P probably damaging Het
Ptbp1 T A 10: 79,699,107 (GRCm39) I555N probably damaging Het
Ptchd4 A T 17: 42,814,606 (GRCm39) T836S possibly damaging Het
Rlbp1 T C 7: 79,033,686 (GRCm39) D3G probably benign Het
Sdk2 T C 11: 113,685,871 (GRCm39) E1883G probably damaging Het
Serpinc1 A T 1: 160,820,974 (GRCm39) K140N probably damaging Het
Serpind1 A T 16: 17,160,249 (GRCm39) Y382F probably damaging Het
Slc28a3 T C 13: 58,710,920 (GRCm39) E534G probably damaging Het
Slco1a7 A G 6: 141,711,429 (GRCm39) M94T probably benign Het
Ttyh2 T A 11: 114,601,005 (GRCm39) I418N probably benign Het
Tubgcp4 C T 2: 121,005,905 (GRCm39) Q98* probably null Het
Ugt2a2 A G 5: 87,611,965 (GRCm39) L315P probably damaging Het
Vwa1 A T 4: 155,857,358 (GRCm39) S147T probably damaging Het
Xylt1 T C 7: 117,191,179 (GRCm39) V325A possibly damaging Het
Zfp335 T C 2: 164,741,376 (GRCm39) H685R 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
R0628:Camk2d UTSW 3 126,604,273 (GRCm39) splice site probably benign
R1114:Camk2d UTSW 3 126,633,941 (GRCm39) missense probably damaging 1.00
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'- TGACAGCCCCTTACCTGGCTTTAG -3'
(R):5'- CCACTGTGACAACAGAGGACAATGG -3'

Sequencing Primer
(F):5'- AGCTCTTGTCACTAGTCTTGTCTG -3'
(R):5'- tctctctctctctttctctctctc -3'
Posted On 2014-03-14