Incidental Mutation 'R6145:Camk2d'
ID 488798
Institutional Source Beutler Lab
Gene Symbol Camk2d
Ensembl Gene ENSMUSG00000053819
Gene Name calcium/calmodulin-dependent protein kinase II, delta
Synonyms CaMK II, 2810011D23Rik, 8030469K03Rik
MMRRC Submission 044292-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # R6145 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 126596302-126846326 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126805858 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 329 (I329T)
Ref Sequence ENSEMBL: ENSMUSP00000129999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066452] [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000134466] [ENSMUST00000145454] [ENSMUST00000200171] [ENSMUST00000171289] [ENSMUST00000163226] [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
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 unknown
Transcript: ENSMUST00000106399
AA Change: I329T
SMART Domains Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: I329T

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: I329T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: I329T

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 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: 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: ENSMUST00000147043
Predicted Effect unknown
Transcript: ENSMUST00000200171
AA Change: I329T
SMART Domains Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: I329T

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 probably benign
Transcript: ENSMUST00000171289
AA Change: I329T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: I329T

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: 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: 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: ENSMUST00000167985
SMART Domains Protein: ENSMUSP00000126207
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
Pfam:CaMKII_AD 59 130 2.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197660
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: 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: 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 95.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T A 1: 86,052,942 (GRCm38) probably null Het
4930402H24Rik T C 2: 130,778,473 (GRCm38) I247V probably benign Het
Abca8b A G 11: 109,973,808 (GRCm38) V316A probably benign Het
Acad10 A T 5: 121,622,033 (GRCm38) V999D probably damaging Het
Acot8 A G 2: 164,803,065 (GRCm38) V66A probably benign Het
Ankrd11 T C 8: 122,892,661 (GRCm38) H1484R probably damaging Het
Anxa6 A G 11: 54,994,904 (GRCm38) F405S probably damaging Het
Asmt G A X: 170,674,663 (GRCm38) V101I probably damaging Het
Atp1a2 C T 1: 172,287,238 (GRCm38) V327I probably damaging Het
Brdt A G 5: 107,377,999 (GRCm38) E906G possibly damaging Het
Cacna1g A T 11: 94,462,261 (GRCm38) C313S probably damaging Het
Cavin4 A T 4: 48,663,794 (GRCm38) H58L probably damaging Het
Ccdc78 C A 17: 25,789,065 (GRCm38) P317T probably benign Het
Cdc16 T G 8: 13,767,573 (GRCm38) Y295D possibly damaging Het
Cdyl2 T A 8: 116,594,978 (GRCm38) N270I probably damaging Het
Cfap221 T A 1: 119,984,816 (GRCm38) I114F possibly damaging Het
Dmxl1 A G 18: 49,912,766 (GRCm38) E2414G possibly damaging Het
Dnah1 C A 14: 31,300,970 (GRCm38) R1070L probably benign Het
Dnah14 T C 1: 181,666,417 (GRCm38) S1713P probably benign Het
Dock10 C A 1: 80,575,904 (GRCm38) G602* probably null Het
Ep400 A T 5: 110,756,703 (GRCm38) V10D possibly damaging Het
Epas1 T C 17: 86,829,429 (GRCm38) C807R probably benign Het
Esrrb C T 12: 86,505,899 (GRCm38) P200L probably benign Het
Fbxw26 T C 9: 109,732,623 (GRCm38) I168V probably benign Het
Fsip2 A T 2: 82,993,768 (GRCm38) H6615L possibly damaging Het
Galk2 A T 2: 125,946,842 (GRCm38) Q272L possibly damaging Het
Gas7 A C 11: 67,629,612 (GRCm38) T43P probably damaging Het
Gm5134 A T 10: 75,995,839 (GRCm38) I371F probably damaging Het
Gpr31b C T 17: 13,051,379 (GRCm38) R301Q possibly damaging Het
Grk1 T A 8: 13,405,765 (GRCm38) Y216* probably null Het
Grm5 T A 7: 88,026,601 (GRCm38) M441K probably damaging Het
Heatr6 A G 11: 83,766,136 (GRCm38) E408G probably damaging Het
Hoxc9 G T 15: 102,983,959 (GRCm38) K201N probably damaging Het
Igsf10 T A 3: 59,331,656 (GRCm38) Y368F possibly damaging Het
Il2ra A T 2: 11,680,246 (GRCm38) D131V probably damaging Het
Imp4 A G 1: 34,440,096 (GRCm38) E19G probably benign Het
Kcnk18 T C 19: 59,235,607 (GRCm38) *395Q probably null Het
Kdm6b A T 11: 69,405,026 (GRCm38) L805Q unknown Het
Lgr4 T A 2: 110,007,243 (GRCm38) L427* probably null Het
Myt1l G A 12: 29,832,381 (GRCm38) S525N unknown Het
Nasp G A 4: 116,611,077 (GRCm38) T237I probably benign Het
Nell2 G T 15: 95,473,561 (GRCm38) Q98K probably damaging Het
Nfasc C T 1: 132,634,717 (GRCm38) G107R probably damaging Het
Nsun4 A G 4: 116,040,206 (GRCm38) S203P probably damaging Het
Olfr24 T G 9: 18,755,569 (GRCm38) D22A probably benign Het
Olfr855 T C 9: 19,584,888 (GRCm38) V117A probably benign Het
Otogl G A 10: 107,777,117 (GRCm38) silent Het
Pde10a T C 17: 8,929,117 (GRCm38) V366A probably damaging Het
Pdxk T A 10: 78,443,791 (GRCm38) D250V probably benign Het
Pih1d1 T A 7: 45,159,044 (GRCm38) I179N probably damaging Het
Plaa T A 4: 94,583,992 (GRCm38) I294F probably damaging Het
Pmel C A 10: 128,715,935 (GRCm38) P213T probably damaging Het
Pom121l2 A T 13: 21,982,302 (GRCm38) R248* probably null Het
Pou2f1 T C 1: 165,875,433 (GRCm38) probably benign Het
Ppm1j G A 3: 104,781,379 (GRCm38) R98H probably damaging Het
Prkdc C T 16: 15,772,073 (GRCm38) P2600L probably damaging Het
Prom1 T C 5: 44,029,649 (GRCm38) N422S probably benign Het
Pspn C T 17: 56,999,467 (GRCm38) C154Y probably damaging Het
Ptdss1 T C 13: 66,972,637 (GRCm38) probably null Het
Rapgef1 A G 2: 29,736,666 (GRCm38) Y993C probably damaging Het
Scrn2 A C 11: 97,032,853 (GRCm38) T219P probably benign Het
Sec23ip T G 7: 128,778,484 (GRCm38) S874R probably damaging Het
Sept4 G A 11: 87,585,246 (GRCm38) probably null Het
Slc15a3 C T 19: 10,857,251 (GRCm38) L499F probably damaging Het
Spaca9 G A 2: 28,693,781 (GRCm38) R64W probably damaging Het
Sra1 A G 18: 36,667,575 (GRCm38) M193T probably damaging Het
Srsf4 G T 4: 131,900,294 (GRCm38) probably benign Het
Syne1 T C 10: 5,052,750 (GRCm38) D8055G probably damaging Het
Syne4 T A 7: 30,316,563 (GRCm38) probably null Het
Tbc1d24 C A 17: 24,208,229 (GRCm38) G253V probably damaging Het
Tbck T A 3: 132,732,215 (GRCm38) I467N probably damaging Het
Tln1 T A 4: 43,538,030 (GRCm38) M1857L possibly damaging Het
Ttll2 T C 17: 7,351,632 (GRCm38) R299G probably benign Het
Ugt2b36 T G 5: 87,066,213 (GRCm38) E524A probably benign Het
Vmn2r124 C T 17: 18,062,851 (GRCm38) T269I probably benign Het
Vmn2r4 A G 3: 64,406,943 (GRCm38) F206L probably benign Het
Zfp346 A G 13: 55,115,574 (GRCm38) K156R probably damaging Het
Other mutations in Camk2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Camk2d APN 3 126,838,272 (GRCm38) nonsense probably null
IGL01113:Camk2d APN 3 126,780,412 (GRCm38) missense probably damaging 1.00
IGL01125:Camk2d APN 3 126,798,285 (GRCm38) splice site probably benign
IGL01912:Camk2d APN 3 126,810,632 (GRCm38) splice site probably null
IGL01934:Camk2d APN 3 126,834,655 (GRCm38) splice site probably null
IGL02184:Camk2d APN 3 126,797,773 (GRCm38) missense probably damaging 0.97
IGL02218:Camk2d APN 3 126,840,153 (GRCm38) missense probably benign 0.00
IGL02804:Camk2d APN 3 126,797,738 (GRCm38) missense possibly damaging 0.53
IGL03347:Camk2d APN 3 126,796,901 (GRCm38) missense probably damaging 1.00
IGL03354:Camk2d APN 3 126,796,966 (GRCm38) splice site probably null
baryon UTSW 3 126,597,482 (GRCm38) nonsense probably null
Neutron UTSW 3 126,780,420 (GRCm38) missense probably damaging 1.00
R0024:Camk2d UTSW 3 126,797,723 (GRCm38) missense probably benign 0.01
R0024:Camk2d UTSW 3 126,797,723 (GRCm38) missense probably benign 0.01
R0628:Camk2d UTSW 3 126,810,624 (GRCm38) splice site probably benign
R1114:Camk2d UTSW 3 126,840,292 (GRCm38) missense probably damaging 1.00
R1433:Camk2d UTSW 3 126,808,224 (GRCm38) missense probably benign 0.25
R2021:Camk2d UTSW 3 126,780,456 (GRCm38) missense probably damaging 1.00
R2096:Camk2d UTSW 3 126,780,442 (GRCm38) missense probably damaging 1.00
R2098:Camk2d UTSW 3 126,780,442 (GRCm38) missense probably damaging 1.00
R2421:Camk2d UTSW 3 126,780,415 (GRCm38) missense probably damaging 1.00
R2437:Camk2d UTSW 3 126,834,628 (GRCm38) missense probably damaging 1.00
R2930:Camk2d UTSW 3 126,808,231 (GRCm38) missense possibly damaging 0.86
R3738:Camk2d UTSW 3 126,771,839 (GRCm38) missense probably damaging 1.00
R3969:Camk2d UTSW 3 126,796,959 (GRCm38) missense possibly damaging 0.81
R4455:Camk2d UTSW 3 126,780,403 (GRCm38) missense probably damaging 1.00
R4829:Camk2d UTSW 3 126,779,997 (GRCm38) intron probably benign
R4916:Camk2d UTSW 3 126,783,975 (GRCm38) missense probably damaging 1.00
R5277:Camk2d UTSW 3 126,684,741 (GRCm38) intron probably benign
R5329:Camk2d UTSW 3 126,597,482 (GRCm38) nonsense probably null
R5364:Camk2d UTSW 3 126,780,420 (GRCm38) missense probably damaging 1.00
R5473:Camk2d UTSW 3 126,597,399 (GRCm38) utr 5 prime probably benign
R5509:Camk2d UTSW 3 126,840,316 (GRCm38) missense probably damaging 1.00
R5958:Camk2d UTSW 3 126,779,865 (GRCm38) intron probably benign
R6010:Camk2d UTSW 3 126,797,714 (GRCm38) missense possibly damaging 0.83
R7267:Camk2d UTSW 3 126,797,730 (GRCm38) missense possibly damaging 0.59
R7708:Camk2d UTSW 3 126,597,440 (GRCm38) start codon destroyed probably benign 0.00
R8249:Camk2d UTSW 3 126,797,729 (GRCm38) missense probably damaging 1.00
R8554:Camk2d UTSW 3 126,770,799 (GRCm38) missense possibly damaging 0.92
R9489:Camk2d UTSW 3 126,767,560 (GRCm38) missense probably damaging 1.00
R9698:Camk2d UTSW 3 126,840,184 (GRCm38) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACAGGGTCCTAGTCTGTGTG -3'
(R):5'- TGTTAGAAACACACTGCTGGAC -3'

Sequencing Primer
(F):5'- TGTGACCTTCAGGAACTAGACATGC -3'
(R):5'- ACTGCTGGACAACTATCTCAAG -3'
Posted On 2017-10-10