Incidental Mutation 'IGL03354:Camk2d'
ID419878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camk2d
Ensembl Gene ENSMUSG00000053819
Gene Namecalcium/calmodulin-dependent protein kinase II, delta
SynonymsCaMK II, 2810011D23Rik, 8030469K03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #IGL03354
Quality Score
Status
Chromosome3
Chromosomal Location126596302-126846326 bp(+) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) T to C at 126796966 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000134466] [ENSMUST00000145454] [ENSMUST00000163226] [ENSMUST00000171289] [ENSMUST00000199300] [ENSMUST00000200171]
Predicted Effect probably null
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 null
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 null
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 null
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 null
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 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 probably null
Transcript: ENSMUST00000163226
SMART Domains Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
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 probably null
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: 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 null
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 noncoding transcript
Transcript: ENSMUST00000171950
Predicted Effect probably null
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: 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
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,646,779 A309T possibly damaging Het
Abca15 C A 7: 120,394,488 Y1310* probably null Het
Adad1 G T 3: 37,106,173 C552F probably damaging Het
Adam22 A G 5: 8,158,890 S180P possibly damaging Het
Anxa10 A T 8: 62,096,744 D22E probably damaging Het
Astn1 T C 1: 158,688,604 S1255P probably damaging Het
Bhlhe41 T C 6: 145,864,203 T92A probably damaging Het
Bicc1 G A 10: 70,946,602 P603S probably benign Het
Ccdc136 T A 6: 29,419,103 I808N probably damaging Het
Cd200r3 C T 16: 44,953,597 A124V possibly damaging Het
Cfap70 T C 14: 20,431,982 E310G probably damaging Het
Cyp2d12 A T 15: 82,558,961 D357V probably damaging Het
Dnah7b G A 1: 46,085,689 V173I probably damaging Het
Dnajb4 T A 3: 152,186,478 E239D probably benign Het
Dzip1 G A 14: 118,912,569 probably benign Het
Emp2 A G 16: 10,285,565 I74T probably damaging Het
Ermn T G 2: 58,052,622 E32A probably benign Het
F10 C A 8: 13,045,089 T82N probably benign Het
Fam227a T C 15: 79,636,750 D295G possibly damaging Het
Gm527 T A 12: 64,922,380 F194I probably damaging Het
Gmcl1 G A 6: 86,726,158 T98M probably damaging Het
Gucy2g T C 19: 55,233,080 R330G possibly damaging Het
Hist1h1e C T 13: 23,622,077 probably benign Het
Kif1a T C 1: 93,060,235 H549R probably damaging Het
Klhl14 T A 18: 21,651,728 D214V probably damaging Het
Lipo2 A G 19: 33,730,870 F248S probably benign Het
Mctp2 C T 7: 72,161,244 V661I probably benign Het
Myh15 A T 16: 49,172,010 M1616L probably benign Het
Nlrp4b A T 7: 10,714,538 I223F probably damaging Het
Olfr1133 T C 2: 87,645,595 N176S probably damaging Het
Olfr1367 T C 13: 21,347,516 V196A possibly damaging Het
Olfr1368 T C 13: 21,142,484 Y191C probably damaging Het
Olfr140 A C 2: 90,051,567 C252W probably damaging Het
Olfr347 A T 2: 36,734,512 S64C possibly damaging Het
Olfr347 G T 2: 36,734,513 S64I possibly damaging Het
Olfr508 T A 7: 108,630,528 C179S possibly damaging Het
Olfr706 A G 7: 106,886,100 V239A probably benign Het
Pcsk4 T C 10: 80,326,059 D116G probably damaging Het
Pibf1 A G 14: 99,150,738 D440G probably benign Het
Plekho2 T C 9: 65,559,421 E129G probably null Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rars A G 11: 35,824,475 L248P probably damaging Het
Ruvbl1 C A 6: 88,479,215 Y90* probably null Het
Schip1 A G 3: 68,494,965 D125G possibly damaging Het
Smarca2 T C 19: 26,619,903 S62P probably benign Het
Sort1 T C 3: 108,348,706 V656A probably benign Het
Tlr12 A G 4: 128,615,937 L840P probably damaging Het
Trpm3 T A 19: 22,856,718 I438N probably damaging Het
Ttc37 T C 13: 76,182,822 V1457A possibly damaging Het
Wdr11 C A 7: 129,625,302 F829L probably benign Het
Zdhhc11 A T 13: 73,979,145 I214F possibly damaging Het
Other mutations in Camk2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Camk2d APN 3 126838272 nonsense probably null
IGL01113:Camk2d APN 3 126780412 missense probably damaging 1.00
IGL01125:Camk2d APN 3 126798285 splice site probably benign
IGL01912:Camk2d APN 3 126810632 splice site probably null
IGL01934:Camk2d APN 3 126834655 splice site probably null
IGL02184:Camk2d APN 3 126797773 missense probably damaging 0.97
IGL02218:Camk2d APN 3 126840153 missense probably benign 0.00
IGL02804:Camk2d APN 3 126797738 missense possibly damaging 0.53
IGL03347:Camk2d APN 3 126796901 missense probably damaging 1.00
baryon UTSW 3 126597482 nonsense probably null
neutron UTSW 3 126780420 missense probably damaging 1.00
R0024:Camk2d UTSW 3 126797723 missense probably benign 0.01
R0024:Camk2d UTSW 3 126797723 missense probably benign 0.01
R0628:Camk2d UTSW 3 126810624 splice site probably benign
R1114:Camk2d UTSW 3 126840292 missense probably damaging 1.00
R1433:Camk2d UTSW 3 126808224 missense probably benign 0.25
R2021:Camk2d UTSW 3 126780456 missense probably damaging 1.00
R2096:Camk2d UTSW 3 126780442 missense probably damaging 1.00
R2098:Camk2d UTSW 3 126780442 missense probably damaging 1.00
R2421:Camk2d UTSW 3 126780415 missense probably damaging 1.00
R2437:Camk2d UTSW 3 126834628 missense probably damaging 1.00
R2930:Camk2d UTSW 3 126808231 missense possibly damaging 0.86
R3738:Camk2d UTSW 3 126771839 missense probably damaging 1.00
R3969:Camk2d UTSW 3 126796959 missense possibly damaging 0.81
R4455:Camk2d UTSW 3 126780403 missense probably damaging 1.00
R4829:Camk2d UTSW 3 126779997 intron probably benign
R4916:Camk2d UTSW 3 126783975 missense probably damaging 1.00
R5277:Camk2d UTSW 3 126684741 intron probably benign
R5329:Camk2d UTSW 3 126597482 nonsense probably null
R5364:Camk2d UTSW 3 126780420 missense probably damaging 1.00
R5473:Camk2d UTSW 3 126597399 utr 5 prime probably benign
R5509:Camk2d UTSW 3 126840316 missense probably damaging 1.00
R5958:Camk2d UTSW 3 126779865 intron probably benign
R6010:Camk2d UTSW 3 126797714 missense possibly damaging 0.83
R6145:Camk2d UTSW 3 126805858 missense probably benign
R7267:Camk2d UTSW 3 126797730 missense possibly damaging 0.59
R7708:Camk2d UTSW 3 126597440 start codon destroyed probably benign 0.00
R8249:Camk2d UTSW 3 126797729 missense probably damaging 1.00
Posted On2016-08-02