Incidental Mutation 'IGL02218:Camk2d'
ID 284998
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camk2d
Ensembl Gene ENSMUSG00000053819
Gene Name calcium/calmodulin-dependent protein kinase II, delta
Synonyms CaMK II, 8030469K03Rik, 2810011D23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # IGL02218
Quality Score
Status
Chromosome 3
Chromosomal Location 126389951-126639975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 126633802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 441 (N441K)
Ref Sequence ENSEMBL: ENSMUSP00000143677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066452] [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000171289] [ENSMUST00000200171] [ENSMUST00000199300] [ENSMUST00000145454]
AlphaFold Q6PHZ2
Predicted Effect probably benign
Transcript: ENSMUST00000066452
AA Change: N89K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066996
Gene: ENSMUSG00000053819
AA Change: N89K

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: N421K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: N421K

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: N441K
SMART Domains Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: N441K

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
AA Change: N407K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: N407K

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
AA Change: N417K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: N417K

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: N441K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: N441K

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: N441K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: N441K

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 probably benign
Transcript: ENSMUST00000200171
AA Change: N441K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: N441K

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: ENSMUST00000199300
AA Change: N407K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: N407K

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 unknown
Transcript: ENSMUST00000170149
AA Change: N97K
SMART Domains Protein: ENSMUSP00000130305
Gene: ENSMUSG00000053819
AA Change: N97K

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: ENSMUST00000167985
SMART Domains Protein: ENSMUSP00000126207
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
Pfam:CaMKII_AD 59 130 2.2e-33 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: ENSMUST00000198487
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: ENSMUST00000197660
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: ENSMUST00000129293
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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,505,838 (GRCm39) D122G probably benign Het
Abcc8 T C 7: 45,769,860 (GRCm39) D885G probably benign Het
Abcf1 T C 17: 36,269,230 (GRCm39) K676R probably benign Het
Acsf2 A G 11: 94,492,589 (GRCm39) V3A probably benign Het
Apba2 C T 7: 64,345,425 (GRCm39) T205I probably benign Het
Bricd5 C A 17: 24,694,296 (GRCm39) Y171* probably null Het
Carm1 T C 9: 21,480,808 (GRCm39) V94A probably damaging Het
Chd3 C T 11: 69,242,920 (GRCm39) probably benign Het
Cipc A G 12: 87,008,702 (GRCm39) N166S probably damaging Het
Cln5 A C 14: 103,313,276 (GRCm39) probably null Het
Cnbd1 C A 4: 18,887,739 (GRCm39) Q258H probably benign Het
Cyp8b1 A G 9: 121,744,183 (GRCm39) L383P probably damaging Het
Dnai4 A G 4: 102,953,971 (GRCm39) V76A probably damaging Het
Dok3 A G 13: 55,671,599 (GRCm39) L324P probably damaging Het
Eftud2 A T 11: 102,761,039 (GRCm39) F102Y possibly damaging Het
Ewsr1 G A 11: 5,020,668 (GRCm39) P551S unknown Het
Fam193a G T 5: 34,600,932 (GRCm39) V346L possibly damaging Het
Golim4 A G 3: 75,785,361 (GRCm39) S677P probably damaging Het
Gpr149 A G 3: 62,437,952 (GRCm39) probably benign Het
Ins1 A T 19: 52,253,121 (GRCm39) K20N probably benign Het
Itpr2 A T 6: 146,141,760 (GRCm39) probably benign Het
Jup G A 11: 100,272,665 (GRCm39) T249I probably damaging Het
Kctd20 T A 17: 29,176,877 (GRCm39) N2K probably benign Het
Kif15 A G 9: 122,824,892 (GRCm39) probably benign Het
Klrb1-ps1 T C 6: 129,106,269 (GRCm39) noncoding transcript Het
Krtap29-1 T C 11: 99,869,884 (GRCm39) probably null Het
Lamb3 A T 1: 193,010,941 (GRCm39) probably null Het
Large1 A G 8: 73,638,750 (GRCm39) W276R probably damaging Het
Lrp1b T C 2: 41,185,684 (GRCm39) N603D probably benign Het
Lrrc37a A G 11: 103,391,207 (GRCm39) V1406A probably benign Het
Lrrc74a A G 12: 86,795,822 (GRCm39) D265G probably benign Het
Lrrfip2 G A 9: 111,048,793 (GRCm39) C250Y probably benign Het
Mbtd1 A G 11: 93,822,629 (GRCm39) probably benign Het
Msr1 A G 8: 40,042,357 (GRCm39) V406A possibly damaging Het
Mtfr1l C T 4: 134,256,491 (GRCm39) D225N probably benign Het
Nckap1l T A 15: 103,391,954 (GRCm39) S796R possibly damaging Het
Oaf T A 9: 43,136,219 (GRCm39) H119L probably benign Het
Or4d1 A T 11: 87,804,889 (GRCm39) M281K probably damaging Het
Pik3c2g A T 6: 139,806,081 (GRCm39) H516L probably damaging Het
Pkd1l3 A T 8: 110,387,434 (GRCm39) I1793F possibly damaging Het
Ptpra A G 2: 130,394,255 (GRCm39) probably benign Het
Slc25a27 C T 17: 43,974,964 (GRCm39) probably null Het
Slc2a2 A T 3: 28,752,174 (GRCm39) E3D possibly damaging Het
Slc35f5 T C 1: 125,512,292 (GRCm39) F14S probably damaging Het
Sspn T C 6: 145,907,112 (GRCm39) V105A probably damaging Het
Syvn1 T C 19: 6,100,229 (GRCm39) I263T probably damaging Het
Tek A C 4: 94,743,574 (GRCm39) D863A probably damaging Het
Tent5b C T 4: 133,213,462 (GRCm39) A111V probably damaging Het
Tm9sf4 G T 2: 153,046,536 (GRCm39) V592F probably benign Het
Tmem259 A G 10: 79,814,151 (GRCm39) M354T possibly damaging Het
Ttf2 T C 3: 100,871,409 (GRCm39) E84G possibly damaging Het
Ttyh3 T C 5: 140,612,246 (GRCm39) E487G probably damaging Het
Ubtf C A 11: 102,197,526 (GRCm39) E709* probably null Het
Vmn1r119 T C 7: 20,745,561 (GRCm39) R274G probably benign Het
Zfp804a A G 2: 82,089,546 (GRCm39) Q1125R 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
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
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
Posted On 2015-04-16