Incidental Mutation 'IGL02184:Camk2d'
ID 284275
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 # IGL02184
Quality Score
Status
Chromosome 3
Chromosomal Location 126389951-126639975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126591422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 297 (R297S)
Ref Sequence ENSEMBL: ENSMUSP00000102007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000163226] [ENSMUST00000171289] [ENSMUST00000199300] [ENSMUST00000200171] [ENSMUST00000145454] [ENSMUST00000134466]
AlphaFold Q6PHZ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000066466
AA Change: R297S

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: R297S

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 damaging
Transcript: ENSMUST00000106399
AA Change: R297S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: R297S

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 possibly damaging
Transcript: ENSMUST00000106400
AA Change: R297S

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: R297S

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 possibly damaging
Transcript: ENSMUST00000106401
AA Change: R297S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: R297S

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 possibly damaging
Transcript: ENSMUST00000106402
AA Change: R297S

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: R297S

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 possibly damaging
Transcript: ENSMUST00000163226
AA Change: R297S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819
AA Change: R297S

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171289
AA Change: R297S

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: R297S

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 possibly damaging
Transcript: ENSMUST00000199300
AA Change: R297S

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: R297S

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 damaging
Transcript: ENSMUST00000200171
AA Change: R297S

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: R297S

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: 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: ENSMUST00000198487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147043
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197660
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 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: 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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 C T 3: 89,253,241 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Aopep T G 13: 63,215,925 (GRCm39) I399S possibly damaging Het
Atp8b3 A C 10: 80,363,067 (GRCm39) probably benign Het
Brwd1 A T 16: 95,815,029 (GRCm39) M1417K probably damaging Het
Cntnap1 A T 11: 101,069,191 (GRCm39) H215L probably damaging Het
Cytip T C 2: 58,023,750 (GRCm39) S357G probably damaging Het
Eif1ad15 T C 12: 88,287,951 (GRCm39) R101G probably benign Het
Fancg A G 4: 43,006,872 (GRCm39) Y273H possibly damaging Het
Fbxo36 A G 1: 84,858,885 (GRCm39) S57G probably benign Het
Fgf8 A T 19: 45,725,655 (GRCm39) L141Q probably damaging Het
Grm5 C T 7: 87,675,650 (GRCm39) T388M probably damaging Het
Hipk1 A G 3: 103,666,066 (GRCm39) L589P possibly damaging Het
Kiz T C 2: 146,731,520 (GRCm39) S337P probably benign Het
Lrrc37a A T 11: 103,388,435 (GRCm39) I2330K unknown Het
Mdfic T A 6: 15,770,366 (GRCm39) I124K possibly damaging Het
Mdfic2 T C 6: 98,225,059 (GRCm39) S75G possibly damaging Het
Mttp A G 3: 137,821,761 (GRCm39) probably null Het
Myom1 G A 17: 71,379,132 (GRCm39) S632N possibly damaging Het
Nlrp12 T C 7: 3,289,094 (GRCm39) K473E probably damaging Het
Nrp2 C A 1: 62,758,099 (GRCm39) C28* probably null Het
Nwd2 G T 5: 63,963,020 (GRCm39) G868V probably damaging Het
Or4a73 G A 2: 89,420,637 (GRCm39) T274I probably damaging Het
Or4c58 G A 2: 89,674,729 (GRCm39) A196V probably damaging Het
Or5w1 A G 2: 87,487,136 (GRCm39) L43P probably damaging Het
Pappa A T 4: 65,258,928 (GRCm39) M1559L possibly damaging Het
Pmm2 T A 16: 8,455,668 (GRCm39) D10E possibly damaging Het
Polm T C 11: 5,780,137 (GRCm39) Q300R probably benign Het
Prrc2b T A 2: 32,111,467 (GRCm39) N1208K probably benign Het
Serpinb3c T C 1: 107,199,648 (GRCm39) D291G probably damaging Het
Skic3 A G 13: 76,259,810 (GRCm39) K37E probably damaging Het
Slc1a2 T C 2: 102,578,889 (GRCm39) F268S probably damaging Het
Slc26a4 A G 12: 31,599,948 (GRCm39) Y127H probably damaging Het
Slc29a4 A G 5: 142,703,506 (GRCm39) Y260C probably damaging Het
Sorbs3 C T 14: 70,421,455 (GRCm39) probably null Het
Spen T C 4: 141,214,917 (GRCm39) Y534C unknown Het
Tmem237 T C 1: 59,159,270 (GRCm39) probably null Het
Tnfrsf21 A T 17: 43,396,354 (GRCm39) N546I probably benign Het
Tpgs2 T A 18: 25,273,630 (GRCm39) D177V probably damaging Het
Tpx2 C T 2: 152,724,240 (GRCm39) R339* probably null Het
Trim12c T C 7: 103,997,430 (GRCm39) Y42C probably benign Het
Trip10 A T 17: 57,564,272 (GRCm39) E341V probably damaging Het
Trpm8 A T 1: 88,258,416 (GRCm39) probably null Het
Ubr1 T A 2: 120,730,989 (GRCm39) I1221F probably benign Het
Ucp2 C T 7: 100,148,529 (GRCm39) A301V probably benign Het
Zfyve1 T C 12: 83,605,467 (GRCm39) I411V probably benign 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
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
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