Incidental Mutation 'R2437:Camk2d'
ID 249638
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 040398-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R2437 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 126389951-126639975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126628277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 53 (N53S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066452] [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000171289] [ENSMUST00000199300] [ENSMUST00000200171] [ENSMUST00000145454]
AlphaFold Q6PHZ2
Predicted Effect probably benign
Transcript: ENSMUST00000066452
AA Change: N45S

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000066996
Gene: ENSMUSG00000053819
AA Change: N45S

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: N377S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: N377S

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 benign
Transcript: ENSMUST00000106399
AA Change: N397S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: N397S

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: N363S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: N363S

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: N373S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: N373S

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: N397S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: N397S

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 probably benign
Transcript: ENSMUST00000171289
AA Change: N397S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: N397S

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 damaging
Transcript: ENSMUST00000170149
AA Change: N53S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130305
Gene: ENSMUSG00000053819
AA Change: N53S

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

DomainStartEndE-ValueType
Pfam:CaMKII_AD 59 130 2.2e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197660
Predicted Effect probably benign
Transcript: ENSMUST00000199300
AA Change: N363S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: N363S

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: ENSMUST00000200171
AA Change: N397S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: N397S

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: ENSMUST00000198487
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
Meta Mutation Damage Score 0.0938 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,031,075 (GRCm39) *635W probably null Het
Anxa2 A G 9: 69,397,046 (GRCm39) Y317C probably damaging Het
Arhgef26 T C 3: 62,340,002 (GRCm39) S675P probably damaging Het
Bltp1 T A 3: 37,012,834 (GRCm39) probably null Het
Carns1 A T 19: 4,215,782 (GRCm39) M800K possibly damaging Het
Ces1f A T 8: 93,996,767 (GRCm39) probably null Het
Chrne T A 11: 70,506,086 (GRCm39) D426V possibly damaging Het
Cntfr T C 4: 41,671,035 (GRCm39) T43A probably damaging Het
Cntn5 A T 9: 10,048,758 (GRCm39) C63* probably null Het
Col12a1 G A 9: 79,599,501 (GRCm39) T884I probably damaging Het
Dnah5 T C 15: 28,307,537 (GRCm39) probably null Het
Dnajc2 A T 5: 21,965,389 (GRCm39) S537R probably benign Het
Dnajc25 T C 4: 59,020,234 (GRCm39) I100T probably damaging Het
Ephx1 C A 1: 180,823,661 (GRCm39) G149C probably damaging Het
Fam163b G T 2: 27,002,698 (GRCm39) P100T probably damaging Het
Fbxl9 A G 8: 106,039,675 (GRCm39) probably null Het
Fgd5 A T 6: 92,039,850 (GRCm39) R1017* probably null Het
Fibin A T 2: 110,192,848 (GRCm39) L98Q probably damaging Het
Fndc3b A T 3: 27,505,481 (GRCm39) L929H probably damaging Het
Frem1 T A 4: 82,918,410 (GRCm39) S512C probably damaging Het
Gm4922 T A 10: 18,659,829 (GRCm39) M298L probably benign Het
Gstm2 G A 3: 107,891,369 (GRCm39) probably benign Het
Gtf3c2 A G 5: 31,317,042 (GRCm39) probably null Het
Ibtk A C 9: 85,590,178 (GRCm39) L1026V probably benign Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Inpp4a T C 1: 37,432,037 (GRCm39) S146P probably damaging Het
Kcnab1 G T 3: 65,264,435 (GRCm39) probably benign Het
Mgat4c T C 10: 102,224,436 (GRCm39) S217P probably damaging Het
Mr1 T C 1: 155,008,277 (GRCm39) M233V probably benign Het
Ncoa2 G A 1: 13,218,584 (GRCm39) T1415I probably damaging Het
Oasl2 G A 5: 115,049,357 (GRCm39) D486N probably benign Het
Or1j14 A T 2: 36,418,258 (GRCm39) Y278F probably damaging Het
Or9a7 G A 6: 40,521,856 (GRCm39) T19I probably benign Het
Or9s27 T C 1: 92,516,688 (GRCm39) I212T possibly damaging Het
Pcnx4 T C 12: 72,588,587 (GRCm39) F132L probably damaging Het
Pde5a T A 3: 122,636,702 (GRCm39) L717Q probably damaging Het
Peli2 A T 14: 48,465,389 (GRCm39) probably benign Het
Phf14 A G 6: 11,962,657 (GRCm39) S435G probably damaging Het
Plekhg1 T A 10: 3,913,564 (GRCm39) H1095Q probably damaging Het
Plekhh2 A G 17: 84,893,907 (GRCm39) probably null Het
Plekho1 T G 3: 95,899,497 (GRCm39) N99H probably damaging Het
Plxnc1 T A 10: 94,742,395 (GRCm39) K457N probably benign Het
Ppp1r3a T C 6: 14,718,322 (GRCm39) E864G probably benign Het
Prkab2 T A 3: 97,574,715 (GRCm39) L237Q probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptger3 T A 3: 157,273,207 (GRCm39) C185S probably damaging Het
Ptprk T C 10: 28,230,709 (GRCm39) Y267H probably damaging Het
Pum2 A G 12: 8,794,654 (GRCm39) I715V probably benign Het
R3hdm1 T C 1: 128,114,573 (GRCm39) V518A probably damaging Het
Rab3d T C 9: 21,827,147 (GRCm39) I28V probably damaging Het
Rad54b T C 4: 11,606,272 (GRCm39) L560P probably damaging Het
Rgs20 A G 1: 5,140,370 (GRCm39) probably null Het
Sesn1 T A 10: 41,781,315 (GRCm39) L460H probably damaging Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Slco6c1 T A 1: 96,990,201 (GRCm39) H663L probably benign Het
Snx13 T A 12: 35,132,926 (GRCm39) C63S probably benign Het
Spmip4 T A 6: 50,560,959 (GRCm39) D212V probably damaging Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Syncrip A G 9: 88,361,620 (GRCm39) probably benign Het
Taf15 A G 11: 83,395,579 (GRCm39) probably benign Het
Tbc1d8 T C 1: 39,444,368 (GRCm39) probably null Het
Tgm4 T A 9: 122,877,614 (GRCm39) C205* probably null Het
Tmem212 A T 3: 27,940,628 (GRCm39) L63Q possibly damaging Het
Tmem63a G A 1: 180,790,054 (GRCm39) probably null Het
Trpm5 C A 7: 142,636,298 (GRCm39) V525L probably benign Het
Ttn A G 2: 76,537,171 (GRCm39) L34919P probably damaging Het
Ttn T C 2: 76,694,619 (GRCm39) probably benign Het
Tuba4a T C 1: 75,194,069 (GRCm39) I4V possibly damaging Het
Ubr4 A G 4: 139,200,853 (GRCm39) D4679G possibly damaging Het
Usp2 T G 9: 44,003,445 (GRCm39) V448G probably damaging Het
Usp3 A G 9: 66,453,024 (GRCm39) probably null Het
Zfp341 T A 2: 154,470,721 (GRCm39) V246E 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
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
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'- TTTTGCTCCAGGAGAGGTGC -3'
(R):5'- CAGAGGTTGAGTCATCTCTCTG -3'

Sequencing Primer
(F):5'- AGGTGCCTCCTCTGATACCTG -3'
(R):5'- GAGGTTGAGTCATCTCTCTGAAATC -3'
Posted On 2014-11-12