Incidental Mutation 'R5509:Camk2d'
ID 431063
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 043070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R5509 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 126389951-126639975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126633965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 496 (W496R)
Ref Sequence ENSEMBL: ENSMUSP00000143677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066452] [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000171289] [ENSMUST00000199300] [ENSMUST00000200171] [ENSMUST00000145454]
AlphaFold Q6PHZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000066452
AA Change: W144R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066996
Gene: ENSMUSG00000053819
AA Change: W144R

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 damaging
Transcript: ENSMUST00000066466
AA Change: W476R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: W476R

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: W496R
SMART Domains Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: W496R

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 damaging
Transcript: ENSMUST00000106400
AA Change: W462R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: W462R

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 damaging
Transcript: ENSMUST00000106401
AA Change: W472R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: W472R

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 damaging
Transcript: ENSMUST00000106402
AA Change: W496R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: W496R

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 unknown
Transcript: ENSMUST00000170149
AA Change: W152R
SMART Domains Protein: ENSMUSP00000130305
Gene: ENSMUSG00000053819
AA Change: W152R

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 probably damaging
Transcript: ENSMUST00000171289
AA Change: W496R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: W496R

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: ENSMUST00000167985
SMART Domains Protein: ENSMUSP00000126207
Gene: ENSMUSG00000053819

DomainStartEndE-ValueType
Pfam:CaMKII_AD 59 130 2.2e-33 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 probably damaging
Transcript: ENSMUST00000199300
AA Change: W462R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: W462R

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: W496R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: W496R

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: 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: ENSMUST00000197660
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
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.6%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G C 17: 46,635,185 (GRCm39) Q273E probably benign Het
Acly C T 11: 100,405,805 (GRCm39) R329Q probably damaging Het
Acsm2 T C 7: 119,172,840 (GRCm39) S152P probably damaging Het
Adamtsl4 A T 3: 95,588,667 (GRCm39) I515N probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp9a T C 2: 168,481,857 (GRCm39) D879G probably damaging Het
Bmp8b G A 4: 123,008,369 (GRCm39) D112N possibly damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cflar T C 1: 58,791,551 (GRCm39) F285L probably benign Het
Cox16 T C 12: 81,519,032 (GRCm39) T176A probably benign Het
Cux1 G T 5: 136,304,171 (GRCm39) A1214D probably benign Het
Cyb5d1 C A 11: 69,284,561 (GRCm39) probably null Het
Dennd6b G A 15: 89,069,225 (GRCm39) P575S probably damaging Het
Fbxl2 A T 9: 113,814,415 (GRCm39) probably null Het
Gfpt2 T C 11: 49,717,973 (GRCm39) F483L possibly damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Invs G A 4: 48,396,337 (GRCm39) V281M probably damaging Het
Kif13a G A 13: 46,905,591 (GRCm39) A784V probably benign Het
Kmt2d T C 15: 98,737,557 (GRCm39) probably benign Het
Lmod2 A G 6: 24,603,888 (GRCm39) T288A probably damaging Het
Lrrc37a T C 11: 103,391,361 (GRCm39) K1355E probably benign Het
Magi3 A T 3: 103,922,818 (GRCm39) S1300T probably benign Het
Mdm2 A C 10: 117,526,517 (GRCm39) D307E probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mroh4 T C 15: 74,478,003 (GRCm39) Y901C probably benign Het
Mtmr14 G T 6: 113,230,768 (GRCm39) probably null Het
Mug2 A T 6: 122,061,340 (GRCm39) Q1420L possibly damaging Het
Net1 T C 13: 3,934,320 (GRCm39) Q459R probably benign Het
Nle1 T C 11: 82,794,008 (GRCm39) R343G possibly damaging Het
Npat C A 9: 53,481,542 (GRCm39) N1083K probably benign Het
Nrp1 G A 8: 129,152,396 (GRCm39) G202R possibly damaging Het
Nsun4 C T 4: 115,908,974 (GRCm39) V529I possibly damaging Het
Or4b1d T A 2: 89,969,236 (GRCm39) L82F probably damaging Het
Or4z4 T A 19: 12,076,341 (GRCm39) I221F possibly damaging Het
Or5b117 A T 19: 13,431,332 (GRCm39) L183Q probably damaging Het
Or8g21 T C 9: 38,905,924 (GRCm39) D269G probably benign Het
Podxl A T 6: 31,503,548 (GRCm39) N264K probably benign Het
Ptprm C T 17: 66,996,353 (GRCm39) A1245T probably damaging Het
Rdh12 T A 12: 79,257,558 (GRCm39) probably null Het
Ryr2 T A 13: 11,760,487 (GRCm39) Y1532F probably damaging Het
Senp2 T C 16: 21,859,272 (GRCm39) F441S probably damaging Het
Snap23 C A 2: 120,425,346 (GRCm39) P111T probably benign Het
Sox2 A G 3: 34,704,938 (GRCm39) D125G probably damaging Het
Syne2 T C 12: 75,968,018 (GRCm39) W923R probably damaging Het
Tbc1d2b T C 9: 90,101,022 (GRCm39) E656G probably damaging Het
Tbcd A G 11: 121,492,838 (GRCm39) T892A probably benign Het
Tg A G 15: 66,699,142 (GRCm39) I24V probably benign Het
Trpm3 A T 19: 22,964,622 (GRCm39) K1372N probably damaging Het
Ubc A T 5: 125,464,339 (GRCm39) N329K probably benign Het
Vmn2r106 T A 17: 20,498,684 (GRCm39) H409L probably damaging Het
Wdfy3 T A 5: 102,009,314 (GRCm39) N2751Y possibly damaging Het
Zfp518a T A 19: 40,903,845 (GRCm39) I1258K possibly damaging Het
Zfp91 T C 19: 12,756,451 (GRCm39) E131G probably damaging Het
Zfyve26 T A 12: 79,293,295 (GRCm39) R2027W 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
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
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'- GTTCTCTTTCAGCTTTGTCCAAAAG -3'
(R):5'- CATCAAGCCCAGGAGTGTTG -3'

Sequencing Primer
(F):5'- TTTGTCCAAAAGCAATAAACCAATC -3'
(R):5'- CCCAGGAGTGTTGAGAGTATC -3'
Posted On 2016-10-05