Incidental Mutation 'R4455:Camk2d'
ID 329127
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 041715-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R4455 (G1)
Quality Score 211
Status Validated
Chromosome 3
Chromosomal Location 126389951-126639975 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126574052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 153 (V153A)
Ref Sequence ENSEMBL: ENSMUSP00000143677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000163226] [ENSMUST00000171289] [ENSMUST00000199300] [ENSMUST00000200171] [ENSMUST00000145454] [ENSMUST00000134466]
AlphaFold Q6PHZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000066466
AA Change: V153A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: V153A

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: V153A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: V153A

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: V153A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: V153A

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: V153A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: V153A

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: V153A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: V153A

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: ENSMUST00000134987
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: V153A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819
AA Change: V153A

DomainStartEndE-ValueType
S_TKc 14 272 9.91e-110 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171289
AA Change: V153A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: V153A

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: ENSMUST00000199300
AA Change: V153A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: V153A

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: V153A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: V153A

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: ENSMUST00000171950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147043
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
Meta Mutation Damage Score 0.9054 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (61/61)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,274,395 (GRCm39) H166R possibly damaging Het
Aktip T C 8: 91,851,479 (GRCm39) E248G probably benign Het
Ankk1 A G 9: 49,329,366 (GRCm39) V336A probably benign Het
Aoc1 T A 6: 48,882,401 (GRCm39) D92E probably damaging Het
Aoc1l3 A T 6: 48,964,394 (GRCm39) N134I possibly damaging Het
Arfgef2 T C 2: 166,736,635 (GRCm39) I1769T probably benign Het
Arfgef3 A T 10: 18,483,423 (GRCm39) S1434T probably benign Het
Baz1a C A 12: 54,958,153 (GRCm39) V1033L probably benign Het
Bbs12 T C 3: 37,374,461 (GRCm39) V418A probably damaging Het
Cacnb4 A G 2: 52,355,665 (GRCm39) V214A probably damaging Het
Calhm6 A T 10: 34,002,531 (GRCm39) I184N probably damaging Het
Ccdc18 C T 5: 108,309,395 (GRCm39) S330L possibly damaging Het
Cdh11 T C 8: 103,374,455 (GRCm39) D500G probably benign Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Clca4a G A 3: 144,663,020 (GRCm39) P610S probably damaging Het
Dctn1 T C 6: 83,172,031 (GRCm39) L807P probably damaging Het
Dop1b T C 16: 93,563,103 (GRCm39) L869P probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Grb10 T G 11: 11,917,665 (GRCm39) Q72P possibly damaging Het
H3f3a G T 1: 180,630,668 (GRCm39) R129S probably benign Het
Hfm1 T C 5: 107,034,374 (GRCm39) probably null Het
Kansl1 T C 11: 104,315,184 (GRCm39) T285A possibly damaging Het
Krtap16-1 A T 11: 99,876,559 (GRCm39) C282S probably benign Het
Magi1 A G 6: 93,762,438 (GRCm39) V89A probably damaging Het
Mllt1 A G 17: 57,226,965 (GRCm39) Y71H probably damaging Het
Ms4a14 T A 19: 11,280,990 (GRCm39) T523S possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Muc5b T C 7: 141,412,555 (GRCm39) S1834P unknown Het
Necap1 C T 6: 122,864,328 (GRCm39) S270F possibly damaging Het
Piwil2 T C 14: 70,628,014 (GRCm39) M752V probably benign Het
Prune1 G A 3: 95,189,207 (GRCm39) probably null Het
Ptpro A G 6: 137,370,657 (GRCm39) E586G probably damaging Het
Rela T A 19: 5,697,290 (GRCm39) I499K probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Scara5 T A 14: 66,000,196 (GRCm39) D455E probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Sntb2 G A 8: 107,718,239 (GRCm39) probably null Het
Sspo C T 6: 48,442,450 (GRCm39) R1982C probably damaging Het
Tsen34 G A 7: 3,698,097 (GRCm39) probably null Het
Ttc28 AC A 5: 111,371,924 (GRCm39) probably null Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utp18 G A 11: 93,776,273 (GRCm39) R71C probably benign Het
Xrn1 T A 9: 95,855,698 (GRCm39) probably benign Het
Yeats2 A G 16: 19,980,743 (GRCm39) K187R possibly 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
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'- AGACAACAGTGCATGAGTTTG -3'
(R):5'- AGATGTTGCTAGAGTCCCCTTC -3'

Sequencing Primer
(F):5'- ACAACAGTGCATGAGTTTGCTTCC -3'
(R):5'- AGAGTCCCCTTCCTGTGTGG -3'
Posted On 2015-07-21