Incidental Mutation 'R2380:Camk2g'
ID 248444
Institutional Source Beutler Lab
Gene Symbol Camk2g
Ensembl Gene ENSMUSG00000021820
Gene Name calcium/calmodulin-dependent protein kinase II gamma
Synonyms Ca2+/calmodulin-dependent protein kinase II, 5930429P18Rik, CaMK II, Camkg
MMRRC Submission 040356-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2380 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 20784943-20844156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20789455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 205 (I205T)
Ref Sequence ENSEMBL: ENSMUSP00000152903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071816] [ENSMUST00000080440] [ENSMUST00000100837] [ENSMUST00000223679] [ENSMUST00000223863] [ENSMUST00000224887] [ENSMUST00000225609] [ENSMUST00000225328] [ENSMUST00000226630]
AlphaFold Q923T9
Predicted Effect probably damaging
Transcript: ENSMUST00000071816
AA Change: I401T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071720
Gene: ENSMUSG00000021820
AA Change: I401T

DomainStartEndE-ValueType
S_TKc 14 272 6.15e-106 SMART
low complexity region 323 338 N/A INTRINSIC
Pfam:CaMKII_AD 397 524 2.7e-62 PFAM
Pfam:DUF4440 401 514 3.9e-12 PFAM
Pfam:SnoaL_3 401 526 4.6e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080440
AA Change: I390T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079298
Gene: ENSMUSG00000021820
AA Change: I390T

DomainStartEndE-ValueType
S_TKc 14 272 6.15e-106 SMART
Pfam:CaMKII_AD 386 513 3.7e-63 PFAM
Pfam:DUF4440 390 504 3.2e-14 PFAM
Pfam:SnoaL_3 390 515 4.1e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100837
AA Change: I367T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098398
Gene: ENSMUSG00000021820
AA Change: I367T

DomainStartEndE-ValueType
S_TKc 14 272 6.15e-106 SMART
Pfam:CaMKII_AD 363 490 3.8e-63 PFAM
Pfam:DUF4440 367 481 3.6e-14 PFAM
Pfam:SnoaL_3 367 492 4.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223679
Predicted Effect unknown
Transcript: ENSMUST00000223712
AA Change: I210T
Predicted Effect probably damaging
Transcript: ENSMUST00000223863
AA Change: I4T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000224887
AA Change: I179T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000225609
AA Change: I205T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225660
Predicted Effect probably benign
Transcript: ENSMUST00000225463
Predicted Effect probably benign
Transcript: ENSMUST00000225328
Predicted Effect probably damaging
Transcript: ENSMUST00000226630
AA Change: I437T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.5663 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is one of the four subunits of an enzyme which 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 gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit female infertility and decreased sensitivity of macrophages to ER stress-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,949,036 (GRCm39) S978P possibly damaging Het
Ago3 G A 4: 126,262,315 (GRCm39) R412C probably damaging Het
Ampd3 C T 7: 110,399,917 (GRCm39) T344M probably damaging Het
Arl10 G T 13: 54,722,962 (GRCm39) V19L probably benign Het
Aspm C T 1: 139,407,086 (GRCm39) A1991V probably damaging Het
Axdnd1 A T 1: 156,193,221 (GRCm39) D655E probably benign Het
Bdp1 T C 13: 100,196,878 (GRCm39) H1169R probably benign Het
Cacna1s T C 1: 136,023,586 (GRCm39) F942L probably damaging Het
Cdh5 C A 8: 104,852,304 (GRCm39) H140N possibly damaging Het
Cog8 C A 8: 107,782,993 (GRCm39) G99W probably damaging Het
Csmd1 A G 8: 16,240,101 (GRCm39) C1104R probably damaging Het
Dhrs7c G A 11: 67,706,690 (GRCm39) V283M probably benign Het
Emilin2 T A 17: 71,617,219 (GRCm39) Q64L probably benign Het
Enpp3 T C 10: 24,652,770 (GRCm39) E729G probably benign Het
Fam169a T A 13: 97,255,043 (GRCm39) probably benign Het
Gvin-ps3 T C 7: 105,681,374 (GRCm39) E627G possibly damaging Het
Hmcn1 T A 1: 150,441,135 (GRCm39) M5374L probably benign Het
Hsd17b1 A T 11: 100,969,289 (GRCm39) I8F probably damaging Het
Itgae A G 11: 73,036,395 (GRCm39) E1111G probably benign Het
Kcmf1 A G 6: 72,835,755 (GRCm39) probably null Het
Kdm1b T A 13: 47,227,231 (GRCm39) F574L probably damaging Het
Lgr4 T C 2: 109,842,738 (GRCm39) Y908H probably damaging Het
Lig1 T C 7: 13,037,722 (GRCm39) probably benign Het
Ltbp3 C A 19: 5,801,551 (GRCm39) C698* probably null Het
Ncor2 A G 5: 125,113,144 (GRCm39) V1216A possibly damaging Het
Or52e3 A T 7: 102,869,815 (GRCm39) T297S possibly damaging Het
Or5b109 T C 19: 13,212,085 (GRCm39) V157A probably benign Het
Or5l13 T C 2: 87,779,741 (GRCm39) T279A probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp5c A G 7: 16,740,040 (GRCm39) Y434H probably damaging Het
Pwwp2b A G 7: 138,835,366 (GRCm39) E269G probably damaging Het
Rgs3 A T 4: 62,544,124 (GRCm39) T299S probably benign Het
Skint5 G A 4: 113,403,733 (GRCm39) T1163I unknown Het
Slc35f4 A G 14: 49,543,660 (GRCm39) probably null Het
Smr2l T G 5: 88,430,413 (GRCm39) M103R probably benign Het
Trmt5 A G 12: 73,331,888 (GRCm39) I4T probably benign Het
Ttc7b A G 12: 100,321,260 (GRCm39) probably null Het
Utp6 A G 11: 79,826,831 (GRCm39) S582P possibly damaging Het
Zbtb41 T C 1: 139,351,552 (GRCm39) S222P probably damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign Het
Other mutations in Camk2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00819:Camk2g APN 14 20,787,398 (GRCm39) missense probably damaging 0.99
IGL00822:Camk2g APN 14 20,787,398 (GRCm39) missense probably damaging 0.99
IGL00932:Camk2g APN 14 20,787,398 (GRCm39) missense probably damaging 0.99
IGL00934:Camk2g APN 14 20,787,398 (GRCm39) missense probably damaging 0.99
IGL00935:Camk2g APN 14 20,787,398 (GRCm39) missense probably damaging 0.99
IGL00938:Camk2g APN 14 20,787,398 (GRCm39) missense probably damaging 0.99
IGL01151:Camk2g APN 14 20,816,027 (GRCm39) missense probably damaging 1.00
IGL01578:Camk2g APN 14 20,797,922 (GRCm39) splice site probably benign
IGL02749:Camk2g APN 14 20,816,084 (GRCm39) critical splice acceptor site probably null
changchun UTSW 14 20,792,776 (GRCm39) nonsense probably null
Jilin UTSW 14 20,816,280 (GRCm39) nonsense probably null
jingyuetan UTSW 14 20,843,999 (GRCm39) missense possibly damaging 0.57
Manchuria UTSW 14 20,815,017 (GRCm39) missense probably damaging 1.00
F5770:Camk2g UTSW 14 20,789,380 (GRCm39) splice site probably benign
R0047:Camk2g UTSW 14 20,821,136 (GRCm39) splice site probably benign
R0761:Camk2g UTSW 14 20,816,280 (GRCm39) nonsense probably null
R0783:Camk2g UTSW 14 20,794,704 (GRCm39) missense possibly damaging 0.56
R2239:Camk2g UTSW 14 20,789,455 (GRCm39) missense probably damaging 1.00
R2240:Camk2g UTSW 14 20,815,514 (GRCm39) missense probably damaging 1.00
R3623:Camk2g UTSW 14 20,805,775 (GRCm39) splice site probably benign
R3842:Camk2g UTSW 14 20,814,966 (GRCm39) missense probably damaging 0.99
R4909:Camk2g UTSW 14 20,842,652 (GRCm39) missense probably benign 0.29
R5329:Camk2g UTSW 14 20,843,999 (GRCm39) missense possibly damaging 0.57
R5613:Camk2g UTSW 14 20,787,559 (GRCm39) missense probably damaging 0.98
R5763:Camk2g UTSW 14 20,789,415 (GRCm39) missense probably damaging 1.00
R6294:Camk2g UTSW 14 20,815,017 (GRCm39) missense probably damaging 1.00
R6345:Camk2g UTSW 14 20,787,443 (GRCm39) missense probably damaging 1.00
R6698:Camk2g UTSW 14 20,792,776 (GRCm39) nonsense probably null
R7010:Camk2g UTSW 14 20,791,512 (GRCm39) missense probably benign
R7187:Camk2g UTSW 14 20,792,780 (GRCm39) missense probably benign
R7257:Camk2g UTSW 14 20,797,907 (GRCm39) missense probably benign 0.01
R7459:Camk2g UTSW 14 20,829,275 (GRCm39) missense probably damaging 0.97
R7655:Camk2g UTSW 14 20,789,410 (GRCm39) missense possibly damaging 0.69
R7656:Camk2g UTSW 14 20,789,410 (GRCm39) missense possibly damaging 0.69
R8863:Camk2g UTSW 14 20,810,244 (GRCm39) missense probably damaging 1.00
R9764:Camk2g UTSW 14 20,815,498 (GRCm39) missense probably damaging 0.99
Z1176:Camk2g UTSW 14 20,814,980 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGGGTTTGATTCAGGCAGG -3'
(R):5'- GGAGGCAGTCCTTAACTCTTCAG -3'

Sequencing Primer
(F):5'- GGATTAAGGTCCAGACTACACTTGC -3'
(R):5'- CTTAACTCTTCAGATGCCAAAGAGGG -3'
Posted On 2014-11-11