Incidental Mutation 'R7459:Camk2g'
ID 578347
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 045533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20784943-20844156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20829275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 73 (I73V)
Ref Sequence ENSEMBL: ENSMUSP00000098398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071816] [ENSMUST00000080440] [ENSMUST00000100837] [ENSMUST00000226630]
AlphaFold Q923T9
Predicted Effect possibly damaging
Transcript: ENSMUST00000071816
AA Change: I73V

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071720
Gene: ENSMUSG00000021820
AA Change: I73V

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 benign
Transcript: ENSMUST00000080440
AA Change: I73V

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000079298
Gene: ENSMUSG00000021820
AA Change: I73V

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 probably damaging
Transcript: ENSMUST00000100837
AA Change: I73V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098398
Gene: ENSMUSG00000021820
AA Change: I73V

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: ENSMUST00000226630
AA Change: I73V

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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 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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Carf C A 1: 60,167,198 (GRCm39) T177K possibly damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Nipa2 A T 7: 55,583,089 (GRCm39) W219R probably damaging Het
Oas2 A C 5: 120,887,775 (GRCm39) S22A unknown Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pcdhb16 A T 18: 37,612,606 (GRCm39) Y522F probably benign Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,587,564 (GRCm39) K926N probably damaging Het
Ptpre A G 7: 135,269,329 (GRCm39) N277S probably benign Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc39a8 T C 3: 135,592,672 (GRCm39) I449T probably damaging Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tet2 C T 3: 133,186,050 (GRCm39) R1129Q possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H probably damaging 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
R2380:Camk2g UTSW 14 20,789,455 (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
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'- AAGCAGCCAGGTCTCTAAAC -3'
(R):5'- AACAGGTAGTCACAAATGTGTCC -3'

Sequencing Primer
(F):5'- GGTCTCTAAACAGAGCCTTAGAATC -3'
(R):5'- GTCACAAATGTGTCCAGATTTCCTG -3'
Posted On 2019-10-07