Incidental Mutation 'R7257:Camk2g'
ID 564365
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 045318-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7257 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 20784943-20844156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20797907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 335 (S335G)
Ref Sequence ENSEMBL: ENSMUSP00000071720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071816] [ENSMUST00000080440] [ENSMUST00000100837] [ENSMUST00000224887] [ENSMUST00000225609] [ENSMUST00000226630]
AlphaFold Q923T9
Predicted Effect probably benign
Transcript: ENSMUST00000071816
AA Change: S335G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000071720
Gene: ENSMUSG00000021820
AA Change: S335G

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
SMART Domains Protein: ENSMUSP00000079298
Gene: ENSMUSG00000021820

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 benign
Transcript: ENSMUST00000100837
SMART Domains Protein: ENSMUSP00000098398
Gene: ENSMUSG00000021820

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: ENSMUST00000223712
Predicted Effect probably benign
Transcript: ENSMUST00000224887
Predicted Effect probably benign
Transcript: ENSMUST00000225463
Predicted Effect probably benign
Transcript: ENSMUST00000225609
AA Change: S162G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226630
AA Change: S333G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,816,434 (GRCm39) V120E probably benign Het
Acot11 G A 4: 106,615,599 (GRCm39) T284M probably damaging Het
Adk G T 14: 21,102,739 (GRCm39) K11N probably damaging Het
Akr1c14 T A 13: 4,138,966 (GRCm39) N316K probably benign Het
AL732309.1 A T 2: 25,135,851 (GRCm39) V121D probably benign Het
Amh C A 10: 80,642,487 (GRCm39) Q257K probably benign Het
Antxrl T G 14: 33,787,806 (GRCm39) H276Q probably benign Het
Atp5po G A 16: 91,723,755 (GRCm39) T105M probably damaging Het
Atxn2 T G 5: 121,923,880 (GRCm39) N734K possibly damaging Het
B3gat3 T A 19: 8,903,102 (GRCm39) V153D probably benign Het
Brd2 A G 17: 34,332,796 (GRCm39) V528A probably damaging Het
Cbln2 T A 18: 86,734,859 (GRCm39) W211R probably damaging Het
Cry2 A T 2: 92,243,326 (GRCm39) I505N possibly damaging Het
Ddx55 T A 5: 124,698,784 (GRCm39) C249S possibly damaging Het
Dglucy A G 12: 100,808,997 (GRCm39) T232A probably damaging Het
Dhx32 A G 7: 133,361,206 (GRCm39) Y76H probably benign Het
Dmac2l T C 12: 69,788,443 (GRCm39) I114T probably damaging Het
Dock7 T A 4: 98,861,649 (GRCm39) N1356I unknown Het
Dock8 T A 19: 25,104,449 (GRCm39) N710K probably benign Het
Dync1i2 T A 2: 71,079,700 (GRCm39) N391K possibly damaging Het
Ect2 A G 3: 27,192,684 (GRCm39) S420P probably damaging Het
Efcab5 T A 11: 77,028,605 (GRCm39) E242V probably damaging Het
Fam83g T A 11: 61,575,579 (GRCm39) Y74N probably damaging Het
Fbxo34 T A 14: 47,738,329 (GRCm39) probably null Het
Flt4 A G 11: 49,516,836 (GRCm39) T208A probably benign Het
Fxyd5 T A 7: 30,734,576 (GRCm39) H183L unknown Het
Gpr150 T G 13: 76,204,585 (GRCm39) D120A probably benign Het
Grm7 A G 6: 110,623,079 (GRCm39) Y84C probably damaging Het
Ighmbp2 A G 19: 3,316,405 (GRCm39) S562P probably damaging Het
Itga7 A G 10: 128,780,282 (GRCm39) Y530C possibly damaging Het
Itpr3 T A 17: 27,337,535 (GRCm39) D2448E probably benign Het
Mmp17 C A 5: 129,672,697 (GRCm39) H216Q probably benign Het
Mns1 C T 9: 72,360,097 (GRCm39) R416W probably damaging Het
Mog A G 17: 37,334,019 (GRCm39) S25P unknown Het
Myh2 A G 11: 67,071,976 (GRCm39) K568R possibly damaging Het
Myh7 A T 14: 55,209,947 (GRCm39) probably null Het
Mymk A T 2: 26,957,380 (GRCm39) W79R probably damaging Het
Ncoa4 T G 14: 31,899,326 (GRCm39) L623R probably damaging Het
Oca2 G A 7: 55,929,286 (GRCm39) probably benign Het
Odam A C 5: 88,035,404 (GRCm39) S123R probably benign Het
Or14c39 T A 7: 86,344,012 (GRCm39) M116K probably damaging Het
Or2w1 A G 13: 21,317,427 (GRCm39) T161A probably benign Het
Or51f1d T C 7: 102,700,837 (GRCm39) F111L probably benign Het
Or5d16 A G 2: 87,773,915 (GRCm39) F19S probably damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or6c8b C T 10: 128,882,324 (GRCm39) V203M probably benign Het
Ovch2 C T 7: 107,393,640 (GRCm39) C162Y probably damaging Het
Padi1 C A 4: 140,556,782 (GRCm39) G142C probably damaging Het
Pcdhga4 A G 18: 37,820,451 (GRCm39) I667V probably damaging Het
Pfas A T 11: 68,883,785 (GRCm39) V624E probably damaging Het
Phb1 A T 11: 95,568,917 (GRCm39) E184V probably damaging Het
Phlpp2 G T 8: 110,666,820 (GRCm39) M1116I probably benign Het
Pip5kl1 T C 2: 32,470,443 (GRCm39) probably null Het
Pitpnm2 T A 5: 124,263,419 (GRCm39) I824F possibly damaging Het
Pla2g4c G A 7: 13,059,669 (GRCm39) S2N possibly damaging Het
Pla2r1 A T 2: 60,257,969 (GRCm39) probably null Het
Pole2 T C 12: 69,249,684 (GRCm39) D521G probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rapgef2 A T 3: 78,989,934 (GRCm39) L931Q probably damaging Het
Rassf3 G A 10: 121,248,924 (GRCm39) Q206* probably null Het
Rnf123 T A 9: 107,946,228 (GRCm39) T316S probably damaging Het
Rnf138 T A 18: 21,141,750 (GRCm39) probably null Het
Septin3 G A 15: 82,173,414 (GRCm39) A249T probably damaging Het
Slc35a4 A T 18: 36,812,669 (GRCm39) D3V unknown Het
Sltm T A 9: 70,451,247 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Tcl1b1 A T 12: 105,130,790 (GRCm39) D91V probably damaging Het
Tirap A T 9: 35,100,330 (GRCm39) V118E probably damaging Het
Tlr5 T A 1: 182,801,798 (GRCm39) Y367* probably null Het
Tmcc1 A G 6: 116,084,299 (GRCm39) F5L probably benign Het
Tnxb A G 17: 34,935,475 (GRCm39) M2592V probably benign Het
Trim66 T A 7: 109,059,451 (GRCm39) E931V probably damaging Het
Ttn A G 2: 76,571,438 (GRCm39) I26485T probably damaging Het
Veph1 C A 3: 66,065,703 (GRCm39) V455L probably benign Het
Vmn1r125 A T 7: 21,006,750 (GRCm39) H216L probably damaging Het
Wdr17 T A 8: 55,085,522 (GRCm39) E1200D probably benign Het
Zbtb37 T A 1: 160,860,231 (GRCm39) N25Y 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
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'- ACTGGTGACCTTGGGCAATG -3'
(R):5'- AACCCCTTTAATGCTGGACTCC -3'

Sequencing Primer
(F):5'- CATGCAGTGAGGATGAGT -3'
(R):5'- TAATGCTGGACTCCGGGTTGC -3'
Posted On 2019-06-26