Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:Camk2g'

268749

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20784943-20844156 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 20805775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071816] [ENSMUST00000080440] [ENSMUST00000100837] [ENSMUST00000224887] [ENSMUST00000225609] [ENSMUST00000226630]

AlphaFold

Q923T9

Predicted Effect

probably benign
Transcript: ENSMUST00000071816

SMART Domains

Protein: ENSMUSP00000071720
Gene: ENSMUSG00000021820

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000224245

Predicted Effect

probably benign
Transcript: ENSMUST00000224887

Predicted Effect

probably benign
Transcript: ENSMUST00000225463

Predicted Effect

probably benign
Transcript: ENSMUST00000225609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225958

Predicted Effect

probably benign
Transcript: ENSMUST00000226630

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Becn2	T	C	1: 175,748,197 (GRCm39)	C88R	possibly damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cep135	G	A	5: 76,772,586 (GRCm39)	G657D	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Ephx1	A	G	1: 180,817,498 (GRCm39)	I391T	probably benign	Het
Fcgbp	A	G	7: 27,800,701 (GRCm39)	Y1249C	probably damaging	Het
Gm5592	T	C	7: 40,807,052 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,629 (GRCm39)	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380 (GRCm39)	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,245,857 (GRCm39)	I130F	probably damaging	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,620,103 (GRCm39)	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,072,583 (GRCm39)	H324R	probably damaging	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,086,269 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Or14a259	A	G	7: 86,013,308 (GRCm39)	F79S	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcnt	T	A	10: 76,269,584 (GRCm39)	E228V	probably benign	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,390,265 (GRCm39)	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Thbd	A	G	2: 148,248,893 (GRCm39)	V325A	probably damaging	Het
Trpd52l3	T	A	19: 29,981,333 (GRCm39)	C29*	probably null	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Usp35	T	C	7: 96,961,827 (GRCm39)	H533R	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Zap70	C	T	1: 36,818,216 (GRCm39)	T301I	probably benign	Het
Zfp341	A	G	2: 154,466,801 (GRCm39)	K57E	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zfp786	T	C	6: 47,798,357 (GRCm39)	N194D	probably benign	Het

Other mutations in Camk2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CCCATCTACCTAAGGAGAGGAGAC -3'
(R):5'- AGACCTTCGAGATGCCCTTC -3'

Sequencing Primer
(F):5'- AGGCCAGTACAATCTGCTGTC -3'
(R):5'- TCGAGATGCCCTTCCTGCAG -3'

Posted On

2015-02-19