Mutagenetix > Incidental Mutation

Incidental Mutation 'F5770:Camk2g'

178024

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 #

F5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20784943-20844156 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 20789380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071816] [ENSMUST00000080440] [ENSMUST00000100837] [ENSMUST00000223679] [ENSMUST00000223863] [ENSMUST00000224887] [ENSMUST00000225328] [ENSMUST00000226630] [ENSMUST00000225609]

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: ENSMUST00000223679

Predicted Effect

probably benign
Transcript: ENSMUST00000223712

Predicted Effect

probably benign
Transcript: ENSMUST00000223863

Predicted Effect

probably benign
Transcript: ENSMUST00000224887

Predicted Effect

probably benign
Transcript: ENSMUST00000225328

Predicted Effect

probably benign
Transcript: ENSMUST00000226630

Predicted Effect

probably benign
Transcript: ENSMUST00000225609

Predicted Effect

probably benign
Transcript: ENSMUST00000225463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225660

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,849,914 (GRCm39)	M950L	probably benign	Het
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Arhgef38	T	G	3: 132,855,301 (GRCm39)	H262P	probably damaging	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm39)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 18,025,526 (GRCm39)		probably null	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
Cfi	T	A	3: 129,648,641 (GRCm39)	I175K	possibly damaging	Het
Clasp1	G	A	1: 118,509,078 (GRCm39)	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,584,475 (GRCm39)		probably null	Het
Dnah12	T	A	14: 26,495,050 (GRCm39)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gdap1l1	C	T	2: 163,289,406 (GRCm39)		probably benign	Het
Glrx3	A	G	7: 137,060,882 (GRCm39)	H172R	probably benign	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Gm20517	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Golga4	A	G	9: 118,385,143 (GRCm39)	E727G	possibly damaging	Het
Got1	T	A	19: 43,489,000 (GRCm39)		probably benign	Het
Heatr5a	A	G	12: 51,928,061 (GRCm39)		probably benign	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,493,451 (GRCm39)	N252K	probably benign	Het
Ing1	T	C	8: 11,611,934 (GRCm39)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Klc1	A	T	12: 111,741,006 (GRCm39)	I161F	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,346,338 (GRCm39)	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,206,422 (GRCm39)	D1713G	probably damaging	Het
Mctp2	T	A	7: 71,771,499 (GRCm39)		probably benign	Het
Muc6	T	G	7: 141,233,880 (GRCm39)	E808A	probably benign	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,697,435 (GRCm39)	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,467,005 (GRCm39)	V670A	possibly damaging	Het
Nphp3	T	C	9: 103,913,093 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Or5an6	G	A	19: 12,371,914 (GRCm39)	V96I	probably benign	Het
Or5p57	G	T	7: 107,665,885 (GRCm39)	T40K	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Ppwd1	A	G	13: 104,356,745 (GRCm39)	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,127,699 (GRCm39)	W274C	probably damaging	Het
Rabep1	T	C	11: 70,828,342 (GRCm39)		probably benign	Het
Ralgapa1	G	A	12: 55,842,438 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,375,064 (GRCm39)		probably null	Het
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,672,549 (GRCm39)		probably benign	Het
Sirpb1b	A	G	3: 15,568,243 (GRCm39)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Slc5a6	C	T	5: 31,199,957 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,800,660 (GRCm39)	R2292C	probably damaging	Het
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	Het
Tmc3	T	C	7: 83,271,713 (GRCm39)	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Ttc23	T	C	7: 67,359,063 (GRCm39)		probably benign	Het
Ttc36	A	T	9: 44,713,094 (GRCm39)		probably benign	Het
Tubb3	C	T	8: 124,138,414 (GRCm39)		probably benign	Het
Vmn2r68	C	T	7: 84,871,088 (GRCm39)	V732I	probably benign	Het
Vps18	A	G	2: 119,127,709 (GRCm39)	Y844C	probably benign	Het
Wdr72	T	A	9: 74,064,552 (GRCm39)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp606	T	G	7: 12,215,123 (GRCm39)		probably benign	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	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
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
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

Posted On

2014-05-07