Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Camk2g'

32994

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

038341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0047 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

20784943-20844156 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 20821136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154158 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000224566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225958

Predicted Effect

probably benign
Transcript: ENSMUST00000226630

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,025 (GRCm39)	T405A	probably damaging	Het
Acer1	A	T	17: 57,262,624 (GRCm39)	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,460,168 (GRCm39)	I395V	probably benign	Het
Adamts9	G	A	6: 92,882,287 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,857 (GRCm39)	S427P	probably benign	Het
Ankrd35	A	G	3: 96,591,379 (GRCm39)	K555R	probably benign	Het
Arhgap35	A	T	7: 16,295,917 (GRCm39)	H1049Q	probably benign	Het
Arhgef5	G	A	6: 43,242,555 (GRCm39)		probably null	Het
Arid4a	T	G	12: 71,122,193 (GRCm39)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,098,647 (GRCm39)	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,109,733 (GRCm39)	L261P	probably damaging	Het
Bltp1	T	A	3: 36,962,341 (GRCm39)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,317,982 (GRCm39)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,068,747 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,589,812 (GRCm39)		probably null	Het
Cdkl4	T	G	17: 80,858,274 (GRCm39)	N115T	probably benign	Het
Chchd1	T	C	14: 20,754,231 (GRCm39)	S48P	possibly damaging	Het
Chia1	G	T	3: 106,022,573 (GRCm39)	C49F	probably damaging	Het
Cnot7	A	G	8: 40,948,962 (GRCm39)		probably benign	Het
Crh	T	C	3: 19,748,201 (GRCm39)	E147G	probably damaging	Het
Cux1	T	C	5: 136,392,107 (GRCm39)		probably benign	Het
Cyp2b19	T	A	7: 26,466,251 (GRCm39)	D351E	probably benign	Het
Dctn1	G	T	6: 83,159,614 (GRCm39)	G31*	probably null	Het
Duox1	T	A	2: 122,177,122 (GRCm39)		probably benign	Het
Egflam	T	G	15: 7,282,911 (GRCm39)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,208,542 (GRCm39)	N73S	probably benign	Het
Ffar4	A	G	19: 38,102,452 (GRCm39)		probably benign	Het
Glg1	A	T	8: 111,892,214 (GRCm39)	M866K	probably damaging	Het
Golm1	T	A	13: 59,792,914 (GRCm39)	H197L	probably benign	Het
Gtse1	A	G	15: 85,746,579 (GRCm39)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,710,339 (GRCm39)		probably benign	Het
Hrc	T	A	7: 44,986,113 (GRCm39)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,251,788 (GRCm39)		probably benign	Het
Ihh	A	G	1: 74,985,750 (GRCm39)	I245T	probably benign	Het
Ilf3	T	A	9: 21,300,010 (GRCm39)	M65K	possibly damaging	Het
Insr	A	G	8: 3,252,947 (GRCm39)	V404A	probably damaging	Het
Irak2	G	T	6: 113,649,914 (GRCm39)		probably benign	Het
Irak2	G	A	6: 113,655,699 (GRCm39)	V367I	probably benign	Het
Kat7	A	C	11: 95,191,034 (GRCm39)	N119K	probably benign	Het
Kif9	A	G	9: 110,314,106 (GRCm39)	I33V	probably benign	Het
Klf17	A	G	4: 117,618,229 (GRCm39)	Y43H	probably benign	Het
Kng2	T	A	16: 22,806,313 (GRCm39)	T629S	possibly damaging	Het
Lama1	A	T	17: 68,102,181 (GRCm39)		probably benign	Het
Lamb1	T	C	12: 31,328,600 (GRCm39)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,480,550 (GRCm39)		probably benign	Het
Lrp12	T	C	15: 39,741,635 (GRCm39)	E360G	probably damaging	Het
Mark2	A	C	19: 7,260,942 (GRCm39)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,928,727 (GRCm39)		probably benign	Het
Mtr	A	T	13: 12,237,112 (GRCm39)	S569T	probably damaging	Het
Myh13	T	A	11: 67,258,063 (GRCm39)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,063,489 (GRCm39)	L565H	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,300,814 (GRCm39)	L72*	probably null	Het
Numa1	A	G	7: 101,658,660 (GRCm39)	K296E	probably damaging	Het
Obi1	T	A	14: 104,740,780 (GRCm39)		probably null	Het
Or51ab3	A	T	7: 103,201,529 (GRCm39)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,089,574 (GRCm39)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,479,953 (GRCm39)	E82G	probably benign	Het
Or5h18	T	A	16: 58,847,587 (GRCm39)	M228L	probably benign	Het
Or5p80	A	G	7: 108,229,759 (GRCm39)	I187V	probably benign	Het
Pcdhb5	A	T	18: 37,454,321 (GRCm39)	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,661,920 (GRCm39)	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,470,901 (GRCm39)		probably benign	Het
Pnpla7	A	T	2: 24,901,618 (GRCm39)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,073,895 (GRCm39)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,772,873 (GRCm39)	R117*	probably null	Het
Rabgap1l	G	A	1: 160,059,359 (GRCm39)		probably benign	Het
Rapgef6	T	A	11: 54,437,204 (GRCm39)	M49K	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Rtel1	T	G	2: 180,965,198 (GRCm39)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,739,541 (GRCm39)	M219L	probably benign	Het
Serpina3g	T	A	12: 104,206,543 (GRCm39)	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 33,034,259 (GRCm39)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,264,297 (GRCm39)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm39)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,227,068 (GRCm39)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,076,874 (GRCm39)		probably benign	Het
Snx13	C	A	12: 35,151,123 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,494,402 (GRCm39)	A828T	probably damaging	Het
Spic	A	G	10: 88,511,803 (GRCm39)	L151P	probably damaging	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,446,443 (GRCm39)		probably benign	Het
Tbx3	A	T	5: 119,818,511 (GRCm39)	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,606,547 (GRCm39)	I469T	probably benign	Het
Tln2	A	G	9: 67,147,954 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,888,682 (GRCm39)	I1260L	probably benign	Het
Treml1	C	A	17: 48,672,008 (GRCm39)	S91*	probably null	Het
Trim26	T	C	17: 37,168,756 (GRCm39)		probably benign	Het
Trmt11	T	C	10: 30,411,239 (GRCm39)	N418S	probably benign	Het
Ttf1	A	G	2: 28,974,667 (GRCm39)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,414,403 (GRCm39)	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,460,858 (GRCm39)	V728A	probably benign	Het
Vps4a	T	C	8: 107,763,333 (GRCm39)	L29P	probably damaging	Het
Wdfy3	A	G	5: 102,091,899 (GRCm39)	I480T	probably damaging	Het
Wdr41	A	G	13: 95,146,795 (GRCm39)	I197V	probably damaging	Het
Ywhag	A	T	5: 135,940,153 (GRCm39)	V147E	probably damaging	Het
Zan	A	G	5: 137,401,918 (GRCm39)	M4058T	unknown	Het
Zfp236	C	T	18: 82,698,817 (GRCm39)	C88Y	probably damaging	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
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

PCR Primer
(F):5'- TTCCTCAAGCAATGGGAAGGAGC -3'
(R):5'- TGATTCATTCTCTGAGCCACGAAGC -3'

Sequencing Primer
(F):5'- CAATGGGAAGGAGCCCTCAC -3'
(R):5'- AACCAAGCACTAGTCTCTTGCTG -3'

Posted On

2013-05-09