Mutagenetix > Incidental Mutations

Incidental Mutation 'R6294:Camk2g'

508631

Institutional Source

Beutler Lab

Gene Symbol

Camk2g

Ensembl Gene

ENSMUSG00000021820

Gene Name

calcium/calmodulin-dependent protein kinase II gamma

Synonyms

CaMK II, 5930429P18Rik, Camkg, Ca2+/calmodulin-dependent protein kinase II

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20734875-20794088 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20764949 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 203 (I203T)

Ref Sequence

ENSEMBL: ENSMUSP00000154158 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071816
AA Change: I203T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071720
Gene: ENSMUSG00000021820
AA Change: I203T

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 damaging
Transcript: ENSMUST00000080440
AA Change: I203T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079298
Gene: ENSMUSG00000021820
AA Change: I203T

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 damaging
Transcript: ENSMUST00000100837
AA Change: I203T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098398
Gene: ENSMUSG00000021820
AA Change: I203T

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

noncoding transcript
Transcript: ENSMUST00000224566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224804

Predicted Effect

probably benign
Transcript: ENSMUST00000224887

Predicted Effect

probably benign
Transcript: ENSMUST00000225463

Predicted Effect

probably damaging
Transcript: ENSMUST00000225609
AA Change: I9T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225958

Predicted Effect

probably damaging
Transcript: ENSMUST00000226630
AA Change: I203T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9601

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

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
A2m	A	T	6: 121,654,481	H579L	probably benign	Het
Aldh2	G	A	5: 121,572,816	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,520,164	H10Q	probably benign	Het
Arpp21	A	G	9: 112,127,452	F453L	probably damaging	Het
Birc6	C	A	17: 74,689,257	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,719,057	S411T	possibly damaging	Het
Cat	A	T	2: 103,460,295	C425S	probably benign	Het
Ccdc34	A	G	2: 110,018,151	D95G	probably benign	Het
Clca4b	T	C	3: 144,925,185	S305G	probably null	Het
Cul7	T	C	17: 46,663,148	I1453T	probably benign	Het
Dlg1	T	A	16: 31,838,124	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986	K561T	probably benign	Het
Erbin	T	C	13: 103,857,056	T359A	probably benign	Het
Far2	T	A	6: 148,157,482	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,423,803	E114G	probably benign	Het
Fryl	A	T	5: 73,191,759		probably benign	Het
Ggn	A	G	7: 29,173,848	D666G	possibly damaging	Het
Hal	G	A	10: 93,514,143		probably null	Het
Htt	A	G	5: 34,821,826	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,994,598	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,823,442	S87L	probably damaging	Het
Klhl29	A	T	12: 5,083,995	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,952,772	Y43N	probably damaging	Het
Krtap6-3	T	A	16: 89,084,101	Y7N	unknown	Het
Lama4	T	A	10: 39,075,470	F1070L	probably damaging	Het
Map4	A	G	9: 110,002,746	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,932,232	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,704,590	M581T	probably benign	Het
Mtss1l	T	A	8: 110,727,328	N43K	possibly damaging	Het
Mylk3	T	A	8: 85,350,383	I475F	probably damaging	Het
Nat14	C	T	7: 4,924,074	R82*	probably null	Het
Nckap1	T	C	2: 80,541,514	N324S	probably benign	Het
Nemp1	C	T	10: 127,694,522	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,397,239	H425Q	probably benign	Het
Olfr101	T	A	17: 37,299,553	T290S	probably benign	Het
Olfr1318	A	G	2: 112,156,019	I23V	probably benign	Het
Olfr1487	T	C	19: 13,619,366	V25A	probably benign	Het
Olfr584	A	T	7: 103,085,667	I45F	probably benign	Het
Olfr622	A	G	7: 103,639,591	M183T	probably damaging	Het
Olfr95	T	C	17: 37,211,626	T76A	probably benign	Het
Omd	T	A	13: 49,589,991	N172K	probably damaging	Het
Orc1	T	C	4: 108,590,670	I38T	probably benign	Het
Oxct1	A	G	15: 4,142,822	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,477,668	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,570,028	I3435F	probably damaging	Het
Psg20	C	A	7: 18,682,679	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,937,099	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,231,849	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,291,792	Y372*	probably null	Het
Rell1	G	T	5: 63,939,705		probably benign	Het
Rps14	A	G	18: 60,776,961	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,557,120	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,879,496	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,091,621		probably null	Het
Slc14a1	T	A	18: 78,110,058		probably null	Het
Smad2	A	T	18: 76,289,162	N215I	probably benign	Het
Smchd1	A	T	17: 71,370,927	N1473K	probably benign	Het
Spag9	A	G	11: 94,093,485		probably null	Het
Stk31	A	C	6: 49,417,344	R213S	probably benign	Het
Tmod4	A	T	3: 95,128,306	Q255L	probably benign	Het
Tnpo1	T	A	13: 98,890,774	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,661,761	Y206*	probably null	Het
Tulp2	A	G	7: 45,514,692	K36E	probably damaging	Het
Tulp4	C	T	17: 6,201,819	R282C	probably damaging	Het
Unc5b	A	T	10: 60,778,331	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,536,370	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,419,821	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,024,419	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,477,854	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,687,229	F601L	probably benign	Het
Zc3h3	A	T	15: 75,809,568	S555T	possibly damaging	Het

Other mutations in Camk2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Camk2g	APN	14	20737330	missense	probably damaging	0.99
IGL00822:Camk2g	APN	14	20737330	missense	probably damaging	0.99
IGL00932:Camk2g	APN	14	20737330	missense	probably damaging	0.99
IGL00934:Camk2g	APN	14	20737330	missense	probably damaging	0.99
IGL00935:Camk2g	APN	14	20737330	missense	probably damaging	0.99
IGL00938:Camk2g	APN	14	20737330	missense	probably damaging	0.99
IGL01151:Camk2g	APN	14	20765959	missense	probably damaging	1.00
IGL01578:Camk2g	APN	14	20747854	splice site	probably benign
IGL02749:Camk2g	APN	14	20766016	critical splice acceptor site	probably null
changchun	UTSW	14	20742708	nonsense	probably null
Jilin	UTSW	14	20766212	nonsense	probably null
jingyuetan	UTSW	14	20793931	missense	possibly damaging	0.57
Manchuria	UTSW	14	20764949	missense	probably damaging	1.00
F5770:Camk2g	UTSW	14	20739312	splice site	probably benign
R0047:Camk2g	UTSW	14	20771068	splice site	probably benign
R0761:Camk2g	UTSW	14	20766212	nonsense	probably null
R0783:Camk2g	UTSW	14	20744636	missense	possibly damaging	0.56
R2239:Camk2g	UTSW	14	20739387	missense	probably damaging	1.00
R2240:Camk2g	UTSW	14	20765446	missense	probably damaging	1.00
R2380:Camk2g	UTSW	14	20739387	missense	probably damaging	1.00
R3623:Camk2g	UTSW	14	20755707	splice site	probably benign
R3842:Camk2g	UTSW	14	20764898	missense	probably damaging	0.99
R4909:Camk2g	UTSW	14	20792584	missense	probably benign	0.29
R5329:Camk2g	UTSW	14	20793931	missense	possibly damaging	0.57
R5613:Camk2g	UTSW	14	20737491	missense	probably damaging	0.98
R5763:Camk2g	UTSW	14	20739347	missense	probably damaging	1.00
R6345:Camk2g	UTSW	14	20737375	missense	probably damaging	1.00
R6698:Camk2g	UTSW	14	20742708	nonsense	probably null
R7010:Camk2g	UTSW	14	20741444	missense	probably benign
R7187:Camk2g	UTSW	14	20742712	missense	probably benign
R7257:Camk2g	UTSW	14	20747839	missense	probably benign	0.01
R7459:Camk2g	UTSW	14	20779207	missense	probably damaging	0.97
R7655:Camk2g	UTSW	14	20739342	missense	possibly damaging	0.69
R7656:Camk2g	UTSW	14	20739342	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- ACTACTCCCTTGGACAGACC -3'
(R):5'- TTCTTGGAGAAGGGCTCGTC -3'

Sequencing Primer
(F):5'- TCCCTTGGACAGACCCTTAGG -3'
(R):5'- CTAAAGAAGTCTCTGACATGGCTTGG -3'

Posted On

2018-03-15