Mutagenetix > Incidental Mutations

Incidental Mutation 'R0270:Cacnb3'

35259

Institutional Source

Beutler Lab

Gene Symbol

Cacnb3

Ensembl Gene

ENSMUSG00000003352

Gene Name

calcium channel, voltage-dependent, beta 3 subunit

Synonyms

Cchb3, Beta3

MMRRC Submission

038496-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

R0270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98630840-98644529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98642559 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 350 (A350T)

Ref Sequence

ENSEMBL: ENSMUSP00000155514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003442] [ENSMUST00000003450] [ENSMUST00000109150] [ENSMUST00000230490]

Predicted Effect

probably damaging
Transcript: ENSMUST00000003442
AA Change: A323T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352
AA Change: A323T

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	16	58	8.7e-22	PFAM
SH3	62	125	1.04e0	SMART
GuKc	176	357	1.3e-32	SMART
low complexity region	363	379	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000003450

SMART Domains

Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360

Domain	Start	End	E-Value	Type
coiled coil region	63	93	N/A	INTRINSIC
low complexity region	110	130	N/A	INTRINSIC
low complexity region	143	159	N/A	INTRINSIC
coiled coil region	161	200	N/A	INTRINSIC
low complexity region	210	223	N/A	INTRINSIC
coiled coil region	320	352	N/A	INTRINSIC
DEXDc	409	641	2.95e-65	SMART
HELICc	677	758	2.43e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109150
AA Change: A349T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352
AA Change: A349T

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	15	57	2.2e-21	PFAM
SH3	61	124	1.04e0	SMART
GuKc	175	356	1.3e-32	SMART
low complexity region	362	378	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230064

Predicted Effect

probably damaging
Transcript: ENSMUST00000230490
AA Change: A350T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230769

Meta Mutation Damage Score

0.1840

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 96.0%
20x: 93.2%

Validation Efficiency

99% (113/114)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a null allele show altered Ca2+ channel activity, hyporesponsiveness to DHP, high blood pressure on a high salt diet, and impaired calcium responses and cytokine production in CD4 T cells. Homozygotes for another null allele show enhancedNMDA activity and long term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,166,176		probably benign	Het
4922502D21Rik	A	T	6: 129,325,608	L152*	probably null	Het
Abcf3	T	A	16: 20,560,168		probably null	Het
Acadm	C	T	3: 153,936,324	M190I	possibly damaging	Het
Adamtsl3	G	A	7: 82,556,824	R739Q	probably damaging	Het
Ank1	T	A	8: 23,088,925		probably benign	Het
Ap3b1	T	A	13: 94,404,118		probably benign	Het
Arhgdib	A	G	6: 136,926,734	V31A	probably damaging	Het
Arid4a	A	G	12: 71,072,632	R342G	probably damaging	Het
Asic3	C	T	5: 24,417,702	L517F	probably benign	Het
Atxn7l1	C	T	12: 33,342,151	P242L	possibly damaging	Het
AY761185	T	A	8: 20,944,600	E37D	possibly damaging	Het
Babam1	T	A	8: 71,398,406	D104E	probably damaging	Het
Batf	A	T	12: 85,708,672	T100S	probably benign	Het
Blcap	A	T	2: 157,557,977	Y59*	probably null	Het
Cdk15	T	A	1: 59,310,806	V319D	probably damaging	Het
Cenpf	T	C	1: 189,650,714	H2661R	probably benign	Het
Cenpq	T	C	17: 40,930,050	E106G	probably damaging	Het
Cfap43	A	G	19: 47,797,203		probably benign	Het
Cfb	G	A	17: 34,860,386	S778L	possibly damaging	Het
Clspn	T	A	4: 126,573,236	N631K	probably damaging	Het
Cntn2	T	A	1: 132,521,724	T660S	probably damaging	Het
Cntrob	T	A	11: 69,311,341	H475L	possibly damaging	Het
Ddx46	T	C	13: 55,674,104	I863T	probably benign	Het
Dnah11	G	A	12: 118,041,013	T2191I	probably damaging	Het
Dock9	T	C	14: 121,575,999	T1703A	probably benign	Het
Fam13c	C	T	10: 70,544,513	P424S	probably benign	Het
Fan1	T	C	7: 64,348,871	N968D	probably benign	Het
Fbxl20	A	T	11: 98,098,503		probably benign	Het
Fkbp1b	A	T	12: 4,838,229		probably benign	Het
G930045G22Rik	T	A	6: 50,847,059		noncoding transcript	Het
Gm28042	C	A	2: 120,041,592	R1008S	probably benign	Het
Gm6614	T	A	6: 141,972,411	I580F	possibly damaging	Het
Gm8298	T	A	3: 59,877,019	N304K	probably benign	Het
Gon4l	G	A	3: 88,858,400	S376N	probably damaging	Het
Gstt3	C	A	10: 75,780,915	R15L	probably damaging	Het
Gtdc1	A	T	2: 44,752,174	S73T	possibly damaging	Het
H2afy	G	A	13: 56,096,114		probably benign	Het
Hhatl	A	G	9: 121,784,720	S419P	probably benign	Het
Hirip3	T	G	7: 126,863,191	S46R	probably damaging	Het
Hsf2	A	G	10: 57,502,639	T204A	probably benign	Het
Impg2	G	A	16: 56,269,015	E1108K	possibly damaging	Het
Itgb2l	G	T	16: 96,422,930		probably benign	Het
Itih5	A	T	2: 10,251,264	N847I	probably benign	Het
Kif1a	T	C	1: 93,054,442		probably benign	Het
Klhl1	T	A	14: 96,518,344		probably benign	Het
Ktn1	T	A	14: 47,714,662	D963E	probably benign	Het
Lclat1	T	A	17: 73,240,027	V313E	probably benign	Het
Lrrn4	T	C	2: 132,870,719	S395G	probably benign	Het
Mbtps1	G	A	8: 119,538,117		probably benign	Het
Me1	A	G	9: 86,596,204		probably benign	Het
Mov10	C	A	3: 104,795,405	C948F	probably benign	Het
Mterf1a	G	A	5: 3,890,990	Q293*	probably null	Het
Nfkb2	A	T	19: 46,311,626	M838L	possibly damaging	Het
Nhlrc2	T	A	19: 56,551,870	L97Q	probably damaging	Het
Nr6a1	A	T	2: 38,739,020	Y331N	possibly damaging	Het
Nup214	C	T	2: 32,034,814	A1785V	probably damaging	Het
Ogg1	C	T	6: 113,329,256	T138I	probably benign	Het
Olfr1461	A	G	19: 13,165,887	Y291C	probably damaging	Het
Olfr1489	A	G	19: 13,633,684	Y191C	probably damaging	Het
Olfr202	A	G	16: 59,283,753	V248A	probably damaging	Het
Olfr829	T	A	9: 18,856,831	Y60N	probably damaging	Het
Plod2	G	T	9: 92,584,521	R178L	probably benign	Het
Polr3b	T	A	10: 84,718,475	L1017Q	probably benign	Het
Postn	C	A	3: 54,384,550	T724N	probably damaging	Het
Ppm1l	T	G	3: 69,317,976		probably benign	Het
Prpf8	T	G	11: 75,505,249	L1983R	probably damaging	Het
Psma7	A	G	2: 180,039,400	V59A	probably benign	Het
Qser1	T	A	2: 104,788,961	Y502F	probably benign	Het
Rad50	T	C	11: 53,668,025	D1129G	probably damaging	Het
Rasal1	C	A	5: 120,674,729	P606Q	probably damaging	Het
Rgs6	A	G	12: 83,133,689	Y438C	probably damaging	Het
Rnf180	A	G	13: 105,252,266	C73R	probably benign	Het
Rnf216	T	A	5: 143,080,241	I474F	possibly damaging	Het
Sdha	A	T	13: 74,332,247	L371Q	probably damaging	Het
Sdk1	T	G	5: 142,084,566	L1162R	possibly damaging	Het
Sh3rf2	T	C	18: 42,104,081	I223T	probably damaging	Het
Sirpb1a	A	G	3: 15,410,527	V316A	probably damaging	Het
Slc12a4	A	T	8: 105,945,389	I897N	probably benign	Het
Slc35d1	A	T	4: 103,190,838	V243E	probably damaging	Het
Slc4a11	T	A	2: 130,690,932	K200N	possibly damaging	Het
Slc9a8	T	A	2: 167,451,296	M188K	probably damaging	Het
Snrnp200	T	C	2: 127,232,982	S1492P	probably damaging	Het
Sphk2	T	C	7: 45,710,725	*618W	probably null	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tdpoz3	A	G	3: 93,826,924	N302S	probably benign	Het
Tdrd6	T	C	17: 43,624,308	M1950V	probably benign	Het
Tmem39a	A	G	16: 38,564,313		probably benign	Het
Trip4	A	T	9: 65,858,358	I353K	probably damaging	Het
Trip6	A	T	5: 137,312,841	F204L	probably benign	Het
Trpm4	T	A	7: 45,319,253	I419F	possibly damaging	Het
Ttn	C	A	2: 76,944,796	E1967D	probably damaging	Het
Uba2	C	T	7: 34,150,856	V391M	possibly damaging	Het
Ubr4	T	G	4: 139,479,435		probably benign	Het
Upf1	G	A	8: 70,335,645		probably benign	Het
Vmn1r228	A	C	17: 20,776,596	V220G	possibly damaging	Het
Vmn2r79	A	G	7: 87,003,386	M429V	probably benign	Het
Vps36	C	T	8: 22,210,456	T210I	possibly damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Ybx1	C	T	4: 119,281,591	G126D	probably benign	Het
Yipf5	C	A	18: 40,206,407		probably benign	Het
Zdhhc5	A	C	2: 84,690,115	S573A	probably benign	Het
Zfp457	A	T	13: 67,293,927	C99S	probably damaging	Het
Zfp52	T	A	17: 21,561,302	C471S	probably damaging	Het
Zfp558	C	T	9: 18,467,956	V71I	probably damaging	Het
Zfp651	A	G	9: 121,767,575	T666A	probably benign	Het
Zfp655	A	G	5: 145,244,457	Y375C	probably damaging	Het
Zfp882	A	T	8: 71,914,615	T429S	probably benign	Het
Zmym2	T	C	14: 56,949,684		probably null	Het

Other mutations in Cacnb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Cacnb3	APN	15	98642002	nonsense	probably null
IGL01298:Cacnb3	APN	15	98639853	missense	probably damaging	1.00
IGL01535:Cacnb3	APN	15	98639588	missense	probably benign	0.02
IGL01537:Cacnb3	APN	15	98643420	missense	probably damaging	1.00
IGL02304:Cacnb3	APN	15	98642382	missense	probably damaging	1.00
IGL02349:Cacnb3	APN	15	98640961	nonsense	probably null
R1677:Cacnb3	UTSW	15	98642574	missense	probably damaging	1.00
R3407:Cacnb3	UTSW	15	98641187	missense	probably benign	0.19
R3408:Cacnb3	UTSW	15	98641187	missense	probably benign	0.19
R4160:Cacnb3	UTSW	15	98640720	missense	probably damaging	1.00
R5123:Cacnb3	UTSW	15	98639869	missense	probably damaging	1.00
R5356:Cacnb3	UTSW	15	98641617	missense	probably damaging	0.96
R7773:Cacnb3	UTSW	15	98639938	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGAAAGTCACAGATGAAGCACCTC -3'
(R):5'- GTCACTGTGCTGTCCAATCAGGAAG -3'

Sequencing Primer
(F):5'- TACGATAAGCTGGTTCAGTGCC -3'
(R):5'- ACCTGTGTGCCATAAGGTC -3'

Posted On

2013-05-09