Mutagenetix > Incidental Mutations

Incidental Mutation 'R6158:Cacnb2'

489674

Institutional Source

Beutler Lab

Gene Symbol

Cacnb2

Ensembl Gene

ENSMUSG00000057914

Gene Name

calcium channel, voltage-dependent, beta 2 subunit

Synonyms

Cchb2, Cavbeta2

MMRRC Submission

044305-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14603088-14987908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14985601 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 454 (D454G)

Ref Sequence

ENSEMBL: ENSMUSP00000110367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114719] [ENSMUST00000114723] [ENSMUST00000193800]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114719
AA Change: D454G

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: D454G

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	24	65	1.7e-26	PFAM
SH3	69	133	2.42e-2	SMART
low complexity region	149	161	N/A	INTRINSIC
GuKc	232	414	6.11e-38	SMART
low complexity region	419	448	N/A	INTRINSIC
low complexity region	546	561	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114723
AA Change: D498G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: D498G

Domain	Start	End	E-Value	Type
low complexity region	50	61	N/A	INTRINSIC
Pfam:VGCC_beta4Aa_N	68	109	2.7e-25	PFAM
SH3	113	177	2.42e-2	SMART
low complexity region	193	205	N/A	INTRINSIC
GuKc	276	458	6.11e-38	SMART
low complexity region	463	492	N/A	INTRINSIC
low complexity region	590	605	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193452

Predicted Effect

probably benign
Transcript: ENSMUST00000193522

Predicted Effect

probably benign
Transcript: ENSMUST00000193800
AA Change: D448G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: D448G

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	18	59	3.2e-27	PFAM
SH3	63	127	2.42e-2	SMART
low complexity region	143	155	N/A	INTRINSIC
GuKc	226	408	6.11e-38	SMART
low complexity region	413	442	N/A	INTRINSIC
low complexity region	540	555	N/A	INTRINSIC

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality at E10.5 with growth retardation, abnormal yolk vasculature and abnormal cardiac development and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	probably benign	Het

Other mutations in Cacnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Cacnb2	APN	2	14984270	missense	possibly damaging	0.95
IGL01806:Cacnb2	APN	2	14614268	missense	probably damaging	1.00
IGL01939:Cacnb2	APN	2	14971569	missense	probably benign	0.16
IGL02941:Cacnb2	APN	2	14958829	missense	probably benign	0.00
PIT1430001:Cacnb2	UTSW	2	14971601	nonsense	probably null
PIT4498001:Cacnb2	UTSW	2	14874819	nonsense	probably null
PIT4508001:Cacnb2	UTSW	2	14984419	missense	probably benign	0.00
R0095:Cacnb2	UTSW	2	14958775	missense	probably damaging	1.00
R0731:Cacnb2	UTSW	2	14985706	missense	possibly damaging	0.95
R1521:Cacnb2	UTSW	2	14614352	missense	probably benign	0.18
R1829:Cacnb2	UTSW	2	14985964	missense	possibly damaging	0.89
R2174:Cacnb2	UTSW	2	14958767	missense	probably benign	0.21
R2471:Cacnb2	UTSW	2	14984314	missense	probably damaging	1.00
R2473:Cacnb2	UTSW	2	14984314	missense	probably damaging	1.00
R3801:Cacnb2	UTSW	2	14824263	missense	possibly damaging	0.85
R3831:Cacnb2	UTSW	2	14981425	missense	probably damaging	1.00
R3832:Cacnb2	UTSW	2	14981425	missense	probably damaging	1.00
R3833:Cacnb2	UTSW	2	14981425	missense	probably damaging	1.00
R3981:Cacnb2	UTSW	2	14604503	missense	probably benign
R4231:Cacnb2	UTSW	2	14981440	missense	probably damaging	1.00
R4426:Cacnb2	UTSW	2	14975215	nonsense	probably null
R4569:Cacnb2	UTSW	2	14986000	missense	possibly damaging	0.94
R4815:Cacnb2	UTSW	2	14874780	missense	probably damaging	1.00
R4911:Cacnb2	UTSW	2	14981340	missense	possibly damaging	0.83
R5189:Cacnb2	UTSW	2	14986038	missense	possibly damaging	0.56
R6114:Cacnb2	UTSW	2	14975201	missense	possibly damaging	0.88
R6530:Cacnb2	UTSW	2	14975167	missense	probably damaging	1.00
R6612:Cacnb2	UTSW	2	14975149	missense	probably benign	0.41
R6882:Cacnb2	UTSW	2	14824299	missense	probably benign	0.00
R6889:Cacnb2	UTSW	2	14986015	missense	possibly damaging	0.55
R7804:Cacnb2	UTSW	2	14968037	missense	probably benign	0.08
R7820:Cacnb2	UTSW	2	14960666	missense	probably damaging	1.00
R7971:Cacnb2	UTSW	2	14971598	missense	possibly damaging	0.51
R7980:Cacnb2	UTSW	2	14604515	missense	probably benign
R7993:Cacnb2	UTSW	2	14963920	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AAGTTGTGCCACTAGGTGTTTC -3'
(R):5'- TTGGGTTTCAGAGTCAAACGTC -3'

Sequencing Primer
(F):5'- TCCAATAGCTGACTGTGAGC -3'
(R):5'- AGAGTCAAACGTCTCTTGCCTAG -3'

Posted On

2017-10-10