Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Cacnb2'

341970

Institutional Source

Beutler Lab

Gene Symbol

Cacnb2

Ensembl Gene

ENSMUSG00000057914

Gene Name

calcium channel, voltage-dependent, beta 2 subunit

Synonyms

Cchb2, Cavbeta2

MMRRC Submission

041793-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14607899-14992719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14990811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 587 (D587V)

Ref Sequence

ENSEMBL: ENSMUSP00000110367 (fasta)

Gene Model

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

AlphaFold

Q8CC27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114719
AA Change: D587V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: D587V

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

possibly damaging
Transcript: ENSMUST00000114723
AA Change: D631V

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: D631V

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

possibly damaging
Transcript: ENSMUST00000193800
AA Change: D581V

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: D581V

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,262 (GRCm39)	T322A	probably benign	Het
Abhd13	C	T	8: 10,038,071 (GRCm39)	P223S	possibly damaging	Het
Adgra3	T	A	5: 50,117,905 (GRCm39)	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,927,373 (GRCm39)	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,739,556 (GRCm39)	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,618,166 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,290,343 (GRCm39)	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,766,549 (GRCm39)	N49K	possibly damaging	Het
Ccar2	A	T	14: 70,389,359 (GRCm39)		probably null	Het
Cdk2ap2	T	C	19: 4,147,879 (GRCm39)	F49L	possibly damaging	Het
Cdon	A	T	9: 35,388,265 (GRCm39)	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,760,029 (GRCm39)	R508W	probably damaging	Het
Dclk1	T	C	3: 55,154,831 (GRCm39)	L87P	probably damaging	Het
Ddx41	G	A	13: 55,683,834 (GRCm39)	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,450,818 (GRCm39)	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,306,373 (GRCm39)		probably null	Het
Dph1	A	T	11: 75,069,721 (GRCm39)		probably benign	Het
Egln2	A	G	7: 26,859,008 (GRCm39)	I382T	probably damaging	Het
Enpp3	A	G	10: 24,652,780 (GRCm39)	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,044,873 (GRCm39)	F353L	probably damaging	Het
Fchsd2	G	A	7: 100,926,809 (GRCm39)	G657D	possibly damaging	Het
Fer1l4	T	A	2: 155,878,559 (GRCm39)	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,337,762 (GRCm39)	V149I	probably benign	Het
Glipr1l1	A	G	10: 111,898,317 (GRCm39)	M141V	probably benign	Het
Gnaq	T	C	19: 16,312,370 (GRCm39)	S211P	probably damaging	Het
Gnl1	A	G	17: 36,299,142 (GRCm39)	R527G	probably benign	Het
Gns	A	G	10: 121,217,083 (GRCm39)	Q286R	probably benign	Het
Gon4l	T	C	3: 88,817,397 (GRCm39)		probably benign	Het
Gpr107	T	C	2: 31,097,677 (GRCm39)		probably benign	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,857 (GRCm39)	D124E	probably damaging	Het
Hbp1	T	A	12: 32,000,231 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,230,875 (GRCm39)	T371I	unknown	Het
Ints2	A	G	11: 86,147,024 (GRCm39)	C41R	probably damaging	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Jph4	G	T	14: 55,352,503 (GRCm39)	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl12	A	T	1: 134,413,507 (GRCm39)	I331F	probably benign	Het
Map4k4	G	A	1: 40,039,698 (GRCm39)	R30Q	probably damaging	Het
Mgst1	C	A	6: 138,133,213 (GRCm39)	T176K	probably damaging	Het
Negr1	C	A	3: 156,914,013 (GRCm39)		probably benign	Het
Nrg1	C	T	8: 32,407,802 (GRCm39)	V144I	probably benign	Het
Ntmt2	T	A	1: 163,530,586 (GRCm39)	*284C	probably null	Het
Or1ad8	T	C	11: 50,898,381 (GRCm39)	I194T	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Pex11b	A	T	3: 96,551,330 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,994,593 (GRCm39)		probably benign	Het
Ppip5k1	C	T	2: 121,174,044 (GRCm39)	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Prrc2a	G	A	17: 35,377,473 (GRCm39)	P562S	unknown	Het
Rdx	A	G	9: 51,980,141 (GRCm39)	I245V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rhob	T	G	12: 8,549,373 (GRCm39)	D87A	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sbf2	A	G	7: 109,948,060 (GRCm39)		probably null	Het
Sipa1l3	G	T	7: 29,025,287 (GRCm39)	P619Q	probably damaging	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Ston2	T	A	12: 91,606,496 (GRCm39)	*896C	probably null	Het
Stradb	C	T	1: 59,019,117 (GRCm39)	R13*	probably null	Het
Tbx21	G	A	11: 97,005,581 (GRCm39)	A128V	probably benign	Het
Tep1	A	T	14: 51,062,197 (GRCm39)	C2552S	probably benign	Het
Tgif1	A	T	17: 71,151,912 (GRCm39)	V233E	possibly damaging	Het
Trim31	A	T	17: 37,209,633 (GRCm39)	I130L	probably benign	Het
Trrap	C	T	5: 144,728,928 (GRCm39)	T614I	probably benign	Het
Ttn	C	A	2: 76,766,758 (GRCm39)	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,274,956 (GRCm39)	D322E	probably benign	Het
Unc45b	T	A	11: 82,827,315 (GRCm39)		probably null	Het
Usp43	C	T	11: 67,789,788 (GRCm39)	C252Y	probably damaging	Het
Usp43	A	T	11: 67,766,178 (GRCm39)	L744*	probably null	Het
Vmn2r71	A	C	7: 85,273,402 (GRCm39)	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,284,124 (GRCm39)	T653M	probably benign	Het
Wdr83os	T	A	8: 85,808,495 (GRCm39)	S82R	probably damaging	Het
Xpo6	T	A	7: 125,727,427 (GRCm39)	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,466,894 (GRCm39)	V2351I	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het

Other mutations in Cacnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Cacnb2	APN	2	14,989,081 (GRCm39)	missense	possibly damaging	0.95
IGL01806:Cacnb2	APN	2	14,619,079 (GRCm39)	missense	probably damaging	1.00
IGL01939:Cacnb2	APN	2	14,976,380 (GRCm39)	missense	probably benign	0.16
IGL02941:Cacnb2	APN	2	14,963,640 (GRCm39)	missense	probably benign	0.00
PIT1430001:Cacnb2	UTSW	2	14,976,412 (GRCm39)	nonsense	probably null
PIT4498001:Cacnb2	UTSW	2	14,879,630 (GRCm39)	nonsense	probably null
PIT4508001:Cacnb2	UTSW	2	14,989,230 (GRCm39)	missense	probably benign	0.00
R0095:Cacnb2	UTSW	2	14,963,586 (GRCm39)	missense	probably damaging	1.00
R0731:Cacnb2	UTSW	2	14,990,517 (GRCm39)	missense	possibly damaging	0.95
R1521:Cacnb2	UTSW	2	14,619,163 (GRCm39)	missense	probably benign	0.18
R1829:Cacnb2	UTSW	2	14,990,775 (GRCm39)	missense	possibly damaging	0.89
R2174:Cacnb2	UTSW	2	14,963,578 (GRCm39)	missense	probably benign	0.21
R2471:Cacnb2	UTSW	2	14,989,125 (GRCm39)	missense	probably damaging	1.00
R2473:Cacnb2	UTSW	2	14,989,125 (GRCm39)	missense	probably damaging	1.00
R3801:Cacnb2	UTSW	2	14,829,074 (GRCm39)	missense	possibly damaging	0.85
R3831:Cacnb2	UTSW	2	14,986,236 (GRCm39)	missense	probably damaging	1.00
R3832:Cacnb2	UTSW	2	14,986,236 (GRCm39)	missense	probably damaging	1.00
R3833:Cacnb2	UTSW	2	14,986,236 (GRCm39)	missense	probably damaging	1.00
R3981:Cacnb2	UTSW	2	14,609,314 (GRCm39)	missense	probably benign
R4231:Cacnb2	UTSW	2	14,986,251 (GRCm39)	missense	probably damaging	1.00
R4426:Cacnb2	UTSW	2	14,980,026 (GRCm39)	nonsense	probably null
R4815:Cacnb2	UTSW	2	14,879,591 (GRCm39)	missense	probably damaging	1.00
R4911:Cacnb2	UTSW	2	14,986,151 (GRCm39)	missense	possibly damaging	0.83
R5189:Cacnb2	UTSW	2	14,990,849 (GRCm39)	missense	possibly damaging	0.56
R6114:Cacnb2	UTSW	2	14,980,012 (GRCm39)	missense	possibly damaging	0.88
R6158:Cacnb2	UTSW	2	14,990,412 (GRCm39)	missense	possibly damaging	0.62
R6530:Cacnb2	UTSW	2	14,979,978 (GRCm39)	missense	probably damaging	1.00
R6612:Cacnb2	UTSW	2	14,979,960 (GRCm39)	missense	probably benign	0.41
R6882:Cacnb2	UTSW	2	14,829,110 (GRCm39)	missense	probably benign	0.00
R6889:Cacnb2	UTSW	2	14,990,826 (GRCm39)	missense	possibly damaging	0.55
R7804:Cacnb2	UTSW	2	14,972,848 (GRCm39)	missense	probably benign	0.08
R7820:Cacnb2	UTSW	2	14,965,477 (GRCm39)	missense	probably damaging	1.00
R7971:Cacnb2	UTSW	2	14,976,409 (GRCm39)	missense	possibly damaging	0.51
R7980:Cacnb2	UTSW	2	14,609,326 (GRCm39)	missense	probably benign
R7993:Cacnb2	UTSW	2	14,968,731 (GRCm39)	missense	probably benign	0.16
R8762:Cacnb2	UTSW	2	14,972,759 (GRCm39)	missense	possibly damaging	0.71
R8868:Cacnb2	UTSW	2	14,989,080 (GRCm39)	missense	probably benign	0.41
R9147:Cacnb2	UTSW	2	14,972,773 (GRCm39)	missense	possibly damaging	0.89
R9148:Cacnb2	UTSW	2	14,972,773 (GRCm39)	missense	possibly damaging	0.89
R9211:Cacnb2	UTSW	2	14,879,308 (GRCm39)	missense	unknown
R9521:Cacnb2	UTSW	2	14,609,138 (GRCm39)	start gained	probably benign
R9773:Cacnb2	UTSW	2	14,976,452 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGCCAAAGGAAGATTATTCAC -3'
(R):5'- TTGCATGCCATTGCTATTGGAG -3'

Sequencing Primer
(F):5'- CATGAACATGTGGACCGGTATGTC -3'
(R):5'- TTGGAGCAACAGCAATACAAAATAG -3'

Posted On

2015-09-24