Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Cacnb2'

67535

Institutional Source

Beutler Lab

Gene Symbol

Cacnb2

Ensembl Gene

ENSMUSG00000057914

Gene Name

calcium channel, voltage-dependent, beta 2 subunit

Synonyms

Cchb2, Cavbeta2

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0731 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

14607899-14992719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14990517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 489 (H489R)

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: H489R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: H489R

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: H533R

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: H533R

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: H483R

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: H483R

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

0.0844

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	probably 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
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
R4569:Cacnb2	UTSW	2	14,990,811 (GRCm39)	missense	possibly damaging	0.94
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'- AAGCTGGGCTGGGCTTCATTTC -3'
(R):5'- CATGCCATTGCTATTGGAGCAACAG -3'

Sequencing Primer
(F):5'- GTGATACTGCTCCCAAGATACTTAG -3'
(R):5'- TGTCACAGTAGCGATCCTTAG -3'

Posted On

2013-09-03