Mutagenetix > Incidental Mutation

Incidental Mutation 'R1829:Cacnb2'

207069

Institutional Source

Beutler Lab

Gene Symbol

Cacnb2

Ensembl Gene

ENSMUSG00000057914

Gene Name

calcium channel, voltage-dependent, beta 2 subunit

Synonyms

Cchb2, Cavbeta2

MMRRC Submission

039856-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14603088-14987908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14985964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 619 (Q619L)

Ref Sequence

ENSEMBL: ENSMUSP00000110371 (fasta)

Gene Model

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

AlphaFold

Q8CC27

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114719
AA Change: Q575L

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110367
Gene: ENSMUSG00000057914
AA Change: Q575L

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: Q619L

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: Q619L

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: Q569L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141221
Gene: ENSMUSG00000057914
AA Change: Q569L

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

Validation Efficiency

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7420426K07Rik	T	A	9: 98,903,393 (GRCm38)	I37N	possibly damaging	Het
Aars	A	T	8: 111,042,706 (GRCm38)	D287V	probably damaging	Het
Abca12	A	G	1: 71,295,029 (GRCm38)	C1105R	probably benign	Het
Abca8b	T	A	11: 109,942,341 (GRCm38)	N1178Y	probably damaging	Het
Abhd12	A	G	2: 150,843,398 (GRCm38)	L189P	probably damaging	Het
Acap2	G	T	16: 31,110,934 (GRCm38)	N435K	probably damaging	Het
Adam6b	G	T	12: 113,489,925 (GRCm38)	G121C	probably damaging	Het
Adgrb1	C	A	15: 74,580,586 (GRCm38)	C200*	probably null	Het
Agbl5	T	C	5: 30,903,064 (GRCm38)	S730P	possibly damaging	Het
Ahsg	G	A	16: 22,892,328 (GRCm38)		probably benign	Het
Aldh9a1	A	T	1: 167,361,854 (GRCm38)	K390N	probably benign	Het
Alpk2	T	A	18: 65,294,094 (GRCm38)	H1857L	possibly damaging	Het
Apip	T	A	2: 103,088,662 (GRCm38)	N102K	probably benign	Het
Asxl2	T	C	12: 3,457,125 (GRCm38)	S106P	probably damaging	Het
Atp2b2	G	T	6: 113,773,368 (GRCm38)	R677S	probably damaging	Het
Barhl1	A	C	2: 28,909,845 (GRCm38)	M256R	probably damaging	Het
BC025446	T	G	15: 75,216,756 (GRCm38)		probably null	Het
BC052040	G	T	2: 115,642,692 (GRCm38)	R101L	possibly damaging	Het
Ccdc137	C	T	11: 120,458,212 (GRCm38)	P23L	probably benign	Het
Cdh11	A	T	8: 102,634,641 (GRCm38)	N688K	possibly damaging	Het
Cdh18	C	T	15: 23,173,852 (GRCm38)	P51S	probably damaging	Het
Cfhr1	A	T	1: 139,553,600 (GRCm38)	Y181N	probably damaging	Het
Chmp3	A	G	6: 71,560,939 (GRCm38)	D50G	probably benign	Het
Crem	T	C	18: 3,295,037 (GRCm38)		probably null	Het
Cyb561a3	G	A	19: 10,582,393 (GRCm38)	W27*	probably null	Het
Cyp2d12	C	A	15: 82,558,056 (GRCm38)	N297K	possibly damaging	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dnah12	T	C	14: 26,773,023 (GRCm38)	L1346P	probably damaging	Het
Dnah12	T	A	14: 26,800,075 (GRCm38)	N1948K	probably damaging	Het
Dsp	T	G	13: 38,193,195 (GRCm38)	L1652R	probably damaging	Het
Dstyk	G	A	1: 132,449,595 (GRCm38)	S66N	probably benign	Het
Ehhadh	T	C	16: 21,762,178 (GRCm38)	E688G	probably damaging	Het
Emsy	T	A	7: 98,602,729 (GRCm38)	H688L	possibly damaging	Het
Emsy	G	T	7: 98,602,730 (GRCm38)	H688N	possibly damaging	Het
Endod1	A	G	9: 14,356,926 (GRCm38)	L421P	probably damaging	Het
Fam222b	C	T	11: 78,155,035 (GRCm38)	P346L	probably damaging	Het
Fam3c	G	A	6: 22,309,437 (GRCm38)	R182W	probably damaging	Het
Gck	T	C	11: 5,910,984 (GRCm38)	D29G	probably damaging	Het
Gm10320	C	A	13: 98,489,699 (GRCm38)	R59L	probably damaging	Het
Gm11127	G	T	17: 36,058,004 (GRCm38)	F61L	probably damaging	Het
Gm21798	C	T	15: 64,817,826 (GRCm38)		probably benign	Het
Gm9376	A	G	14: 118,267,545 (GRCm38)	T130A	possibly damaging	Het
Gpr153	T	A	4: 152,282,392 (GRCm38)	I334N	possibly damaging	Het
Greb1l	T	C	18: 10,509,314 (GRCm38)	L542P	probably damaging	Het
Hacl1	T	C	14: 31,640,534 (GRCm38)	E52G	probably benign	Het
Ice2	A	G	9: 69,407,353 (GRCm38)	Y128C	probably damaging	Het
Ikzf2	T	A	1: 69,542,287 (GRCm38)	I121L	probably benign	Het
Ipcef1	C	T	10: 6,919,900 (GRCm38)	A167T	probably benign	Het
Jakmip2	T	A	18: 43,582,080 (GRCm38)	D127V	possibly damaging	Het
Jph4	T	C	14: 55,114,911 (GRCm38)	T122A	probably damaging	Het
Kcns2	A	G	15: 34,838,803 (GRCm38)	E104G	probably damaging	Het
Lars2	A	C	9: 123,431,917 (GRCm38)	R384S	probably benign	Het
Lsmem1	T	A	12: 40,185,408 (GRCm38)	H3L	possibly damaging	Het
Lsmem1	G	T	12: 40,185,409 (GRCm38)	H3N	possibly damaging	Het
Mfhas1	C	G	8: 35,590,248 (GRCm38)	R626G	probably benign	Het
Mfhas1	A	C	8: 35,590,068 (GRCm38)	S566R	probably benign	Het
Mgam	A	G	6: 40,666,892 (GRCm38)	T585A	probably damaging	Het
Mmp25	T	C	17: 23,640,023 (GRCm38)	K185E	probably benign	Het
Mtch1	T	C	17: 29,338,776 (GRCm38)	I243V	probably damaging	Het
Mtcp1	A	T	X: 75,411,665 (GRCm38)	Y25*	probably null	Het
Mybl2	A	G	2: 163,059,583 (GRCm38)	T35A	probably benign	Het
Myh11	T	C	16: 14,223,880 (GRCm38)	E736G	probably damaging	Het
Myh2	T	C	11: 67,176,559 (GRCm38)	I224T	probably damaging	Het
Mymx	T	C	17: 45,601,833 (GRCm38)		probably benign	Het
Nek10	A	G	14: 14,863,454 (GRCm38)		probably null	Het
Nsd1	A	T	13: 55,246,369 (GRCm38)	K697N	probably damaging	Het
Nynrin	A	G	14: 55,872,947 (GRCm38)	D1837G	possibly damaging	Het
Olfr115	G	A	17: 37,610,277 (GRCm38)	T158I	probably benign	Het
Olfr424	T	A	1: 174,137,194 (GRCm38)	I150N	probably benign	Het
Olfr510	T	A	7: 108,667,644 (GRCm38)	I76N	probably benign	Het
Olfr593	A	T	7: 103,211,886 (GRCm38)	T9S	probably benign	Het
Olfr701	A	G	7: 106,819,007 (GRCm38)	H308R	probably benign	Het
Phf19	T	C	2: 34,911,769 (GRCm38)	T10A	probably benign	Het
Pkd1	A	T	17: 24,565,584 (GRCm38)	H368L	probably benign	Het
Plscr2	A	G	9: 92,290,755 (GRCm38)	R156G	probably damaging	Het
Ppp1r42	G	A	1: 10,000,086 (GRCm38)	R61C	probably benign	Het
Pptc7	T	G	5: 122,313,616 (GRCm38)	V45G	probably damaging	Het
Prlhr	G	A	19: 60,467,429 (GRCm38)	T233I	probably damaging	Het
Reps1	C	T	10: 18,107,714 (GRCm38)	T435I	probably damaging	Het
Ret	T	A	6: 118,153,951 (GRCm38)	T1084S	probably damaging	Het
Rgl2	T	A	17: 33,933,621 (GRCm38)	M402K	probably benign	Het
Rp2	A	G	X: 20,376,915 (GRCm38)	K43R	probably benign	Het
Rundc3b	A	T	5: 8,579,117 (GRCm38)	W95R	probably damaging	Het
Samd9l	T	C	6: 3,375,107 (GRCm38)	D718G	possibly damaging	Het
Scnn1b	G	A	7: 121,902,845 (GRCm38)	R242H	probably benign	Het
Smad4	G	T	18: 73,641,894 (GRCm38)	Q445K	probably benign	Het
Smchd1	G	T	17: 71,370,337 (GRCm38)	P1486T	probably damaging	Het
Snx25	G	T	8: 46,035,632 (GRCm38)	N895K	possibly damaging	Het
Sox2	A	G	3: 34,650,741 (GRCm38)	D109G	probably damaging	Het
Stfa2	A	T	16: 36,405,202 (GRCm38)	N38K	probably damaging	Het
Stfa2	C	A	16: 36,405,211 (GRCm38)	E35D	possibly damaging	Het
Stfa3	A	G	16: 36,450,661 (GRCm38)	L87P	probably damaging	Het
Strbp	T	C	2: 37,640,909 (GRCm38)	D111G	possibly damaging	Het
Supt20	C	A	3: 54,727,658 (GRCm38)		probably benign	Het
Svep1	A	G	4: 58,096,310 (GRCm38)	Y1437H	possibly damaging	Het
Tbx4	T	A	11: 85,911,920 (GRCm38)		probably null	Het
Tmem117	A	T	15: 95,094,551 (GRCm38)	N364I	probably damaging	Het
Tmem8	T	C	17: 26,122,220 (GRCm38)	Y766H	probably damaging	Het
Trat1	T	C	16: 48,761,379 (GRCm38)	E45G	probably damaging	Het
Trpc2	G	A	7: 102,084,119 (GRCm38)	D92N	probably damaging	Het
Trpm1	G	A	7: 64,226,782 (GRCm38)	D528N	probably damaging	Het
Ttll9	A	G	2: 153,000,236 (GRCm38)	S337G	possibly damaging	Het
Utrn	A	T	10: 12,475,274 (GRCm38)	I355N	probably damaging	Het
Vangl1	A	G	3: 102,163,466 (GRCm38)	S385P	probably benign	Het
Vmn1r209	A	G	13: 22,806,239 (GRCm38)	S94P	possibly damaging	Het
Vmn2r28	T	A	7: 5,493,811 (GRCm38)	Q14L	probably benign	Het
Vps45	A	G	3: 96,047,245 (GRCm38)		probably null	Het
Wdr48	T	C	9: 119,904,330 (GRCm38)	V81A	probably benign	Het
Xpnpep2	A	G	X: 48,125,353 (GRCm38)	N476S	probably benign	Het
Zbtb41	A	T	1: 139,446,922 (GRCm38)	K707*	probably null	Het
Zfp442	A	C	2: 150,409,063 (GRCm38)	C306W	probably damaging	Het
Zfp811	T	C	17: 32,798,142 (GRCm38)	N307S	possibly damaging	Het
Zfp976	A	G	7: 42,616,311 (GRCm38)	W17R	probably damaging	Het
Zyg11b	T	C	4: 108,266,093 (GRCm38)	T226A	possibly damaging	Het

Other mutations in Cacnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Cacnb2	APN	2	14,984,270 (GRCm38)	missense	possibly damaging	0.95
IGL01806:Cacnb2	APN	2	14,614,268 (GRCm38)	missense	probably damaging	1.00
IGL01939:Cacnb2	APN	2	14,971,569 (GRCm38)	missense	probably benign	0.16
IGL02941:Cacnb2	APN	2	14,958,829 (GRCm38)	missense	probably benign	0.00
PIT1430001:Cacnb2	UTSW	2	14,971,601 (GRCm38)	nonsense	probably null
PIT4498001:Cacnb2	UTSW	2	14,874,819 (GRCm38)	nonsense	probably null
PIT4508001:Cacnb2	UTSW	2	14,984,419 (GRCm38)	missense	probably benign	0.00
R0095:Cacnb2	UTSW	2	14,958,775 (GRCm38)	missense	probably damaging	1.00
R0731:Cacnb2	UTSW	2	14,985,706 (GRCm38)	missense	possibly damaging	0.95
R1521:Cacnb2	UTSW	2	14,614,352 (GRCm38)	missense	probably benign	0.18
R2174:Cacnb2	UTSW	2	14,958,767 (GRCm38)	missense	probably benign	0.21
R2471:Cacnb2	UTSW	2	14,984,314 (GRCm38)	missense	probably damaging	1.00
R2473:Cacnb2	UTSW	2	14,984,314 (GRCm38)	missense	probably damaging	1.00
R3801:Cacnb2	UTSW	2	14,824,263 (GRCm38)	missense	possibly damaging	0.85
R3831:Cacnb2	UTSW	2	14,981,425 (GRCm38)	missense	probably damaging	1.00
R3832:Cacnb2	UTSW	2	14,981,425 (GRCm38)	missense	probably damaging	1.00
R3833:Cacnb2	UTSW	2	14,981,425 (GRCm38)	missense	probably damaging	1.00
R3981:Cacnb2	UTSW	2	14,604,503 (GRCm38)	missense	probably benign
R4231:Cacnb2	UTSW	2	14,981,440 (GRCm38)	missense	probably damaging	1.00
R4426:Cacnb2	UTSW	2	14,975,215 (GRCm38)	nonsense	probably null
R4569:Cacnb2	UTSW	2	14,986,000 (GRCm38)	missense	possibly damaging	0.94
R4815:Cacnb2	UTSW	2	14,874,780 (GRCm38)	missense	probably damaging	1.00
R4911:Cacnb2	UTSW	2	14,981,340 (GRCm38)	missense	possibly damaging	0.83
R5189:Cacnb2	UTSW	2	14,986,038 (GRCm38)	missense	possibly damaging	0.56
R6114:Cacnb2	UTSW	2	14,975,201 (GRCm38)	missense	possibly damaging	0.88
R6158:Cacnb2	UTSW	2	14,985,601 (GRCm38)	missense	possibly damaging	0.62
R6530:Cacnb2	UTSW	2	14,975,167 (GRCm38)	missense	probably damaging	1.00
R6612:Cacnb2	UTSW	2	14,975,149 (GRCm38)	missense	probably benign	0.41
R6882:Cacnb2	UTSW	2	14,824,299 (GRCm38)	missense	probably benign	0.00
R6889:Cacnb2	UTSW	2	14,986,015 (GRCm38)	missense	possibly damaging	0.55
R7804:Cacnb2	UTSW	2	14,968,037 (GRCm38)	missense	probably benign	0.08
R7820:Cacnb2	UTSW	2	14,960,666 (GRCm38)	missense	probably damaging	1.00
R7971:Cacnb2	UTSW	2	14,971,598 (GRCm38)	missense	possibly damaging	0.51
R7980:Cacnb2	UTSW	2	14,604,515 (GRCm38)	missense	probably benign
R7993:Cacnb2	UTSW	2	14,963,920 (GRCm38)	missense	probably benign	0.16
R8762:Cacnb2	UTSW	2	14,967,948 (GRCm38)	missense	possibly damaging	0.71
R8868:Cacnb2	UTSW	2	14,984,269 (GRCm38)	missense	probably benign	0.41
R9147:Cacnb2	UTSW	2	14,967,962 (GRCm38)	missense	possibly damaging	0.89
R9148:Cacnb2	UTSW	2	14,967,962 (GRCm38)	missense	possibly damaging	0.89
R9211:Cacnb2	UTSW	2	14,874,497 (GRCm38)	missense	unknown
R9521:Cacnb2	UTSW	2	14,604,327 (GRCm38)	start gained	probably benign
R9773:Cacnb2	UTSW	2	14,971,641 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTCTGAAACCCAAGAGAGC -3'
(R):5'- ATCACATATGGTTGCAATGTAACCC -3'

Sequencing Primer
(F):5'- AGACTCTGCCTACGTGGAG -3'
(R):5'- CCCCCAAAGATTTTGCTTAAGG -3'

Posted On

2014-06-23