Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:Cacnb4'

461091

Institutional Source

Beutler Lab

Gene Symbol

Cacnb4

Ensembl Gene

ENSMUSG00000017412

Gene Name

calcium channel, voltage-dependent, beta 4 subunit

Synonyms

Cchb4, 3110038O15Rik

MMRRC Submission

044110-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R5913 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

52318332-52566816 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 52324796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078324] [ENSMUST00000102760] [ENSMUST00000102761] [ENSMUST00000178799]

AlphaFold

Q8R0S4

Predicted Effect

probably benign
Transcript: ENSMUST00000078324

SMART Domains

Protein: ENSMUSP00000077438
Gene: ENSMUSG00000017412

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	49	90	5.4e-27	PFAM
SH3	94	159	4.96e-2	SMART
low complexity region	172	189	N/A	INTRINSIC
low complexity region	193	206	N/A	INTRINSIC
GuKc	217	398	3.46e-37	SMART
low complexity region	465	481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102760

SMART Domains

Protein: ENSMUSP00000099821
Gene: ENSMUSG00000017412

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	16	57	9.4e-28	PFAM
SH3	61	126	4.96e-2	SMART
low complexity region	139	156	N/A	INTRINSIC
low complexity region	160	173	N/A	INTRINSIC
GuKc	184	365	3.46e-37	SMART
low complexity region	432	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102761

SMART Domains

Protein: ENSMUSP00000099822
Gene: ENSMUSG00000017412

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	3	44	4.8e-27	PFAM
SH3	48	113	4.96e-2	SMART
low complexity region	126	143	N/A	INTRINSIC
low complexity region	147	160	N/A	INTRINSIC
GuKc	171	352	3.46e-37	SMART
low complexity region	419	435	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143821

Predicted Effect

probably benign
Transcript: ENSMUST00000178799

SMART Domains

Protein: ENSMUSP00000136811
Gene: ENSMUSG00000017412

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	49	90	1.3e-24	PFAM
SH3	94	159	4.96e-2	SMART
low complexity region	172	189	N/A	INTRINSIC
GuKc	217	398	3.46e-37	SMART
low complexity region	465	481	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous mutants have lethargic behavior, unstable gait and seizures, with peripheral motor nerves showing reduced conduction velocity and prolonged distal latency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,718,773 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,609 (GRCm39)	H457L	probably benign	Het
Armc3	A	G	2: 19,314,858 (GRCm39)	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,187,612 (GRCm39)	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,642,154 (GRCm39)	M366R	possibly damaging	Het
Bora	C	T	14: 99,305,948 (GRCm39)	S439L	probably benign	Het
Carm1	T	C	9: 21,498,848 (GRCm39)	S529P	probably benign	Het
Cd200r1	A	G	16: 44,610,034 (GRCm39)	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,798,742 (GRCm39)	S22P	probably benign	Het
Celf2	A	T	2: 7,085,969 (GRCm39)	M1K	probably null	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep95	T	C	11: 106,709,335 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,131,760 (GRCm39)	R366K	probably benign	Het
Csmd2	A	G	4: 128,445,781 (GRCm39)	K3284E	probably benign	Het
Csn3	T	A	5: 88,075,470 (GRCm39)	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,879,691 (GRCm39)	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,101,671 (GRCm39)	W55*	probably null	Het
Cyp2u1	G	A	3: 131,096,860 (GRCm39)		probably benign	Het
Dmgdh	A	T	13: 93,888,831 (GRCm39)	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,339,256 (GRCm39)	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,312,018 (GRCm39)	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365 (GRCm39)	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035 (GRCm39)	W224*	probably null	Het
Gm37240	T	C	3: 84,874,905 (GRCm39)		probably benign	Het
Gpr3	A	G	4: 132,938,489 (GRCm39)	V61A	probably damaging	Het
Gulo	T	C	14: 66,237,470 (GRCm39)		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,462,037 (GRCm39)	I968K	possibly damaging	Het
Hmox2	G	T	16: 4,582,732 (GRCm39)	R155L	probably damaging	Het
Ifnlr1	C	A	4: 135,432,580 (GRCm39)	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,432,581 (GRCm39)	Q339L	probably damaging	Het
Irf4	T	A	13: 30,941,741 (GRCm39)	S365T	probably benign	Het
Klrb1a	T	G	6: 128,595,472 (GRCm39)	D124A	probably damaging	Het
Macf1	A	T	4: 123,369,832 (GRCm39)	I78N	probably damaging	Het
Mctp1	G	T	13: 76,907,944 (GRCm39)		probably null	Het
Muc21	C	T	17: 35,934,123 (GRCm39)		probably benign	Het
Mxra8	A	T	4: 155,927,760 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,327,902 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
P2ry13	T	C	3: 59,116,786 (GRCm39)	T331A	probably benign	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,607,707 (GRCm39)	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,889,045 (GRCm39)	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,891,142 (GRCm39)	R717G	probably benign	Het
Pcif1	C	A	2: 164,726,412 (GRCm39)		probably benign	Het
Pkd1l1	T	C	11: 8,813,849 (GRCm39)	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,064,027 (GRCm39)	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,307,152 (GRCm39)	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,519,368 (GRCm39)	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,993,425 (GRCm39)	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 72,036,907 (GRCm39)	P381L	probably benign	Het
Slc8a1	T	A	17: 81,955,431 (GRCm39)	I536F	probably damaging	Het
Src	T	A	2: 157,307,950 (GRCm39)		probably null	Het
Sybu	T	A	15: 44,651,017 (GRCm39)	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,929 (GRCm39)	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,939,302 (GRCm39)	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,858,209 (GRCm39)	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,056,988 (GRCm39)	L49Q	probably damaging	Het
Trem2	T	A	17: 48,653,661 (GRCm39)		probably benign	Het
Tspyl3	T	A	2: 153,066,636 (GRCm39)	M201L	probably benign	Het
Ttl	A	G	2: 128,917,961 (GRCm39)	D141G	probably benign	Het
Ube2z	A	G	11: 95,951,889 (GRCm39)	V153A	possibly damaging	Het
Ubr3	A	G	2: 69,851,559 (GRCm39)	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,086,229 (GRCm39)	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Vmo1	A	T	11: 70,405,241 (GRCm39)	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,798,269 (GRCm39)	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765 (GRCm39)	S425R	possibly damaging	Het

Other mutations in Cacnb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Cacnb4	APN	2	52,367,724 (GRCm39)	missense	possibly damaging	0.46
IGL01328:Cacnb4	APN	2	52,354,637 (GRCm39)	missense	probably damaging	1.00
IGL01801:Cacnb4	APN	2	52,324,723 (GRCm39)	missense	probably benign	0.15
IGL01992:Cacnb4	APN	2	52,355,682 (GRCm39)	missense	probably damaging	1.00
IGL03030:Cacnb4	APN	2	52,364,894 (GRCm39)	missense	probably damaging	1.00
R0789:Cacnb4	UTSW	2	52,341,895 (GRCm39)	missense	probably damaging	1.00
R1069:Cacnb4	UTSW	2	52,345,623 (GRCm39)	missense	probably damaging	1.00
R1646:Cacnb4	UTSW	2	52,364,912 (GRCm39)	missense	possibly damaging	0.87
R2050:Cacnb4	UTSW	2	52,359,598 (GRCm39)	missense	probably damaging	0.99
R3939:Cacnb4	UTSW	2	52,359,501 (GRCm39)	missense	probably damaging	1.00
R3941:Cacnb4	UTSW	2	52,359,501 (GRCm39)	missense	probably damaging	1.00
R4455:Cacnb4	UTSW	2	52,355,665 (GRCm39)	missense	probably damaging	1.00
R4497:Cacnb4	UTSW	2	52,367,783 (GRCm39)	missense	probably damaging	1.00
R4707:Cacnb4	UTSW	2	52,364,927 (GRCm39)	missense	probably benign	0.45
R4824:Cacnb4	UTSW	2	52,565,822 (GRCm39)	missense	probably benign	0.00
R4957:Cacnb4	UTSW	2	52,448,303 (GRCm39)	missense	probably damaging	0.99
R6372:Cacnb4	UTSW	2	52,324,679 (GRCm39)	missense	probably benign	0.00
R6945:Cacnb4	UTSW	2	52,364,966 (GRCm39)	missense	probably damaging	1.00
R7557:Cacnb4	UTSW	2	52,359,579 (GRCm39)	missense	probably damaging	1.00
R7821:Cacnb4	UTSW	2	52,324,520 (GRCm39)	missense	possibly damaging	0.91
R8015:Cacnb4	UTSW	2	52,354,655 (GRCm39)	missense	probably damaging	1.00
R8043:Cacnb4	UTSW	2	52,355,663 (GRCm39)	missense	probably damaging	1.00
R8181:Cacnb4	UTSW	2	52,364,997 (GRCm39)	missense	probably benign	0.00
R8376:Cacnb4	UTSW	2	52,354,665 (GRCm39)	nonsense	probably null
R8466:Cacnb4	UTSW	2	52,354,679 (GRCm39)	missense	probably damaging	1.00
R8765:Cacnb4	UTSW	2	52,327,001 (GRCm39)	missense	probably damaging	0.99
R9018:Cacnb4	UTSW	2	52,324,706 (GRCm39)	missense	probably benign	0.26
R9574:Cacnb4	UTSW	2	52,327,016 (GRCm39)	missense	probably damaging	1.00
R9624:Cacnb4	UTSW	2	52,364,942 (GRCm39)	missense	probably benign	0.09
R9778:Cacnb4	UTSW	2	52,359,615 (GRCm39)	missense	probably damaging	0.96
Z1176:Cacnb4	UTSW	2	52,565,824 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGTAATCTTCTTCCACCAGAG -3'
(R):5'- TTCCACAGGAAGCACAGTCATTC -3'

Sequencing Primer
(F):5'- CCAGAGGGTAGTGGTCTCG -3'
(R):5'- GGAAGCACAGTCATTCAATATCAG -3'

Posted On

2017-02-28