Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Cacnb4'

381623

Institutional Source

Beutler Lab

Gene Symbol

Cacnb4

Ensembl Gene

ENSMUSG00000017412

Gene Name

calcium channel, voltage-dependent, beta 4 subunit

Synonyms

Cchb4, 3110038O15Rik

MMRRC Submission

042554-MU

Accession Numbers

Essential gene?

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

Stock #

R4957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52318332-52566816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52448303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 8 (H8R)

Ref Sequence

ENSEMBL: ENSMUSP00000099821 (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 damaging
Transcript: ENSMUST00000102760
AA Change: H8R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099821
Gene: ENSMUSG00000017412
AA Change: H8R

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: ENSMUST00000132322

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

Meta Mutation Damage Score

0.0729

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
6820408C15Rik	T	A	2: 152,286,013 (GRCm39)	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,231,786 (GRCm39)	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Ccdc150	T	A	1: 54,404,027 (GRCm39)		probably benign	Het
Cd74	A	G	18: 60,942,109 (GRCm39)	N113D	probably benign	Het
Cdc25b	T	C	2: 131,035,525 (GRCm39)	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,759,315 (GRCm39)	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,760,547 (GRCm39)	I310T	probably damaging	Het
Creb5	A	T	6: 53,670,907 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,935,231 (GRCm39)	Q460R	probably benign	Het
Dnah17	A	T	11: 117,965,124 (GRCm39)	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,289,120 (GRCm39)	H215L	probably damaging	Het
Enkd1	A	G	8: 106,431,121 (GRCm39)	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892 (GRCm39)	A407V	probably damaging	Het
Ercc3	G	T	18: 32,376,170 (GRCm39)	G130W	probably damaging	Het
Fbxl8	A	G	8: 105,994,827 (GRCm39)	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099 (GRCm39)	N339K	probably damaging	Het
Frrs1	G	A	3: 116,678,897 (GRCm39)	D240N	probably benign	Het
Gemin2	A	G	12: 59,063,954 (GRCm39)	S105G	probably benign	Het
Glra1	T	A	11: 55,418,224 (GRCm39)	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,687,503 (GRCm39)	P354S	probably damaging	Het
Gpr15	G	T	16: 58,538,537 (GRCm39)	A184E	probably damaging	Het
Grm7	G	A	6: 111,335,824 (GRCm39)	G745E	probably damaging	Het
H2-T10	T	A	17: 36,428,308 (GRCm39)		probably benign	Het
Hdac5	C	A	11: 102,096,082 (GRCm39)		probably benign	Het
Ift22	G	A	5: 136,937,070 (GRCm39)		probably benign	Het
Ighg3	T	C	12: 113,324,750 (GRCm39)	E34G	unknown	Het
Itga11	A	T	9: 62,674,930 (GRCm39)	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,871 (GRCm39)	V282A	possibly damaging	Het
Maml2	A	G	9: 13,531,572 (GRCm39)	K262R	probably damaging	Het
Mme	T	A	3: 63,250,910 (GRCm39)		probably benign	Het
Mnat1	A	G	12: 73,170,652 (GRCm39)	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,281 (GRCm39)	T34S	possibly damaging	Het
Ncaph	T	C	2: 126,963,177 (GRCm39)	D352G	possibly damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4f17-ps1	C	A	2: 111,358,569 (GRCm39)	N321K	probably benign	Het
Or5m9b	T	A	2: 85,905,854 (GRCm39)	Y257N	probably damaging	Het
Or9g8	T	C	2: 85,607,459 (GRCm39)	F177S	probably damaging	Het
Pcdhb13	T	A	18: 37,577,837 (GRCm39)	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,130,980 (GRCm39)	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,763,577 (GRCm39)	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,281 (GRCm39)	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,583,469 (GRCm39)	T772I	probably benign	Het
Ryr2	T	C	13: 11,799,966 (GRCm39)	Q927R	probably damaging	Het
Scarf1	A	G	11: 75,416,460 (GRCm39)	E634G	probably benign	Het
Scart1	T	C	7: 139,808,435 (GRCm39)	V782A	probably damaging	Het
Skic3	T	G	13: 76,333,232 (GRCm39)		probably null	Het
Slc39a14	A	T	14: 70,553,260 (GRCm39)	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,365,194 (GRCm39)	T176S	probably benign	Het
Srsf10	T	C	4: 135,583,541 (GRCm39)	S2P	probably damaging	Het
Tcam1	T	A	11: 106,173,705 (GRCm39)	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,919,864 (GRCm39)		probably null	Het
Tdrd3	T	A	14: 87,743,223 (GRCm39)	H390Q	probably benign	Het
Tlk2	T	C	11: 105,144,185 (GRCm39)		probably null	Het
Tnc	G	C	4: 63,894,793 (GRCm39)	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 144,973,327 (GRCm39)	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 144,973,328 (GRCm39)	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,889,266 (GRCm39)	E264V	probably damaging	Het
Ugt3a1	G	A	15: 9,365,274 (GRCm39)	V296I	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,947,129 (GRCm39)	E541A	probably benign	Het
Ybx1	A	T	4: 119,136,135 (GRCm39)		probably benign	Het
Zfp39	T	A	11: 58,782,057 (GRCm39)	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,603,904 (GRCm39)	K32*	probably null	Het
Zpbp2	T	A	11: 98,442,150 (GRCm39)		probably null	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
R5913:Cacnb4	UTSW	2	52,324,796 (GRCm39)	intron	probably benign
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'- GCCTTTGCTATCAAGTTAATTGCC -3'
(R):5'- TCTTGCCTGGTAAATCCACAGG -3'

Sequencing Primer
(F):5'- TTTCAGTTAGCTACACACTACACAG -3'
(R):5'- CTTGCCTGGTAAATCCACAGGAATTG -3'

Posted On

2016-04-27