Mutagenetix > Incidental Mutation

Incidental Mutation 'R8181:Cacnb4'

634587

Institutional Source

Beutler Lab

Gene Symbol

Cacnb4

Ensembl Gene

ENSMUSG00000017412

Gene Name

calcium channel, voltage-dependent, beta 4 subunit

Synonyms

Cchb4, 3110038O15Rik

MMRRC Submission

067605-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R8181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52318332-52566816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 52364997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 89 (S89A)

Ref Sequence

ENSEMBL: ENSMUSP00000077438 (fasta)

Gene Model

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

AlphaFold

Q8R0S4

PDB Structure

BETA4 SUBUNIT OF CA2+ CHANNEL [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000078324
AA Change: S89A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077438
Gene: ENSMUSG00000017412
AA Change: S89A

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
AA Change: S56A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099821
Gene: ENSMUSG00000017412
AA Change: S56A

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
AA Change: S43A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099822
Gene: ENSMUSG00000017412
AA Change: S43A

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

probably benign
Transcript: ENSMUST00000178799
AA Change: S89A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136811
Gene: ENSMUSG00000017412
AA Change: S89A

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,774,156 (GRCm39)	S1115N	probably damaging	Het
Abca1	A	G	4: 53,059,303 (GRCm39)	V1551A	probably benign	Het
Adam30	T	C	3: 98,070,291 (GRCm39)	I708T	probably benign	Het
Aknad1	T	A	3: 108,659,328 (GRCm39)	L114H	possibly damaging	Het
Akr1c18	G	A	13: 4,185,262 (GRCm39)	S290L	probably benign	Het
Aldh18a1	G	T	19: 40,545,881 (GRCm39)	D635E	probably benign	Het
Bax	G	T	7: 45,115,698 (GRCm39)	P23Q	probably null	Het
Bhlha15	A	T	5: 144,128,244 (GRCm39)	N119Y	probably damaging	Het
Boll	T	A	1: 55,402,478 (GRCm39)	M1L	probably benign	Het
C2cd2	A	T	16: 97,693,502 (GRCm39)	I123N	probably benign	Het
Calca	A	G	7: 114,234,387 (GRCm39)	C21R	probably benign	Het
Calcr	T	C	6: 3,693,899 (GRCm39)	I325M	probably benign	Het
Card14	T	A	11: 119,212,718 (GRCm39)	F94Y	probably damaging	Het
Chil3	A	C	3: 106,057,203 (GRCm39)	I247S	probably damaging	Het
Clca3b	T	C	3: 144,544,898 (GRCm39)	N363S	probably benign	Het
Cnksr3	A	G	10: 7,070,475 (GRCm39)	V494A	possibly damaging	Het
Cog4	A	G	8: 111,578,717 (GRCm39)		probably null	Het
Crybg1	T	A	10: 43,862,322 (GRCm39)	Y1484F	probably damaging	Het
Dglucy	A	G	12: 100,816,370 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,359,380 (GRCm39)		probably null	Het
Dscaml1	T	A	9: 45,658,140 (GRCm39)	I1637N	possibly damaging	Het
Ercc6	T	A	14: 32,279,905 (GRCm39)	I640N	probably damaging	Het
Esp16	G	T	17: 39,850,707 (GRCm39)	E29*	probably null	Het
Fam149a	T	C	8: 45,834,755 (GRCm39)	I15V	possibly damaging	Het
Flt4	T	A	11: 49,525,723 (GRCm39)	I724N	probably damaging	Het
Glb1	C	T	9: 114,259,429 (GRCm39)	R202C	probably damaging	Het
Gmpr2	C	A	14: 55,910,441 (GRCm39)	S41*	probably null	Het
Golgb1	T	A	16: 36,737,192 (GRCm39)	D2187E	probably damaging	Het
Gpsm2	A	G	3: 108,597,080 (GRCm39)		probably null	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hemgn	A	C	4: 46,396,504 (GRCm39)	M244R	possibly damaging	Het
Hsd3b1	A	T	3: 98,763,453 (GRCm39)	V56E	probably damaging	Het
Jup	A	T	11: 100,267,751 (GRCm39)	I524N	probably damaging	Het
Kdm1b	G	T	13: 47,205,377 (GRCm39)		probably null	Het
Kif11	A	T	19: 37,379,095 (GRCm39)		probably null	Het
Lars1	A	T	18: 42,361,835 (GRCm39)	W591R	probably damaging	Het
Lrtm1	T	A	14: 28,743,894 (GRCm39)	S121T	probably damaging	Het
Med12l	A	C	3: 59,169,389 (GRCm39)	D1593A	probably damaging	Het
Med17	A	T	9: 15,188,928 (GRCm39)	D112E	possibly damaging	Het
Mettl2	T	A	11: 105,019,866 (GRCm39)	F168I	probably benign	Het
Mmp9	A	T	2: 164,792,365 (GRCm39)	D323V	probably damaging	Het
Mpzl2	C	T	9: 44,961,006 (GRCm39)	T214I	probably benign	Het
Ms4a15	T	C	19: 10,958,670 (GRCm39)	H134R	probably benign	Het
Ms4a6d	T	A	19: 11,580,653 (GRCm39)	I2F	probably damaging	Het
Muc3a	G	A	5: 137,244,535 (GRCm39)	P206S	unknown	Het
Nectin2	C	A	7: 19,458,733 (GRCm39)	L359F	probably damaging	Het
Or2y6	C	A	11: 52,104,096 (GRCm39)	C240F	probably damaging	Het
Or4f53	T	A	2: 111,087,918 (GRCm39)	F153I	probably benign	Het
Pgm2	G	T	5: 64,269,467 (GRCm39)	C518F	possibly damaging	Het
Plppr4	A	G	3: 117,116,114 (GRCm39)	V581A	probably damaging	Het
Prkra	G	C	2: 76,469,634 (GRCm39)	L142V	probably damaging	Het
Prpf38a	G	A	4: 108,434,195 (GRCm39)	T74I	probably benign	Het
Ptprs	T	A	17: 56,736,064 (GRCm39)	N635I	probably damaging	Het
Rxfp2	A	G	5: 149,987,201 (GRCm39)	N361D	probably benign	Het
Ryr3	T	G	2: 112,608,588 (GRCm39)	I2351L	probably damaging	Het
Sfmbt2	A	T	2: 10,580,190 (GRCm39)	T618S	probably benign	Het
Six6	A	G	12: 72,986,906 (GRCm39)	D26G	probably damaging	Het
Slc20a1	T	C	2: 129,051,047 (GRCm39)	L568P	probably damaging	Het
Slx4ip	T	A	2: 136,842,104 (GRCm39)	C10S	probably damaging	Het
Sox13	G	T	1: 133,311,498 (GRCm39)	T578K	probably benign	Het
Spire2	A	T	8: 124,088,042 (GRCm39)	S509C	probably damaging	Het
Sptbn4	T	C	7: 27,074,808 (GRCm39)	D1521G	possibly damaging	Het
Sult2a7	T	C	7: 14,204,098 (GRCm39)	T207A	probably benign	Het
Sun2	A	G	15: 79,609,721 (GRCm39)	I708T	probably damaging	Het
Supt5	T	C	7: 28,030,899 (GRCm39)	E44G	unknown	Het
Thsd1	A	G	8: 22,733,022 (GRCm39)	E23G	probably damaging	Het
Ticrr	T	C	7: 79,310,728 (GRCm39)	V214A	possibly damaging	Het
Vmn2r74	A	T	7: 85,605,324 (GRCm39)	F441L	probably damaging	Het
Zfp30	A	G	7: 29,493,080 (GRCm39)	T526A	probably benign	Het
Zfp518a	G	T	19: 40,902,415 (GRCm39)	Q781H	probably damaging	Het
Zmynd11	A	G	13: 9,739,687 (GRCm39)	V434A	probably benign	Het
Zranb1	A	G	7: 132,585,508 (GRCm39)	D652G	probably 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
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
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'- TTAACCGAGGCTCCACACTG -3'
(R):5'- CGGAGTCATCTCTGCAGATC -3'

Sequencing Primer
(F):5'- TTGGCACAGGCTGACTCC -3'
(R):5'- CATCTCTGCAGATCTCGGGATG -3'

Posted On

2020-07-13