Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Cacnb4'

408394

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cacnb4

Ensembl Gene

ENSMUSG00000017412

Gene Name

calcium channel, voltage-dependent, beta 4 subunit

Synonyms

Cchb4, 3110038O15Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

52318332-52566816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52364894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 123 (D123G)

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 damaging
Transcript: ENSMUST00000078324
AA Change: D123G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077438
Gene: ENSMUSG00000017412
AA Change: D123G

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: D90G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099821
Gene: ENSMUSG00000017412
AA Change: D90G

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 damaging
Transcript: ENSMUST00000102761
AA Change: D77G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099822
Gene: ENSMUSG00000017412
AA Change: D77G

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 damaging
Transcript: ENSMUST00000178799
AA Change: D123G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136811
Gene: ENSMUSG00000017412
AA Change: D123G

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

Validation Efficiency

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
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankle2	A	G	5: 110,399,476 (GRCm39)	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
F12	A	G	13: 55,569,332 (GRCm39)		probably benign	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gatad2b	G	T	3: 90,249,244 (GRCm39)	G94V	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Or5b109	C	T	19: 13,212,418 (GRCm39)	S268L	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phc3	A	G	3: 30,991,002 (GRCm39)	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pik3ip1	A	G	11: 3,283,259 (GRCm39)	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Pklr	A	T	3: 89,049,963 (GRCm39)	I313F	probably damaging	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,269,311 (GRCm39)	D538G	probably damaging	Het
Rnf44	G	A	13: 54,829,803 (GRCm39)	R312*	probably null	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	probably benign	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
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
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

Posted On

2016-08-02