Mutagenetix > Incidental Mutation

Incidental Mutation 'R9166:Cacnb1'

696081

Institutional Source

Beutler Lab

Gene Symbol

Cacnb1

Ensembl Gene

ENSMUSG00000020882

Gene Name

calcium channel, voltage-dependent, beta 1 subunit

Synonyms

Cchb1, Cchlb1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97892339-97913860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97910534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 48 (D48V)

Ref Sequence

ENSEMBL: ENSMUSP00000017552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017552] [ENSMUST00000092736] [ENSMUST00000103144] [ENSMUST00000107561] [ENSMUST00000107562]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000017552
AA Change: D48V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: D48V

Domain	Start	End	E-Value	Type
low complexity region	41	53	N/A	INTRINSIC
Pfam:VGCC_beta4Aa_N	58	99	1.1e-26	PFAM
SH3	103	167	2.98e-2	SMART
low complexity region	182	193	N/A	INTRINSIC
GuKc	228	409	5.57e-41	SMART
low complexity region	412	443	N/A	INTRINSIC
low complexity region	523	543	N/A	INTRINSIC
low complexity region	549	557	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000092736
AA Change: D48V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090412
Gene: ENSMUSG00000020882
AA Change: D48V

Domain	Start	End	E-Value	Type
low complexity region	41	53	N/A	INTRINSIC
Pfam:VGCC_beta4Aa_N	58	99	4.7e-26	PFAM
SH3	103	167	2.98e-2	SMART
low complexity region	182	193	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
GuKc	273	454	5.57e-41	SMART
low complexity region	457	488	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000103144
AA Change: D48V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: D48V

Domain	Start	End	E-Value	Type
low complexity region	41	53	N/A	INTRINSIC
Pfam:VGCC_beta4Aa_N	58	99	1.4e-25	PFAM
SH3	103	167	2.98e-2	SMART
low complexity region	182	193	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
GuKc	273	454	5.57e-41	SMART
low complexity region	457	488	N/A	INTRINSIC
low complexity region	603	623	N/A	INTRINSIC
low complexity region	629	637	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107561

SMART Domains

Protein: ENSMUSP00000103186
Gene: ENSMUSG00000020882

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	11	52	8e-27	PFAM
SH3	56	120	2.98e-2	SMART
low complexity region	135	146	N/A	INTRINSIC
low complexity region	172	187	N/A	INTRINSIC
GuKc	226	407	5.57e-41	SMART
low complexity region	410	441	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107562
AA Change: D48V

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

SMART Domains

Protein: ENSMUSP00000103187
Gene: ENSMUSG00000020882
AA Change: D48V

Domain	Start	End	E-Value	Type
low complexity region	41	53	N/A	INTRINSIC
Pfam:VGCC_beta4Aa_N	58	99	4.2e-26	PFAM
SH3	103	167	2.98e-2	SMART
low complexity region	182	193	N/A	INTRINSIC
GuKc	228	409	5.57e-41	SMART
low complexity region	412	443	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel 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. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant animals have reduced muscle mass, thin limbs, a curved spine, and flexed necks and extremeties. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,853,046 (GRCm39)	L30P	possibly damaging	Het
Adgrb1	A	C	15: 74,420,475 (GRCm39)	M875L	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd13c	T	A	3: 157,705,357 (GRCm39)	S427T	probably benign	Het
Aopep	G	A	13: 63,318,862 (GRCm39)		probably null	Het
Ap3b1	A	C	13: 94,608,236 (GRCm39)	Y569S	probably damaging	Het
Bco2	A	G	9: 50,447,667 (GRCm39)	V352A	probably benign	Het
Bltp1	T	A	3: 37,041,516 (GRCm39)	N2630K	probably damaging	Het
Cdr2l	C	A	11: 115,283,537 (GRCm39)	Q132K	probably benign	Het
Chrd	T	C	16: 20,554,572 (GRCm39)	M377T	probably benign	Het
Coq7	T	C	7: 118,109,365 (GRCm39)	T228A	unknown	Het
D7Ertd443e	G	A	7: 133,900,048 (GRCm39)	T438I	probably benign	Het
Dlc1	C	T	8: 37,066,589 (GRCm39)	E15K	probably damaging	Het
Dlgap5	C	T	14: 47,651,206 (GRCm39)	R109Q	probably damaging	Het
Dysf	T	C	6: 84,126,959 (GRCm39)	V1359A	probably damaging	Het
E2f7	C	T	10: 110,618,085 (GRCm39)	P717S	probably benign	Het
Elmo2	T	C	2: 165,132,438 (GRCm39)	D669G	probably benign	Het
Epha6	A	G	16: 60,425,238 (GRCm39)	V125A	probably benign	Het
Erg	G	T	16: 95,190,807 (GRCm39)	H119N	probably benign	Het
Fam13b	T	C	18: 34,595,252 (GRCm39)	S371G	probably benign	Het
Fancg	G	C	4: 43,006,800 (GRCm39)	Q297E	probably benign	Het
Gas2	A	G	7: 51,586,323 (GRCm39)	E145G	possibly damaging	Het
Gas7	T	C	11: 67,561,446 (GRCm39)	V218A	probably benign	Het
Gm9970	A	G	5: 31,398,345 (GRCm39)	S78P	unknown	Het
Hectd4	A	C	5: 121,446,690 (GRCm39)	D259A	probably damaging	Het
Hoxb2	T	G	11: 96,244,339 (GRCm39)	S317A	probably damaging	Het
Hspg2	T	C	4: 137,270,185 (GRCm39)	L2381P	probably damaging	Het
Irf4	A	T	13: 30,941,484 (GRCm39)	H280L	probably benign	Het
Irf7	A	G	7: 140,844,666 (GRCm39)	V142A	probably benign	Het
Kat7	T	C	11: 95,190,928 (GRCm39)	I94V	probably benign	Het
Kera	T	A	10: 97,448,830 (GRCm39)	I350K	possibly damaging	Het
Klf15	T	C	6: 90,443,952 (GRCm39)	S176P	probably benign	Het
Lrrc59	C	A	11: 94,522,959 (GRCm39)	T53N	probably benign	Het
Morn5	T	C	2: 35,945,024 (GRCm39)	Y83H	probably damaging	Het
Myef2l	A	G	3: 10,153,849 (GRCm39)	N206S	probably benign	Het
Neil3	A	C	8: 54,058,722 (GRCm39)	M273R	probably damaging	Het
Ngfr	A	T	11: 95,465,047 (GRCm39)	V267E	possibly damaging	Het
Nudc	T	C	4: 133,273,165 (GRCm39)	D11G	probably damaging	Het
Or2t1	A	T	14: 14,329,059 (GRCm38)	D316V	probably benign	Het
Or4a81	T	A	2: 89,619,291 (GRCm39)	N135I	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3cg	C	T	12: 32,242,213 (GRCm39)	G966R	probably damaging	Het
Ppfibp1	A	G	6: 146,920,980 (GRCm39)	T573A	probably damaging	Het
Ppp2r5a	C	A	1: 191,128,504 (GRCm39)	R37L	probably benign	Het
Prpf8	T	C	11: 75,387,340 (GRCm39)	F1207S	possibly damaging	Het
Prtg	A	T	9: 72,764,107 (GRCm39)	I527F	probably damaging	Het
Pspc1	A	G	14: 56,999,305 (GRCm39)	M317T	probably damaging	Het
Ptpru	C	T	4: 131,525,180 (GRCm39)	V768I	probably benign	Het
Ptx4	A	G	17: 25,343,546 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,274,842 (GRCm39)		probably null	Het
Rhobtb2	C	A	14: 70,034,703 (GRCm39)	G174V	probably damaging	Het
Sdad1	G	T	5: 92,446,080 (GRCm39)	S285*	probably null	Het
Sema4f	G	T	6: 82,890,626 (GRCm39)	S727*	probably null	Het
Sik1	A	G	17: 32,069,727 (GRCm39)	F241L	probably damaging	Het
Slc8b1	T	C	5: 120,662,096 (GRCm39)	S279P	probably benign	Het
Slco4a1	A	G	2: 180,106,034 (GRCm39)	E72G	probably benign	Het
Smok3c	A	T	5: 138,063,781 (GRCm39)	T423S	possibly damaging	Het
Sorcs3	T	C	19: 48,784,811 (GRCm39)	V1078A	probably benign	Het
Sptb	A	G	12: 76,673,776 (GRCm39)	V337A	probably damaging	Het
Tet2	C	A	3: 133,173,933 (GRCm39)	G1443V	probably damaging	Het
Ticam2	A	T	18: 46,694,048 (GRCm39)	L13H	probably damaging	Het
Tnrc6a	A	G	7: 122,786,624 (GRCm39)	E1562G	probably damaging	Het
Trim24	A	T	6: 37,934,074 (GRCm39)	K742N	probably damaging	Het
Trim56	A	T	5: 137,142,751 (GRCm39)	V255E	probably damaging	Het
Trmt12	A	G	15: 58,744,608 (GRCm39)	E2G	probably benign	Het
Tubd1	A	T	11: 86,452,091 (GRCm39)	T353S	probably benign	Het
Vim	T	C	2: 13,579,556 (GRCm39)	V105A	probably benign	Het
Vmn2r58	A	T	7: 41,513,431 (GRCm39)	V404E	probably damaging	Het
Wdr62	G	A	7: 29,941,874 (GRCm39)	P1115L	probably damaging	Het
Wfdc12	G	T	2: 164,032,193 (GRCm39)	C32*	probably null	Het
Zfp750	T	A	11: 121,403,980 (GRCm39)	R298S	probably damaging	Het

Other mutations in Cacnb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Cacnb1	APN	11	97,913,190 (GRCm39)	missense	possibly damaging	0.50
IGL02633:Cacnb1	APN	11	97,913,199 (GRCm39)	missense	probably damaging	0.98
awkward	UTSW	11	97,896,608 (GRCm39)	missense	probably damaging	1.00
R1037:Cacnb1	UTSW	11	97,895,843 (GRCm39)	utr 3 prime	probably benign
R2101:Cacnb1	UTSW	11	97,896,554 (GRCm39)	missense	probably damaging	1.00
R2363:Cacnb1	UTSW	11	97,903,672 (GRCm39)	missense	possibly damaging	0.87
R4159:Cacnb1	UTSW	11	97,903,100 (GRCm39)	missense	probably damaging	1.00
R4942:Cacnb1	UTSW	11	97,893,809 (GRCm39)	missense	probably damaging	1.00
R5360:Cacnb1	UTSW	11	97,909,097 (GRCm39)	critical splice donor site	probably null
R5653:Cacnb1	UTSW	11	97,900,105 (GRCm39)	critical splice donor site	probably null
R6137:Cacnb1	UTSW	11	97,896,608 (GRCm39)	missense	probably damaging	1.00
R7154:Cacnb1	UTSW	11	97,895,959 (GRCm39)	missense	probably damaging	0.99
R7163:Cacnb1	UTSW	11	97,903,726 (GRCm39)	missense	probably benign	0.20
R7800:Cacnb1	UTSW	11	97,900,121 (GRCm39)	missense	possibly damaging	0.56
R7816:Cacnb1	UTSW	11	97,896,115 (GRCm39)	missense	probably damaging	1.00
R8143:Cacnb1	UTSW	11	97,894,146 (GRCm39)	missense	probably benign	0.00
R8336:Cacnb1	UTSW	11	97,894,119 (GRCm39)	missense	probably benign	0.00
R8889:Cacnb1	UTSW	11	97,901,192 (GRCm39)	missense	probably damaging	1.00
R8892:Cacnb1	UTSW	11	97,901,192 (GRCm39)	missense	probably damaging	1.00
R8933:Cacnb1	UTSW	11	97,896,578 (GRCm39)	missense	probably damaging	0.99
R9067:Cacnb1	UTSW	11	97,896,131 (GRCm39)	missense	probably damaging	1.00
R9087:Cacnb1	UTSW	11	97,893,833 (GRCm39)	missense	possibly damaging	0.91
R9710:Cacnb1	UTSW	11	97,902,197 (GRCm39)	missense	probably benign
R9790:Cacnb1	UTSW	11	97,900,186 (GRCm39)	missense	probably damaging	1.00
R9791:Cacnb1	UTSW	11	97,900,186 (GRCm39)	missense	probably damaging	1.00
Z1176:Cacnb1	UTSW	11	97,913,381 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGTCCCTGAATGAGATGAC -3'
(R):5'- TTCAGGCTAGCCACCTCTATG -3'

Sequencing Primer
(F):5'- TCCCTGAATGAGATGACGCAGG -3'
(R):5'- CTCTATGGAGGAGAAGCTGAGGAC -3'

Posted On

2022-02-07