Mutagenetix > Incidental Mutation

Incidental Mutation 'R9087:Cacnb1'

690701

Institutional Source

Beutler Lab

Gene Symbol

Cacnb1

Ensembl Gene

ENSMUSG00000020882

Gene Name

calcium channel, voltage-dependent, beta 1 subunit

Synonyms

Cchb1, Cchlb1

MMRRC Submission

068906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97892339-97913860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97893833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 563 (N563S)

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

possibly damaging
Transcript: ENSMUST00000017552
AA Change: N563S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: N563S

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 benign
Transcript: ENSMUST00000092736

SMART Domains

Protein: ENSMUSP00000090412
Gene: ENSMUSG00000020882

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 benign
Transcript: ENSMUST00000103144
AA Change: N643S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: N643S

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 benign
Transcript: ENSMUST00000107562

SMART Domains

Protein: ENSMUSP00000103187
Gene: ENSMUSG00000020882

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: 99.6%
20x: 98.6%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,169 (GRCm39)	D180G	probably damaging	Het
Abcb6	A	T	1: 75,150,211 (GRCm39)	I649K	probably damaging	Het
Ace	T	C	11: 105,872,745 (GRCm39)	F969S	probably damaging	Het
Ankrd26	A	G	6: 118,536,230 (GRCm39)		probably null	Het
Apobec1	A	T	6: 122,558,700 (GRCm39)	L9*	probably null	Het
Atp13a1	A	G	8: 70,256,457 (GRCm39)	D865G	probably damaging	Het
Barhl1	T	C	2: 28,805,231 (GRCm39)	Y154C	probably damaging	Het
Bbx	T	C	16: 50,094,998 (GRCm39)	D106G	probably damaging	Het
Cacna1a	G	A	8: 85,365,432 (GRCm39)	A2192T	probably benign	Het
Capn5	A	T	7: 97,775,531 (GRCm39)	I470N	probably damaging	Het
Cd300c	T	C	11: 114,850,591 (GRCm39)	T71A	probably damaging	Het
Celf4	T	A	18: 25,637,327 (GRCm39)	S223C	probably damaging	Het
Cftr	A	C	6: 18,214,180 (GRCm39)	I119L	possibly damaging	Het
Cmya5	T	C	13: 93,233,711 (GRCm39)	E459G	possibly damaging	Het
Cntn2	A	G	1: 132,453,108 (GRCm39)	Y395H	probably damaging	Het
Cntnap3	T	C	13: 64,899,532 (GRCm39)	D987G	probably damaging	Het
Col5a2	T	A	1: 45,481,818 (GRCm39)	D102V	unknown	Het
Cpeb2	T	C	5: 43,438,461 (GRCm39)	F812L		Het
Cpsf3	T	A	12: 21,358,995 (GRCm39)	L565Q	probably damaging	Het
Ctnnd1	A	C	2: 84,439,922 (GRCm39)	L796R	probably damaging	Het
Dach1	A	G	14: 98,406,267 (GRCm39)	L160P	probably benign	Het
Dennd1a	A	C	2: 37,911,366 (GRCm39)		probably null	Het
Dnah12	T	C	14: 26,546,503 (GRCm39)	I2431T	probably damaging	Het
Ep400	A	T	5: 110,815,430 (GRCm39)	Y2887*	probably null	Het
Erich1	T	C	8: 14,083,623 (GRCm39)	D149G	probably damaging	Het
Fut2	T	C	7: 45,300,493 (GRCm39)	N93S	probably damaging	Het
Gba2	C	T	4: 43,568,304 (GRCm39)	A688T	probably benign	Het
Gcm2	C	G	13: 41,263,406 (GRCm39)	E9Q		Het
Gfod1	T	C	13: 43,353,838 (GRCm39)	E379G	probably damaging	Het
Gfod2	A	G	8: 106,454,851 (GRCm39)	F10L	probably damaging	Het
Gm4871	T	G	5: 144,969,088 (GRCm39)	H75P	possibly damaging	Het
Gtpbp3	T	A	8: 71,944,999 (GRCm39)	V418E	probably benign	Het
Hif1a	T	A	12: 73,989,099 (GRCm39)	I688K	probably benign	Het
Ifi44	G	T	3: 151,451,517 (GRCm39)	S196R	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,911,957 (GRCm39)	K569E	probably benign	Het
Klkb1	G	A	8: 45,728,515 (GRCm39)	Q415*	probably null	Het
L1td1	A	G	4: 98,624,699 (GRCm39)	D298G	possibly damaging	Het
L2hgdh	C	T	12: 69,749,131 (GRCm39)	R252Q	probably benign	Het
Lipc	C	G	9: 70,709,390 (GRCm39)	K452N	probably benign	Het
Lrp10	C	A	14: 54,705,621 (GRCm39)	S270R	probably damaging	Het
Ly6e	T	G	15: 74,829,649 (GRCm39)	L14R	probably benign	Het
Mast3	T	C	8: 71,242,330 (GRCm39)	D90G	possibly damaging	Het
Mmp27	T	C	9: 7,579,858 (GRCm39)	F444S	probably damaging	Het
Mrgpra2b	A	T	7: 47,114,518 (GRCm39)	N71K	probably benign	Het
Nbea	C	A	3: 55,550,157 (GRCm39)		probably null	Het
Ndufb10	A	G	17: 24,943,159 (GRCm39)		probably null	Het
Ndufb9	C	T	15: 58,811,151 (GRCm39)	P146S	probably benign	Het
Nhsl1	T	C	10: 18,407,030 (GRCm39)	V1388A	probably damaging	Het
Nomo1	C	A	7: 45,732,748 (GRCm39)	D1170E	probably benign	Het
Nop2	G	T	6: 125,114,391 (GRCm39)	R254L	probably benign	Het
Nup160	A	T	2: 90,514,429 (GRCm39)	T126S	probably benign	Het
Opa1	A	G	16: 29,437,053 (GRCm39)	D654G	probably damaging	Het
Or1j15	T	C	2: 36,459,345 (GRCm39)	L245P	probably damaging	Het
Or2j6	A	T	7: 139,980,547 (GRCm39)	C137*	probably null	Het
Or51h1	A	G	7: 102,308,964 (GRCm39)	K312R	probably benign	Het
Or52e8b	C	T	7: 104,673,910 (GRCm39)	W92*	probably null	Het
Or5aq1b	A	G	2: 86,902,299 (GRCm39)	Y60H	probably damaging	Het
Or5p68	A	G	7: 107,945,958 (GRCm39)	S77P	probably damaging	Het
Or8b52	A	G	9: 38,576,711 (GRCm39)	L143P	probably damaging	Het
Or8k18	A	G	2: 86,085,380 (GRCm39)	M219T	probably benign	Het
Osbp2	T	A	11: 3,667,976 (GRCm39)	D7V	probably damaging	Het
Osr2	A	T	15: 35,301,010 (GRCm39)	I189F	probably damaging	Het
Pdlim5	A	G	3: 142,058,594 (GRCm39)	V50A	possibly damaging	Het
Pik3r3	A	G	4: 116,148,931 (GRCm39)	N334S	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppfia4	A	G	1: 134,240,326 (GRCm39)	I889T	probably damaging	Het
Prpf38b	T	C	3: 108,811,657 (GRCm39)	K403E	unknown	Het
Rgs20	T	G	1: 4,994,190 (GRCm39)	E31A	possibly damaging	Het
Rpl11	A	T	4: 135,780,000 (GRCm39)	M12K	possibly damaging	Het
Rreb1	C	A	13: 38,115,644 (GRCm39)	T1001K	probably benign	Het
Ruvbl1	A	G	6: 88,474,355 (GRCm39)	K453E	probably benign	Het
Sdc4	A	T	2: 164,270,959 (GRCm39)	V100D	probably benign	Het
Simc1	C	A	13: 54,672,147 (GRCm39)	T165K	probably benign	Het
Slc2a3	A	G	6: 122,717,408 (GRCm39)	V16A	probably benign	Het
Smbd1	A	T	16: 32,627,130 (GRCm39)	S53T	possibly damaging	Het
Smndc1	A	T	19: 53,372,074 (GRCm39)	N113K	possibly damaging	Het
Tas2r139	T	G	6: 42,118,168 (GRCm39)	F100C	probably damaging	Het
Tubgcp5	A	G	7: 55,467,106 (GRCm39)	Y692C	probably damaging	Het
Ube2d2a	T	C	18: 35,933,197 (GRCm39)	I78T	probably benign	Het
Ugt2b37	C	T	5: 87,401,996 (GRCm39)	V212I	probably benign	Het
Wars2	A	G	3: 99,124,063 (GRCm39)	D308G	possibly damaging	Het
Yeats2	G	A	16: 20,030,500 (GRCm39)		probably null	Het
Zfp385a	G	T	15: 103,224,318 (GRCm39)	H219N	possibly damaging	Het
Zfp407	T	C	18: 84,227,982 (GRCm39)	T1876A	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
R9166:Cacnb1	UTSW	11	97,910,534 (GRCm39)	missense	probably damaging	1.00
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'- AAGACACATCTTGGGTGGTGTG -3'
(R):5'- ATCCCGCCAAGACACCTTTG -3'

Sequencing Primer
(F):5'- CTTGGGTGGTGTGCCCCTC -3'
(R):5'- GCCAAGACACCTTTGATGCTG -3'

Posted On

2021-12-30