Mutagenetix > Incidental Mutation

Incidental Mutation 'R9791:Cacnb1'

734632

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 #

R9791 (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 97900186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 324 (D324G)

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: D324G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: D324G

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: D369G

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

SMART Domains

Protein: ENSMUSP00000090412
Gene: ENSMUSG00000020882
AA Change: D369G

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: D369G

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

SMART Domains

Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: D369G

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 damaging
Transcript: ENSMUST00000107561
AA Change: D322G

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

SMART Domains

Protein: ENSMUSP00000103186
Gene: ENSMUSG00000020882
AA Change: D322G

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: D324G

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

SMART Domains

Protein: ENSMUSP00000103187
Gene: ENSMUSG00000020882
AA Change: D324G

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,748,604 (GRCm39)	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,633,185 (GRCm39)	I549N	probably damaging	Het
Agpat2	A	G	2: 26,486,395 (GRCm39)	Y134H	probably damaging	Het
Alms1	A	G	6: 85,596,425 (GRCm39)	D417G	probably benign	Het
Apol11b	T	A	15: 77,519,475 (GRCm39)	I202F	probably benign	Het
Arap1	C	A	7: 101,037,376 (GRCm39)	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,832,445 (GRCm39)		probably null	Het
Asap3	A	T	4: 135,961,914 (GRCm39)	N285I	probably damaging	Het
Aspm	A	T	1: 139,408,375 (GRCm39)	I2421F	probably damaging	Het
Banp	C	A	8: 122,701,285 (GRCm39)	D17E	probably benign	Het
Bsx	T	G	9: 40,788,905 (GRCm39)	V154G	probably damaging	Het
Ccdc170	A	T	10: 4,483,957 (GRCm39)		probably null	Het
Ccdc187	T	C	2: 26,171,227 (GRCm39)	H417R	probably benign	Het
Cct4	T	A	11: 22,949,070 (GRCm39)	M272K	probably damaging	Het
Chd9	A	G	8: 91,760,417 (GRCm39)	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584 (GRCm39)	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,027 (GRCm39)	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,108,380 (GRCm39)	M368K	probably damaging	Het
Dhx32	A	G	7: 133,326,267 (GRCm39)	F527L	probably benign	Het
Foxk1	T	C	5: 142,387,739 (GRCm39)	V154A	probably damaging	Het
Frem3	G	A	8: 81,339,890 (GRCm39)	E728K	probably benign	Het
Gemin5	G	A	11: 58,020,846 (GRCm39)	Q1114*	probably null	Het
Gm11567	C	T	11: 99,770,274 (GRCm39)	R71C	unknown	Het
Gm13272	T	C	4: 88,698,442 (GRCm39)	V119A	probably benign	Het
Gpc6	T	A	14: 117,163,435 (GRCm39)	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,491,395 (GRCm39)	F785V	probably damaging	Het
Hormad1	T	C	3: 95,494,693 (GRCm39)	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,324,907 (GRCm39)		probably null	Het
Il17ra	C	T	6: 120,459,240 (GRCm39)	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,733,438 (GRCm39)	S80P	probably benign	Het
Klhdc2	T	A	12: 69,346,995 (GRCm39)	N53K	probably benign	Het
Klhl30	C	T	1: 91,282,089 (GRCm39)	P230L	probably benign	Het
Marchf1	C	A	8: 66,729,339 (GRCm39)	A46E	probably benign	Het
Mast4	T	C	13: 102,890,705 (GRCm39)	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049 (GRCm39)	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,258,063 (GRCm39)	V53A	probably benign	Het
Myh11	T	A	16: 14,025,992 (GRCm39)	E1326V		Het
Myh3	A	G	11: 66,992,005 (GRCm39)	E1850G	probably damaging	Het
Myo16	A	G	8: 10,619,925 (GRCm39)	D1492G	unknown	Het
Myo3b	C	A	2: 70,180,287 (GRCm39)	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,646,605 (GRCm39)	Q1379L	probably null	Het
Or8g30	C	T	9: 39,230,815 (GRCm39)	V32I	probably benign	Het
Or9q1	A	G	19: 13,804,914 (GRCm39)	I282T	probably benign	Het
Osbpl6	T	G	2: 76,385,361 (GRCm39)	L265R	probably damaging	Het
Pld4	A	G	12: 112,734,862 (GRCm39)	T440A	probably damaging	Het
Prr14	T	C	7: 127,071,128 (GRCm39)	M1T	probably null	Het
Ptger4	A	T	15: 5,273,178 (GRCm39)	M1K	probably null	Het
Ptpn22	A	T	3: 103,795,842 (GRCm39)	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,879,319 (GRCm39)	W170R	probably damaging	Het
Specc1l	A	G	10: 75,066,603 (GRCm39)	I17M	probably benign	Het
Spmap1	T	A	11: 97,666,594 (GRCm39)	I31F	probably benign	Het
Sptbn4	C	G	7: 27,071,662 (GRCm39)	G1601R	probably damaging	Het
Sqor	C	T	2: 122,626,912 (GRCm39)	P11L	probably benign	Het
Stac2	T	C	11: 97,934,449 (GRCm39)	D85G	probably benign	Het
Svs5	G	A	2: 164,078,918 (GRCm39)	Q330*	probably null	Het
Taar7e	A	G	10: 23,913,554 (GRCm39)	I15V	probably benign	Het
Tcf4	A	T	18: 69,770,007 (GRCm39)	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,538,046 (GRCm39)	N1873S	probably damaging	Het
Tert	T	A	13: 73,775,648 (GRCm39)	V133D	probably benign	Het
Tfap2a	T	A	13: 40,870,658 (GRCm39)	N410I	probably damaging	Het
Tjp3	A	T	10: 81,109,694 (GRCm39)	D836E	probably benign	Het
Tox3	A	T	8: 90,975,206 (GRCm39)	M475K	unknown	Het
Traf4	A	T	11: 78,050,979 (GRCm39)	D392E	probably damaging	Het
Vav2	A	G	2: 27,181,825 (GRCm39)	L338P	probably damaging	Het
Vmn1r81	T	C	7: 11,994,113 (GRCm39)	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,995,409 (GRCm39)	V413E	probably damaging	Het
Wdr7	A	T	18: 63,911,059 (GRCm39)	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,570,700 (GRCm39)	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,464,922 (GRCm39)	H1718Q	probably damaging	Het
Zfp945	G	A	17: 23,071,228 (GRCm39)	H245Y	probably benign	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
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
Z1176:Cacnb1	UTSW	11	97,913,381 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTAGGACATAAGTCACCCC -3'
(R):5'- ATCATTGAGCGCTCCAACAC -3'

Sequencing Primer
(F):5'- TAGGACATAAGTCACCCCATCATG -3'
(R):5'- AACACGCGTTCCAGCCTG -3'

Posted On

2022-11-14