Mutagenetix > Incidental Mutation

Incidental Mutation 'R8892:Cacnb1'

677776

Institutional Source

Beutler Lab

Gene Symbol

Cacnb1

Ensembl Gene

ENSMUSG00000020882

Gene Name

calcium channel, voltage-dependent, beta 1 subunit

Synonyms

Cchb1, Cchlb1

MMRRC Submission

068695-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97892339-97913860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97901192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 220 (V220E)

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: V220E

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

SMART Domains

Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: V220E

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
AA Change: V265E

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000090412
Gene: ENSMUSG00000020882
AA Change: V265E

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

possibly damaging
Transcript: ENSMUST00000103144
AA Change: V265E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: V265E

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
AA Change: V218E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103186
Gene: ENSMUSG00000020882
AA Change: V218E

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: V220E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103187
Gene: ENSMUSG00000020882
AA Change: V220E

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

Meta Mutation Damage Score

0.3836

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.6%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,815,606 (GRCm39)	L285I	probably damaging	Het
Abcc2	T	G	19: 43,795,571 (GRCm39)	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Adpgk	A	G	9: 59,217,623 (GRCm39)	Y212C	probably damaging	Het
Ahcyl1	C	T	3: 107,579,378 (GRCm39)	D219N	probably benign	Het
Ap3b1	G	A	13: 94,679,348 (GRCm39)	V997M	unknown	Het
Bbs1	A	C	19: 4,942,954 (GRCm39)	S479A	probably benign	Het
Bean1	A	T	8: 104,943,610 (GRCm39)	D231V	probably damaging	Het
Camkv	C	T	9: 107,823,333 (GRCm39)	R120*	probably null	Het
Ccny	T	G	18: 9,345,235 (GRCm39)	S180R	probably damaging	Het
Cdh23	G	T	10: 60,143,284 (GRCm39)	H3012Q	probably damaging	Het
Chd9	A	G	8: 91,660,468 (GRCm39)	N476S	unknown	Het
Clasp2	T	A	9: 113,709,251 (GRCm39)	L680Q	probably damaging	Het
Clip1	A	T	5: 123,717,565 (GRCm39)	S1241R	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Csmd3	T	A	15: 47,604,634 (GRCm39)	K1036N		Het
Ctnna1	G	A	18: 35,372,586 (GRCm39)	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,993,556 (GRCm39)	I852S	probably benign	Het
Dhrs1	G	A	14: 55,977,404 (GRCm39)	A238V	possibly damaging	Het
Echs1	A	C	7: 139,688,031 (GRCm39)	L258R	probably damaging	Het
Epha8	G	T	4: 136,661,850 (GRCm39)	H582N	probably benign	Het
Fhod3	G	A	18: 25,189,452 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr179	T	C	11: 97,226,590 (GRCm39)	D1855G	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ipo9	T	C	1: 135,314,544 (GRCm39)	N904S	possibly damaging	Het
Itih3	A	G	14: 30,637,635 (GRCm39)	V508A	probably benign	Het
Klhl14	T	G	18: 21,691,220 (GRCm39)	T437P	possibly damaging	Het
Krt5	T	C	15: 101,619,185 (GRCm39)	M268V	probably benign	Het
Lama4	T	A	10: 38,973,194 (GRCm39)	L1587Q	probably damaging	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Lrfn2	A	C	17: 49,377,376 (GRCm39)	E152D	probably damaging	Het
Ltn1	A	T	16: 87,229,230 (GRCm39)		probably benign	Het
Ly9	A	T	1: 171,421,465 (GRCm39)	D595E	possibly damaging	Het
Macf1	A	G	4: 123,249,036 (GRCm39)	L7165P	probably damaging	Het
Magi3	C	T	3: 103,958,141 (GRCm39)	G648D	probably damaging	Het
Mgll	T	A	6: 88,743,306 (GRCm39)	C109S	unknown	Het
Micall2	T	A	5: 139,703,254 (GRCm39)	H194L	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp16	T	A	4: 18,051,820 (GRCm39)	Y270N	probably damaging	Het
Naa16	A	T	14: 79,628,016 (GRCm39)	F14I	probably benign	Het
Nme6	T	G	9: 109,668,706 (GRCm39)	F41V	probably damaging	Het
Npffr1	A	G	10: 61,449,939 (GRCm39)	N71S	possibly damaging	Het
Or1b1	C	A	2: 36,995,523 (GRCm39)	L46F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,207,949 (GRCm39)	W33R	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Pard3b	T	A	1: 62,677,026 (GRCm39)	Y1186N	probably damaging	Het
Pou2f1	A	T	1: 165,708,027 (GRCm39)	S552T	unknown	Het
Ppp2r3c	A	T	12: 55,336,453 (GRCm39)	L233Q	possibly damaging	Het
Prl8a1	G	A	13: 27,766,069 (GRCm39)	H9Y	possibly damaging	Het
Rnf135	C	T	11: 80,074,957 (GRCm39)	T72I	probably benign	Het
Rsf1	A	T	7: 97,328,171 (GRCm39)	I1058F		Het
Slc39a6	A	T	18: 24,729,386 (GRCm39)	Y442*	probably null	Het
Slc44a2	G	A	9: 21,253,153 (GRCm39)		probably benign	Het
Slc4a11	T	G	2: 130,529,140 (GRCm39)	S437R	probably damaging	Het
Spc24	G	A	9: 21,668,994 (GRCm39)	Q98*	probably null	Het
Spock3	T	A	8: 63,404,986 (GRCm39)	Y51*	probably null	Het
Sptbn1	A	G	11: 30,067,800 (GRCm39)	Y1805H	probably benign	Het
Tango6	A	G	8: 107,468,845 (GRCm39)	I780M	probably benign	Het
Tcerg1l	C	T	7: 137,999,260 (GRCm39)	W41*	probably null	Het
Tdrd9	A	G	12: 111,979,718 (GRCm39)	Y401C	probably benign	Het
Tex47	A	T	5: 7,355,115 (GRCm39)	I99F	probably damaging	Het
Tlr9	G	A	9: 106,099,834 (GRCm39)		probably benign	Het
Tmem209	T	A	6: 30,497,942 (GRCm39)	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,687,618 (GRCm39)	S97A	possibly damaging	Het
Top6bl	A	G	19: 4,699,721 (GRCm39)	V494A	possibly damaging	Het
Ttc7	T	A	17: 87,637,520 (GRCm39)	M425K	probably damaging	Het
Ttn	C	T	2: 76,739,466 (GRCm39)	G3737D	unknown	Het
Tyk2	T	C	9: 21,027,463 (GRCm39)	H503R	probably benign	Het
Unc13b	A	T	4: 43,176,484 (GRCm39)	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,766,186 (GRCm39)	R58C	probably damaging	Het
Vmn1r160	G	A	7: 22,571,474 (GRCm39)	V276I	probably benign	Het
Vmn2r112	A	G	17: 22,837,612 (GRCm39)	Y691C	probably damaging	Het
Vmn2r87	A	C	10: 130,308,105 (GRCm39)	I711S	probably damaging	Het
Vmn2r94	A	G	17: 18,464,335 (GRCm39)	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967 (GRCm39)	C313S	probably damaging	Het
Xrcc5	T	G	1: 72,382,190 (GRCm39)	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,290,987 (GRCm39)		probably benign	Het
Zfp964	G	A	8: 70,116,405 (GRCm39)	G335D	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
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
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'- TCTCTGAAGGGATAATGAGCTTTGG -3'
(R):5'- CGGTGAGTATGGCAGCTTTC -3'

Sequencing Primer
(F):5'- GGGACATGGGACCCTTTGGAATATC -3'
(R):5'- GAGGGGCTTCTAACACCTGTTTC -3'

Posted On

2021-08-02