Mutagenetix > Incidental Mutation

Incidental Mutation 'R7163:Cacnb1'

557755

Institutional Source

Beutler Lab

Gene Symbol

Cacnb1

Ensembl Gene

ENSMUSG00000020882

Gene Name

calcium channel, voltage-dependent, beta 1 subunit

Synonyms

Cchb1, Cchlb1

MMRRC Submission

045330-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97892339-97913860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97903726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 109 (V109A)

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 benign
Transcript: ENSMUST00000017552
AA Change: V109A

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000017552
Gene: ENSMUSG00000020882
AA Change: V109A

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: V109A

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090412
Gene: ENSMUSG00000020882
AA Change: V109A

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: V109A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099433
Gene: ENSMUSG00000020882
AA Change: V109A

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

possibly damaging
Transcript: ENSMUST00000107561
AA Change: V62A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103186
Gene: ENSMUSG00000020882
AA Change: V62A

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

possibly damaging
Transcript: ENSMUST00000107562
AA Change: V109A

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103187
Gene: ENSMUSG00000020882
AA Change: V109A

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,319,372 (GRCm39)	K4R	possibly damaging	Het
A830018L16Rik	G	A	1: 11,484,848 (GRCm39)	G19D	probably damaging	Het
Abca3	A	T	17: 24,583,916 (GRCm39)	M102L	probably benign	Het
Adam19	A	T	11: 46,022,544 (GRCm39)	Y499F	probably benign	Het
Adck2	T	C	6: 39,560,797 (GRCm39)	V444A	probably damaging	Het
Adck5	T	C	15: 76,478,016 (GRCm39)	V214A	probably damaging	Het
Agrn	G	A	4: 156,262,966 (GRCm39)	T437M	probably damaging	Het
Aox3	A	T	1: 58,158,671 (GRCm39)	I81F	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Blmh	A	G	11: 76,836,987 (GRCm39)	Y23C	unknown	Het
Ccdc27	C	T	4: 154,117,282 (GRCm39)	R555H	not run	Het
Cep170	A	C	1: 176,602,031 (GRCm39)	S358R	probably damaging	Het
Cfap46	A	T	7: 139,197,994 (GRCm39)		probably null	Het
Dclk1	G	T	3: 55,163,549 (GRCm39)	E214*	probably null	Het
Dhrs1	A	G	14: 55,976,838 (GRCm39)	L282P	probably benign	Het
Dlgap5	A	G	14: 47,637,095 (GRCm39)	L461P	probably damaging	Het
Elp2	G	T	18: 24,747,503 (GRCm39)	C185F	probably benign	Het
Fbxw7	T	C	3: 84,832,892 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,933,571 (GRCm39)	V17A	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm43302	T	A	5: 105,441,493 (GRCm39)		probably null	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hcn1	A	T	13: 118,062,083 (GRCm39)	I450L	unknown	Het
Hydin	T	A	8: 111,329,968 (GRCm39)	C4901S	probably benign	Het
Ino80	A	T	2: 119,223,356 (GRCm39)	I1186N	probably damaging	Het
Ints7	T	A	1: 191,349,949 (GRCm39)	I781N	possibly damaging	Het
Irf2	T	A	8: 47,290,712 (GRCm39)	V178E	possibly damaging	Het
Iws1	T	A	18: 32,226,277 (GRCm39)	S722T	possibly damaging	Het
Jak1	G	A	4: 101,032,385 (GRCm39)	S407F	probably damaging	Het
Kdm3a	G	T	6: 71,609,061 (GRCm39)	D55E	probably damaging	Het
Kdm5d	T	C	Y: 899,940 (GRCm39)	S169P	probably damaging	Het
Kif15	A	G	9: 122,846,722 (GRCm39)	N1348S	probably damaging	Het
Kpna7	G	A	5: 144,939,206 (GRCm39)	P187L	unknown	Het
Krt35	A	T	11: 99,986,984 (GRCm39)	F10Y	probably damaging	Het
Lemd1	G	T	1: 132,184,475 (GRCm39)	V131F	probably benign	Het
Mcf2l	G	A	8: 12,965,439 (GRCm39)	R4H	probably benign	Het
Megf6	C	T	4: 154,351,898 (GRCm39)	R1166C	probably damaging	Het
Mmp11	T	C	10: 75,762,410 (GRCm39)	I308V	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,238 (GRCm39)	V121A	probably benign	Het
Myl2	T	A	5: 122,239,885 (GRCm39)	I26N	probably damaging	Het
Myo15a	A	G	11: 60,389,195 (GRCm39)	M862V		Het
Nckap5l	T	C	15: 99,331,354 (GRCm39)	H64R	probably damaging	Het
Nipsnap2	A	C	5: 129,821,774 (GRCm39)	E90A	probably benign	Het
Nup210	G	T	6: 91,050,313 (GRCm39)	N385K	probably damaging	Het
Or2h2	T	C	17: 37,396,937 (GRCm39)	N40S	probably damaging	Het
Or2t48	C	A	11: 58,419,994 (GRCm39)	E273*	probably null	Het
Or5m11b	T	A	2: 85,805,932 (GRCm39)	L115Q	probably damaging	Het
Or8c19-ps1	T	C	9: 38,220,345 (GRCm39)	F85L	probably damaging	Het
Or9e1	T	C	11: 58,732,012 (GRCm39)	V24A	probably benign	Het
Pcmt1	A	T	10: 7,513,922 (GRCm39)	M249K	probably benign	Het
Pde3a	T	C	6: 141,433,270 (GRCm39)	L767P	probably damaging	Het
Pde8a	T	C	7: 80,956,456 (GRCm39)	V285A	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,416 (GRCm39)	K690*	probably null	Het
Plxna4	T	C	6: 32,473,691 (GRCm39)	H442R	probably benign	Het
Polr1b	A	G	2: 128,967,931 (GRCm39)	D1108G	probably benign	Het
Prkn	G	A	17: 12,280,434 (GRCm39)	C430Y	probably damaging	Het
Sec23ip	T	C	7: 128,364,257 (GRCm39)		probably null	Het
Slc24a3	A	G	2: 145,086,911 (GRCm39)	D57G	probably benign	Het
Sprtn	T	G	8: 125,625,044 (GRCm39)	F50V	probably damaging	Het
Srr	A	G	11: 74,803,828 (GRCm39)	F43S	probably damaging	Het
Szt2	A	G	4: 118,262,727 (GRCm39)	F17L	possibly damaging	Het
Taar1	G	T	10: 23,796,918 (GRCm39)	M205I	probably benign	Het
Tas2r143	A	G	6: 42,377,202 (GRCm39)	I11V	probably benign	Het
Tlx1	T	C	19: 45,139,655 (GRCm39)	S101P	probably damaging	Het
Tmeff2	T	C	1: 50,977,503 (GRCm39)		probably null	Het
Vhl	A	G	6: 113,606,451 (GRCm39)	D156G	possibly damaging	Het
Washc4	T	A	10: 83,426,897 (GRCm39)	D1068E	probably damaging	Het
Zfp513	A	G	5: 31,358,076 (GRCm39)	V101A	probably benign	Het
Zfp82	T	C	7: 29,761,669 (GRCm39)	R71G	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
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
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'- TGCCTCCCTGAGAGTTATGC -3'
(R):5'- GAACGCTGCTAGCTCATGAG -3'

Sequencing Primer
(F):5'- CCTAAGGGTGCATAGCAGACTC -3'
(R):5'- CACCCGTCGCTTTTGTATTGTAAAAG -3'

Posted On

2019-06-26