Mutagenetix > Incidental Mutation

Incidental Mutation 'R7980:Cacnb2'

651112

Institutional Source

Beutler Lab

Gene Symbol

Cacnb2

Ensembl Gene

ENSMUSG00000057914

Gene Name

calcium channel, voltage-dependent, beta 2 subunit

Synonyms

Cchb2, Cavbeta2

MMRRC Submission

046021-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14607899-14992719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14609326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 22 (E22G)

Ref Sequence

ENSEMBL: ENSMUSP00000110371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114723]

AlphaFold

Q8CC27

Predicted Effect

probably benign
Transcript: ENSMUST00000114723
AA Change: E22G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110371
Gene: ENSMUSG00000057914
AA Change: E22G

Domain	Start	End	E-Value	Type
low complexity region	50	61	N/A	INTRINSIC
Pfam:VGCC_beta4Aa_N	68	109	2.7e-25	PFAM
SH3	113	177	2.42e-2	SMART
low complexity region	193	205	N/A	INTRINSIC
GuKc	276	458	6.11e-38	SMART
low complexity region	463	492	N/A	INTRINSIC
low complexity region	590	605	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (87/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality at E10.5 with growth retardation, abnormal yolk vasculature and abnormal cardiac development and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,786,315 (GRCm39)	L101P	unknown	Het
Actn3	G	A	19: 4,917,950 (GRCm39)	P339L	probably damaging	Het
Adamts12	G	A	15: 11,263,423 (GRCm39)	C595Y	probably damaging	Het
Adrm1b	T	A	3: 92,336,406 (GRCm39)	K99*	probably null	Het
Agl	A	T	3: 116,585,830 (GRCm39)	N99K	probably benign	Het
Aplp1	A	T	7: 30,134,992 (GRCm39)	M592K	probably benign	Het
Arhgef11	C	T	3: 87,605,297 (GRCm39)	R251C	probably benign	Het
Arhgef12	A	T	9: 42,882,595 (GRCm39)	C1416*	probably null	Het
Asah1	A	G	8: 41,807,067 (GRCm39)	M119T		Het
Asxl2	A	T	12: 3,546,630 (GRCm39)	Q471H	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Btbd16	C	A	7: 130,426,097 (GRCm39)	P520Q	probably damaging	Het
Catspere2	G	T	1: 177,830,610 (GRCm39)		probably null	Het
Cdc25a	T	A	9: 109,708,949 (GRCm39)	D124E	probably damaging	Het
Cdc42se1	A	T	3: 95,139,166 (GRCm39)		probably benign	Het
Cdcp3	T	A	7: 130,836,506 (GRCm39)	V400E	probably damaging	Het
Cfap54	T	C	10: 92,817,922 (GRCm39)	K1265E	possibly damaging	Het
Chaf1b	A	G	16: 93,681,415 (GRCm39)	H11R	probably damaging	Het
Chil4	T	C	3: 106,110,060 (GRCm39)	K345E	probably damaging	Het
Cntnap1	A	G	11: 101,079,719 (GRCm39)	I1283V	probably benign	Het
Dagla	C	T	19: 10,229,406 (GRCm39)	C618Y	possibly damaging	Het
Ddx19b	C	T	8: 111,738,077 (GRCm39)	V224M	possibly damaging	Het
Dohh	C	T	10: 81,223,726 (GRCm39)	R260*	probably null	Het
Dsg3	A	T	18: 20,664,417 (GRCm39)	N472Y	probably benign	Het
Duox1	T	A	2: 122,177,801 (GRCm39)	N1528K	possibly damaging	Het
Eml6	A	G	11: 29,783,205 (GRCm39)	Y559H	probably damaging	Het
Esp4	A	G	17: 40,913,192 (GRCm39)	T20A	possibly damaging	Het
Fbxw21	T	C	9: 108,985,639 (GRCm39)		probably null	Het
Gcc2	T	A	10: 58,114,574 (GRCm39)		probably null	Het
Grin3b	C	T	10: 79,811,559 (GRCm39)	A715V	possibly damaging	Het
Gxylt2	A	T	6: 100,764,170 (GRCm39)		probably null	Het
Hspa4	A	T	11: 53,171,404 (GRCm39)	S267T	probably benign	Het
Hspd1	A	G	1: 55,117,785 (GRCm39)	V491A	possibly damaging	Het
Idua	A	G	5: 108,828,486 (GRCm39)	E280G	probably benign	Het
Ift172	T	A	5: 31,417,988 (GRCm39)	E1267V	probably benign	Het
Itsn1	T	A	16: 91,702,182 (GRCm39)	V1448E	unknown	Het
Kat6a	A	G	8: 23,416,432 (GRCm39)	M647V	possibly damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif1b	A	T	4: 149,354,378 (GRCm39)	F221I	probably damaging	Het
Lama2	G	T	10: 27,239,609 (GRCm39)	D315E	probably damaging	Het
Lrrn4	G	A	2: 132,720,096 (GRCm39)	L235F	probably damaging	Het
Map2k6	T	A	11: 110,390,210 (GRCm39)	I248N		Het
Mgat5	A	G	1: 127,407,248 (GRCm39)	Q638R	probably benign	Het
Mia2	A	G	12: 59,155,651 (GRCm39)	K455E	probably damaging	Het
Mrs2	A	G	13: 25,204,221 (GRCm39)	C3R	possibly damaging	Het
Nprl3	A	G	11: 32,187,357 (GRCm39)	I325T	probably damaging	Het
Nr1h3	T	A	2: 91,021,229 (GRCm39)	Q186L	probably benign	Het
Oas1f	A	G	5: 120,989,538 (GRCm39)	E159G	probably benign	Het
Or2g7	A	T	17: 38,378,412 (GRCm39)	M117L	possibly damaging	Het
Or4k15b	T	A	14: 50,272,252 (GRCm39)	S203C	probably damaging	Het
Or52ae7	T	A	7: 103,119,504 (GRCm39)	F86Y	probably damaging	Het
Or52e19b	T	A	7: 103,032,970 (GRCm39)	I80F	probably damaging	Het
Or52s1b	T	A	7: 102,822,242 (GRCm39)	S201C	probably damaging	Het
Or5m12	A	G	2: 85,734,942 (GRCm39)	F152S	probably benign	Het
Or8g4	T	C	9: 39,662,417 (GRCm39)	I245T	probably damaging	Het
Or9a4	T	A	6: 40,549,154 (GRCm39)	I278N	probably benign	Het
Pbxip1	G	C	3: 89,353,648 (GRCm39)	S267T	probably benign	Het
Pcdhga10	A	T	18: 37,881,645 (GRCm39)	I469F	possibly damaging	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Plcd4	A	C	1: 74,604,464 (GRCm39)	N788T	probably benign	Het
Pms2	T	A	5: 143,867,909 (GRCm39)	W838R	probably damaging	Het
Pnpla6	T	A	8: 3,586,562 (GRCm39)	V926D	probably damaging	Het
Pros1	A	T	16: 62,748,516 (GRCm39)	H663L	possibly damaging	Het
Prss55	T	C	14: 64,316,138 (GRCm39)		probably null	Het
Pum2	T	C	12: 8,763,904 (GRCm39)	Y283H	probably damaging	Het
Rad21	A	G	15: 51,828,422 (GRCm39)	S549P	probably benign	Het
Sap130	T	A	18: 31,781,182 (GRCm39)		probably null	Het
Sertad4	C	T	1: 192,529,189 (GRCm39)	S209N	probably benign	Het
Sez6	A	G	11: 77,844,668 (GRCm39)	T164A	probably benign	Het
Slc22a28	C	T	19: 8,078,837 (GRCm39)	R284Q	probably damaging	Het
Slco4c1	T	C	1: 96,764,650 (GRCm39)	K474R	probably benign	Het
Stx5a	T	C	19: 8,719,802 (GRCm39)	S56P	probably damaging	Het
Svopl	T	C	6: 37,991,744 (GRCm39)	T379A	probably damaging	Het
Sypl2	A	G	3: 108,125,008 (GRCm39)	F118L	probably damaging	Het
Tfrc	G	A	16: 32,435,967 (GRCm39)	V215M	probably benign	Het
Thnsl2	T	C	6: 71,115,652 (GRCm39)	N185S	probably damaging	Het
Tmem104	T	C	11: 115,134,580 (GRCm39)	I372T	probably damaging	Het
Tnfaip6	G	A	2: 51,941,070 (GRCm39)	G204S	probably damaging	Het
Trim12a	C	T	7: 103,953,335 (GRCm39)	E259K	probably benign	Het
Tubgcp6	G	A	15: 88,986,232 (GRCm39)	R1436C	probably benign	Het
Tyrp1	C	T	4: 80,758,864 (GRCm39)	L246F	probably damaging	Het
Ubr4	G	T	4: 139,145,717 (GRCm39)	V216F		Het
Unc5a	A	G	13: 55,147,319 (GRCm39)	I409V	possibly damaging	Het
Vmn1r15	T	C	6: 57,235,399 (GRCm39)	L89P	probably damaging	Het
Vmn1r32	A	T	6: 66,530,305 (GRCm39)	L157*	probably null	Het
Zcchc24	A	G	14: 25,720,185 (GRCm39)	Y160H	probably damaging	Het
Zfp184	A	T	13: 22,144,376 (GRCm39)	H694L	probably damaging	Het
Zfp345	A	C	2: 150,314,723 (GRCm39)	Y271*	probably null	Het
Zranb3	T	C	1: 128,030,671 (GRCm39)		probably benign	Het

Other mutations in Cacnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Cacnb2	APN	2	14,989,081 (GRCm39)	missense	possibly damaging	0.95
IGL01806:Cacnb2	APN	2	14,619,079 (GRCm39)	missense	probably damaging	1.00
IGL01939:Cacnb2	APN	2	14,976,380 (GRCm39)	missense	probably benign	0.16
IGL02941:Cacnb2	APN	2	14,963,640 (GRCm39)	missense	probably benign	0.00
PIT1430001:Cacnb2	UTSW	2	14,976,412 (GRCm39)	nonsense	probably null
PIT4498001:Cacnb2	UTSW	2	14,879,630 (GRCm39)	nonsense	probably null
PIT4508001:Cacnb2	UTSW	2	14,989,230 (GRCm39)	missense	probably benign	0.00
R0095:Cacnb2	UTSW	2	14,963,586 (GRCm39)	missense	probably damaging	1.00
R0731:Cacnb2	UTSW	2	14,990,517 (GRCm39)	missense	possibly damaging	0.95
R1521:Cacnb2	UTSW	2	14,619,163 (GRCm39)	missense	probably benign	0.18
R1829:Cacnb2	UTSW	2	14,990,775 (GRCm39)	missense	possibly damaging	0.89
R2174:Cacnb2	UTSW	2	14,963,578 (GRCm39)	missense	probably benign	0.21
R2471:Cacnb2	UTSW	2	14,989,125 (GRCm39)	missense	probably damaging	1.00
R2473:Cacnb2	UTSW	2	14,989,125 (GRCm39)	missense	probably damaging	1.00
R3801:Cacnb2	UTSW	2	14,829,074 (GRCm39)	missense	possibly damaging	0.85
R3831:Cacnb2	UTSW	2	14,986,236 (GRCm39)	missense	probably damaging	1.00
R3832:Cacnb2	UTSW	2	14,986,236 (GRCm39)	missense	probably damaging	1.00
R3833:Cacnb2	UTSW	2	14,986,236 (GRCm39)	missense	probably damaging	1.00
R3981:Cacnb2	UTSW	2	14,609,314 (GRCm39)	missense	probably benign
R4231:Cacnb2	UTSW	2	14,986,251 (GRCm39)	missense	probably damaging	1.00
R4426:Cacnb2	UTSW	2	14,980,026 (GRCm39)	nonsense	probably null
R4569:Cacnb2	UTSW	2	14,990,811 (GRCm39)	missense	possibly damaging	0.94
R4815:Cacnb2	UTSW	2	14,879,591 (GRCm39)	missense	probably damaging	1.00
R4911:Cacnb2	UTSW	2	14,986,151 (GRCm39)	missense	possibly damaging	0.83
R5189:Cacnb2	UTSW	2	14,990,849 (GRCm39)	missense	possibly damaging	0.56
R6114:Cacnb2	UTSW	2	14,980,012 (GRCm39)	missense	possibly damaging	0.88
R6158:Cacnb2	UTSW	2	14,990,412 (GRCm39)	missense	possibly damaging	0.62
R6530:Cacnb2	UTSW	2	14,979,978 (GRCm39)	missense	probably damaging	1.00
R6612:Cacnb2	UTSW	2	14,979,960 (GRCm39)	missense	probably benign	0.41
R6882:Cacnb2	UTSW	2	14,829,110 (GRCm39)	missense	probably benign	0.00
R6889:Cacnb2	UTSW	2	14,990,826 (GRCm39)	missense	possibly damaging	0.55
R7804:Cacnb2	UTSW	2	14,972,848 (GRCm39)	missense	probably benign	0.08
R7820:Cacnb2	UTSW	2	14,965,477 (GRCm39)	missense	probably damaging	1.00
R7971:Cacnb2	UTSW	2	14,976,409 (GRCm39)	missense	possibly damaging	0.51
R7993:Cacnb2	UTSW	2	14,968,731 (GRCm39)	missense	probably benign	0.16
R8762:Cacnb2	UTSW	2	14,972,759 (GRCm39)	missense	possibly damaging	0.71
R8868:Cacnb2	UTSW	2	14,989,080 (GRCm39)	missense	probably benign	0.41
R9147:Cacnb2	UTSW	2	14,972,773 (GRCm39)	missense	possibly damaging	0.89
R9148:Cacnb2	UTSW	2	14,972,773 (GRCm39)	missense	possibly damaging	0.89
R9211:Cacnb2	UTSW	2	14,879,308 (GRCm39)	missense	unknown
R9521:Cacnb2	UTSW	2	14,609,138 (GRCm39)	start gained	probably benign
R9773:Cacnb2	UTSW	2	14,976,452 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGCAACATGCTTCAGCG -3'
(R):5'- TCCCACTGGCTTTTCAGAAAG -3'

Sequencing Primer
(F):5'- AACATGCTTCAGCGGCGTC -3'
(R):5'- CTTTTCAGAAAGCAAAGGGGGC -3'

Posted On

2020-09-15