Mutagenetix > Incidental Mutation

Incidental Mutation 'R0383:Cacna1b'

31054

Institutional Source

Beutler Lab

Gene Symbol

Cacna1b

Ensembl Gene

ENSMUSG00000004113

Gene Name

calcium channel, voltage-dependent, N type, alpha 1B subunit

Synonyms

alpha(1B), Cav2.2, Cchn1a

MMRRC Submission

038589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24493899-24653164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24651856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 108 (N108D)

Ref Sequence

ENSEMBL: ENSMUSP00000063236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041342] [ENSMUST00000070864] [ENSMUST00000100348] [ENSMUST00000102939] [ENSMUST00000114447]

AlphaFold

O55017

Predicted Effect

probably damaging
Transcript: ENSMUST00000041342
AA Change: N108D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: N108D

Domain	Start	End	E-Value	Type
low complexity region	9	40	N/A	INTRINSIC
Pfam:Ion_trans	133	355	1.2e-57	PFAM
PDB:4DEX\|B	358	467	8e-66	PDB
Pfam:Ion_trans	516	708	1.1e-47	PFAM
Pfam:PKD_channel	569	715	2.3e-7	PFAM
low complexity region	728	739	N/A	INTRINSIC
low complexity region	849	858	N/A	INTRINSIC
low complexity region	903	913	N/A	INTRINSIC
low complexity region	916	933	N/A	INTRINSIC
low complexity region	1091	1102	N/A	INTRINSIC
Pfam:Ion_trans	1174	1408	2.7e-52	PFAM
Pfam:Ion_trans	1498	1698	1.2e-59	PFAM
Pfam:PKD_channel	1551	1705	8.1e-9	PFAM
Ca_chan_IQ	1837	1871	1.09e-11	SMART
low complexity region	2040	2050	N/A	INTRINSIC
low complexity region	2092	2114	N/A	INTRINSIC
low complexity region	2276	2292	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070864
AA Change: N108D

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

SMART Domains

Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: N108D

Domain	Start	End	E-Value	Type
low complexity region	9	40	N/A	INTRINSIC
Pfam:Ion_trans	133	355	1.4e-57	PFAM
PDB:4DEX\|B	358	467	8e-66	PDB
Pfam:Ion_trans	516	708	1.2e-47	PFAM
Pfam:PKD_channel	569	715	1.5e-7	PFAM
low complexity region	728	739	N/A	INTRINSIC
low complexity region	848	857	N/A	INTRINSIC
low complexity region	902	912	N/A	INTRINSIC
low complexity region	915	932	N/A	INTRINSIC
low complexity region	1090	1101	N/A	INTRINSIC
Pfam:Ion_trans	1173	1403	1.8e-52	PFAM
Pfam:Ion_trans	1493	1695	5.4e-60	PFAM
Pfam:PKD_channel	1544	1702	4.9e-9	PFAM
Ca_chan_IQ	1798	1832	7.2e-12	SMART
low complexity region	2001	2011	N/A	INTRINSIC
low complexity region	2053	2075	N/A	INTRINSIC
low complexity region	2237	2253	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100348
AA Change: N108D

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: N108D

Domain	Start	End	E-Value	Type
low complexity region	9	40	N/A	INTRINSIC
Pfam:Ion_trans	133	355	1.4e-57	PFAM
PDB:4DEX\|B	358	468	5e-68	PDB
Pfam:Ion_trans	517	709	1.2e-47	PFAM
Pfam:PKD_channel	570	716	1.6e-7	PFAM
low complexity region	729	740	N/A	INTRINSIC
low complexity region	850	859	N/A	INTRINSIC
low complexity region	904	914	N/A	INTRINSIC
low complexity region	917	934	N/A	INTRINSIC
low complexity region	1092	1103	N/A	INTRINSIC
Pfam:Ion_trans	1175	1409	3.2e-52	PFAM
Pfam:Ion_trans	1499	1699	1.4e-59	PFAM
Pfam:PKD_channel	1552	1706	5.6e-9	PFAM
Ca_chan_IQ	1838	1872	1.09e-11	SMART
low complexity region	2041	2051	N/A	INTRINSIC
low complexity region	2093	2115	N/A	INTRINSIC
low complexity region	2277	2293	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102939
AA Change: N108D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: N108D

Domain	Start	End	E-Value	Type
low complexity region	9	40	N/A	INTRINSIC
Pfam:Ion_trans	133	355	1.4e-57	PFAM
PDB:4DEX\|B	358	467	1e-65	PDB
Pfam:Ion_trans	516	708	1.2e-47	PFAM
Pfam:PKD_channel	569	715	1.6e-7	PFAM
low complexity region	728	739	N/A	INTRINSIC
low complexity region	849	858	N/A	INTRINSIC
low complexity region	903	913	N/A	INTRINSIC
low complexity region	916	933	N/A	INTRINSIC
low complexity region	1091	1102	N/A	INTRINSIC
Pfam:Ion_trans	1174	1404	1.9e-52	PFAM
Pfam:Ion_trans	1494	1696	5.5e-60	PFAM
Pfam:PKD_channel	1545	1703	5e-9	PFAM
Ca_chan_IQ	1835	1869	1.09e-11	SMART
low complexity region	2038	2048	N/A	INTRINSIC
low complexity region	2090	2112	N/A	INTRINSIC
low complexity region	2274	2290	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114447
AA Change: N108D

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: N108D

Domain	Start	End	E-Value	Type
low complexity region	9	40	N/A	INTRINSIC
Pfam:Ion_trans	94	367	8.5e-69	PFAM
Pfam:Ion_trans	482	721	2.4e-57	PFAM
Pfam:PKD_channel	571	715	1e-7	PFAM
low complexity region	729	740	N/A	INTRINSIC
low complexity region	850	859	N/A	INTRINSIC
low complexity region	904	914	N/A	INTRINSIC
low complexity region	917	934	N/A	INTRINSIC
low complexity region	1092	1103	N/A	INTRINSIC
Pfam:Ion_trans	1139	1421	1.3e-62	PFAM
Pfam:Ion_trans	1464	1711	3.2e-64	PFAM
Pfam:PKD_channel	1550	1706	2.7e-9	PFAM
Pfam:GPHH	1713	1783	1.9e-39	PFAM
Ca_chan_IQ	1838	1872	1.09e-11	SMART
low complexity region	2041	2051	N/A	INTRINSIC
low complexity region	2093	2115	N/A	INTRINSIC
low complexity region	2277	2293	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

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 is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice deficient in this gene exhibit defects in nociception, memory and learning. They also exhibit hyperactive and hyperaggressive behaviors as well as defects in the the sleep-wake cycle. Deficits in the sympathetic nervous system results in defects in circulatory regulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	T	11: 80,254,767 (GRCm39)	Y351*	probably null	Het
Aadac	G	T	3: 59,943,368 (GRCm39)	R91L	possibly damaging	Het
Adgrg1	T	A	8: 95,738,370 (GRCm39)	F621Y	probably damaging	Het
Ankmy1	G	T	1: 92,812,775 (GRCm39)	D511E	probably benign	Het
Anks4b	A	T	7: 119,782,097 (GRCm39)	D376V	probably damaging	Het
Aox1	G	T	1: 58,100,400 (GRCm39)	C399F	probably benign	Het
Arfgef1	C	T	1: 10,269,067 (GRCm39)		probably null	Het
Arhgef4	G	A	1: 34,849,614 (GRCm39)	V546M	probably damaging	Het
Cab39	T	A	1: 85,765,020 (GRCm39)	V98E	probably damaging	Het
Car15	C	A	16: 17,654,617 (GRCm39)	E134*	probably null	Het
Ccdc80	T	G	16: 44,915,732 (GRCm39)	Y163D	probably damaging	Het
Cdcp3	A	G	7: 130,841,268 (GRCm39)	M537V	probably benign	Het
Col22a1	C	T	15: 71,740,853 (GRCm39)	G513D	unknown	Het
Col8a1	T	C	16: 57,452,805 (GRCm39)	D66G	probably damaging	Het
Crot	C	A	5: 9,018,734 (GRCm39)	S544I	probably damaging	Het
Cubn	G	T	2: 13,435,770 (GRCm39)	P1062Q	probably damaging	Het
Dcc	A	T	18: 71,553,334 (GRCm39)	V774E	probably damaging	Het
Dlgap5	T	A	14: 47,647,818 (GRCm39)	M240L	probably benign	Het
Dlx4	A	G	11: 95,036,261 (GRCm39)	V16A	probably benign	Het
Dnah17	G	T	11: 117,958,373 (GRCm39)	H2703Q	probably benign	Het
Duox2	A	G	2: 122,122,291 (GRCm39)		probably null	Het
Fn1	C	T	1: 71,636,844 (GRCm39)	V168I	probably damaging	Het
Fpr-rs4	A	T	17: 18,242,359 (GRCm39)	D122V	probably damaging	Het
Gas2l2	A	T	11: 83,313,923 (GRCm39)	I463N	probably benign	Het
Ggta1	G	T	2: 35,292,416 (GRCm39)	P297Q	probably damaging	Het
Gpatch3	C	A	4: 133,305,457 (GRCm39)	R231S	probably damaging	Het
Gpc1	T	C	1: 92,782,705 (GRCm39)	Y151H	probably damaging	Het
Gpr141b	A	G	13: 19,913,317 (GRCm39)		noncoding transcript	Het
Gtf2e2	T	C	8: 34,245,973 (GRCm39)	W119R	probably damaging	Het
H2-M10.2	T	C	17: 36,595,253 (GRCm39)	I304V	probably benign	Het
Helq	T	C	5: 100,927,031 (GRCm39)	K685R	probably benign	Het
Hps5	C	T	7: 46,418,712 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,885,818 (GRCm39)	C1186R	probably damaging	Het
Ift43	T	C	12: 86,208,795 (GRCm39)	V158A	possibly damaging	Het
Ift70b	A	G	2: 75,768,586 (GRCm39)	Y56H	probably damaging	Het
Iqca1	A	T	1: 90,070,429 (GRCm39)	I141N	probably damaging	Het
Kat6b	A	G	14: 21,719,149 (GRCm39)	N1276S	probably benign	Het
Kif19a	A	T	11: 114,656,340 (GRCm39)	M1L	possibly damaging	Het
Kif1b	T	G	4: 149,286,969 (GRCm39)	H1241P	probably damaging	Het
Kif26a	T	C	12: 112,144,510 (GRCm39)	V1588A	possibly damaging	Het
Klb	T	A	5: 65,529,842 (GRCm39)		probably null	Het
Krtap26-1	A	T	16: 88,444,131 (GRCm39)	Y163*	probably null	Het
Lefty1	G	T	1: 180,765,199 (GRCm39)	E256*	probably null	Het
Lox	T	C	18: 52,662,271 (GRCm39)	N44S	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mctp1	A	G	13: 76,949,663 (GRCm39)	Y565C	probably damaging	Het
Megf6	C	T	4: 154,349,783 (GRCm39)	A961V	probably benign	Het
Mindy4	A	G	6: 55,253,619 (GRCm39)	K496R	probably benign	Het
Nalcn	A	T	14: 123,744,971 (GRCm39)	H352Q	probably benign	Het
Ncoa5	T	C	2: 164,851,310 (GRCm39)	I188V	possibly damaging	Het
Notum	G	T	11: 120,545,282 (GRCm39)	H426N	probably benign	Het
Or52r1	T	A	7: 102,536,458 (GRCm39)	I301F	possibly damaging	Het
Orm2	A	T	4: 63,282,233 (GRCm39)	D137V	probably damaging	Het
Pabpc2	G	A	18: 39,908,448 (GRCm39)	G571D	probably damaging	Het
Pabpc4	A	G	4: 123,191,735 (GRCm39)	N599S	probably damaging	Het
Pak1ip1	T	C	13: 41,166,080 (GRCm39)	V335A	probably benign	Het
Pcdhb11	A	C	18: 37,556,446 (GRCm39)	D592A	probably damaging	Het
Pmch	C	A	10: 87,927,120 (GRCm39)	T41K	possibly damaging	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Pter	G	T	2: 13,005,753 (GRCm39)	G309*	probably null	Het
Ptprg	T	C	14: 12,219,024 (GRCm38)	V406A	possibly damaging	Het
Ranbp3l	A	T	15: 9,063,184 (GRCm39)	E467V	possibly damaging	Het
Rif1	T	A	2: 51,975,153 (GRCm39)	M354K	probably damaging	Het
Ripk4	C	T	16: 97,549,312 (GRCm39)	C248Y	probably damaging	Het
Slc6a15	T	C	10: 103,253,914 (GRCm39)	W617R	probably damaging	Het
Smyd5	C	T	6: 85,417,155 (GRCm39)	Q178*	probably null	Het
St18	T	A	1: 6,873,248 (GRCm39)	F328I	probably damaging	Het
Supt20	T	A	3: 54,610,570 (GRCm39)	L124*	probably null	Het
Tarbp1	T	A	8: 127,174,223 (GRCm39)	H861L	probably benign	Het
Tars1	A	G	15: 11,390,411 (GRCm39)	M356T	probably benign	Het
Tbc1d10a	A	G	11: 4,162,819 (GRCm39)	T221A	probably damaging	Het
Tead3	A	G	17: 28,553,672 (GRCm39)		probably null	Het
Tprg1	A	G	16: 25,240,985 (GRCm39)	T254A	probably damaging	Het
Trank1	C	A	9: 111,220,545 (GRCm39)	N2427K	probably benign	Het
Tufm	T	C	7: 126,089,036 (GRCm39)	S380P	probably damaging	Het
Tyrobp	C	T	7: 30,114,042 (GRCm39)	R68C	probably damaging	Het
Ubl4b	T	C	3: 107,462,143 (GRCm39)	E39G	possibly damaging	Het
Uggt2	A	T	14: 119,286,863 (GRCm39)	F661I	probably damaging	Het
Upf3b	A	G	X: 36,368,120 (GRCm39)	I144T	probably benign	Het
Usp54	A	T	14: 20,611,320 (GRCm39)	D1165E	probably benign	Het
Vmn2r81	C	T	10: 79,129,281 (GRCm39)	T724I	possibly damaging	Het
Vsig1	A	G	X: 139,837,062 (GRCm39)	I247M	possibly damaging	Het
Zfp110	C	A	7: 12,583,187 (GRCm39)	L612I	probably benign	Het
Zfp318	C	A	17: 46,724,222 (GRCm39)	T2075K	probably damaging	Het
Zfp37	A	G	4: 62,110,122 (GRCm39)	M1T	probably null	Het
Zfp605	T	A	5: 110,276,720 (GRCm39)	C613S	probably damaging	Het
Zfp729a	G	A	13: 67,769,792 (GRCm39)	P146S	possibly damaging	Het
Zfp85	T	C	13: 67,896,791 (GRCm39)	N427S	probably benign	Het

Other mutations in Cacna1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Cacna1b	APN	2	24,541,212 (GRCm39)	nonsense	probably null
IGL00508:Cacna1b	APN	2	24,547,301 (GRCm39)	critical splice donor site	probably null
IGL01085:Cacna1b	APN	2	24,569,006 (GRCm39)	missense	probably damaging	0.98
IGL01310:Cacna1b	APN	2	24,575,794 (GRCm39)	missense	probably damaging	1.00
IGL01361:Cacna1b	APN	2	24,569,107 (GRCm39)	missense	possibly damaging	0.49
IGL01471:Cacna1b	APN	2	24,547,304 (GRCm39)	missense	probably damaging	1.00
IGL01537:Cacna1b	APN	2	24,548,540 (GRCm39)	missense	probably damaging	1.00
IGL01547:Cacna1b	APN	2	24,522,047 (GRCm39)	unclassified	probably benign
IGL01750:Cacna1b	APN	2	24,544,407 (GRCm39)	missense	probably damaging	1.00
IGL01813:Cacna1b	APN	2	24,499,902 (GRCm39)	missense	probably damaging	1.00
IGL01939:Cacna1b	APN	2	24,551,769 (GRCm39)	missense	probably damaging	1.00
IGL01955:Cacna1b	APN	2	24,529,149 (GRCm39)	missense	probably damaging	1.00
IGL01972:Cacna1b	APN	2	24,525,107 (GRCm39)	critical splice donor site	probably null
IGL01987:Cacna1b	APN	2	24,587,579 (GRCm39)	splice site	probably null
IGL02096:Cacna1b	APN	2	24,568,927 (GRCm39)	missense	probably benign	0.01
IGL02111:Cacna1b	APN	2	24,497,003 (GRCm39)	missense	probably damaging	0.96
IGL02254:Cacna1b	APN	2	24,506,827 (GRCm39)	splice site	probably null
IGL03084:Cacna1b	APN	2	24,499,944 (GRCm39)	missense	probably benign
IGL03184:Cacna1b	APN	2	24,548,501 (GRCm39)	critical splice donor site	probably null
IGL03202:Cacna1b	APN	2	24,541,124 (GRCm39)	missense	probably damaging	1.00
IGL03210:Cacna1b	APN	2	24,540,584 (GRCm39)	missense	probably benign	0.00
IGL03402:Cacna1b	APN	2	24,652,821 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Cacna1b	UTSW	2	24,521,953 (GRCm39)	missense	probably damaging	1.00
R0062:Cacna1b	UTSW	2	24,648,343 (GRCm39)	missense	probably damaging	1.00
R0062:Cacna1b	UTSW	2	24,648,343 (GRCm39)	missense	probably damaging	1.00
R0206:Cacna1b	UTSW	2	24,497,492 (GRCm39)	missense	probably damaging	1.00
R0208:Cacna1b	UTSW	2	24,497,492 (GRCm39)	missense	probably damaging	1.00
R0240:Cacna1b	UTSW	2	24,528,669 (GRCm39)	unclassified	probably benign
R0265:Cacna1b	UTSW	2	24,651,856 (GRCm39)	missense	probably damaging	1.00
R0352:Cacna1b	UTSW	2	24,515,244 (GRCm39)	intron	probably benign
R0376:Cacna1b	UTSW	2	24,549,015 (GRCm39)	splice site	probably benign
R0432:Cacna1b	UTSW	2	24,577,716 (GRCm39)	missense	probably damaging	1.00
R0595:Cacna1b	UTSW	2	24,540,001 (GRCm39)	splice site	probably benign
R0660:Cacna1b	UTSW	2	24,544,458 (GRCm39)	missense	probably damaging	1.00
R0664:Cacna1b	UTSW	2	24,544,458 (GRCm39)	missense	probably damaging	1.00
R1107:Cacna1b	UTSW	2	24,587,615 (GRCm39)	missense	probably damaging	1.00
R1184:Cacna1b	UTSW	2	24,577,757 (GRCm39)	splice site	probably null
R1445:Cacna1b	UTSW	2	24,608,148 (GRCm39)	splice site	probably benign
R1446:Cacna1b	UTSW	2	24,596,189 (GRCm39)	missense	probably benign	0.01
R1496:Cacna1b	UTSW	2	24,568,047 (GRCm39)	missense	probably benign
R1614:Cacna1b	UTSW	2	24,580,819 (GRCm39)	missense	possibly damaging	0.88
R1626:Cacna1b	UTSW	2	24,496,721 (GRCm39)	missense	probably damaging	1.00
R1917:Cacna1b	UTSW	2	24,506,891 (GRCm39)	missense	probably null	0.80
R1984:Cacna1b	UTSW	2	24,538,998 (GRCm39)	missense	probably damaging	1.00
R1986:Cacna1b	UTSW	2	24,538,998 (GRCm39)	missense	probably damaging	1.00
R1989:Cacna1b	UTSW	2	24,611,386 (GRCm39)	missense	probably damaging	1.00
R1990:Cacna1b	UTSW	2	24,622,318 (GRCm39)	missense	probably damaging	1.00
R1991:Cacna1b	UTSW	2	24,622,318 (GRCm39)	missense	probably damaging	1.00
R1992:Cacna1b	UTSW	2	24,622,318 (GRCm39)	missense	probably damaging	1.00
R2098:Cacna1b	UTSW	2	24,540,558 (GRCm39)	missense	probably damaging	1.00
R2139:Cacna1b	UTSW	2	24,569,485 (GRCm39)	missense	probably benign	0.07
R2196:Cacna1b	UTSW	2	24,651,800 (GRCm39)	missense	probably damaging	1.00
R2229:Cacna1b	UTSW	2	24,575,816 (GRCm39)	missense	probably damaging	1.00
R2292:Cacna1b	UTSW	2	24,496,632 (GRCm39)	missense	probably benign	0.01
R2570:Cacna1b	UTSW	2	24,496,649 (GRCm39)	nonsense	probably null
R2850:Cacna1b	UTSW	2	24,651,800 (GRCm39)	missense	probably damaging	1.00
R2911:Cacna1b	UTSW	2	24,497,553 (GRCm39)	splice site	probably null
R2937:Cacna1b	UTSW	2	24,496,540 (GRCm39)	missense	probably benign	0.00
R2938:Cacna1b	UTSW	2	24,496,540 (GRCm39)	missense	probably benign	0.00
R3522:Cacna1b	UTSW	2	24,653,055 (GRCm39)	missense	possibly damaging	0.94
R3800:Cacna1b	UTSW	2	24,548,971 (GRCm39)	missense	probably benign	0.15
R4166:Cacna1b	UTSW	2	24,567,923 (GRCm39)	missense	probably benign	0.32
R4300:Cacna1b	UTSW	2	24,525,251 (GRCm39)	missense	probably damaging	1.00
R4366:Cacna1b	UTSW	2	24,592,632 (GRCm39)	missense	probably damaging	1.00
R4493:Cacna1b	UTSW	2	24,542,950 (GRCm39)	missense	probably damaging	0.99
R4494:Cacna1b	UTSW	2	24,542,950 (GRCm39)	missense	probably damaging	0.99
R4522:Cacna1b	UTSW	2	24,544,442 (GRCm39)	missense	probably damaging	1.00
R4612:Cacna1b	UTSW	2	24,516,864 (GRCm39)	nonsense	probably null
R4673:Cacna1b	UTSW	2	24,521,956 (GRCm39)	missense	probably damaging	1.00
R4703:Cacna1b	UTSW	2	24,544,475 (GRCm39)	missense	probably damaging	1.00
R4704:Cacna1b	UTSW	2	24,544,475 (GRCm39)	missense	probably damaging	1.00
R4777:Cacna1b	UTSW	2	24,622,337 (GRCm39)	missense	probably damaging	1.00
R4795:Cacna1b	UTSW	2	24,527,499 (GRCm39)	missense	possibly damaging	0.58
R4796:Cacna1b	UTSW	2	24,527,499 (GRCm39)	missense	possibly damaging	0.58
R4962:Cacna1b	UTSW	2	24,547,378 (GRCm39)	missense	probably damaging	1.00
R4962:Cacna1b	UTSW	2	24,508,330 (GRCm39)	missense	probably damaging	1.00
R4974:Cacna1b	UTSW	2	24,538,535 (GRCm39)	missense	probably damaging	0.99
R4990:Cacna1b	UTSW	2	24,568,886 (GRCm39)	critical splice donor site	probably null
R5109:Cacna1b	UTSW	2	24,580,797 (GRCm39)	missense	possibly damaging	0.88
R5117:Cacna1b	UTSW	2	24,622,340 (GRCm39)	missense	probably damaging	1.00
R5176:Cacna1b	UTSW	2	24,525,143 (GRCm39)	missense	probably damaging	1.00
R5253:Cacna1b	UTSW	2	24,609,964 (GRCm39)	missense	probably damaging	1.00
R5372:Cacna1b	UTSW	2	24,623,971 (GRCm39)	missense	probably damaging	1.00
R5374:Cacna1b	UTSW	2	24,596,228 (GRCm39)	missense	probably damaging	1.00
R5465:Cacna1b	UTSW	2	24,540,438 (GRCm39)	critical splice donor site	probably null
R5568:Cacna1b	UTSW	2	24,497,612 (GRCm39)	missense	probably damaging	1.00
R5580:Cacna1b	UTSW	2	24,540,566 (GRCm39)	missense	probably damaging	1.00
R5677:Cacna1b	UTSW	2	24,569,370 (GRCm39)	missense	possibly damaging	0.64
R6277:Cacna1b	UTSW	2	24,620,808 (GRCm39)	missense	probably damaging	1.00
R6294:Cacna1b	UTSW	2	24,609,069 (GRCm39)	missense	possibly damaging	0.94
R6609:Cacna1b	UTSW	2	24,543,061 (GRCm39)	missense	probably damaging	1.00
R6929:Cacna1b	UTSW	2	24,522,022 (GRCm39)	missense	probably damaging	1.00
R7016:Cacna1b	UTSW	2	24,652,860 (GRCm39)	missense	possibly damaging	0.77
R7112:Cacna1b	UTSW	2	24,580,773 (GRCm39)	missense	probably damaging	0.97
R7162:Cacna1b	UTSW	2	24,590,034 (GRCm39)	missense	probably benign	0.06
R7401:Cacna1b	UTSW	2	24,569,306 (GRCm39)	missense	probably benign	0.00
R7402:Cacna1b	UTSW	2	24,497,671 (GRCm39)	missense	probably benign	0.21
R7442:Cacna1b	UTSW	2	24,497,513 (GRCm39)	missense	probably benign
R7450:Cacna1b	UTSW	2	24,525,147 (GRCm39)	nonsense	probably null
R7481:Cacna1b	UTSW	2	24,506,874 (GRCm39)	missense	probably damaging	0.99
R7792:Cacna1b	UTSW	2	24,567,977 (GRCm39)	missense	probably damaging	0.99
R7999:Cacna1b	UTSW	2	24,540,638 (GRCm39)	missense	probably damaging	1.00
R8041:Cacna1b	UTSW	2	24,547,311 (GRCm39)	missense	probably damaging	1.00
R8084:Cacna1b	UTSW	2	24,575,808 (GRCm39)	missense	probably benign	0.21
R8147:Cacna1b	UTSW	2	24,569,188 (GRCm39)	missense	probably damaging	0.97
R8170:Cacna1b	UTSW	2	24,568,886 (GRCm39)	critical splice donor site	probably null
R8371:Cacna1b	UTSW	2	24,610,036 (GRCm39)	missense	possibly damaging	0.46
R8391:Cacna1b	UTSW	2	24,596,212 (GRCm39)	missense	probably damaging	1.00
R8723:Cacna1b	UTSW	2	24,548,510 (GRCm39)	missense	probably damaging	1.00
R8836:Cacna1b	UTSW	2	24,542,982 (GRCm39)	missense	possibly damaging	0.93
R8856:Cacna1b	UTSW	2	24,569,530 (GRCm39)	missense	probably benign	0.00
R8922:Cacna1b	UTSW	2	24,622,340 (GRCm39)	missense	possibly damaging	0.94
R8940:Cacna1b	UTSW	2	24,653,084 (GRCm39)	unclassified	probably benign
R9140:Cacna1b	UTSW	2	24,525,224 (GRCm39)	missense	probably damaging	1.00
R9414:Cacna1b	UTSW	2	24,538,514 (GRCm39)	missense	probably damaging	0.99
R9476:Cacna1b	UTSW	2	24,540,058 (GRCm39)	missense	probably damaging	0.99
R9510:Cacna1b	UTSW	2	24,540,058 (GRCm39)	missense	probably damaging	0.99
R9520:Cacna1b	UTSW	2	24,651,799 (GRCm39)	missense	probably damaging	0.97
R9566:Cacna1b	UTSW	2	24,498,092 (GRCm39)	nonsense	probably null
R9671:Cacna1b	UTSW	2	24,596,282 (GRCm39)	missense	probably benign	0.00
R9757:Cacna1b	UTSW	2	24,609,113 (GRCm39)	missense	probably damaging	0.99
R9784:Cacna1b	UTSW	2	24,651,801 (GRCm39)	missense	possibly damaging	0.88
R9797:Cacna1b	UTSW	2	24,508,287 (GRCm39)	missense	probably damaging	1.00
Z1088:Cacna1b	UTSW	2	24,623,957 (GRCm39)	missense	probably damaging	1.00
Z1088:Cacna1b	UTSW	2	24,551,856 (GRCm39)	missense	probably damaging	1.00
Z1176:Cacna1b	UTSW	2	24,516,896 (GRCm39)	nonsense	probably null
Z1177:Cacna1b	UTSW	2	24,569,000 (GRCm39)	missense	probably damaging	0.97
Z1177:Cacna1b	UTSW	2	24,551,802 (GRCm39)	missense	probably damaging	1.00
Z1177:Cacna1b	UTSW	2	24,528,689 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CACAGGACTACCCATAGAGCCTGAG -3'
(R):5'- TGCTGACGGCGTCCGAACTAAC -3'

Sequencing Primer
(F):5'- TCTCTTCAAGAGAAATGCCCCTC -3'
(R):5'- TGGCTGTCCCCAGAACTAGG -3'

Posted On

2013-04-24