Mutagenetix > Incidental Mutation

Incidental Mutation 'R1984:Cacna1b'

220267

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

039996-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1984 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24493899-24653164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24538998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1488 (Y1488N)

Ref Sequence

ENSEMBL: ENSMUSP00000100003 (fasta)

Gene Model

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

AlphaFold

O55017

Predicted Effect

probably damaging
Transcript: ENSMUST00000041342
AA Change: Y1492N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: Y1492N

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: Y1487N

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

SMART Domains

Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: Y1487N

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

probably damaging
Transcript: ENSMUST00000100348
AA Change: Y1493N

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

SMART Domains

Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: Y1493N

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: Y1488N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: Y1488N

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

probably damaging
Transcript: ENSMUST00000114447
AA Change: Y1493N

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

SMART Domains

Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: Y1493N

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,778 (GRCm39)	L81H	probably damaging	Het
Abca8b	A	G	11: 109,868,667 (GRCm39)	C166R	probably damaging	Het
Adgrv1	T	A	13: 81,671,868 (GRCm39)	E2242D	probably damaging	Het
Agap1	T	C	1: 89,694,045 (GRCm39)	S448P	probably benign	Het
Aldh1a2	T	C	9: 71,160,334 (GRCm39)	L120P	probably damaging	Het
Alkbh2	T	C	5: 114,262,115 (GRCm39)	N205S	probably benign	Het
Anapc1	C	A	2: 128,511,608 (GRCm39)	G493C	possibly damaging	Het
Aox3	A	T	1: 58,192,220 (GRCm39)	I497F	possibly damaging	Het
Atp2b1	T	C	10: 98,850,354 (GRCm39)	S826P	possibly damaging	Het
Atp8b4	T	A	2: 126,164,928 (GRCm39)	R1129S	probably damaging	Het
Bche	T	A	3: 73,609,159 (GRCm39)	Q89L	probably benign	Het
Bche	G	T	3: 73,609,160 (GRCm39)	Q89K	probably benign	Het
Bcl9	T	C	3: 97,121,050 (GRCm39)	K171E	probably damaging	Het
Dock8	A	G	19: 25,098,545 (GRCm39)	N623S	probably null	Het
Dok6	T	C	18: 89,578,234 (GRCm39)	E61G	probably damaging	Het
Duxf4	T	A	10: 58,071,785 (GRCm39)	Q143L	possibly damaging	Het
Esf1	A	T	2: 139,990,806 (GRCm39)	D559E	possibly damaging	Het
F11r	A	G	1: 171,289,438 (GRCm39)	I254V	probably benign	Het
Fkrp	A	G	7: 16,545,802 (GRCm39)	V20A	probably benign	Het
Fscb	T	C	12: 64,521,457 (GRCm39)	E3G	unknown	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hspa4l	T	C	3: 40,714,833 (GRCm39)	V156A	probably damaging	Het
Igfn1	A	G	1: 135,889,782 (GRCm39)	S2422P	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Isg15	T	C	4: 156,284,250 (GRCm39)	I93V	probably benign	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Marchf6	A	T	15: 31,469,792 (GRCm39)	L726Q	probably damaging	Het
Megf6	G	T	4: 154,352,124 (GRCm39)	G1210C	probably damaging	Het
Msh2	C	T	17: 88,026,724 (GRCm39)	T740I	probably damaging	Het
Myh14	T	C	7: 44,288,446 (GRCm39)	Y514C	probably damaging	Het
Myorg	C	A	4: 41,497,501 (GRCm39)	A710S	possibly damaging	Het
Nedd1	T	C	10: 92,550,022 (GRCm39)	T88A	possibly damaging	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Obox1	A	T	7: 15,289,135 (GRCm39)	I17L	probably benign	Het
Or11g24	A	T	14: 50,662,848 (GRCm39)	I291L	possibly damaging	Het
Palb2	A	C	7: 121,726,303 (GRCm39)	H522Q	probably damaging	Het
Pde4c	C	T	8: 71,177,191 (GRCm39)	T6M	probably damaging	Het
Plekhg1	A	G	10: 3,908,181 (GRCm39)	K97E	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Qrich1	T	C	9: 108,411,246 (GRCm39)	V257A	probably damaging	Het
Rpl14	A	G	9: 120,401,253 (GRCm39)	D32G	possibly damaging	Het
Senp8	A	G	9: 59,644,721 (GRCm39)	V132A	possibly damaging	Het
Serac1	A	G	17: 6,095,964 (GRCm39)		probably null	Het
Sh2d3c	T	A	2: 32,639,256 (GRCm39)	C295*	probably null	Het
Stab1	A	G	14: 30,872,605 (GRCm39)	F1142L	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tg	A	G	15: 66,554,691 (GRCm39)	E702G	probably benign	Het
Tgif2lx2	A	T	X: 117,337,690 (GRCm39)	K218*	probably null	Het
Tpp1	C	A	7: 105,400,905 (GRCm39)	V41L	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp683	T	C	4: 133,784,766 (GRCm39)	F338L	probably damaging	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
R0383:Cacna1b	UTSW	2	24,651,856 (GRCm39)	missense	probably damaging	1.00
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
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'- TAAGTGCTGCACAGGCCATTC -3'
(R):5'- ATGCTGCCTGCCTGTGTAATC -3'

Sequencing Primer
(F):5'- CCATTCAAAAACAGGGAAGGATGCC -3'
(R):5'- CTGATTTGTAGCTGAGGCACTGAAAG -3'

Posted On

2014-08-25