Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Cacna1b'

252313

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

040428-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24493899-24653164 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24496649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 2307 (L2307*)

Ref Sequence

ENSEMBL: ENSMUSP00000110090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041342] [ENSMUST00000070864] [ENSMUST00000100348] [ENSMUST00000102939] [ENSMUST00000114447] [ENSMUST00000131861] [ENSMUST00000133892]

AlphaFold

O55017

Predicted Effect

probably null
Transcript: ENSMUST00000041342
AA Change: L2306*

SMART Domains

Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: L2306*

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 null
Transcript: ENSMUST00000070864
AA Change: L2267*

SMART Domains

Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: L2267*

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 null
Transcript: ENSMUST00000100348
AA Change: L2307*

SMART Domains

Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: L2307*

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 null
Transcript: ENSMUST00000102939
AA Change: L2304*

SMART Domains

Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: L2304*

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 null
Transcript: ENSMUST00000114447
AA Change: L2307*

SMART Domains

Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: L2307*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125798

Predicted Effect

probably damaging
Transcript: ENSMUST00000131861
AA Change: W89R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141653
Gene: ENSMUSG00000004113
AA Change: W89R

Domain	Start	End	E-Value	Type
low complexity region	62	77	N/A	INTRINSIC
low complexity region	96	110	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157946

Predicted Effect

probably benign
Transcript: ENSMUST00000133892

SMART Domains

Protein: ENSMUSP00000115285
Gene: ENSMUSG00000004113

Domain	Start	End	E-Value	Type
Ca_chan_IQ	23	57	1.09e-11	SMART
low complexity region	215	225	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,768,267 (GRCm39)	N763I	probably damaging	Het
Actr8	T	C	14: 29,709,239 (GRCm39)	V281A	probably damaging	Het
Adam1b	A	T	5: 121,639,811 (GRCm39)	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,816,657 (GRCm39)	Q77L	probably damaging	Het
Adgre4	T	A	17: 56,085,878 (GRCm39)	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,192,163 (GRCm39)	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,677,320 (GRCm39)	T434S	probably benign	Het
Bcl10	T	A	3: 145,638,785 (GRCm39)	N142K	probably benign	Het
C1qc	T	C	4: 136,617,402 (GRCm39)	I231M	probably benign	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 179,977,742 (GRCm39)	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,094,618 (GRCm39)	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cspg4b	C	T	13: 113,455,121 (GRCm39)	T389I	probably benign	Het
Cyp2c50	C	G	19: 40,078,764 (GRCm39)	H90D	probably benign	Het
Dach1	A	G	14: 98,138,847 (GRCm39)	M480T	probably benign	Het
Dennd1a	A	T	2: 37,734,795 (GRCm39)	F57L	probably damaging	Het
Dhcr24	T	C	4: 106,443,029 (GRCm39)	F355L	probably benign	Het
Drc1	A	G	5: 30,512,609 (GRCm39)	R339G	probably damaging	Het
Efcab3	T	A	11: 104,624,490 (GRCm39)	S840R	probably damaging	Het
Efna5	A	T	17: 63,188,023 (GRCm39)	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,705,753 (GRCm39)	V811A	probably damaging	Het
Fam135a	A	T	1: 24,061,045 (GRCm39)	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,924,740 (GRCm39)	R28L	probably damaging	Het
Gm9936	A	G	5: 114,995,605 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Itgal	T	C	7: 126,913,268 (GRCm39)	F622L	probably damaging	Het
Kalrn	C	T	16: 34,130,865 (GRCm39)	E451K	probably damaging	Het
Kat2a	A	T	11: 100,601,648 (GRCm39)	F256I	probably damaging	Het
Lama4	A	T	10: 38,951,354 (GRCm39)	D1033V	possibly damaging	Het
Lama4	T	A	10: 38,982,043 (GRCm39)	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,659,358 (GRCm39)	Y212H	probably damaging	Het
Lsm10	T	C	4: 125,991,716 (GRCm39)	L24P	probably damaging	Het
Mtcl3	A	T	10: 29,022,761 (GRCm39)	Q36L	possibly damaging	Het
Mtfp1	T	C	11: 4,044,504 (GRCm39)	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,254,678 (GRCm39)	D399E	probably benign	Het
Ncor2	T	C	5: 125,105,864 (GRCm39)		probably null	Het
Nek9	A	C	12: 85,379,320 (GRCm39)	Y195*	probably null	Het
Npas1	T	C	7: 16,208,628 (GRCm39)	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,211,741 (GRCm39)	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,943,503 (GRCm39)	N10S	probably benign	Het
Or2ag12	A	G	7: 106,276,874 (GRCm39)	I273T	probably benign	Het
Or55b10	T	C	7: 102,143,106 (GRCm39)	N292S	probably damaging	Het
Or7e165	T	A	9: 19,695,305 (GRCm39)	L292Q	probably damaging	Het
Pcdha4	A	T	18: 37,086,665 (GRCm39)	T283S	probably benign	Het
Pdk1	A	C	2: 71,703,904 (GRCm39)	D64A	possibly damaging	Het
Pramel17	T	C	4: 101,694,443 (GRCm39)	T147A	probably benign	Het
Ptpdc1	C	T	13: 48,739,539 (GRCm39)	A631T	probably benign	Het
Rasal2	G	T	1: 156,988,870 (GRCm39)	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,336,787 (GRCm39)	V55E	possibly damaging	Het
Shank2	A	T	7: 143,622,507 (GRCm39)	I214F	probably damaging	Het
Slfn14	T	C	11: 83,174,433 (GRCm39)	N186S	probably benign	Het
Sptbn5	A	T	2: 119,879,121 (GRCm39)		noncoding transcript	Het
Stradb	C	T	1: 59,027,743 (GRCm39)	T91I	probably damaging	Het
Sulf2	T	C	2: 165,927,721 (GRCm39)	I359V	probably benign	Het
Tbl3	A	T	17: 24,922,290 (GRCm39)	M405K	possibly damaging	Het
Tecta	G	T	9: 42,243,848 (GRCm39)	D2001E	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgfbi	T	A	13: 56,786,521 (GRCm39)		probably null	Het
Tmem132a	A	T	19: 10,837,106 (GRCm39)	L612Q	probably null	Het
Tnf	T	C	17: 35,419,476 (GRCm39)	N102S	probably damaging	Het
Trib3	A	T	2: 152,185,156 (GRCm39)	V31D	probably benign	Het
Ube2q2	T	A	9: 55,099,140 (GRCm39)	F248L	probably benign	Het
Usf3	T	C	16: 44,036,744 (GRCm39)	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,542,307 (GRCm39)	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,447,585 (GRCm39)	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,318,673 (GRCm39)	N451T	probably damaging	Het
Zfp593	C	A	4: 133,972,869 (GRCm39)		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
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
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
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'- CCATGTCCCTCTAAGAAAGGG -3'
(R):5'- TGGCTCTGACCCTTACCTAG -3'

Sequencing Primer
(F):5'- CCCTCTAAGAAAGGGCTTTATTAGTC -3'
(R):5'- TTACCTAGGGCAGCGTCTG -3'

Posted On

2014-12-04