Mutagenetix > Incidental Mutation

Incidental Mutation 'R9520:Cacna1b'

718798

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24493899-24653164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24651799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 127 (S127T)

Ref Sequence

ENSEMBL: ENSMUSP00000037416 (fasta)

Gene Model

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

AlphaFold

O55017

Predicted Effect

probably damaging
Transcript: ENSMUST00000041342
AA Change: S127T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: S127T

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: S127T

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

SMART Domains

Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: S127T

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: S127T

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: S127T

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: S127T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: S127T

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: S127T

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: S127T

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: 100.0%
3x: 99.9%
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 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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Ackr3	T	A	1: 90,141,971 (GRCm39)	Y143*	probably null	Het
Actn1	A	T	12: 80,240,417 (GRCm39)	D223E	probably damaging	Het
Apcdd1	C	T	18: 63,083,190 (GRCm39)	T340I	possibly damaging	Het
B4galnt1	G	A	10: 127,006,580 (GRCm39)	E375K	probably damaging	Het
Cbr3	A	G	16: 93,487,318 (GRCm39)	D167G	probably benign	Het
Cdcp1	A	T	9: 123,012,736 (GRCm39)	N270K	possibly damaging	Het
Cep131	A	G	11: 119,968,157 (GRCm39)	V128A	probably benign	Het
Cfhr4	A	G	1: 139,682,135 (GRCm39)	S154P	probably damaging	Het
Chek1	T	C	9: 36,625,121 (GRCm39)	E320G	probably benign	Het
Cit	T	A	5: 116,079,954 (GRCm39)	L755*	probably null	Het
Clstn2	A	T	9: 97,414,763 (GRCm39)	L377Q	probably damaging	Het
Cpne9	A	T	6: 113,281,413 (GRCm39)	D498V	probably damaging	Het
Csad	A	G	15: 102,097,102 (GRCm39)	M1T	probably null	Het
Csmd3	A	G	15: 47,561,608 (GRCm39)	F1323L		Het
Dennd2c	A	T	3: 103,044,484 (GRCm39)	Q355L	probably benign	Het
Fbxw10	G	A	11: 62,750,842 (GRCm39)	S475N	possibly damaging	Het
Foxi3	A	G	6: 70,937,676 (GRCm39)	S303G	probably damaging	Het
Glra1	G	C	11: 55,405,897 (GRCm39)	F372L	probably benign	Het
Gm19410	A	G	8: 36,262,637 (GRCm39)	E858G	probably benign	Het
Gm7168	T	A	17: 14,169,506 (GRCm39)	V291D	probably benign	Het
Gpr15lg	T	A	14: 36,829,343 (GRCm39)	T47S	possibly damaging	Het
Grin2b	T	C	6: 135,710,399 (GRCm39)	Y1049C	probably damaging	Het
Grm2	A	G	9: 106,525,230 (GRCm39)	L24P		Het
Guca1a	T	A	17: 47,711,335 (GRCm39)	I4F	probably benign	Het
H6pd	T	C	4: 150,080,375 (GRCm39)	I157V	possibly damaging	Het
Hectd3	T	A	4: 116,857,882 (GRCm39)	M605K	probably damaging	Het
Hsf2	T	A	10: 57,371,996 (GRCm39)	N32K	probably damaging	Het
Hspa1l	T	A	17: 35,196,972 (GRCm39)	V337D	probably damaging	Het
Iigp1	A	T	18: 60,523,451 (GRCm39)	T190S	probably benign	Het
Iqgap1	T	C	7: 80,393,869 (GRCm39)	R622G	probably benign	Het
Lce1a1	A	T	3: 92,554,109 (GRCm39)	C122S	unknown	Het
Lrfn4	C	T	19: 4,664,237 (GRCm39)	R99H	probably damaging	Het
Lsm1	T	A	8: 26,283,744 (GRCm39)	V52E	possibly damaging	Het
Malrd1	G	A	2: 16,079,631 (GRCm39)	V1783I	unknown	Het
Mast4	T	C	13: 102,925,532 (GRCm39)	K464R	probably damaging	Het
Mpdz	T	C	4: 81,304,555 (GRCm39)	D115G	probably benign	Het
Mtmr3	A	T	11: 4,441,131 (GRCm39)	H507Q	probably damaging	Het
Mycbp2	T	A	14: 103,497,705 (GRCm39)	M956L	probably benign	Het
Myo3b	A	G	2: 70,062,753 (GRCm39)	T346A	possibly damaging	Het
Ndrg2	T	C	14: 52,146,381 (GRCm39)	I140V	probably benign	Het
Nsf	A	G	11: 103,804,709 (GRCm39)	L144P	probably damaging	Het
Or2a25	T	C	6: 42,889,051 (GRCm39)	V198A	probably damaging	Het
Or8d2b	C	T	9: 38,789,039 (GRCm39)	T189I	probably benign	Het
Pck1	G	A	2: 172,997,854 (GRCm39)	V308M	probably damaging	Het
Phip	C	T	9: 82,753,437 (GRCm39)	R1769K	possibly damaging	Het
Plekhg1	T	A	10: 3,906,822 (GRCm39)	C635S		Het
Ppp4r4	A	G	12: 103,500,378 (GRCm39)	I58V	probably benign	Het
Prkacb	T	C	3: 146,456,289 (GRCm39)	Y170C	probably damaging	Het
Rnf145	A	T	11: 44,452,336 (GRCm39)	E438D	possibly damaging	Het
Rnf207	T	C	4: 152,396,234 (GRCm39)	Y510C	probably damaging	Het
Rph3a	C	T	5: 121,101,903 (GRCm39)	C111Y	probably damaging	Het
Scaf8	C	T	17: 3,248,285 (GRCm39)	R1203W	probably damaging	Het
Sec23a	T	G	12: 59,031,974 (GRCm39)	I448L	probably benign	Het
Slc22a27	T	C	19: 7,843,227 (GRCm39)	Y492C	possibly damaging	Het
Supv3l1	T	C	10: 62,268,181 (GRCm39)	K555E	probably damaging	Het
Tdrd3	T	C	14: 87,724,696 (GRCm39)	S372P	probably damaging	Het
Tgm1	A	G	14: 55,942,296 (GRCm39)	F685S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r11	T	C	5: 109,201,455 (GRCm39)	T350A	probably benign	Het
Vmn2r25	A	T	6: 123,830,066 (GRCm39)	Y28*	probably null	Het
Vmn2r85	T	A	10: 130,254,993 (GRCm39)	I564L	probably benign	Het
Wdr26	G	T	1: 181,036,587 (GRCm39)	T183K	probably benign	Het
Yjefn3	A	T	8: 70,341,969 (GRCm39)	Y97N	probably damaging	Het
Zbtb38	A	T	9: 96,568,104 (GRCm39)	D993E	probably damaging	Het
Zbtb45	T	C	7: 12,742,012 (GRCm39)	Q82R	probably damaging	Het
Zdhhc8	A	G	16: 18,045,044 (GRCm39)	V254A	probably benign	Het
Zfp648	A	G	1: 154,081,221 (GRCm39)	D460G	probably benign	Het
Zfp760	T	G	17: 21,941,036 (GRCm39)	N70K	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
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
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'- TCAGACTCAATTGGCCACCC -3'
(R):5'- TTGGCTGTCCCCAGAACTAG -3'

Sequencing Primer
(F):5'- AATTGGCCACCCCAGCTTC -3'
(R):5'- TGTCGGCCAGCAGTACTCAG -3'

Posted On

2022-07-18