Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Cacna1b'

679299

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

068767-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8922 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24493899-24653164 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24622340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 215 (S215A)

Ref Sequence

ENSEMBL: ENSMUSP00000037416 (fasta)

Gene Model

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

AlphaFold

O55017

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041342
AA Change: S215A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037416
Gene: ENSMUSG00000004113
AA Change: S215A

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: S215A

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

SMART Domains

Protein: ENSMUSP00000063236
Gene: ENSMUSG00000004113
AA Change: S215A

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: S215A

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

SMART Domains

Protein: ENSMUSP00000097920
Gene: ENSMUSG00000004113
AA Change: S215A

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

possibly damaging
Transcript: ENSMUST00000102939
AA Change: S215A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100003
Gene: ENSMUSG00000004113
AA Change: S215A

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: S215A

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

SMART Domains

Protein: ENSMUSP00000110090
Gene: ENSMUSG00000004113
AA Change: S215A

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: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,295,177 (GRCm39)	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,328,835 (GRCm39)		probably null	Het
Acot1	C	T	12: 84,064,085 (GRCm39)	Q398*	probably null	Het
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Aldh1l1	T	A	6: 90,536,256 (GRCm39)	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,223,417 (GRCm39)	E871K	probably damaging	Het
Aspg	A	T	12: 112,089,830 (GRCm39)	D456V	possibly damaging	Het
Car3	A	T	3: 14,931,952 (GRCm39)	T108S		Het
Ccdc91	C	T	6: 147,412,358 (GRCm39)	Q23*	probably null	Het
Cd300lg	A	T	11: 101,945,028 (GRCm39)	I413F	probably damaging	Het
Ces2h	T	A	8: 105,744,756 (GRCm39)	M378K	probably benign	Het
Cfap44	C	T	16: 44,272,030 (GRCm39)	T1261I	probably benign	Het
Cir1	G	A	2: 73,118,053 (GRCm39)	S164L	possibly damaging	Het
Clasp2	A	T	9: 113,725,728 (GRCm39)	K790*	probably null	Het
Cpne8	A	T	15: 90,456,213 (GRCm39)	D183E	probably damaging	Het
Dhrs13	A	G	11: 77,923,425 (GRCm39)	I48V	possibly damaging	Het
Dpp8	G	T	9: 64,981,793 (GRCm39)	V692L	probably benign	Het
Exoc2	A	T	13: 31,055,838 (GRCm39)	I660N	probably benign	Het
Exosc5	T	C	7: 25,363,673 (GRCm39)	V88A	probably benign	Het
Extl3	G	A	14: 65,292,255 (GRCm39)	T856I	probably damaging	Het
Flnc	T	C	6: 29,456,835 (GRCm39)	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,923,295 (GRCm39)	I52T	probably benign	Het
Gm8947	C	T	1: 151,068,655 (GRCm39)	R163C	probably benign	Het
Golga7	A	T	8: 23,740,288 (GRCm39)	C81S	probably damaging	Het
Grik1	A	C	16: 87,693,167 (GRCm39)	S879A	unknown	Het
Helz	A	G	11: 107,539,985 (GRCm39)	T1002A	possibly damaging	Het
Hes1	T	A	16: 29,884,725 (GRCm39)	L62*	probably null	Het
Hmgn2-ps	A	G	8: 73,058,953 (GRCm39)	S25P	probably benign	Het
Hnrnpdl	A	T	5: 100,184,419 (GRCm39)	Y371*	probably null	Het
Ifna11	T	C	4: 88,738,431 (GRCm39)	V79A	probably benign	Het
Itga4	A	G	2: 79,085,938 (GRCm39)		probably benign	Het
Kap	T	C	6: 133,827,054 (GRCm39)	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,231 (GRCm39)	K342E	probably damaging	Het
Lrba	A	G	3: 86,263,973 (GRCm39)	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,270,233 (GRCm39)	H819Y	probably damaging	Het
Mmp21	T	A	7: 133,276,000 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,377,928 (GRCm39)	V590A	probably benign	Het
Myom3	T	C	4: 135,492,222 (GRCm39)	L122P	probably damaging	Het
Nat10	T	C	2: 103,582,938 (GRCm39)	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,163,939 (GRCm39)	V197A	unknown	Het
Opn4	A	C	14: 34,314,955 (GRCm39)	S439R	probably benign	Het
Or12j3	T	A	7: 139,953,389 (GRCm39)	I45F	possibly damaging	Het
Or4c3d	C	A	2: 89,882,695 (GRCm39)		probably benign	Het
Or56a41	C	A	7: 104,740,469 (GRCm39)	V126L	probably benign	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,957 (GRCm39)	D231E	unknown	Het
Pik3c2a	G	T	7: 116,017,659 (GRCm39)	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,728,853 (GRCm39)	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,552,176 (GRCm39)	A226V	possibly damaging	Het
Ppl	T	C	16: 4,923,815 (GRCm39)	E191G	probably benign	Het
Prkag1	T	C	15: 98,712,147 (GRCm39)	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,319,194 (GRCm39)	I871T	probably benign	Het
Rhd	T	C	4: 134,612,627 (GRCm39)	S293P	probably damaging	Het
Rprd2	G	T	3: 95,687,896 (GRCm39)	T252K	probably damaging	Het
Scn5a	C	A	9: 119,363,766 (GRCm39)	R458L	probably benign	Het
Scrib	C	T	15: 75,933,587 (GRCm39)		probably null	Het
Sec24d	G	A	3: 123,144,488 (GRCm39)	G655E	probably damaging	Het
Serpine3	A	G	14: 62,910,503 (GRCm39)	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc44a1	A	G	4: 53,544,545 (GRCm39)	K419E	probably damaging	Het
Speer4a3	C	T	5: 26,156,594 (GRCm39)	M128I	possibly damaging	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tcstv2a	A	G	13: 120,725,666 (GRCm39)	E110G	probably benign	Het
Tesmin	A	G	19: 3,454,163 (GRCm39)	K346E	probably damaging	Het
Thpo	A	T	16: 20,547,680 (GRCm39)	L6Q	unknown	Het
Tlr2	T	A	3: 83,745,075 (GRCm39)	E336V	probably benign	Het
Tmem167b	A	G	3: 108,467,541 (GRCm39)	L35P	probably benign	Het
Topaz1	A	T	9: 122,625,101 (GRCm39)	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,233,636 (GRCm39)	R434L	possibly damaging	Het
Trim68	T	C	7: 102,327,550 (GRCm39)	I468V	probably benign	Het
Ttn	C	A	2: 76,542,628 (GRCm39)	V33453F	probably benign	Het
Ubac1	A	T	2: 25,896,621 (GRCm39)	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,310,825 (GRCm39)	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Zbtb16	A	G	9: 48,743,857 (GRCm39)	Y152H	probably benign	Het
Zbtb20	A	T	16: 43,397,968 (GRCm39)	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422 (GRCm39)	M512T	possibly 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
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
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'- CTAGGTCTGGAAGCTCAGAAG -3'
(R):5'- AGACACTGAATTCCCTGTTCC -3'

Sequencing Primer
(F):5'- AAGCTCAGAAGGCCCTCTG -3'
(R):5'- ATTCCCTGTCCCGAATTCAGG -3'

Posted On

2021-08-02