Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Cacna1a'

197970

Institutional Source

Beutler Lab

Gene Symbol

Cacna1a

Ensembl Gene

ENSMUSG00000034656

Gene Name

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

Synonyms

Cacnl1a4, alpha1A, SCA6, nmf352, Ccha1a

MMRRC Submission

039523-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R1470 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

84388440-84640246 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 84514950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121390] [ENSMUST00000122053]

AlphaFold

P97445

Predicted Effect

probably benign
Transcript: ENSMUST00000121390

SMART Domains

Protein: ENSMUSP00000112436
Gene: ENSMUSG00000034656

Domain	Start	End	E-Value	Type
low complexity region	9	47	N/A	INTRINSIC
Pfam:Ion_trans	99	373	1.5e-69	PFAM
Pfam:Ion_trans	488	727	1.2e-54	PFAM
Pfam:PKD_channel	578	721	6.6e-8	PFAM
low complexity region	920	959	N/A	INTRINSIC
low complexity region	977	987	N/A	INTRINSIC
low complexity region	1074	1093	N/A	INTRINSIC
low complexity region	1143	1168	N/A	INTRINSIC
Pfam:Ion_trans	1194	1472	4.9e-64	PFAM
Pfam:Ion_trans	1516	1773	2.8e-64	PFAM
Pfam:GPHH	1775	1844	5.6e-39	PFAM
Ca_chan_IQ	1899	1933	1.8e-12	SMART
AT_hook	2053	2065	2.02e0	SMART
low complexity region	2101	2113	N/A	INTRINSIC
low complexity region	2153	2179	N/A	INTRINSIC
low complexity region	2213	2236	N/A	INTRINSIC
low complexity region	2253	2282	N/A	INTRINSIC
low complexity region	2314	2325	N/A	INTRINSIC
low complexity region	2342	2357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122053

SMART Domains

Protein: ENSMUSP00000114055
Gene: ENSMUSG00000034656

Domain	Start	End	E-Value	Type
low complexity region	9	47	N/A	INTRINSIC
Pfam:Ion_trans	91	314	4.5e-58	PFAM
PDB:4DEX\|B	317	427	5e-45	PDB
Pfam:Ion_trans	476	668	6.4e-46	PFAM
Pfam:PKD_channel	530	675	7.7e-8	PFAM
low complexity region	873	912	N/A	INTRINSIC
low complexity region	930	940	N/A	INTRINSIC
low complexity region	1027	1046	N/A	INTRINSIC
low complexity region	1096	1121	N/A	INTRINSIC
Pfam:Ion_trans	1183	1414	2.8e-54	PFAM
Pfam:Ion_trans	1504	1714	3.2e-60	PFAM
Ca_chan_IQ	1852	1886	1.8e-12	SMART
AT_hook	2006	2018	2.02e0	SMART
low complexity region	2054	2066	N/A	INTRINSIC
low complexity region	2106	2132	N/A	INTRINSIC
low complexity region	2166	2189	N/A	INTRINSIC
low complexity region	2206	2235	N/A	INTRINSIC
low complexity region	2267	2278	N/A	INTRINSIC
low complexity region	2295	2310	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135382

Predicted Effect

probably benign
Transcript: ENSMUST00000215756

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (125/129)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 142 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	T	C	15: 98,585,261 (GRCm38)		probably benign	Het
4932438A13Rik	T	C	3: 36,998,331 (GRCm38)	M3060T	probably benign	Het
Aak1	T	A	6: 86,967,355 (GRCm38)	S749T	unknown	Het
Abcb4	A	T	5: 8,940,968 (GRCm38)	I843F	probably damaging	Het
Abcb6	A	T	1: 75,172,679 (GRCm38)		probably benign	Het
AC161516.2	G	T	5: 67,946,397 (GRCm38)		probably benign	Het
AC238840.1	A	T	7: 38,767,953 (GRCm38)		noncoding transcript	Het
Actr8	T	A	14: 29,986,969 (GRCm38)	H244Q	possibly damaging	Het
Acyp2	A	G	11: 30,506,452 (GRCm38)		probably benign	Het
Adgrv1	A	G	13: 81,382,298 (GRCm38)	Y5886H	probably benign	Het
Afap1	C	T	5: 35,961,737 (GRCm38)		probably benign	Het
Agk	T	A	6: 40,386,817 (GRCm38)	W244R	probably damaging	Het
Akirin1	T	A	4: 123,738,090 (GRCm38)		probably benign	Het
Ankrd11	C	A	8: 122,899,724 (GRCm38)	V161L	probably damaging	Het
Arap3	T	C	18: 37,989,196 (GRCm38)		probably null	Het
Arhgap29	A	G	3: 121,992,319 (GRCm38)		probably benign	Het
Armc3	A	G	2: 19,238,736 (GRCm38)	M88V	probably benign	Het
Atp13a5	G	T	16: 29,349,015 (GRCm38)	P109T	probably benign	Het
Avpr1b	T	A	1: 131,600,585 (GRCm38)	V282D	probably damaging	Het
Baz2b	T	C	2: 59,978,546 (GRCm38)	K120E	possibly damaging	Het
Cacng6	G	A	7: 3,424,888 (GRCm38)	C76Y	probably damaging	Het
Cactin	G	T	10: 81,323,151 (GRCm38)	E279*	probably null	Het
Car9	A	G	4: 43,510,222 (GRCm38)	Y268C	probably damaging	Het
Ccdc146	T	A	5: 21,319,566 (GRCm38)	I263F	probably damaging	Het
Cdc16	A	T	8: 13,758,992 (GRCm38)		probably benign	Het
Cdh16	T	G	8: 104,618,371 (GRCm38)	S429R	probably benign	Het
Cep250	A	G	2: 155,991,075 (GRCm38)	E1639G	probably damaging	Het
Ces1d	A	T	8: 93,195,021 (GRCm38)	V38D	possibly damaging	Het
Chd1	A	T	17: 15,726,283 (GRCm38)	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,514,468 (GRCm38)	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,634,722 (GRCm38)	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,259,519 (GRCm38)	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm38)		probably benign	Het
Col20a1	C	T	2: 180,994,960 (GRCm38)	H245Y	probably benign	Het
Coq8b	A	T	7: 27,252,309 (GRCm38)	T399S	probably benign	Het
Cpn2	A	G	16: 30,260,185 (GRCm38)	S233P	probably benign	Het
Cryz	G	A	3: 154,606,476 (GRCm38)	G70D	probably damaging	Het
Csmd1	G	T	8: 16,157,204 (GRCm38)		probably benign	Het
Def6	T	A	17: 28,225,982 (GRCm38)	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,747,277 (GRCm38)	C2480*	probably null	Het
Dnah9	T	C	11: 65,927,822 (GRCm38)	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,916,374 (GRCm38)	S15*	probably null	Het
Erc1	T	C	6: 119,694,602 (GRCm38)	R917G	probably damaging	Het
Fgd2	T	A	17: 29,374,108 (GRCm38)		probably benign	Het
Frem3	G	T	8: 80,611,191 (GRCm38)	V38L	probably benign	Het
Gas2l3	T	C	10: 89,413,934 (GRCm38)	I441V	probably benign	Het
Gm14393	T	A	2: 175,063,981 (GRCm38)	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,915,268 (GRCm38)	K256E	possibly damaging	Het
Gtf2ird1	T	A	5: 134,395,802 (GRCm38)		probably null	Het
Hmces	C	A	6: 87,936,139 (GRCm38)	T292K	probably benign	Het
Hpse2	G	A	19: 43,388,253 (GRCm38)	S20L	probably benign	Het
Ikbke	A	T	1: 131,276,487 (GRCm38)	V23E	probably null	Het
Ino80	A	T	2: 119,379,649 (GRCm38)	V1387E	probably damaging	Het
Islr	G	T	9: 58,157,306 (GRCm38)	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,100,838 (GRCm38)	G276D	probably damaging	Het
Jchain	A	G	5: 88,526,120 (GRCm38)	V55A	probably benign	Het
Kalrn	T	C	16: 34,187,471 (GRCm38)	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,801,997 (GRCm38)	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,447,271 (GRCm38)	L23P	probably damaging	Het
Lrba	C	T	3: 86,737,142 (GRCm38)	H381Y	probably damaging	Het
Lrch3	T	C	16: 32,988,495 (GRCm38)		probably benign	Het
Lrrc32	T	C	7: 98,499,357 (GRCm38)	V448A	probably benign	Het
Mapkbp1	T	C	2: 120,017,820 (GRCm38)	M617T	probably damaging	Het
Megf6	C	T	4: 154,252,419 (GRCm38)		probably benign	Het
Mfap1a	T	C	2: 121,502,801 (GRCm38)	M50V	probably benign	Het
Mgam	G	T	6: 40,759,128 (GRCm38)	A854S	probably damaging	Het
Myh3	A	C	11: 67,098,059 (GRCm38)		probably benign	Het
Myo18b	C	A	5: 112,693,033 (GRCm38)	R2298L	probably damaging	Het
Myo1h	T	A	5: 114,319,704 (GRCm38)	M92K	probably damaging	Het
Nfkbib	T	C	7: 28,762,022 (GRCm38)		probably null	Het
Nlrp2	T	A	7: 5,300,951 (GRCm38)	T192S	probably benign	Het
Nr2f1	A	T	13: 78,198,165 (GRCm38)	Y137N	possibly damaging	Het
Nup98	T	A	7: 102,147,306 (GRCm38)	D841V	probably damaging	Het
Nvl	A	G	1: 181,139,262 (GRCm38)	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,346,788 (GRCm38)	N948K	probably damaging	Het
Olfr530	A	G	7: 140,373,113 (GRCm38)	S166P	probably benign	Het
Olfr538	A	G	7: 140,574,749 (GRCm38)	T199A	probably benign	Het
Olfr578	A	C	7: 102,984,323 (GRCm38)	Y280*	probably null	Het
Olfr743	T	C	14: 50,533,702 (GRCm38)	S97P	possibly damaging	Het
Orc2	A	C	1: 58,481,158 (GRCm38)		probably benign	Het
Osgin1	G	A	8: 119,444,965 (GRCm38)	R166H	probably damaging	Het
Palb2	A	T	7: 122,107,523 (GRCm38)	F741I	probably benign	Het
Palb2	G	T	7: 122,107,524 (GRCm38)	Y740*	probably null	Het
Parvb	G	A	15: 84,271,308 (GRCm38)	D65N	probably benign	Het
Parvb	G	A	15: 84,271,252 (GRCm38)	G46D	probably damaging	Het
Pcsk2	A	T	2: 143,546,518 (GRCm38)	K10*	probably null	Het
Pde3a	C	T	6: 141,466,206 (GRCm38)	A502V	probably benign	Het
Pfas	T	C	11: 68,991,359 (GRCm38)	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,840,720 (GRCm38)	D663E	probably damaging	Het
Prickle2	G	A	6: 92,458,602 (GRCm38)	P6L	probably damaging	Het
Prx	T	A	7: 27,517,601 (GRCm38)	M648K	probably benign	Het
Ptpn21	T	C	12: 98,688,476 (GRCm38)	N744S	probably benign	Het
Ptprq	C	T	10: 107,718,574 (GRCm38)	V97M	probably damaging	Het
Pvr	T	C	7: 19,918,624 (GRCm38)	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,639,775 (GRCm38)	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091 (GRCm38)		probably null	Het
Rorc	T	A	3: 94,397,302 (GRCm38)	Y331*	probably null	Het
Rpl37	T	C	15: 5,118,614 (GRCm38)	V91A	probably benign	Het
Rrp36	T	A	17: 46,672,380 (GRCm38)	K103*	probably null	Het
Ryr3	T	A	2: 112,653,007 (GRCm38)	M4142L	probably benign	Het
Sash1	A	T	10: 8,789,593 (GRCm38)	L125H	probably damaging	Het
Scn5a	T	C	9: 119,536,475 (GRCm38)	M369V	possibly damaging	Het
Siglec1	A	T	2: 131,070,387 (GRCm38)	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,072,994 (GRCm38)	V141E	probably benign	Het
Slc43a1	T	C	2: 84,859,676 (GRCm38)		probably benign	Het
Slc8a3	A	T	12: 81,199,710 (GRCm38)	H856Q	probably benign	Het
Sptlc2	T	A	12: 87,355,640 (GRCm38)	M171L	probably benign	Het
Srcap	T	A	7: 127,559,727 (GRCm38)		probably benign	Het
St6gal2	A	G	17: 55,490,943 (GRCm38)	D310G	probably damaging	Het
Susd2	T	A	10: 75,638,054 (GRCm38)	D689V	probably damaging	Het
Suz12	A	T	11: 80,019,732 (GRCm38)	E303V	possibly damaging	Het
Taldo1	C	A	7: 141,398,587 (GRCm38)	T150K	probably damaging	Het
Tex14	T	C	11: 87,549,529 (GRCm38)		probably benign	Het
Tg	T	A	15: 66,849,463 (GRCm38)	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,545,737 (GRCm38)	D259G	probably damaging	Het
Tmem179	G	T	12: 112,501,854 (GRCm38)	H64Q	probably benign	Het
Tmem236	A	G	2: 14,218,921 (GRCm38)	T174A	probably benign	Het
Tmtc1	T	A	6: 148,305,985 (GRCm38)		probably benign	Het
Tnc	A	T	4: 63,966,574 (GRCm38)	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,825,048 (GRCm38)	N261S	probably damaging	Het
Traf6	G	T	2: 101,696,649 (GRCm38)		probably benign	Het
Trank1	C	A	9: 111,343,232 (GRCm38)	F96L	possibly damaging	Het
Trim56	T	A	5: 137,113,163 (GRCm38)	I500F	probably damaging	Het
Ttc30b	G	T	2: 75,937,811 (GRCm38)	S199R	probably benign	Het
Ttll5	A	G	12: 85,879,394 (GRCm38)	I321V	possibly damaging	Het
Ttn	C	A	2: 76,778,023 (GRCm38)	W17852L	probably damaging	Het
Twnk	G	A	19: 45,009,381 (GRCm38)	V450M	probably damaging	Het
Uba52	A	G	8: 70,509,556 (GRCm38)	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,421,226 (GRCm38)		probably null	Het
Uggt1	A	T	1: 36,176,796 (GRCm38)	M130K	probably benign	Het
Ulk4	T	A	9: 121,081,656 (GRCm38)	T1101S	probably benign	Het
Urb1	A	G	16: 90,752,014 (GRCm38)	S2269P	probably benign	Het
Ush2a	G	T	1: 188,400,206 (GRCm38)	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471 (GRCm38)	H1624L	probably benign	Homo
Vipr1	T	C	9: 121,665,520 (GRCm38)	L308S	possibly damaging	Het
Vps50	G	A	6: 3,517,777 (GRCm38)		probably benign	Het
Xdh	T	G	17: 73,891,112 (GRCm38)	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,493,968 (GRCm38)	I94V	probably benign	Het
Zfhx4	A	G	3: 5,413,146 (GRCm38)	*3582W	probably null	Het
Zfp58	T	C	13: 67,492,025 (GRCm38)	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,511,993 (GRCm38)	R643L	probably benign	Het
Znfx1	A	G	2: 167,042,587 (GRCm38)	V51A	possibly damaging	Het

Other mutations in Cacna1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Cacna1a	APN	8	84,571,208 (GRCm38)	nonsense	probably null
IGL00513:Cacna1a	APN	8	84,553,056 (GRCm38)	missense	probably damaging	1.00
IGL00569:Cacna1a	APN	8	84,462,714 (GRCm38)	missense	probably damaging	1.00
IGL00981:Cacna1a	APN	8	84,548,553 (GRCm38)	missense	probably damaging	1.00
IGL01122:Cacna1a	APN	8	84,614,793 (GRCm38)	critical splice donor site	probably null
IGL01309:Cacna1a	APN	8	84,523,028 (GRCm38)	missense	probably damaging	1.00
IGL01380:Cacna1a	APN	8	84,559,117 (GRCm38)	missense	probably damaging	1.00
IGL01638:Cacna1a	APN	8	84,571,827 (GRCm38)	missense	probably damaging	0.98
IGL01682:Cacna1a	APN	8	84,536,438 (GRCm38)	missense	possibly damaging	0.71
IGL02751:Cacna1a	APN	8	84,569,952 (GRCm38)	missense	probably damaging	1.00
IGL02904:Cacna1a	APN	8	84,579,520 (GRCm38)	missense	probably damaging	1.00
IGL03122:Cacna1a	APN	8	84,462,676 (GRCm38)	splice site	probably benign
totter	UTSW	8	84,588,753 (GRCm38)	missense	probably damaging	0.99
totter2	UTSW	8	84,588,753 (GRCm38)	missense	probably damaging	0.99
FR4340:Cacna1a	UTSW	8	84,638,723 (GRCm38)	small insertion	probably benign
FR4449:Cacna1a	UTSW	8	84,638,723 (GRCm38)	small insertion	probably benign
FR4449:Cacna1a	UTSW	8	84,638,720 (GRCm38)	small insertion	probably benign
FR4449:Cacna1a	UTSW	8	84,638,714 (GRCm38)	small insertion	probably benign
FR4548:Cacna1a	UTSW	8	84,638,717 (GRCm38)	small insertion	probably benign
FR4737:Cacna1a	UTSW	8	84,638,726 (GRCm38)	small insertion	probably benign
FR4737:Cacna1a	UTSW	8	84,638,720 (GRCm38)	small insertion	probably benign
FR4976:Cacna1a	UTSW	8	84,638,726 (GRCm38)	small insertion	probably benign
FR4976:Cacna1a	UTSW	8	84,638,717 (GRCm38)	small insertion	probably benign
IGL03134:Cacna1a	UTSW	8	84,559,087 (GRCm38)	missense	probably damaging	1.00
R0055:Cacna1a	UTSW	8	84,580,058 (GRCm38)	splice site	probably benign
R0118:Cacna1a	UTSW	8	84,536,083 (GRCm38)	missense	probably damaging	1.00
R0284:Cacna1a	UTSW	8	84,612,285 (GRCm38)	missense	probably damaging	1.00
R0581:Cacna1a	UTSW	8	84,601,936 (GRCm38)	missense	possibly damaging	0.83
R0607:Cacna1a	UTSW	8	84,629,831 (GRCm38)	missense	probably damaging	1.00
R1168:Cacna1a	UTSW	8	84,579,501 (GRCm38)	missense	probably damaging	1.00
R1183:Cacna1a	UTSW	8	84,580,217 (GRCm38)	missense	probably damaging	1.00
R1503:Cacna1a	UTSW	8	84,601,946 (GRCm38)	missense	probably benign	0.23
R1522:Cacna1a	UTSW	8	84,633,433 (GRCm38)	missense	probably benign	0.00
R1835:Cacna1a	UTSW	8	84,581,357 (GRCm38)	splice site	probably null
R1862:Cacna1a	UTSW	8	84,415,930 (GRCm38)	missense	possibly damaging	0.80
R2148:Cacna1a	UTSW	8	84,629,675 (GRCm38)	missense	possibly damaging	0.71
R2237:Cacna1a	UTSW	8	84,633,765 (GRCm38)	critical splice donor site	probably null
R2567:Cacna1a	UTSW	8	84,549,725 (GRCm38)	missense	probably damaging	1.00
R2999:Cacna1a	UTSW	8	84,567,742 (GRCm38)	missense	probably damaging	1.00
R3025:Cacna1a	UTSW	8	84,580,225 (GRCm38)	critical splice donor site	probably null
R3610:Cacna1a	UTSW	8	84,559,065 (GRCm38)	missense	probably damaging	1.00
R3702:Cacna1a	UTSW	8	84,617,846 (GRCm38)	missense	probably damaging	0.98
R3763:Cacna1a	UTSW	8	84,583,642 (GRCm38)	missense	possibly damaging	0.85
R4025:Cacna1a	UTSW	8	84,581,333 (GRCm38)	missense	probably damaging	1.00
R4026:Cacna1a	UTSW	8	84,581,333 (GRCm38)	missense	probably damaging	1.00
R4106:Cacna1a	UTSW	8	84,583,695 (GRCm38)	missense	possibly damaging	0.85
R4296:Cacna1a	UTSW	8	84,559,293 (GRCm38)	missense	probably damaging	1.00
R4664:Cacna1a	UTSW	8	84,601,767 (GRCm38)	nonsense	probably null
R4713:Cacna1a	UTSW	8	84,549,514 (GRCm38)	missense	probably damaging	1.00
R5223:Cacna1a	UTSW	8	84,587,195 (GRCm38)	missense	possibly damaging	0.94
R5408:Cacna1a	UTSW	8	84,549,707 (GRCm38)	missense	probably damaging	1.00
R5644:Cacna1a	UTSW	8	84,462,777 (GRCm38)	missense	probably damaging	1.00
R5734:Cacna1a	UTSW	8	84,583,731 (GRCm38)	missense	probably damaging	0.96
R5786:Cacna1a	UTSW	8	84,415,721 (GRCm38)	unclassified	probably benign
R5833:Cacna1a	UTSW	8	84,518,697 (GRCm38)	missense	probably damaging	1.00
R5886:Cacna1a	UTSW	8	84,523,022 (GRCm38)	missense	probably damaging	0.99
R6049:Cacna1a	UTSW	8	84,638,846 (GRCm38)	missense	probably damaging	0.96
R6054:Cacna1a	UTSW	8	84,556,785 (GRCm38)	missense	probably damaging	0.99
R6117:Cacna1a	UTSW	8	84,614,721 (GRCm38)	missense	probably damaging	1.00
R6149:Cacna1a	UTSW	8	84,569,952 (GRCm38)	missense	probably damaging	1.00
R6195:Cacna1a	UTSW	8	84,588,753 (GRCm38)	missense	probably damaging	0.99
R6233:Cacna1a	UTSW	8	84,588,753 (GRCm38)	missense	probably damaging	0.99
R6607:Cacna1a	UTSW	8	84,579,492 (GRCm38)	missense	probably damaging	1.00
R6753:Cacna1a	UTSW	8	84,580,205 (GRCm38)	missense	probably damaging	1.00
R6798:Cacna1a	UTSW	8	84,611,602 (GRCm38)	missense	probably damaging	1.00
R6831:Cacna1a	UTSW	8	84,571,231 (GRCm38)	missense	probably damaging	1.00
R6980:Cacna1a	UTSW	8	84,612,285 (GRCm38)	missense	possibly damaging	0.85
R7051:Cacna1a	UTSW	8	84,629,915 (GRCm38)	missense	possibly damaging	0.85
R7270:Cacna1a	UTSW	8	84,571,237 (GRCm38)	missense	probably damaging	1.00
R7409:Cacna1a	UTSW	8	84,533,402 (GRCm38)	missense	probably damaging	1.00
R7491:Cacna1a	UTSW	8	84,559,293 (GRCm38)	missense	possibly damaging	0.92
R7511:Cacna1a	UTSW	8	84,567,682 (GRCm38)	missense	possibly damaging	0.75
R7745:Cacna1a	UTSW	8	84,559,394 (GRCm38)	missense	probably benign	0.01
R7872:Cacna1a	UTSW	8	84,583,654 (GRCm38)	missense	probably damaging	1.00
R7899:Cacna1a	UTSW	8	84,594,173 (GRCm38)	missense	possibly damaging	0.72
R7986:Cacna1a	UTSW	8	84,638,779 (GRCm38)	missense	probably benign	0.02
R8126:Cacna1a	UTSW	8	84,633,252 (GRCm38)	missense	probably benign	0.02
R8266:Cacna1a	UTSW	8	84,559,219 (GRCm38)	missense	probably damaging	1.00
R8458:Cacna1a	UTSW	8	84,549,458 (GRCm38)	missense	probably damaging	1.00
R8504:Cacna1a	UTSW	8	84,638,741 (GRCm38)	missense	probably benign
R8530:Cacna1a	UTSW	8	84,612,414 (GRCm38)	critical splice donor site	probably null
R8750:Cacna1a	UTSW	8	84,559,155 (GRCm38)	missense	probably damaging	0.99
R8817:Cacna1a	UTSW	8	84,638,797 (GRCm38)	missense	probably benign	0.44
R8856:Cacna1a	UTSW	8	84,559,441 (GRCm38)	missense	probably benign	0.30
R8893:Cacna1a	UTSW	8	84,587,135 (GRCm38)	missense	probably benign	0.00
R9083:Cacna1a	UTSW	8	84,617,882 (GRCm38)	missense	probably benign	0.30
R9087:Cacna1a	UTSW	8	84,638,803 (GRCm38)	missense	probably benign	0.44
R9118:Cacna1a	UTSW	8	84,536,086 (GRCm38)	missense	probably damaging	1.00
R9133:Cacna1a	UTSW	8	84,549,523 (GRCm38)	missense	probably damaging	1.00
R9175:Cacna1a	UTSW	8	84,570,015 (GRCm38)	missense	probably damaging	0.99
R9233:Cacna1a	UTSW	8	84,544,654 (GRCm38)	missense	probably damaging	1.00
R9310:Cacna1a	UTSW	8	84,536,417 (GRCm38)	missense	probably damaging	1.00
R9331:Cacna1a	UTSW	8	84,415,817 (GRCm38)	missense	probably damaging	1.00
R9334:Cacna1a	UTSW	8	84,569,965 (GRCm38)	missense	probably damaging	1.00
R9531:Cacna1a	UTSW	8	84,594,172 (GRCm38)	missense	probably benign	0.02
R9532:Cacna1a	UTSW	8	84,611,617 (GRCm38)	missense	probably damaging	1.00
R9590:Cacna1a	UTSW	8	84,601,981 (GRCm38)	nonsense	probably null
R9710:Cacna1a	UTSW	8	84,594,179 (GRCm38)	missense	possibly damaging	0.74
RF029:Cacna1a	UTSW	8	84,638,724 (GRCm38)	small insertion	probably benign
X0022:Cacna1a	UTSW	8	84,633,699 (GRCm38)	missense	possibly damaging	0.53
Z1176:Cacna1a	UTSW	8	84,415,676 (GRCm38)	missense	unknown
Z1177:Cacna1a	UTSW	8	84,579,491 (GRCm38)	missense	probably damaging	1.00
Z1188:Cacna1a	UTSW	8	84,515,054 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-05-23