Mutagenetix > Incidental Mutation

Incidental Mutation 'R1440:Cacna1e'

160898

Institutional Source

Beutler Lab

Gene Symbol

Cacna1e

Ensembl Gene

ENSMUSG00000004110

Gene Name

calcium channel, voltage-dependent, R type, alpha 1E subunit

Synonyms

Cav2.3, Cchra1, alpha1E

MMRRC Submission

039495-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R1440 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154266477-154760247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154437552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 328 (N328S)

Ref Sequence

ENSEMBL: ENSMUSP00000140937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004214] [ENSMUST00000187541] [ENSMUST00000211821]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004214
AA Change: N20S

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000004214
Gene: ENSMUSG00000004110
AA Change: N20S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	1	55	6.7e-10	PFAM
Pfam:Ion_trans	168	407	3.3e-56	PFAM
Pfam:PKD_channel	257	401	3.3e-7	PFAM
low complexity region	409	414	N/A	INTRINSIC
low complexity region	455	469	N/A	INTRINSIC
low complexity region	496	514	N/A	INTRINSIC
low complexity region	604	620	N/A	INTRINSIC
low complexity region	626	640	N/A	INTRINSIC
coiled coil region	793	823	N/A	INTRINSIC
Pfam:Ion_trans	847	1128	2.3e-63	PFAM
Pfam:Ion_trans	1172	1429	2.6e-65	PFAM
Pfam:PKD_channel	1256	1424	2.8e-10	PFAM
Pfam:GPHH	1431	1500	1.3e-37	PFAM
Ca_chan_IQ	1555	1589	5.93e-13	SMART
low complexity region	1701	1717	N/A	INTRINSIC
low complexity region	1729	1742	N/A	INTRINSIC
low complexity region	1764	1780	N/A	INTRINSIC
low complexity region	1789	1804	N/A	INTRINSIC
low complexity region	1808	1822	N/A	INTRINSIC
low complexity region	1832	1846	N/A	INTRINSIC
low complexity region	1867	1878	N/A	INTRINSIC
low complexity region	1936	1946	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187541
AA Change: N328S

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140937
Gene: ENSMUSG00000004110
AA Change: N328S

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	128	351	8.5e-54	PFAM
PDB:4DEX\|B	354	462	6e-36	PDB
Pfam:Ion_trans	511	703	2.2e-46	PFAM
Pfam:PKD_channel	565	710	1.4e-6	PFAM
low complexity region	717	722	N/A	INTRINSIC
low complexity region	763	777	N/A	INTRINSIC
low complexity region	804	822	N/A	INTRINSIC
low complexity region	912	928	N/A	INTRINSIC
low complexity region	934	948	N/A	INTRINSIC
coiled coil region	1101	1131	N/A	INTRINSIC
low complexity region	1162	1175	N/A	INTRINSIC
Pfam:Ion_trans	1191	1425	4.3e-55	PFAM
Pfam:Ion_trans	1515	1725	5.3e-60	PFAM
Pfam:PKD_channel	1565	1732	4.7e-10	PFAM
Ca_chan_IQ	1863	1897	5.93e-13	SMART
low complexity region	2009	2025	N/A	INTRINSIC
low complexity region	2037	2050	N/A	INTRINSIC
low complexity region	2072	2088	N/A	INTRINSIC
low complexity region	2097	2112	N/A	INTRINSIC
low complexity region	2116	2130	N/A	INTRINSIC
low complexity region	2140	2154	N/A	INTRINSIC
low complexity region	2175	2186	N/A	INTRINSIC
low complexity region	2244	2254	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188965

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211821
AA Change: N266S

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.5528

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.7%

Validation Efficiency

95% (94/99)

MGI Phenotype

FUNCTION: This gene encodes an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes. Voltage-dependent calcium channels are multi-subunit complexes, comprised of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The isoform alpha-1E gives rise to R-type calcium currents and belongs to the high-voltage activated group. Calcium channels containing the alpha-1E subunit may be involved in the modulation of neuronal firing patterns, an important component of information processing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(3) Targeted, other(3) Gene trapped(1)

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	G	12: 72,928,195 (GRCm39)	N512T	possibly damaging	Het
Aadacl2	A	T	3: 59,932,313 (GRCm39)	H276L	probably damaging	Het
Adam12	G	A	7: 133,533,543 (GRCm39)	T445M	probably benign	Het
Ash2l	A	T	8: 26,317,406 (GRCm39)	F290L	probably benign	Het
Asxl3	C	T	18: 22,658,281 (GRCm39)	P2097L	probably benign	Het
Atmin	A	G	8: 117,684,115 (GRCm39)	I592V	probably damaging	Het
Atxn2	T	C	5: 121,941,145 (GRCm39)		probably null	Het
BC004004	T	C	17: 29,515,665 (GRCm39)		probably null	Het
Cacna2d1	A	T	5: 16,560,493 (GRCm39)	K765I	probably damaging	Het
Cc2d1a	A	G	8: 84,860,604 (GRCm39)		probably null	Het
Ccdc28b	A	G	4: 129,514,408 (GRCm39)	V198A	probably benign	Het
Ces1b	G	T	8: 93,794,736 (GRCm39)	R288S	probably damaging	Het
Cfap100	T	G	6: 90,389,166 (GRCm39)	T198P	probably benign	Het
Clint1	T	C	11: 45,781,610 (GRCm39)	S227P	probably damaging	Het
Cntn5	C	A	9: 10,145,344 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,382,472 (GRCm39)		probably null	Het
Cyp4a10	A	C	4: 115,386,646 (GRCm39)	D431A	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,060,617 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,777,060 (GRCm39)	S102P	probably benign	Het
Dnah7b	G	A	1: 46,117,753 (GRCm39)		probably benign	Het
Dock10	A	C	1: 80,526,853 (GRCm39)	S1124A	probably benign	Het
Dscam	C	T	16: 96,621,151 (GRCm39)	R519H	probably damaging	Het
Efcab3	A	T	11: 104,999,581 (GRCm39)		probably benign	Het
Evi2a	G	T	11: 79,418,096 (GRCm39)	N171K	probably damaging	Het
Fbxl15	T	C	19: 46,318,684 (GRCm39)	L286P	probably damaging	Het
Fpr1	T	A	17: 18,097,525 (GRCm39)	I155F	probably benign	Het
Gcat	C	T	15: 78,918,194 (GRCm39)	A84V	probably null	Het
Gls	A	G	1: 52,230,293 (GRCm39)	F473L	possibly damaging	Het
Gnat1	T	C	9: 107,554,164 (GRCm39)	D169G	probably damaging	Het
Grm3	A	C	5: 9,639,958 (GRCm39)	M29R	probably benign	Het
Herc1	A	T	9: 66,375,085 (GRCm39)	D3303V	probably damaging	Het
Ibsp	G	A	5: 104,458,405 (GRCm39)	G314D	unknown	Het
Irag2	C	T	6: 145,120,237 (GRCm39)	T484M	possibly damaging	Het
Lgr6	C	A	1: 134,915,210 (GRCm39)	A513S	probably damaging	Het
Lrriq4	T	A	3: 30,704,910 (GRCm39)	C313S	probably damaging	Het
Marchf10	G	T	11: 105,281,409 (GRCm39)	T292K	probably damaging	Het
Mcoln2	C	A	3: 145,896,137 (GRCm39)	Y6*	probably null	Het
Mup4	A	G	4: 59,958,076 (GRCm39)	I164T	probably damaging	Het
Myo1b	T	C	1: 51,817,717 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,456,100 (GRCm39)	I506T	probably damaging	Het
Notch1	A	T	2: 26,370,976 (GRCm39)		probably benign	Het
Nr4a3	A	T	4: 48,051,777 (GRCm39)	Q177L	probably benign	Het
Nsun4	A	G	4: 115,910,147 (GRCm39)	S138P	possibly damaging	Het
Or1a1	A	G	11: 74,086,505 (GRCm39)	M59V	probably damaging	Het
Or2b6	G	T	13: 21,823,560 (GRCm39)	N44K	probably benign	Het
Or2d36	A	T	7: 106,747,405 (GRCm39)	N294I	probably damaging	Het
Or4k5	T	C	14: 50,385,815 (GRCm39)	N172S	probably damaging	Het
Pagr1a	A	T	7: 126,615,469 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,429,343 (GRCm39)	I82L	probably benign	Het
Pds5b	A	T	5: 150,677,882 (GRCm39)	N500I	probably damaging	Het
Pik3r6	A	T	11: 68,422,271 (GRCm39)	E223D	possibly damaging	Het
Pkhd1l1	A	T	15: 44,404,384 (GRCm39)		probably benign	Het
Prex1	T	C	2: 166,422,383 (GRCm39)	D1204G	probably damaging	Het
Prickle1	C	T	15: 93,402,955 (GRCm39)	E244K	possibly damaging	Het
Ptprd	A	T	4: 76,002,789 (GRCm39)	V211E	probably damaging	Het
Rad51d	G	A	11: 82,781,179 (GRCm39)	R23*	probably null	Het
Rapgef6	G	A	11: 54,517,534 (GRCm39)	G262R	probably damaging	Het
Reln	A	G	5: 22,333,600 (GRCm39)		probably benign	Het
Rev1	T	C	1: 38,127,286 (GRCm39)	T325A	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rp1	C	A	1: 4,417,619 (GRCm39)	L1164F	probably damaging	Het
S100a7a	T	C	3: 90,562,942 (GRCm39)	V43A	probably benign	Het
Scaper	A	C	9: 55,510,202 (GRCm39)	Y1104*	probably null	Het
Scn2a	T	A	2: 65,594,938 (GRCm39)	V1929D	probably benign	Het
Scn3a	T	C	2: 65,359,785 (GRCm39)	N141S	possibly damaging	Het
Slc12a7	T	G	13: 73,949,127 (GRCm39)	L718R	probably damaging	Het
Slc15a2	T	C	16: 36,605,005 (GRCm39)		probably benign	Het
Slc35b3	G	A	13: 39,138,110 (GRCm39)	Q100*	probably null	Het
Slc9a5	T	A	8: 106,081,785 (GRCm39)	V170E	possibly damaging	Het
Snx5	T	G	2: 144,096,731 (GRCm39)	K278T	possibly damaging	Het
Sorbs2	T	C	8: 46,243,000 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,873,647 (GRCm39)	W1008*	probably null	Het
Stab2	C	T	10: 86,697,231 (GRCm39)		probably null	Het
Tacc3	A	G	5: 33,825,321 (GRCm39)	E377G	probably benign	Het
Tango6	T	C	8: 107,415,671 (GRCm39)	L164P	probably damaging	Het
Tbc1d12	T	A	19: 38,902,796 (GRCm39)	S570T	possibly damaging	Het
Thbs1	T	C	2: 117,944,836 (GRCm39)	F217L	probably damaging	Het
Tmbim6	T	A	15: 99,300,004 (GRCm39)	V40E	probably damaging	Het
Tmigd1	A	T	11: 76,800,986 (GRCm39)	N158Y	probably damaging	Het
Top3b	C	T	16: 16,710,641 (GRCm39)	R824*	probably null	Het
Tram1l1	A	T	3: 124,115,580 (GRCm39)	K247*	probably null	Het
Tsc2	T	C	17: 24,833,366 (GRCm39)	Y686C	probably damaging	Het
Tsga10	T	C	1: 37,858,680 (GRCm39)	Q218R	probably damaging	Het
Uba6	G	T	5: 86,288,282 (GRCm39)	A439D	probably damaging	Het
Ubn1	C	A	16: 4,895,158 (GRCm39)	P735T	probably damaging	Het
Usp40	A	G	1: 87,909,808 (GRCm39)	S549P	probably benign	Het
Utp20	T	C	10: 88,655,201 (GRCm39)	T176A	probably benign	Het
Utp4	T	G	8: 107,624,685 (GRCm39)		probably benign	Het
Xpo5	C	T	17: 46,518,853 (GRCm39)		probably benign	Het
Zfp979	A	T	4: 147,698,493 (GRCm39)	I72K	possibly damaging	Het

Other mutations in Cacna1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Cacna1e	APN	1	154,279,429 (GRCm39)	missense	probably damaging	0.99
IGL01086:Cacna1e	APN	1	154,347,347 (GRCm39)	missense	probably benign	0.04
IGL01302:Cacna1e	APN	1	154,319,653 (GRCm39)	missense	probably damaging	1.00
IGL01386:Cacna1e	APN	1	154,348,123 (GRCm39)	missense	probably benign	0.18
IGL01573:Cacna1e	APN	1	154,347,113 (GRCm39)	missense	probably benign
IGL01676:Cacna1e	APN	1	154,288,196 (GRCm39)	missense	probably damaging	1.00
IGL01676:Cacna1e	APN	1	154,274,222 (GRCm39)	missense	probably damaging	1.00
IGL01762:Cacna1e	APN	1	154,347,119 (GRCm39)	missense	possibly damaging	0.78
IGL01801:Cacna1e	APN	1	154,347,086 (GRCm39)	missense	probably null	0.00
IGL01895:Cacna1e	APN	1	154,319,646 (GRCm39)	missense	probably damaging	1.00
IGL02391:Cacna1e	APN	1	154,296,859 (GRCm39)	missense	probably damaging	1.00
IGL02399:Cacna1e	APN	1	154,279,493 (GRCm39)	missense	probably damaging	1.00
IGL02659:Cacna1e	APN	1	154,302,274 (GRCm39)	missense	probably damaging	1.00
IGL02686:Cacna1e	APN	1	154,369,155 (GRCm39)	missense	probably damaging	1.00
IGL02838:Cacna1e	APN	1	154,321,394 (GRCm39)	missense	probably damaging	1.00
IGL02958:Cacna1e	APN	1	154,341,487 (GRCm39)	missense	probably damaging	1.00
IGL02981:Cacna1e	APN	1	154,347,171 (GRCm39)	missense	probably benign	0.15
IGL03120:Cacna1e	APN	1	154,319,627 (GRCm39)	missense	probably damaging	1.00
IGL03232:Cacna1e	APN	1	154,369,104 (GRCm39)	missense	probably damaging	1.00
IGL03310:Cacna1e	APN	1	154,317,997 (GRCm39)	missense	probably damaging	1.00
IGL03342:Cacna1e	APN	1	154,342,690 (GRCm39)	critical splice donor site	probably null
bezoar	UTSW	1	154,312,300 (GRCm39)	splice site	probably null
hairball	UTSW	1	154,355,051 (GRCm39)	missense	probably damaging	0.97
N/A - 535:Cacna1e	UTSW	1	154,341,510 (GRCm39)	missense	probably damaging	1.00
R0122:Cacna1e	UTSW	1	154,319,647 (GRCm39)	missense	probably damaging	1.00
R0143:Cacna1e	UTSW	1	154,324,693 (GRCm39)	splice site	probably null
R0314:Cacna1e	UTSW	1	154,317,997 (GRCm39)	missense	probably damaging	1.00
R0366:Cacna1e	UTSW	1	154,291,884 (GRCm39)	missense	probably benign	0.03
R0626:Cacna1e	UTSW	1	154,364,563 (GRCm39)	missense	probably damaging	0.99
R0739:Cacna1e	UTSW	1	154,318,024 (GRCm39)	missense	probably damaging	0.97
R1272:Cacna1e	UTSW	1	154,320,714 (GRCm39)	missense	probably damaging	1.00
R1300:Cacna1e	UTSW	1	154,274,419 (GRCm39)	missense	probably benign
R1340:Cacna1e	UTSW	1	154,348,403 (GRCm39)	missense	probably damaging	1.00
R1449:Cacna1e	UTSW	1	154,361,408 (GRCm39)	critical splice donor site	probably null
R1538:Cacna1e	UTSW	1	154,437,504 (GRCm39)	missense	probably damaging	0.99
R1542:Cacna1e	UTSW	1	154,353,525 (GRCm39)	missense	probably benign	0.01
R1560:Cacna1e	UTSW	1	154,296,850 (GRCm39)	nonsense	probably null
R1748:Cacna1e	UTSW	1	154,362,315 (GRCm39)	missense	possibly damaging	0.92
R1749:Cacna1e	UTSW	1	154,319,746 (GRCm39)	missense	probably damaging	1.00
R1912:Cacna1e	UTSW	1	154,312,195 (GRCm39)	missense	probably damaging	1.00
R1968:Cacna1e	UTSW	1	154,576,240 (GRCm39)	missense	probably damaging	1.00
R1993:Cacna1e	UTSW	1	154,353,563 (GRCm39)	missense	probably damaging	0.97
R1994:Cacna1e	UTSW	1	154,353,563 (GRCm39)	missense	probably damaging	0.97
R2191:Cacna1e	UTSW	1	154,319,591 (GRCm39)	missense	probably damaging	1.00
R2291:Cacna1e	UTSW	1	154,279,429 (GRCm39)	missense	probably damaging	0.99
R2417:Cacna1e	UTSW	1	154,347,939 (GRCm39)	missense	probably damaging	1.00
R3608:Cacna1e	UTSW	1	154,291,831 (GRCm39)	missense	probably benign	0.08
R3757:Cacna1e	UTSW	1	154,509,442 (GRCm39)	missense	probably damaging	0.97
R3890:Cacna1e	UTSW	1	154,359,299 (GRCm39)	missense	probably damaging	1.00
R4015:Cacna1e	UTSW	1	154,358,331 (GRCm39)	missense	probably damaging	1.00
R4088:Cacna1e	UTSW	1	154,287,929 (GRCm39)	splice site	probably null
R4275:Cacna1e	UTSW	1	154,369,071 (GRCm39)	missense	probably damaging	1.00
R4282:Cacna1e	UTSW	1	154,302,296 (GRCm39)	missense	probably benign	0.04
R4297:Cacna1e	UTSW	1	154,274,477 (GRCm39)	missense	probably benign	0.37
R4356:Cacna1e	UTSW	1	154,319,727 (GRCm39)	missense	probably damaging	1.00
R4510:Cacna1e	UTSW	1	154,437,579 (GRCm39)	missense	probably damaging	1.00
R4511:Cacna1e	UTSW	1	154,437,579 (GRCm39)	missense	probably damaging	1.00
R4577:Cacna1e	UTSW	1	154,277,773 (GRCm39)	missense	possibly damaging	0.92
R4590:Cacna1e	UTSW	1	154,312,265 (GRCm39)	missense	possibly damaging	0.87
R4601:Cacna1e	UTSW	1	154,347,359 (GRCm39)	missense	probably benign
R4622:Cacna1e	UTSW	1	154,347,311 (GRCm39)	missense	possibly damaging	0.81
R4626:Cacna1e	UTSW	1	154,358,294 (GRCm39)	splice site	probably null
R4694:Cacna1e	UTSW	1	154,313,012 (GRCm39)	critical splice donor site	probably null
R4727:Cacna1e	UTSW	1	154,312,214 (GRCm39)	nonsense	probably null
R4839:Cacna1e	UTSW	1	154,296,804 (GRCm39)	missense	probably damaging	1.00
R4851:Cacna1e	UTSW	1	154,312,300 (GRCm39)	splice site	probably null
R4894:Cacna1e	UTSW	1	154,364,551 (GRCm39)	nonsense	probably null
R4934:Cacna1e	UTSW	1	154,357,380 (GRCm39)	nonsense	probably null
R4979:Cacna1e	UTSW	1	154,289,739 (GRCm39)	missense	probably damaging	1.00
R5077:Cacna1e	UTSW	1	154,437,475 (GRCm39)	critical splice donor site	probably null
R5128:Cacna1e	UTSW	1	154,277,767 (GRCm39)	missense	probably damaging	0.98
R5214:Cacna1e	UTSW	1	154,577,110 (GRCm39)	missense	possibly damaging	0.93
R5274:Cacna1e	UTSW	1	154,576,250 (GRCm39)	missense	probably damaging	0.98
R5388:Cacna1e	UTSW	1	154,353,542 (GRCm39)	missense	probably damaging	1.00
R5416:Cacna1e	UTSW	1	154,341,525 (GRCm39)	missense	probably damaging	1.00
R5469:Cacna1e	UTSW	1	154,319,683 (GRCm39)	missense	probably damaging	1.00
R5475:Cacna1e	UTSW	1	154,601,455 (GRCm39)	missense	possibly damaging	0.53
R5607:Cacna1e	UTSW	1	154,347,086 (GRCm39)	missense	probably benign	0.00
R5615:Cacna1e	UTSW	1	154,287,916 (GRCm39)	missense	probably damaging	1.00
R5616:Cacna1e	UTSW	1	154,317,940 (GRCm39)	missense	probably damaging	1.00
R5627:Cacna1e	UTSW	1	154,511,604 (GRCm39)	missense	probably damaging	0.98
R5707:Cacna1e	UTSW	1	154,509,463 (GRCm39)	missense	probably damaging	1.00
R5756:Cacna1e	UTSW	1	154,347,383 (GRCm39)	missense	probably benign	0.00
R5893:Cacna1e	UTSW	1	154,313,069 (GRCm39)	missense	probably damaging	1.00
R6117:Cacna1e	UTSW	1	154,437,537 (GRCm39)	missense	possibly damaging	0.68
R6134:Cacna1e	UTSW	1	154,577,037 (GRCm39)	missense	probably damaging	1.00
R6190:Cacna1e	UTSW	1	154,362,316 (GRCm39)	missense	possibly damaging	0.47
R6279:Cacna1e	UTSW	1	154,301,678 (GRCm39)	missense	probably benign	0.38
R6295:Cacna1e	UTSW	1	154,317,919 (GRCm39)	missense	probably damaging	0.98
R6300:Cacna1e	UTSW	1	154,301,678 (GRCm39)	missense	probably benign	0.38
R6320:Cacna1e	UTSW	1	154,317,270 (GRCm39)	missense	possibly damaging	0.76
R6375:Cacna1e	UTSW	1	154,355,051 (GRCm39)	missense	probably damaging	0.97
R6830:Cacna1e	UTSW	1	154,289,720 (GRCm39)	critical splice donor site	probably null
R6842:Cacna1e	UTSW	1	154,358,863 (GRCm39)	missense	probably damaging	1.00
R7023:Cacna1e	UTSW	1	154,601,439 (GRCm39)	missense	probably null	0.85
R7081:Cacna1e	UTSW	1	154,576,129 (GRCm39)	missense	possibly damaging	0.82
R7085:Cacna1e	UTSW	1	154,349,492 (GRCm39)	splice site	probably null
R7108:Cacna1e	UTSW	1	154,344,741 (GRCm39)	frame shift	probably null
R7142:Cacna1e	UTSW	1	154,288,230 (GRCm39)	missense	probably damaging	1.00
R7250:Cacna1e	UTSW	1	154,576,235 (GRCm39)	missense	possibly damaging	0.93
R7332:Cacna1e	UTSW	1	154,601,547 (GRCm39)	missense	possibly damaging	0.89
R7410:Cacna1e	UTSW	1	154,347,980 (GRCm39)	missense	probably benign	0.13
R7502:Cacna1e	UTSW	1	154,344,734 (GRCm39)	missense	probably null	0.35
R7556:Cacna1e	UTSW	1	154,348,419 (GRCm39)	missense	probably benign	0.28
R7563:Cacna1e	UTSW	1	154,347,162 (GRCm39)	missense	probably benign	0.00
R7573:Cacna1e	UTSW	1	154,601,911 (GRCm39)	intron	probably benign
R7689:Cacna1e	UTSW	1	154,274,549 (GRCm39)	missense	probably benign	0.01
R7699:Cacna1e	UTSW	1	154,319,674 (GRCm39)	missense	probably damaging	1.00
R7744:Cacna1e	UTSW	1	154,341,538 (GRCm39)	missense	probably damaging	1.00
R7754:Cacna1e	UTSW	1	154,288,863 (GRCm39)	missense	probably damaging	0.97
R7787:Cacna1e	UTSW	1	154,358,314 (GRCm39)	missense	probably damaging	0.98
R7818:Cacna1e	UTSW	1	154,274,152 (GRCm39)	missense	probably damaging	1.00
R7838:Cacna1e	UTSW	1	154,347,149 (GRCm39)	missense	probably benign	0.08
R7849:Cacna1e	UTSW	1	154,509,464 (GRCm39)	missense	probably damaging	1.00
R8011:Cacna1e	UTSW	1	154,341,568 (GRCm39)	missense	probably benign	0.01
R8094:Cacna1e	UTSW	1	154,437,516 (GRCm39)	missense	probably damaging	1.00
R8162:Cacna1e	UTSW	1	154,577,313 (GRCm39)	splice site	probably null
R8202:Cacna1e	UTSW	1	154,274,195 (GRCm39)	missense	probably benign
R8280:Cacna1e	UTSW	1	154,344,839 (GRCm39)	missense	probably damaging	0.97
R8354:Cacna1e	UTSW	1	154,274,314 (GRCm39)	missense	probably damaging	1.00
R8385:Cacna1e	UTSW	1	154,319,687 (GRCm39)	missense	probably damaging	0.98
R8532:Cacna1e	UTSW	1	154,341,510 (GRCm39)	missense	probably damaging	1.00
R8902:Cacna1e	UTSW	1	154,349,632 (GRCm39)	missense	probably benign	0.01
R8926:Cacna1e	UTSW	1	154,577,080 (GRCm39)	missense	possibly damaging	0.84
R8947:Cacna1e	UTSW	1	154,277,896 (GRCm39)	missense	probably benign	0.10
R9094:Cacna1e	UTSW	1	154,355,064 (GRCm39)	missense	possibly damaging	0.93
R9126:Cacna1e	UTSW	1	154,343,510 (GRCm39)	missense	probably benign	0.01
R9175:Cacna1e	UTSW	1	154,274,314 (GRCm39)	missense	probably damaging	1.00
R9286:Cacna1e	UTSW	1	154,288,845 (GRCm39)	missense	probably damaging	1.00
R9377:Cacna1e	UTSW	1	154,361,458 (GRCm39)	missense	possibly damaging	0.88
R9452:Cacna1e	UTSW	1	154,289,720 (GRCm39)	critical splice donor site	probably null
R9463:Cacna1e	UTSW	1	154,357,411 (GRCm39)	missense	probably damaging	1.00
R9513:Cacna1e	UTSW	1	154,318,033 (GRCm39)	missense	probably damaging	1.00
R9534:Cacna1e	UTSW	1	154,320,693 (GRCm39)	missense	possibly damaging	0.65
R9562:Cacna1e	UTSW	1	154,283,486 (GRCm39)	missense	probably benign	0.01
RF008:Cacna1e	UTSW	1	154,317,882 (GRCm39)	missense	probably damaging	1.00
X0062:Cacna1e	UTSW	1	154,288,238 (GRCm39)	missense	probably damaging	1.00
Z1176:Cacna1e	UTSW	1	154,511,596 (GRCm39)	missense	probably damaging	0.98
Z1177:Cacna1e	UTSW	1	154,318,038 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACATAGCTGGGATAACACTGGCAC -3'
(R):5'- TGATGTGGCCTTCACTAGGCACAG -3'

Sequencing Primer
(F):5'- TAACACTGGCACAAGGGTCTG -3'
(R):5'- CTTCACTAGGCACAGGGTAAAATG -3'

Posted On

2014-03-14