Mutagenetix > Incidental Mutation

Incidental Mutation 'R4839:Cacna1e'

371596

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

Accession Numbers

Essential gene?

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

Stock #

R4839 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154266477-154760247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 154296804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1687 (R1687L)

Ref Sequence

ENSEMBL: ENSMUSP00000148507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004214] [ENSMUST00000187541] [ENSMUST00000211821] [ENSMUST00000226546]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000004214
AA Change: R1441L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000004214
Gene: ENSMUSG00000004110
AA Change: R1441L

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

probably damaging
Transcript: ENSMUST00000187541
AA Change: R1749L

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

SMART Domains

Protein: ENSMUSP00000140937
Gene: ENSMUSG00000004110
AA Change: R1749L

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

probably damaging
Transcript: ENSMUST00000211821
AA Change: R1687L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226546
AA Change: R33L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,845 (GRCm39)	S467T	probably benign	Het
2310030G06Rik	A	T	9: 50,652,023 (GRCm39)	Y68*	probably null	Het
Abat	T	G	16: 8,401,512 (GRCm39)		probably benign	Het
Abca2	C	T	2: 25,330,921 (GRCm39)	S1203F	probably damaging	Het
Adam22	G	A	5: 8,186,813 (GRCm39)	P436L	probably damaging	Het
Ak3	A	C	19: 29,025,132 (GRCm39)	L33R	probably damaging	Het
Arhgap11a	A	T	2: 113,672,374 (GRCm39)	I198K	probably damaging	Het
Arl14epl	A	T	18: 47,065,544 (GRCm39)	K103M	possibly damaging	Het
Atg16l1	T	A	1: 87,693,896 (GRCm39)	N65K	probably damaging	Het
Btnl2	G	A	17: 34,584,260 (GRCm39)	W394*	probably null	Het
Cacna1g	G	T	11: 94,350,433 (GRCm39)	R471S	probably benign	Het
Cdh13	A	T	8: 119,578,587 (GRCm39)	R205*	probably null	Het
Cdkl3	A	T	11: 51,895,861 (GRCm39)	Y36F	probably damaging	Het
Cep290	T	A	10: 100,344,648 (GRCm39)	N488K	probably damaging	Het
Cep350	A	T	1: 155,804,240 (GRCm39)	C948S	probably benign	Het
Cep70	A	G	9: 99,178,138 (GRCm39)	K446R	probably benign	Het
Cfap70	T	C	14: 20,475,597 (GRCm39)	T375A	probably damaging	Het
Cfhr1	A	G	1: 139,487,871 (GRCm39)	L9S	probably damaging	Het
Chrm4	T	A	2: 91,757,952 (GRCm39)	M120K	probably damaging	Het
Col1a1	A	G	11: 94,840,921 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,362,963 (GRCm39)		probably null	Het
Csrnp3	A	T	2: 65,852,375 (GRCm39)	R256*	probably null	Het
Dbf4	T	A	5: 8,458,263 (GRCm39)	K190*	probably null	Het
Dnah10	A	T	5: 124,850,196 (GRCm39)	I1573F	probably damaging	Het
Dock8	A	G	19: 25,146,858 (GRCm39)	I1446V	probably benign	Het
Dst	G	T	1: 34,229,943 (GRCm39)	R2187M	probably damaging	Het
Ece2	C	T	16: 20,449,918 (GRCm39)	R257C	probably damaging	Het
Espn	A	G	4: 152,222,961 (GRCm39)	Y306H	probably damaging	Het
Fkbpl	G	A	17: 34,864,839 (GRCm39)	M202I	probably benign	Het
Fn1	A	G	1: 71,681,242 (GRCm39)	L362P	probably damaging	Het
Ganc	A	C	2: 120,290,304 (GRCm39)	R880S	probably benign	Het
Gucy1b2	A	T	14: 62,685,695 (GRCm39)	L90Q	probably damaging	Het
Hcn1	T	A	13: 118,062,246 (GRCm39)	I504N	unknown	Het
Hdac2	C	A	10: 36,873,462 (GRCm39)	T352K	probably benign	Het
Hip1	T	C	5: 135,455,172 (GRCm39)		probably null	Het
Hspa13	G	A	16: 75,562,169 (GRCm39)	S10L	probably damaging	Het
Ipo5	T	C	14: 121,157,450 (GRCm39)	I96T	probably benign	Het
Isl1	T	C	13: 116,438,220 (GRCm39)	Y264C	probably damaging	Het
Izumo1	T	C	7: 45,275,657 (GRCm39)	I322T	probably benign	Het
Kars1	A	C	8: 112,729,158 (GRCm39)	V183G	possibly damaging	Het
Lrrc15	C	A	16: 30,093,086 (GRCm39)	M84I	probably benign	Het
Magi1	A	T	6: 93,671,177 (GRCm39)	V796E	probably damaging	Het
Matn4	G	T	2: 164,242,896 (GRCm39)	D67E	probably benign	Het
Mertk	A	G	2: 128,624,496 (GRCm39)	M636V	probably damaging	Het
Mettl27	C	A	5: 134,963,266 (GRCm39)	P126T	probably damaging	Het
Mfrp	T	A	9: 44,013,432 (GRCm39)	H52Q	possibly damaging	Het
Mrgprb8	T	G	7: 48,038,656 (GRCm39)	I109R	probably benign	Het
Mroh2a	G	A	1: 88,165,666 (GRCm39)	G512S	probably damaging	Het
Ncoa7	T	A	10: 30,598,655 (GRCm39)	R89S	possibly damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nin	G	T	12: 70,137,325 (GRCm39)	H84N	possibly damaging	Het
Nwd2	A	T	5: 63,962,893 (GRCm39)	I826F	possibly damaging	Het
Or10d1	A	G	9: 39,484,441 (GRCm39)	M38T	probably benign	Het
Or14c43	T	C	7: 86,115,117 (GRCm39)	F166S	probably damaging	Het
Or1j11	G	A	2: 36,312,012 (GRCm39)	V201I	probably benign	Het
Or4l15	C	T	14: 50,197,646 (GRCm39)	M294I	probably benign	Het
Or52a5b	T	C	7: 103,416,961 (GRCm39)	I214M	possibly damaging	Het
Or5k3	A	G	16: 58,969,393 (GRCm39)	Y60C	probably damaging	Het
Or5p73	T	C	7: 108,064,938 (GRCm39)	S136P	probably benign	Het
Otof	C	T	5: 30,576,748 (GRCm39)	R168H	probably damaging	Het
Pcdha6	T	C	18: 37,101,485 (GRCm39)	V226A	possibly damaging	Het
Pggt1b	T	C	18: 46,391,166 (GRCm39)	I200V	possibly damaging	Het
Ppat	G	A	5: 77,098,811 (GRCm39)	Q41*	probably null	Het
Ppfibp2	A	T	7: 107,342,192 (GRCm39)	H27L	probably damaging	Het
Rbm27	T	A	18: 42,460,510 (GRCm39)	I775N	probably damaging	Het
Rnf40	C	T	7: 127,191,812 (GRCm39)	R349*	probably null	Het
Rtp3	A	T	9: 110,818,544 (GRCm39)	W46R	probably damaging	Het
Sass6	C	T	3: 116,403,949 (GRCm39)	R196W	probably damaging	Het
Sel1l	A	T	12: 91,799,932 (GRCm39)	D131E	probably benign	Het
Slain2	T	C	5: 73,106,066 (GRCm39)	S234P	probably damaging	Het
Slc47a1	C	T	11: 61,264,176 (GRCm39)		probably null	Het
Sp140	CAGAAGAAG	CAGAAG	1: 85,538,529 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,440 (GRCm39)	T247A	probably benign	Het
Spef2	A	T	15: 9,713,264 (GRCm39)	Y369*	probably null	Het
Spred2	T	A	11: 19,948,233 (GRCm39)	M76K	possibly damaging	Het
Svs5	T	A	2: 164,078,806 (GRCm39)	D367V	probably benign	Het
Tasor2	G	A	13: 3,634,807 (GRCm39)	P667S	probably damaging	Het
Tefm	A	T	11: 80,027,947 (GRCm39)	D270E	probably benign	Het
Tfcp2l1	C	A	1: 118,597,194 (GRCm39)	P425H	probably benign	Het
Thbd	A	T	2: 148,248,591 (GRCm39)	C426S	probably damaging	Het
Timm10b	T	A	7: 105,333,219 (GRCm39)	D968E	probably damaging	Het
Tle2	C	T	10: 81,413,518 (GRCm39)	T119I	probably damaging	Het
Tnik	T	A	3: 28,650,224 (GRCm39)	Y446N	possibly damaging	Het
Tpr	T	A	1: 150,324,948 (GRCm39)	L2400*	probably null	Het
Trrap	T	C	5: 144,782,402 (GRCm39)	F3328S	probably damaging	Het
Vldlr	G	A	19: 27,215,465 (GRCm39)	C154Y	probably damaging	Het
Vmn1r79	T	G	7: 11,910,361 (GRCm39)	M81R	probably benign	Het
Vps13d	T	C	4: 144,812,000 (GRCm39)	T3305A	possibly damaging	Het
Wdr62	T	C	7: 29,970,111 (GRCm39)	E232G	probably damaging	Het
Wdr62	T	A	7: 29,940,890 (GRCm39)	I843F	probably benign	Het
Zfp747l1	T	C	7: 126,984,179 (GRCm39)	S308G	probably benign	Het
Zfp873	T	A	10: 81,896,353 (GRCm39)	H361Q	probably damaging	Het
Zfp949	A	C	9: 88,452,047 (GRCm39)	H539P	probably 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
R1440:Cacna1e	UTSW	1	154,437,552 (GRCm39)	missense	possibly damaging	0.63
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
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'- GCAAACAAGGGCACAGTCTG -3'
(R):5'- ACTTTGCCTTGGAGCCTGTC -3'

Sequencing Primer
(F):5'- CACAGTCTGCCACAAAAAGAAAGAGG -3'
(R):5'- GAGCCTGTCCATCTGTTTCCTGAG -3'

Posted On

2016-03-01