Mutagenetix > Incidental Mutation

Incidental Mutation 'R4909:Cacna1s'

379254

Institutional Source

Beutler Lab

Gene Symbol

Cacna1s

Ensembl Gene

ENSMUSG00000026407

Gene Name

calcium channel, voltage-dependent, L type, alpha 1S subunit

Synonyms

mdg, muscle dysgenesis, sj, Cav1.1, Cchl1a3, DHPR alpha1s, fmd

MMRRC Submission

042511-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4909 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135980549-136047268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136007342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 453 (H453L)

Ref Sequence

ENSEMBL: ENSMUSP00000125278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112064] [ENSMUST00000112068] [ENSMUST00000160641] [ENSMUST00000161865]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112064
AA Change: H453L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: H453L

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	50	345	4.3e-68	PFAM
Pfam:Ion_trans	431	672	4.5e-56	PFAM
Pfam:PKD_channel	516	667	1.9e-7	PFAM
low complexity region	675	685	N/A	INTRINSIC
low complexity region	740	756	N/A	INTRINSIC
Pfam:Ion_trans	798	1076	2.6e-65	PFAM
Pfam:Ion_trans	1117	1392	1.2e-71	PFAM
Pfam:PKD_channel	1126	1387	8.4e-13	PFAM
Pfam:GPHH	1394	1463	2.3e-38	PFAM
Ca_chan_IQ	1515	1548	3.71e-14	SMART
low complexity region	1657	1669	N/A	INTRINSIC
Pfam:CAC1F_C	1756	1845	2.8e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112068
AA Change: H453L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: H453L

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	88	333	9.1e-57	PFAM
PDB:4DEY\|B	334	417	1e-20	PDB
Pfam:Ion_trans	466	660	3.7e-46	PFAM
Pfam:PKD_channel	513	667	6.7e-7	PFAM
low complexity region	675	685	N/A	INTRINSIC
low complexity region	740	756	N/A	INTRINSIC
low complexity region	804	818	N/A	INTRINSIC
Pfam:Ion_trans	834	1064	3.9e-53	PFAM
Pfam:Ion_trans	1152	1361	6.7e-66	PFAM
Pfam:PKD_channel	1201	1368	8.4e-10	PFAM
Blast:EFh	1382	1410	5e-8	BLAST
Ca_chan_IQ	1496	1529	3.71e-14	SMART
low complexity region	1638	1650	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160641
AA Change: H453L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: H453L

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	88	333	9.3e-57	PFAM
PDB:4DEY\|B	334	417	1e-20	PDB
Pfam:Ion_trans	466	660	3.8e-46	PFAM
Pfam:PKD_channel	513	667	6.7e-7	PFAM
low complexity region	675	685	N/A	INTRINSIC
low complexity region	740	756	N/A	INTRINSIC
low complexity region	804	818	N/A	INTRINSIC
Pfam:Ion_trans	834	1064	4e-53	PFAM
Pfam:PKD_channel	1126	1387	6.1e-12	PFAM
Pfam:Ion_trans	1152	1380	9e-65	PFAM
Blast:EFh	1401	1429	5e-8	BLAST
Ca_chan_IQ	1515	1548	3.71e-14	SMART
low complexity region	1657	1669	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161865
AA Change: H206L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: H206L

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	3	98	1.1e-21	PFAM
Pfam:Ion_trans	184	425	3.3e-56	PFAM
Pfam:PKD_channel	267	420	1.8e-7	PFAM
low complexity region	428	438	N/A	INTRINSIC
low complexity region	493	509	N/A	INTRINSIC
Pfam:Ion_trans	551	829	1.9e-65	PFAM
Pfam:Ion_trans	870	1126	5.4e-72	PFAM
Pfam:PKD_channel	954	1121	7.2e-10	PFAM
Pfam:GPHH	1128	1197	1.8e-38	PFAM
Ca_chan_IQ	1249	1282	3.71e-14	SMART
low complexity region	1391	1403	N/A	INTRINSIC

Meta Mutation Damage Score

0.6254

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (101/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(3) Spontaneous(1)

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	A	T	12: 20,865,089 (GRCm39)		noncoding transcript	Het
Aars1	G	A	8: 111,781,715 (GRCm39)	G929D	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Actn4	A	T	7: 28,598,082 (GRCm39)	L506Q	probably damaging	Het
Adam26a	A	T	8: 44,023,475 (GRCm39)	F5Y	probably benign	Het
Adamts5	G	A	16: 85,696,954 (GRCm39)	Q68*	probably null	Het
Adcy9	A	G	16: 4,116,618 (GRCm39)	I871T	probably benign	Het
Ak5	A	T	3: 152,361,514 (GRCm39)	L136H	probably damaging	Het
Ap1g2	A	G	14: 55,342,483 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,555,805 (GRCm39)	T355M	probably damaging	Het
Ap3s2	T	C	7: 79,564,989 (GRCm39)	D60G	possibly damaging	Het
Apold1	G	A	6: 134,960,558 (GRCm39)	R4Q	probably benign	Het
Atp13a5	G	T	16: 29,152,846 (GRCm39)	Q207K	possibly damaging	Het
BC035947	A	C	1: 78,474,666 (GRCm39)	I622S	probably damaging	Het
Bmper	G	T	9: 23,289,021 (GRCm39)	V339F	probably benign	Het
Btbd8	C	T	5: 107,655,176 (GRCm39)	Q992*	probably null	Het
C1ra	A	G	6: 124,499,293 (GRCm39)	D493G	probably damaging	Het
C3	C	T	17: 57,533,830 (GRCm39)		probably null	Het
Cabp4	T	A	19: 4,187,120 (GRCm39)	I209F	possibly damaging	Het
Camk2g	A	G	14: 20,842,652 (GRCm39)	V32A	probably benign	Het
Ccdc175	G	A	12: 72,206,527 (GRCm39)	R240C	probably damaging	Het
Cdk13	C	T	13: 17,946,988 (GRCm39)	S590N	possibly damaging	Het
Cfap45	A	T	1: 172,357,443 (GRCm39)	T24S	probably benign	Het
Clca3a1	T	G	3: 144,730,324 (GRCm39)	K174Q	probably damaging	Het
Col1a2	G	A	6: 4,529,058 (GRCm39)		probably benign	Het
Colgalt1	A	T	8: 72,073,277 (GRCm39)	I323F	possibly damaging	Het
Cpeb3	A	T	19: 37,152,059 (GRCm39)	S106T	probably damaging	Het
Cpeb3	T	C	19: 37,151,633 (GRCm39)	S248G	possibly damaging	Het
Ctcfl	C	T	2: 172,937,191 (GRCm39)	A576T	probably benign	Het
Cyp4f16	T	G	17: 32,769,295 (GRCm39)	V395G	possibly damaging	Het
Dchs1	C	T	7: 105,415,462 (GRCm39)	G605S	probably damaging	Het
Egflam	A	T	15: 7,249,110 (GRCm39)	F903I	probably damaging	Het
Eif5a	G	A	11: 69,808,311 (GRCm39)	A62V	possibly damaging	Het
Fam217a	A	G	13: 35,094,389 (GRCm39)	S609P	probably damaging	Het
Fhad1	T	A	4: 141,712,822 (GRCm39)	I206F	probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fras1	T	A	5: 96,856,617 (GRCm39)	M2000K	probably benign	Het
Frmd5	C	T	2: 121,422,134 (GRCm39)		probably null	Het
Gle1	T	C	2: 29,826,092 (GRCm39)	L57P	probably benign	Het
Glrx3	C	A	7: 137,046,765 (GRCm39)	N52K	probably damaging	Het
Grin3b	A	G	10: 79,812,938 (GRCm39)	*1004W	probably null	Het
Hectd4	T	A	5: 121,401,954 (GRCm39)	F347L	probably benign	Het
Htra1	G	A	7: 130,586,802 (GRCm39)	V462I	probably benign	Het
Itga11	A	G	9: 62,662,581 (GRCm39)	Y518C	probably damaging	Het
Krtap15-1	T	C	16: 88,626,253 (GRCm39)	F88L	probably benign	Het
Ktn1	A	T	14: 47,943,917 (GRCm39)	R866W	probably damaging	Het
Lamb1	G	A	12: 31,338,280 (GRCm39)	R483H	probably damaging	Het
Megf6	C	T	4: 154,349,848 (GRCm39)	R983C	probably damaging	Het
Mybpc3	T	A	2: 90,965,157 (GRCm39)	D1075E	probably benign	Het
Myo7b	A	T	18: 32,097,489 (GRCm39)	N1792K	probably benign	Het
Nabp2	A	T	10: 128,237,556 (GRCm39)		probably benign	Het
Neil3	A	G	8: 54,091,928 (GRCm39)	C7R	probably damaging	Het
Nxpe2	T	A	9: 48,230,897 (GRCm39)	I491F	possibly damaging	Het
Obscn	A	G	11: 58,952,291 (GRCm39)	V4292A	possibly damaging	Het
Ogfod3	A	G	11: 121,088,318 (GRCm39)	S139P	probably damaging	Het
Oog2	T	C	4: 143,921,669 (GRCm39)	I211T	possibly damaging	Het
Oosp1	T	C	19: 11,666,080 (GRCm39)	D70G	probably benign	Het
Or10j2	A	T	1: 173,098,546 (GRCm39)	D268V	probably damaging	Het
Or1ab2	A	G	8: 72,863,425 (GRCm39)	N5S	probably damaging	Het
Or56a42-ps1	C	A	7: 104,777,435 (GRCm39)	V70L	probably benign	Het
Or6c210	A	G	10: 129,496,589 (GRCm39)	I305V	probably benign	Het
Padi3	T	C	4: 140,522,937 (GRCm39)	D345G	probably damaging	Het
Pcyt2	A	G	11: 120,506,246 (GRCm39)	F71L	probably benign	Het
Pi4k2b	T	C	5: 52,911,971 (GRCm39)		probably benign	Het
Pigr	A	C	1: 130,776,195 (GRCm39)	T577P	possibly damaging	Het
Pirb	G	A	7: 3,722,361 (GRCm39)	Q161*	probably null	Het
Pnlip	A	G	19: 58,664,672 (GRCm39)	E204G	possibly damaging	Het
Pop7	G	T	5: 137,500,161 (GRCm39)	D57E	probably benign	Het
Ppfia4	A	T	1: 134,260,239 (GRCm39)	I8N	probably damaging	Het
Pprc1	A	G	19: 46,052,758 (GRCm39)	T759A	probably damaging	Het
Prom1	T	C	5: 44,202,894 (GRCm39)	N213S	probably benign	Het
Prop1	GCTTCACT	GCTTCACTTCACT	11: 50,842,863 (GRCm39)		probably null	Het
Prop1	A	T	11: 50,842,872 (GRCm39)	L105H	probably damaging	Het
Pwp2	A	T	10: 78,018,328 (GRCm39)	M121K	possibly damaging	Het
Rap1gds1	A	T	3: 138,689,509 (GRCm39)	M161K	possibly damaging	Het
Rps6kb2	T	A	19: 4,207,002 (GRCm39)		probably benign	Het
Rxfp1	A	G	3: 79,552,109 (GRCm39)	S731P	probably benign	Het
Scfd1	T	C	12: 51,437,195 (GRCm39)	V137A	probably benign	Het
Slc6a15	G	A	10: 103,240,275 (GRCm39)	D333N	probably damaging	Het
Sqor	T	C	2: 122,627,101 (GRCm39)	V74A	possibly damaging	Het
Stil	T	A	4: 114,881,422 (GRCm39)	Y655*	probably null	Het
Syt14	A	T	1: 192,581,167 (GRCm39)	I468K	probably damaging	Het
Tbc1d31	T	C	15: 57,825,661 (GRCm39)		probably null	Het
Tspyl5	A	T	15: 33,686,995 (GRCm39)	S317T	probably damaging	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttf2	T	C	3: 100,861,631 (GRCm39)	T620A	probably damaging	Het
Usp32	G	A	11: 84,946,598 (GRCm39)	Q269*	probably null	Het
Vsig10	T	A	5: 117,476,308 (GRCm39)	V254E	probably benign	Het
Wdr6	C	T	9: 108,450,187 (GRCm39)	A1114T	probably benign	Het
Zfp280d	A	G	9: 72,238,714 (GRCm39)	S63G	probably damaging	Het
Zfp607b	A	G	7: 27,403,221 (GRCm39)	D559G	probably benign	Het
Zfp934	T	C	13: 62,665,768 (GRCm39)	H291R	probably damaging	Het

Other mutations in Cacna1s

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Cacna1s	APN	1	136,012,011 (GRCm39)	nonsense	probably null
IGL00517:Cacna1s	APN	1	136,015,077 (GRCm39)	missense	probably damaging	1.00
IGL01316:Cacna1s	APN	1	136,046,702 (GRCm39)	missense	probably benign	0.01
IGL01348:Cacna1s	APN	1	136,002,890 (GRCm39)	missense	possibly damaging	0.95
IGL01739:Cacna1s	APN	1	136,024,870 (GRCm39)	critical splice donor site	probably null
IGL01773:Cacna1s	APN	1	136,046,491 (GRCm39)	missense	probably benign	0.32
IGL02056:Cacna1s	APN	1	136,046,738 (GRCm39)	missense	probably benign
IGL02262:Cacna1s	APN	1	136,035,867 (GRCm39)	missense	probably damaging	0.98
IGL02324:Cacna1s	APN	1	136,002,914 (GRCm39)	splice site	probably benign
IGL02352:Cacna1s	APN	1	136,020,990 (GRCm39)	splice site	probably benign
IGL02359:Cacna1s	APN	1	136,020,990 (GRCm39)	splice site	probably benign
IGL02370:Cacna1s	APN	1	136,013,085 (GRCm39)	missense	probably damaging	1.00
IGL02377:Cacna1s	APN	1	135,996,732 (GRCm39)	missense	probably damaging	1.00
IGL02474:Cacna1s	APN	1	136,046,118 (GRCm39)	missense	probably benign
IGL02606:Cacna1s	APN	1	136,007,257 (GRCm39)	missense	probably damaging	0.99
IGL02833:Cacna1s	APN	1	135,998,743 (GRCm39)	missense	probably benign	0.03
IGL02974:Cacna1s	APN	1	136,020,355 (GRCm39)	missense	possibly damaging	0.78
IGL03064:Cacna1s	APN	1	136,039,731 (GRCm39)	missense	probably damaging	1.00
IGL03093:Cacna1s	APN	1	136,043,802 (GRCm39)	missense	probably benign	0.00
IGL03286:Cacna1s	APN	1	136,005,397 (GRCm39)	missense	probably benign
brookstone	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
flyfish	UTSW	1	136,043,799 (GRCm39)	missense	probably benign	0.21
forelle	UTSW	1	136,023,596 (GRCm39)	missense	probably damaging	0.99
river	UTSW	1	136,033,582 (GRCm39)	missense	possibly damaging	0.88
stream	UTSW	1	136,033,552 (GRCm39)	missense	probably damaging	1.00
BB009:Cacna1s	UTSW	1	136,012,097 (GRCm39)	missense	probably damaging	0.99
BB019:Cacna1s	UTSW	1	136,012,097 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Cacna1s	UTSW	1	136,001,179 (GRCm39)	unclassified	probably benign
N/A:Cacna1s	UTSW	1	136,001,247 (GRCm39)	missense	probably benign	0.00
R0030:Cacna1s	UTSW	1	136,022,727 (GRCm39)	critical splice donor site	probably null
R0030:Cacna1s	UTSW	1	136,022,727 (GRCm39)	critical splice donor site	probably null
R0097:Cacna1s	UTSW	1	136,028,360 (GRCm39)	missense	possibly damaging	0.79
R0097:Cacna1s	UTSW	1	136,028,360 (GRCm39)	missense	possibly damaging	0.79
R0240:Cacna1s	UTSW	1	136,001,234 (GRCm39)	unclassified	probably benign
R0255:Cacna1s	UTSW	1	136,046,544 (GRCm39)	missense	possibly damaging	0.93
R0302:Cacna1s	UTSW	1	136,028,342 (GRCm39)	missense	probably benign	0.01
R0319:Cacna1s	UTSW	1	135,998,455 (GRCm39)	missense	probably damaging	0.99
R0411:Cacna1s	UTSW	1	136,041,041 (GRCm39)	missense	probably damaging	1.00
R0413:Cacna1s	UTSW	1	136,025,947 (GRCm39)	missense	probably benign	0.00
R0482:Cacna1s	UTSW	1	136,041,132 (GRCm39)	missense	probably benign
R0491:Cacna1s	UTSW	1	136,016,746 (GRCm39)	splice site	probably benign
R0518:Cacna1s	UTSW	1	136,004,597 (GRCm39)	missense	probably benign
R0717:Cacna1s	UTSW	1	136,026,029 (GRCm39)	missense	probably damaging	1.00
R0725:Cacna1s	UTSW	1	136,026,264 (GRCm39)	splice site	probably benign
R0815:Cacna1s	UTSW	1	136,040,695 (GRCm39)	missense	possibly damaging	0.95
R1384:Cacna1s	UTSW	1	136,022,709 (GRCm39)	missense	probably benign	0.02
R1518:Cacna1s	UTSW	1	136,026,289 (GRCm39)	missense	probably damaging	1.00
R1548:Cacna1s	UTSW	1	136,038,675 (GRCm39)	missense	probably damaging	1.00
R1725:Cacna1s	UTSW	1	136,026,361 (GRCm39)	missense	probably damaging	1.00
R1728:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1729:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1730:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1739:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1762:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1783:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1784:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1785:Cacna1s	UTSW	1	136,046,454 (GRCm39)	missense	probably benign
R1800:Cacna1s	UTSW	1	136,004,592 (GRCm39)	missense	probably benign
R1924:Cacna1s	UTSW	1	136,016,755 (GRCm39)	splice site	probably null
R1969:Cacna1s	UTSW	1	136,046,833 (GRCm39)	missense	probably benign	0.42
R2072:Cacna1s	UTSW	1	136,007,242 (GRCm39)	missense	probably benign
R2380:Cacna1s	UTSW	1	136,023,586 (GRCm39)	missense	probably damaging	1.00
R3110:Cacna1s	UTSW	1	136,002,831 (GRCm39)	nonsense	probably null
R3112:Cacna1s	UTSW	1	136,002,831 (GRCm39)	nonsense	probably null
R3151:Cacna1s	UTSW	1	136,033,532 (GRCm39)	missense	probably damaging	1.00
R3696:Cacna1s	UTSW	1	136,033,552 (GRCm39)	missense	probably damaging	1.00
R3722:Cacna1s	UTSW	1	135,996,780 (GRCm39)	missense	possibly damaging	0.77
R3804:Cacna1s	UTSW	1	136,034,756 (GRCm39)	missense	possibly damaging	0.85
R3813:Cacna1s	UTSW	1	136,013,085 (GRCm39)	missense	probably damaging	1.00
R3905:Cacna1s	UTSW	1	136,012,007 (GRCm39)	missense	probably damaging	0.99
R3907:Cacna1s	UTSW	1	136,012,007 (GRCm39)	missense	probably damaging	0.99
R3909:Cacna1s	UTSW	1	136,012,007 (GRCm39)	missense	probably damaging	0.99
R4170:Cacna1s	UTSW	1	136,035,933 (GRCm39)	missense	probably damaging	1.00
R4329:Cacna1s	UTSW	1	136,046,771 (GRCm39)	missense	probably benign	0.00
R4485:Cacna1s	UTSW	1	136,004,590 (GRCm39)	missense	probably damaging	1.00
R4581:Cacna1s	UTSW	1	135,998,708 (GRCm39)	splice site	probably null
R4719:Cacna1s	UTSW	1	136,046,390 (GRCm39)	splice site	probably benign
R4816:Cacna1s	UTSW	1	136,043,007 (GRCm39)	missense	possibly damaging	0.89
R4917:Cacna1s	UTSW	1	136,029,302 (GRCm39)	critical splice donor site	probably null
R5296:Cacna1s	UTSW	1	136,023,523 (GRCm39)	missense	probably benign	0.11
R5411:Cacna1s	UTSW	1	136,033,549 (GRCm39)	missense	probably benign	0.09
R5503:Cacna1s	UTSW	1	136,014,480 (GRCm39)	missense	probably damaging	1.00
R5533:Cacna1s	UTSW	1	136,026,113 (GRCm39)	critical splice donor site	probably null
R5714:Cacna1s	UTSW	1	136,039,804 (GRCm39)	missense	probably benign	0.44
R5775:Cacna1s	UTSW	1	136,035,860 (GRCm39)	missense	probably damaging	1.00
R5814:Cacna1s	UTSW	1	136,034,880 (GRCm39)	missense	probably benign	0.31
R5820:Cacna1s	UTSW	1	136,007,342 (GRCm39)	missense	probably damaging	1.00
R5822:Cacna1s	UTSW	1	136,039,816 (GRCm39)	missense	probably damaging	1.00
R5877:Cacna1s	UTSW	1	136,028,405 (GRCm39)	missense	probably damaging	0.99
R5923:Cacna1s	UTSW	1	136,004,560 (GRCm39)	missense	possibly damaging	0.79
R6021:Cacna1s	UTSW	1	136,034,225 (GRCm39)	missense	probably benign	0.15
R6037:Cacna1s	UTSW	1	135,998,705 (GRCm39)	missense	possibly damaging	0.90
R6037:Cacna1s	UTSW	1	135,998,705 (GRCm39)	missense	possibly damaging	0.90
R6056:Cacna1s	UTSW	1	136,033,574 (GRCm39)	missense	probably damaging	1.00
R6143:Cacna1s	UTSW	1	136,004,496 (GRCm39)	missense	probably damaging	0.99
R6222:Cacna1s	UTSW	1	136,032,360 (GRCm39)	missense	probably benign	0.00
R6237:Cacna1s	UTSW	1	136,033,582 (GRCm39)	missense	possibly damaging	0.88
R6274:Cacna1s	UTSW	1	136,016,783 (GRCm39)	missense	probably benign	0.02
R6609:Cacna1s	UTSW	1	136,041,129 (GRCm39)	missense	probably benign	0.30
R6626:Cacna1s	UTSW	1	136,022,703 (GRCm39)	missense	probably damaging	1.00
R6838:Cacna1s	UTSW	1	136,012,175 (GRCm39)	missense	possibly damaging	0.91
R6848:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6849:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6850:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6851:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6868:Cacna1s	UTSW	1	136,020,432 (GRCm39)	missense	probably benign	0.01
R6879:Cacna1s	UTSW	1	136,043,697 (GRCm39)	missense	probably benign	0.12
R6893:Cacna1s	UTSW	1	136,005,431 (GRCm39)	missense	probably benign	0.05
R7017:Cacna1s	UTSW	1	136,023,596 (GRCm39)	missense	probably damaging	0.99
R7228:Cacna1s	UTSW	1	135,998,797 (GRCm39)	missense	possibly damaging	0.90
R7283:Cacna1s	UTSW	1	136,001,446 (GRCm39)	missense	probably damaging	1.00
R7357:Cacna1s	UTSW	1	135,998,759 (GRCm39)	missense	probably damaging	0.99
R7385:Cacna1s	UTSW	1	136,020,371 (GRCm39)	missense	probably damaging	0.99
R7421:Cacna1s	UTSW	1	136,014,540 (GRCm39)	missense	probably damaging	1.00
R7505:Cacna1s	UTSW	1	136,013,187 (GRCm39)	nonsense	probably null
R7519:Cacna1s	UTSW	1	135,998,494 (GRCm39)	missense	probably damaging	0.99
R7675:Cacna1s	UTSW	1	136,038,612 (GRCm39)	missense	probably damaging	1.00
R7746:Cacna1s	UTSW	1	135,996,756 (GRCm39)	missense	probably damaging	0.99
R7779:Cacna1s	UTSW	1	136,046,767 (GRCm39)	missense	probably damaging	1.00
R7850:Cacna1s	UTSW	1	135,998,786 (GRCm39)	missense	probably damaging	1.00
R7932:Cacna1s	UTSW	1	136,012,097 (GRCm39)	missense	probably damaging	0.99
R7935:Cacna1s	UTSW	1	136,020,333 (GRCm39)	missense	possibly damaging	0.62
R7950:Cacna1s	UTSW	1	136,028,363 (GRCm39)	missense	probably benign	0.01
R7969:Cacna1s	UTSW	1	136,004,470 (GRCm39)	missense	probably damaging	1.00
R8083:Cacna1s	UTSW	1	136,023,529 (GRCm39)	missense	possibly damaging	0.91
R8101:Cacna1s	UTSW	1	136,046,403 (GRCm39)	missense	probably benign	0.02
R8123:Cacna1s	UTSW	1	136,035,917 (GRCm39)	missense	probably damaging	1.00
R8191:Cacna1s	UTSW	1	136,035,893 (GRCm39)	missense	probably damaging	1.00
R8194:Cacna1s	UTSW	1	136,005,430 (GRCm39)	missense	probably benign	0.33
R8251:Cacna1s	UTSW	1	136,014,461 (GRCm39)	missense	probably damaging	1.00
R8265:Cacna1s	UTSW	1	136,020,364 (GRCm39)	nonsense	probably null
R8301:Cacna1s	UTSW	1	136,001,179 (GRCm39)	unclassified	probably benign
R8310:Cacna1s	UTSW	1	136,015,075 (GRCm39)	missense	probably damaging	1.00
R8359:Cacna1s	UTSW	1	136,043,799 (GRCm39)	missense	probably benign	0.21
R8461:Cacna1s	UTSW	1	136,001,440 (GRCm39)	missense	possibly damaging	0.53
R8553:Cacna1s	UTSW	1	136,019,540 (GRCm39)	missense	possibly damaging	0.93
R8743:Cacna1s	UTSW	1	136,033,286 (GRCm39)	missense	probably damaging	1.00
R8766:Cacna1s	UTSW	1	136,002,881 (GRCm39)	missense	probably damaging	1.00
R8884:Cacna1s	UTSW	1	136,042,981 (GRCm39)	missense	probably benign	0.05
R8897:Cacna1s	UTSW	1	136,045,392 (GRCm39)	missense	probably benign	0.01
R8939:Cacna1s	UTSW	1	136,014,544 (GRCm39)	critical splice donor site	probably null
R8953:Cacna1s	UTSW	1	136,025,170 (GRCm39)	missense	possibly damaging	0.94
R9039:Cacna1s	UTSW	1	136,016,057 (GRCm39)	missense	probably benign
R9058:Cacna1s	UTSW	1	135,998,436 (GRCm39)	nonsense	probably null
R9137:Cacna1s	UTSW	1	135,996,744 (GRCm39)	missense	possibly damaging	0.89
R9332:Cacna1s	UTSW	1	136,020,452 (GRCm39)	nonsense	probably null
R9416:Cacna1s	UTSW	1	136,022,689 (GRCm39)	missense	possibly damaging	0.88
R9427:Cacna1s	UTSW	1	136,012,090 (GRCm39)	missense	probably benign	0.30
R9446:Cacna1s	UTSW	1	136,045,362 (GRCm39)	missense	probably benign	0.00
R9564:Cacna1s	UTSW	1	136,046,516 (GRCm39)	missense	probably benign
R9620:Cacna1s	UTSW	1	136,035,909 (GRCm39)	missense	probably damaging	1.00
X0025:Cacna1s	UTSW	1	136,043,708 (GRCm39)	missense	probably benign	0.00
Z1176:Cacna1s	UTSW	1	136,034,822 (GRCm39)	nonsense	probably null
Z1177:Cacna1s	UTSW	1	136,045,424 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTGCATGCCCAGAAAGGAG -3'
(R):5'- AGTGAGCATGCCATCTTGCC -3'

Sequencing Primer
(F):5'- AAGCCAGGCTGGGGTGTG -3'
(R):5'- AGCATGCCATCTTGCCTTTTGAAG -3'

Posted On

2016-04-15