Mutagenetix > Incidental Mutation

Incidental Mutation 'R3112:Cacna1s'

263719

Institutional Source

Beutler Lab

Gene Symbol

Cacna1s

Ensembl Gene

ENSMUSG00000026407

Gene Name

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

Synonyms

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

MMRRC Submission

040585-MU

Accession Numbers

Genbank: NM_001081023; MGI: 88294

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136052750-136119822 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 136075093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 62 (W62*)

Ref Sequence

ENSEMBL: ENSMUSP00000125262 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000112064
AA Change: W309*

SMART Domains

Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: W309*

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 null
Transcript: ENSMUST00000112068
AA Change: W309*

SMART Domains

Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: W309*

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 null
Transcript: ENSMUST00000160641
AA Change: W309*

SMART Domains

Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: W309*

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 null
Transcript: ENSMUST00000161865
AA Change: W62*

SMART Domains

Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: W62*

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

0.9717

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

MGI Phenotype

Strain: 1856326
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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054 (GRCm38)	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829 (GRCm38)	K1554*	probably null	Het
Acads	T	C	5: 115,117,698 (GRCm38)	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406 (GRCm38)	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457 (GRCm38)	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505 (GRCm38)	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972 (GRCm38)	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694 (GRCm38)	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551 (GRCm38)	N216I	possibly damaging	Het
Ccdc141	C	T	2: 77,039,486 (GRCm38)	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470 (GRCm38)	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698 (GRCm38)		probably null	Het
Cpb1	C	T	3: 20,265,357 (GRCm38)	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922 (GRCm38)	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972 (GRCm38)	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666 (GRCm38)	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030 (GRCm38)	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231 (GRCm38)	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635 (GRCm38)	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221 (GRCm38)	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146 (GRCm38)	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155 (GRCm38)	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273 (GRCm38)	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347 (GRCm38)		probably null	Het
Grn	A	G	11: 102,433,243 (GRCm38)	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846 (GRCm38)		probably benign	Het
Hmgxb3	T	C	18: 61,147,382 (GRCm38)	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911 (GRCm38)	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669 (GRCm38)	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571 (GRCm38)	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276 (GRCm38)	N661K	probably damaging	Het
Lipe	T	C	7: 25,398,423 (GRCm38)	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695 (GRCm38)	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263 (GRCm38)	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006 (GRCm38)	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996 (GRCm38)	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488 (GRCm38)		probably benign	Het
Mybl1	T	C	1: 9,681,870 (GRCm38)	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685 (GRCm38)	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872 (GRCm38)	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497 (GRCm38)	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224 (GRCm38)	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676 (GRCm38)	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919 (GRCm38)	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918 (GRCm38)	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560 (GRCm38)	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129 (GRCm38)	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042 (GRCm38)		probably benign	Het
Phactr3	T	A	2: 178,279,017 (GRCm38)	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083 (GRCm38)	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531 (GRCm38)	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147 (GRCm38)		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832 (GRCm38)	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856 (GRCm38)	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800 (GRCm38)		probably benign	Het
Psg23	T	C	7: 18,610,444 (GRCm38)	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131 (GRCm38)	L15P	probably damaging	Het
Scrib	A	T	15: 76,069,374 (GRCm38)	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682 (GRCm38)	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864 (GRCm38)	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600 (GRCm38)	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947 (GRCm38)	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484 (GRCm38)	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024 (GRCm38)	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768 (GRCm38)	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286 (GRCm38)	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638 (GRCm38)	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834 (GRCm38)	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499 (GRCm38)	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848 (GRCm38)		probably null	Het
Wee1	T	A	7: 110,130,836 (GRCm38)	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564 (GRCm38)	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226 (GRCm38)	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162 (GRCm38)	I283L	possibly damaging	Het

Other mutations in Cacna1s

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Cacna1s	APN	1	136,084,273 (GRCm38)	nonsense	probably null
IGL00517:Cacna1s	APN	1	136,087,339 (GRCm38)	missense	probably damaging	1.00
IGL01316:Cacna1s	APN	1	136,118,964 (GRCm38)	missense	probably benign	0.01
IGL01348:Cacna1s	APN	1	136,075,152 (GRCm38)	missense	possibly damaging	0.95
IGL01739:Cacna1s	APN	1	136,097,132 (GRCm38)	critical splice donor site	probably null
IGL01773:Cacna1s	APN	1	136,118,753 (GRCm38)	missense	probably benign	0.32
IGL02056:Cacna1s	APN	1	136,119,000 (GRCm38)	missense	probably benign
IGL02262:Cacna1s	APN	1	136,108,129 (GRCm38)	missense	probably damaging	0.98
IGL02324:Cacna1s	APN	1	136,075,176 (GRCm38)	splice site	probably benign
IGL02352:Cacna1s	APN	1	136,093,252 (GRCm38)	splice site	probably benign
IGL02359:Cacna1s	APN	1	136,093,252 (GRCm38)	splice site	probably benign
IGL02370:Cacna1s	APN	1	136,085,347 (GRCm38)	missense	probably damaging	1.00
IGL02377:Cacna1s	APN	1	136,068,994 (GRCm38)	missense	probably damaging	1.00
IGL02474:Cacna1s	APN	1	136,118,380 (GRCm38)	missense	probably benign
IGL02606:Cacna1s	APN	1	136,079,519 (GRCm38)	missense	probably damaging	0.99
IGL02833:Cacna1s	APN	1	136,071,005 (GRCm38)	missense	probably benign	0.03
IGL02974:Cacna1s	APN	1	136,092,617 (GRCm38)	missense	possibly damaging	0.78
IGL03064:Cacna1s	APN	1	136,111,993 (GRCm38)	missense	probably damaging	1.00
IGL03093:Cacna1s	APN	1	136,116,064 (GRCm38)	missense	probably benign	0.00
IGL03286:Cacna1s	APN	1	136,077,659 (GRCm38)	missense	probably benign
brookstone	UTSW	1	136,092,694 (GRCm38)	missense	probably benign	0.01
flyfish	UTSW	1	136,116,061 (GRCm38)	missense	probably benign	0.21
forelle	UTSW	1	136,095,858 (GRCm38)	missense	probably damaging	0.99
river	UTSW	1	136,105,844 (GRCm38)	missense	possibly damaging	0.88
stream	UTSW	1	136,105,814 (GRCm38)	missense	probably damaging	1.00
BB009:Cacna1s	UTSW	1	136,084,359 (GRCm38)	missense	probably damaging	0.99
BB019:Cacna1s	UTSW	1	136,084,359 (GRCm38)	missense	probably damaging	0.99
G1Funyon:Cacna1s	UTSW	1	136,073,441 (GRCm38)	unclassified	probably benign
N/A:Cacna1s	UTSW	1	136,073,509 (GRCm38)	missense	probably benign	0.00
R0030:Cacna1s	UTSW	1	136,094,989 (GRCm38)	critical splice donor site	probably null
R0030:Cacna1s	UTSW	1	136,094,989 (GRCm38)	critical splice donor site	probably null
R0097:Cacna1s	UTSW	1	136,100,622 (GRCm38)	missense	possibly damaging	0.79
R0097:Cacna1s	UTSW	1	136,100,622 (GRCm38)	missense	possibly damaging	0.79
R0240:Cacna1s	UTSW	1	136,073,496 (GRCm38)	unclassified	probably benign
R0255:Cacna1s	UTSW	1	136,118,806 (GRCm38)	missense	possibly damaging	0.93
R0302:Cacna1s	UTSW	1	136,100,604 (GRCm38)	missense	probably benign	0.01
R0319:Cacna1s	UTSW	1	136,070,717 (GRCm38)	missense	probably damaging	0.99
R0411:Cacna1s	UTSW	1	136,113,303 (GRCm38)	missense	probably damaging	1.00
R0413:Cacna1s	UTSW	1	136,098,209 (GRCm38)	missense	probably benign	0.00
R0482:Cacna1s	UTSW	1	136,113,394 (GRCm38)	missense	probably benign
R0491:Cacna1s	UTSW	1	136,089,008 (GRCm38)	splice site	probably benign
R0518:Cacna1s	UTSW	1	136,076,859 (GRCm38)	missense	probably benign
R0717:Cacna1s	UTSW	1	136,098,291 (GRCm38)	missense	probably damaging	1.00
R0725:Cacna1s	UTSW	1	136,098,526 (GRCm38)	splice site	probably benign
R0815:Cacna1s	UTSW	1	136,112,957 (GRCm38)	missense	possibly damaging	0.95
R1384:Cacna1s	UTSW	1	136,094,971 (GRCm38)	missense	probably benign	0.02
R1518:Cacna1s	UTSW	1	136,098,551 (GRCm38)	missense	probably damaging	1.00
R1548:Cacna1s	UTSW	1	136,110,937 (GRCm38)	missense	probably damaging	1.00
R1725:Cacna1s	UTSW	1	136,098,623 (GRCm38)	missense	probably damaging	1.00
R1728:Cacna1s	UTSW	1	136,118,716 (GRCm38)	missense	probably benign
R1729:Cacna1s	UTSW	1	136,118,716 (GRCm38)	missense	probably benign
R1730:Cacna1s	UTSW	1	136,118,716 (GRCm38)	missense	probably benign
R1739:Cacna1s	UTSW	1	136,118,716 (GRCm38)	missense	probably benign
R1762:Cacna1s	UTSW	1	136,118,716 (GRCm38)	missense	probably benign
R1783:Cacna1s	UTSW	1	136,118,716 (GRCm38)	missense	probably benign
R1784:Cacna1s	UTSW	1	136,118,716 (GRCm38)	missense	probably benign
R1785:Cacna1s	UTSW	1	136,118,716 (GRCm38)	missense	probably benign
R1800:Cacna1s	UTSW	1	136,076,854 (GRCm38)	missense	probably benign
R1924:Cacna1s	UTSW	1	136,089,017 (GRCm38)	splice site	probably null
R1969:Cacna1s	UTSW	1	136,119,095 (GRCm38)	missense	probably benign	0.42
R2072:Cacna1s	UTSW	1	136,079,504 (GRCm38)	missense	probably benign
R2380:Cacna1s	UTSW	1	136,095,848 (GRCm38)	missense	probably damaging	1.00
R3110:Cacna1s	UTSW	1	136,075,093 (GRCm38)	nonsense	probably null
R3151:Cacna1s	UTSW	1	136,105,794 (GRCm38)	missense	probably damaging	1.00
R3696:Cacna1s	UTSW	1	136,105,814 (GRCm38)	missense	probably damaging	1.00
R3722:Cacna1s	UTSW	1	136,069,042 (GRCm38)	missense	possibly damaging	0.77
R3804:Cacna1s	UTSW	1	136,107,018 (GRCm38)	missense	possibly damaging	0.85
R3813:Cacna1s	UTSW	1	136,085,347 (GRCm38)	missense	probably damaging	1.00
R3905:Cacna1s	UTSW	1	136,084,269 (GRCm38)	missense	probably damaging	0.99
R3907:Cacna1s	UTSW	1	136,084,269 (GRCm38)	missense	probably damaging	0.99
R3909:Cacna1s	UTSW	1	136,084,269 (GRCm38)	missense	probably damaging	0.99
R4170:Cacna1s	UTSW	1	136,108,195 (GRCm38)	missense	probably damaging	1.00
R4329:Cacna1s	UTSW	1	136,119,033 (GRCm38)	missense	probably benign	0.00
R4485:Cacna1s	UTSW	1	136,076,852 (GRCm38)	missense	probably damaging	1.00
R4581:Cacna1s	UTSW	1	136,070,970 (GRCm38)	splice site	probably null
R4719:Cacna1s	UTSW	1	136,118,652 (GRCm38)	splice site	probably benign
R4816:Cacna1s	UTSW	1	136,115,269 (GRCm38)	missense	possibly damaging	0.89
R4909:Cacna1s	UTSW	1	136,079,604 (GRCm38)	missense	probably damaging	0.99
R4917:Cacna1s	UTSW	1	136,101,564 (GRCm38)	critical splice donor site	probably null
R5296:Cacna1s	UTSW	1	136,095,785 (GRCm38)	missense	probably benign	0.11
R5411:Cacna1s	UTSW	1	136,105,811 (GRCm38)	missense	probably benign	0.09
R5503:Cacna1s	UTSW	1	136,086,742 (GRCm38)	missense	probably damaging	1.00
R5533:Cacna1s	UTSW	1	136,098,375 (GRCm38)	critical splice donor site	probably null
R5714:Cacna1s	UTSW	1	136,112,066 (GRCm38)	missense	probably benign	0.44
R5775:Cacna1s	UTSW	1	136,108,122 (GRCm38)	missense	probably damaging	1.00
R5814:Cacna1s	UTSW	1	136,107,142 (GRCm38)	missense	probably benign	0.31
R5820:Cacna1s	UTSW	1	136,079,604 (GRCm38)	missense	probably damaging	1.00
R5822:Cacna1s	UTSW	1	136,112,078 (GRCm38)	missense	probably damaging	1.00
R5877:Cacna1s	UTSW	1	136,100,667 (GRCm38)	missense	probably damaging	0.99
R5923:Cacna1s	UTSW	1	136,076,822 (GRCm38)	missense	possibly damaging	0.79
R6021:Cacna1s	UTSW	1	136,106,487 (GRCm38)	missense	probably benign	0.15
R6037:Cacna1s	UTSW	1	136,070,967 (GRCm38)	missense	possibly damaging	0.90
R6037:Cacna1s	UTSW	1	136,070,967 (GRCm38)	missense	possibly damaging	0.90
R6056:Cacna1s	UTSW	1	136,105,836 (GRCm38)	missense	probably damaging	1.00
R6143:Cacna1s	UTSW	1	136,076,758 (GRCm38)	missense	probably damaging	0.99
R6222:Cacna1s	UTSW	1	136,104,622 (GRCm38)	missense	probably benign	0.00
R6237:Cacna1s	UTSW	1	136,105,844 (GRCm38)	missense	possibly damaging	0.88
R6274:Cacna1s	UTSW	1	136,089,045 (GRCm38)	missense	probably benign	0.02
R6609:Cacna1s	UTSW	1	136,113,391 (GRCm38)	missense	probably benign	0.30
R6626:Cacna1s	UTSW	1	136,094,965 (GRCm38)	missense	probably damaging	1.00
R6838:Cacna1s	UTSW	1	136,084,437 (GRCm38)	missense	possibly damaging	0.91
R6848:Cacna1s	UTSW	1	136,092,694 (GRCm38)	missense	probably benign	0.01
R6849:Cacna1s	UTSW	1	136,092,694 (GRCm38)	missense	probably benign	0.01
R6850:Cacna1s	UTSW	1	136,092,694 (GRCm38)	missense	probably benign	0.01
R6851:Cacna1s	UTSW	1	136,092,694 (GRCm38)	missense	probably benign	0.01
R6868:Cacna1s	UTSW	1	136,092,694 (GRCm38)	missense	probably benign	0.01
R6879:Cacna1s	UTSW	1	136,115,959 (GRCm38)	missense	probably benign	0.12
R6893:Cacna1s	UTSW	1	136,077,693 (GRCm38)	missense	probably benign	0.05
R7017:Cacna1s	UTSW	1	136,095,858 (GRCm38)	missense	probably damaging	0.99
R7228:Cacna1s	UTSW	1	136,071,059 (GRCm38)	missense	possibly damaging	0.90
R7283:Cacna1s	UTSW	1	136,073,708 (GRCm38)	missense	probably damaging	1.00
R7357:Cacna1s	UTSW	1	136,071,021 (GRCm38)	missense	probably damaging	0.99
R7385:Cacna1s	UTSW	1	136,092,633 (GRCm38)	missense	probably damaging	0.99
R7421:Cacna1s	UTSW	1	136,086,802 (GRCm38)	missense	probably damaging	1.00
R7505:Cacna1s	UTSW	1	136,085,449 (GRCm38)	nonsense	probably null
R7519:Cacna1s	UTSW	1	136,070,756 (GRCm38)	missense	probably damaging	0.99
R7675:Cacna1s	UTSW	1	136,110,874 (GRCm38)	missense	probably damaging	1.00
R7746:Cacna1s	UTSW	1	136,069,018 (GRCm38)	missense	probably damaging	0.99
R7779:Cacna1s	UTSW	1	136,119,029 (GRCm38)	missense	probably damaging	1.00
R7850:Cacna1s	UTSW	1	136,071,048 (GRCm38)	missense	probably damaging	1.00
R7932:Cacna1s	UTSW	1	136,084,359 (GRCm38)	missense	probably damaging	0.99
R7935:Cacna1s	UTSW	1	136,092,595 (GRCm38)	missense	possibly damaging	0.62
R7950:Cacna1s	UTSW	1	136,100,625 (GRCm38)	missense	probably benign	0.01
R7969:Cacna1s	UTSW	1	136,076,732 (GRCm38)	missense	probably damaging	1.00
R8083:Cacna1s	UTSW	1	136,095,791 (GRCm38)	missense	possibly damaging	0.91
R8101:Cacna1s	UTSW	1	136,118,665 (GRCm38)	missense	probably benign	0.02
R8123:Cacna1s	UTSW	1	136,108,179 (GRCm38)	missense	probably damaging	1.00
R8191:Cacna1s	UTSW	1	136,108,155 (GRCm38)	missense	probably damaging	1.00
R8194:Cacna1s	UTSW	1	136,077,692 (GRCm38)	missense	probably benign	0.33
R8251:Cacna1s	UTSW	1	136,086,723 (GRCm38)	missense	probably damaging	1.00
R8265:Cacna1s	UTSW	1	136,092,626 (GRCm38)	nonsense	probably null
R8301:Cacna1s	UTSW	1	136,073,441 (GRCm38)	unclassified	probably benign
R8310:Cacna1s	UTSW	1	136,087,337 (GRCm38)	missense	probably damaging	1.00
R8359:Cacna1s	UTSW	1	136,116,061 (GRCm38)	missense	probably benign	0.21
R8461:Cacna1s	UTSW	1	136,073,702 (GRCm38)	missense	possibly damaging	0.53
R8553:Cacna1s	UTSW	1	136,091,802 (GRCm38)	missense	possibly damaging	0.93
R8743:Cacna1s	UTSW	1	136,105,548 (GRCm38)	missense	probably damaging	1.00
R8766:Cacna1s	UTSW	1	136,075,143 (GRCm38)	missense	probably damaging	1.00
R8884:Cacna1s	UTSW	1	136,115,243 (GRCm38)	missense	probably benign	0.05
R8897:Cacna1s	UTSW	1	136,117,654 (GRCm38)	missense	probably benign	0.01
R8939:Cacna1s	UTSW	1	136,086,806 (GRCm38)	critical splice donor site	probably null
R8953:Cacna1s	UTSW	1	136,097,432 (GRCm38)	missense	possibly damaging	0.94
R9039:Cacna1s	UTSW	1	136,088,319 (GRCm38)	missense	probably benign
R9058:Cacna1s	UTSW	1	136,070,698 (GRCm38)	nonsense	probably null
R9137:Cacna1s	UTSW	1	136,069,006 (GRCm38)	missense	possibly damaging	0.89
R9332:Cacna1s	UTSW	1	136,092,714 (GRCm38)	nonsense	probably null
R9416:Cacna1s	UTSW	1	136,094,951 (GRCm38)	missense	possibly damaging	0.88
R9427:Cacna1s	UTSW	1	136,084,352 (GRCm38)	missense	probably benign	0.30
R9446:Cacna1s	UTSW	1	136,117,624 (GRCm38)	missense	probably benign	0.00
R9564:Cacna1s	UTSW	1	136,118,778 (GRCm38)	missense	probably benign
R9620:Cacna1s	UTSW	1	136,108,171 (GRCm38)	missense	probably damaging	1.00
X0025:Cacna1s	UTSW	1	136,115,970 (GRCm38)	missense	probably benign	0.00
Z1176:Cacna1s	UTSW	1	136,107,084 (GRCm38)	nonsense	probably null
Z1177:Cacna1s	UTSW	1	136,117,686 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGGTCACAGAAGATCGCTAC -3'
(R):5'- AAGAAGAAGTGTGCCTGGCC -3'

Sequencing Primer
(F):5'- TGGTTGTAAAGAAACTGACTGC -3'
(R):5'- CTGGCAGGGCTGAGAGCTG -3'

Posted On

2015-02-05