Mutagenetix > Incidental Mutation

Incidental Mutation 'R7017:Cacna1s'

545348

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

045118-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135980549-136047268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136023596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 945 (I945T)

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: I945T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: I945T

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

possibly damaging
Transcript: ENSMUST00000112068
AA Change: I945T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: I945T

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: I945T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: I945T

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

possibly damaging
Transcript: ENSMUST00000161865
AA Change: I698T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: I698T

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

0.9194

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,926 (GRCm39)		probably benign	Het
Acot3	A	T	12: 84,100,077 (GRCm39)		probably benign	Het
Add3	T	A	19: 53,222,284 (GRCm39)	V297E	possibly damaging	Het
Arfgap1	C	G	2: 180,618,097 (GRCm39)		probably null	Het
Cacna1i	T	C	15: 80,264,671 (GRCm39)	F1500L	probably damaging	Het
Ccdc180	T	A	4: 45,940,934 (GRCm39)	N1334K	possibly damaging	Het
Cd5l	C	A	3: 87,273,368 (GRCm39)	Y112*	probably null	Het
Cracd	GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GAGACAACGCGAGGCCGAGAGGCAGG	5: 77,004,795 (GRCm39)		probably benign	Het
Cyp2d40	A	T	15: 82,644,234 (GRCm39)	F297Y	unknown	Het
Ddx4	C	T	13: 112,738,022 (GRCm39)	V546I	probably damaging	Het
Dgkg	T	C	16: 22,391,463 (GRCm39)	M332V	probably benign	Het
Dnah12	T	C	14: 26,456,835 (GRCm39)	I867T	probably benign	Het
Dnah2	T	A	11: 69,382,373 (GRCm39)	K1246*	probably null	Het
Drd2	G	A	9: 49,312,129 (GRCm39)	V161I	probably benign	Het
Dsp	A	G	13: 38,370,683 (GRCm39)	D862G	probably benign	Het
Ephx4	T	C	5: 107,553,980 (GRCm39)	F10S	probably damaging	Het
Fabp9	C	A	3: 10,259,756 (GRCm39)	A76S	possibly damaging	Het
Fat4	G	A	3: 38,945,692 (GRCm39)	M1528I	probably benign	Het
Fbxl12	A	G	9: 20,529,616 (GRCm39)	S84P	unknown	Het
Fbxo40	T	C	16: 36,790,732 (GRCm39)	D126G	probably damaging	Het
Fpr1	C	T	17: 18,097,654 (GRCm39)	V112I	probably benign	Het
Frem2	T	C	3: 53,427,023 (GRCm39)	N2975S	probably benign	Het
Gask1a	T	C	9: 121,795,052 (GRCm39)		probably null	Het
Gm7945	T	C	14: 41,105,610 (GRCm39)	Y156C		Het
Gnpat	T	C	8: 125,590,014 (GRCm39)	V13A	probably benign	Het
Gpx5	G	A	13: 21,475,561 (GRCm39)	P55L	probably damaging	Het
Hbp1	A	G	12: 31,993,852 (GRCm39)	S59P	probably damaging	Het
Ighv1-36	T	A	12: 114,843,533 (GRCm39)	D109V	probably damaging	Het
Iqcf5	T	A	9: 106,392,863 (GRCm39)	I40N	possibly damaging	Het
Kcnma1	T	G	14: 23,544,711 (GRCm39)	I484L	possibly damaging	Het
Kera	A	T	10: 97,444,939 (GRCm39)	R99S	possibly damaging	Het
Kif3b	T	A	2: 153,171,644 (GRCm39)	S707R	possibly damaging	Het
Lilra6	G	T	7: 3,911,707 (GRCm39)	T317N	possibly damaging	Het
Lrrc15	C	T	16: 30,091,780 (GRCm39)	E520K	probably benign	Het
Lrrc34	C	T	3: 30,699,465 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,983,745 (GRCm39)	T163A	probably benign	Het
Met	T	A	6: 17,491,286 (GRCm39)	L16*	probably null	Het
Mpzl2	G	T	9: 44,958,587 (GRCm39)	D108Y	probably benign	Het
Mrgprb2	T	A	7: 48,202,585 (GRCm39)	I47F	probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mybphl	T	A	3: 108,282,154 (GRCm39)	V128E	probably damaging	Het
Nckap5	A	T	1: 126,030,398 (GRCm39)	D231E	probably damaging	Het
Or5g23	T	A	2: 85,438,673 (GRCm39)	M194L	probably benign	Het
Orm1	T	A	4: 63,263,448 (GRCm39)	I87K	probably benign	Het
Pdgfrb	C	T	18: 61,214,076 (GRCm39)	P954S	probably benign	Het
Pdzd8	G	T	19: 59,333,784 (GRCm39)	S79*	probably null	Het
Pdzd9	T	A	7: 120,262,225 (GRCm39)	H79L	probably benign	Het
Plcg1	A	T	2: 160,600,017 (GRCm39)	I926F	probably damaging	Het
Plec	A	T	15: 76,057,741 (GRCm39)	F4078L	probably damaging	Het
Plek	G	A	11: 17,002,220 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,761,335 (GRCm39)	I25T	probably damaging	Het
Ppfia3	A	T	7: 45,008,224 (GRCm39)	D215E	probably benign	Het
Psg22	C	A	7: 18,458,366 (GRCm39)	S352R	probably benign	Het
Ptchd4	A	G	17: 42,813,626 (GRCm39)	Y509C	probably damaging	Het
Ralgapb	C	A	2: 158,290,257 (GRCm39)	N389K	probably benign	Het
Rdh1	A	G	10: 127,598,906 (GRCm39)	D129G	probably benign	Het
Rimbp3	A	G	16: 17,027,610 (GRCm39)	T345A	probably benign	Het
S100a14	T	C	3: 90,434,602 (GRCm39)		probably null	Het
Scamp1	T	A	13: 94,361,423 (GRCm39)	R152S	probably damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Srf	T	C	17: 46,861,830 (GRCm39)	T383A	probably benign	Het
St6galnac5	T	C	3: 152,552,040 (GRCm39)	M176V	probably damaging	Het
St8sia1	C	A	6: 142,813,632 (GRCm39)	V177F	probably damaging	Het
Syt12	C	T	19: 4,510,895 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,813,934 (GRCm39)	I1793V	probably benign	Het
Tas2r123	A	G	6: 132,824,513 (GRCm39)	I137V	probably benign	Het
Tenm2	T	A	11: 36,062,236 (GRCm39)	Y543F	probably damaging	Het
Tent5b	T	C	4: 133,213,545 (GRCm39)	S139P	possibly damaging	Het
Tgfbr1	T	C	4: 47,410,728 (GRCm39)	I488T	probably damaging	Het
Tgm1	T	A	14: 55,942,398 (GRCm39)	Y651F	possibly damaging	Het
Thbs3	A	T	3: 89,131,722 (GRCm39)	D698V	probably damaging	Het
Tpra1	T	A	6: 88,885,294 (GRCm39)	I82N	probably damaging	Het
Ubr4	T	A	4: 139,120,401 (GRCm39)	D275E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wwp1	T	C	4: 19,623,124 (GRCm39)	Y787C	probably damaging	Het
Znfx1	T	C	2: 166,890,454 (GRCm39)	S677G	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
R4909:Cacna1s	UTSW	1	136,007,342 (GRCm39)	missense	probably damaging	0.99
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
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'- TCCTAGCAGTCGGAGTCTTG -3'
(R):5'- CCAGAGGCTAGCAACAGGTTATC -3'

Sequencing Primer
(F):5'- CAGTCGGAGTCTTGAATTCCCAG -3'
(R):5'- GGTTATCACCTAGCAAATAGAATACC -3'

Posted On

2019-05-13