Mutagenetix > Incidental Mutation

Incidental Mutation 'R8461:Cacna1s'

655252

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

067837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135980549-136047268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136001440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 297 (V297A)

Ref Sequence

ENSEMBL: ENSMUSP00000107699 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112064
AA Change: V297A

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: V297A

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: V297A

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: V297A

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

possibly damaging
Transcript: ENSMUST00000160641
AA Change: V297A

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: V297A

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 benign
Transcript: ENSMUST00000161865
AA Change: V50A

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: V50A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
4921539E11Rik	T	C	4: 103,112,712 (GRCm39)	D132G	probably benign	Het
Abca16	T	C	7: 120,035,918 (GRCm39)	F334L	possibly damaging	Het
Ache	T	C	5: 137,288,582 (GRCm39)	F96S	probably damaging	Het
Actg1	T	C	11: 120,239,010 (GRCm39)	T27A	unknown	Het
Ankrd27	T	C	7: 35,326,911 (GRCm39)	L752P	probably damaging	Het
Atp1a1	T	A	3: 101,496,405 (GRCm39)	T417S	probably benign	Het
Atp6v0a1	T	G	11: 100,935,400 (GRCm39)	L653R	possibly damaging	Het
Aurkb	T	C	11: 68,941,727 (GRCm39)	V293A	probably damaging	Het
C2cd5	A	T	6: 142,980,802 (GRCm39)	D654E	probably damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccdc187	A	G	2: 26,183,814 (GRCm39)	L62P	probably damaging	Het
Cdh2	A	G	18: 16,783,522 (GRCm39)	V69A	probably benign	Het
D430041D05Rik	A	G	2: 103,998,280 (GRCm39)	V1156A	possibly damaging	Het
Defb37	G	A	8: 19,036,386 (GRCm39)	H45Y	unknown	Het
Dgke	T	C	11: 88,939,819 (GRCm39)	M367V	possibly damaging	Het
Dnah1	T	C	14: 31,027,915 (GRCm39)	K640R	probably benign	Het
Gm5478	A	T	15: 101,554,652 (GRCm39)	L148Q	probably damaging	Het
Hhla1	A	T	15: 65,795,723 (GRCm39)	S494R	probably benign	Het
Kcne4	G	A	1: 78,795,433 (GRCm39)	S27N	probably benign	Het
Klhdc7b	A	T	15: 89,271,824 (GRCm39)	H244L	probably damaging	Het
Lrrc40	T	C	3: 157,764,371 (GRCm39)	S429P	possibly damaging	Het
Map3k21	A	T	8: 126,671,361 (GRCm39)	D883V	probably benign	Het
Med4	T	C	14: 73,755,468 (GRCm39)	S259P	unknown	Het
Mrm3	T	C	11: 76,135,158 (GRCm39)	I123T	probably damaging	Het
Mrpl1	T	A	5: 96,361,646 (GRCm39)	V11D	probably damaging	Het
Myl1	G	A	1: 66,983,994 (GRCm39)	P24L	unknown	Het
Necap2	T	C	4: 140,797,531 (GRCm39)	K168R	probably damaging	Het
Nnt	A	G	13: 119,505,038 (GRCm39)	S559P	unknown	Het
Nox4	T	C	7: 86,966,479 (GRCm39)	F197L	probably damaging	Het
Nup93	T	C	8: 95,007,963 (GRCm39)		probably null	Het
Nxph2	T	C	2: 23,211,529 (GRCm39)	V10A	unknown	Het
Or1e16	T	A	11: 73,285,982 (GRCm39)	I289F	probably damaging	Het
Or8c11	T	A	9: 38,289,777 (GRCm39)	V194D	probably damaging	Het
Or8k38	G	A	2: 86,487,890 (GRCm39)	T304I	probably benign	Het
P2ry2	G	T	7: 100,647,895 (GRCm39)	R137S	possibly damaging	Het
Plxnb3	T	C	X: 72,803,103 (GRCm39)	Y324H	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Ppme1	T	C	7: 100,021,012 (GRCm39)	S7G	probably benign	Het
Rabep1	T	A	11: 70,775,681 (GRCm39)	M85K	possibly damaging	Het
Ranbp2	T	C	10: 58,312,216 (GRCm39)	Y979H	probably damaging	Het
Rapgef5	T	C	12: 117,677,844 (GRCm39)	S360P	probably benign	Het
Rbm33	T	A	5: 28,592,970 (GRCm39)	H623Q	probably damaging	Het
Rev1	G	T	1: 38,122,868 (GRCm39)	T450K	possibly damaging	Het
Sec23ip	T	A	7: 128,373,926 (GRCm39)	L716Q	probably benign	Het
Sp2	T	C	11: 96,846,739 (GRCm39)	T535A	possibly damaging	Het
Syne1	A	G	10: 5,011,463 (GRCm39)	S61P	probably benign	Het
Tcf4	T	C	18: 69,598,501 (GRCm39)	V72A	probably benign	Het
Tmem131	G	A	1: 36,833,902 (GRCm39)	S1726F	probably damaging	Het
Trim13	T	C	14: 61,842,921 (GRCm39)	Y313H	probably benign	Het
Ttn	A	G	2: 76,611,437 (GRCm39)	V17365A	possibly damaging	Het
Uap1l1	G	A	2: 25,255,422 (GRCm39)	A69V	probably benign	Het
Upp2	A	G	2: 58,670,068 (GRCm39)	D258G	probably benign	Het
Vmn1r44	A	T	6: 89,870,701 (GRCm39)	H149L	possibly damaging	Het
Zbtb49	T	C	5: 38,358,453 (GRCm39)	D600G	probably benign	Het
Zfp869	G	T	8: 70,160,305 (GRCm39)	H89Q	probably benign	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
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
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'- CCATCACCCTGTGCTAGAAC -3'
(R):5'- ACCCATGGAGCTCCTAGTAC -3'

Sequencing Primer
(F):5'- CCTGTGCTAGAACTGGCTCTG -3'
(R):5'- ATGGAGCTCCTAGTACCCATC -3'

Posted On

2020-10-20