Mutagenetix > Incidental Mutation

Incidental Mutation 'R8897:Cacna1s'

678071

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135980549-136047268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 136045392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1680 (T1680S)

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

probably benign
Transcript: ENSMUST00000112064
AA Change: T1699S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107695
Gene: ENSMUSG00000026407
AA Change: T1699S

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 benign
Transcript: ENSMUST00000112068
AA Change: T1680S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000107699
Gene: ENSMUSG00000026407
AA Change: T1680S

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 benign
Transcript: ENSMUST00000160641
AA Change: T1699S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000125278
Gene: ENSMUSG00000026407
AA Change: T1699S

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: T1433S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125262
Gene: ENSMUSG00000026407
AA Change: T1433S

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: 99.7%
20x: 98.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,934 (GRCm39)	L329Q	probably damaging	Het
Adam26b	A	T	8: 43,974,009 (GRCm39)	M331K	possibly damaging	Het
Ak3	T	C	19: 29,025,118 (GRCm39)	S38G	probably damaging	Het
Ankrd10	A	T	8: 11,665,788 (GRCm39)	C271S	possibly damaging	Het
Ap1s3	A	G	1: 79,601,494 (GRCm39)	Y66H	probably damaging	Het
Ap4b1	A	T	3: 103,729,065 (GRCm39)	I736L	probably benign	Het
Arpp19	T	A	9: 74,963,948 (GRCm39)	M67K	possibly damaging	Het
Brf1	T	G	12: 112,951,589 (GRCm39)	H130P	probably damaging	Het
Cckar	C	T	5: 53,864,583 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,532 (GRCm39)	K605E	probably benign	Het
Cdcp3	T	C	7: 130,867,566 (GRCm39)	M1409T	unknown	Het
Ces1h	C	T	8: 94,080,093 (GRCm39)	V474I	unknown	Het
Cfap70	A	T	14: 20,493,669 (GRCm39)		probably null	Het
Ch25h	G	A	19: 34,452,441 (GRCm39)	T29I	possibly damaging	Het
Csmd3	T	A	15: 48,222,739 (GRCm39)	T329S	probably benign	Het
Cux1	T	C	5: 136,315,623 (GRCm39)	N1139S	probably damaging	Het
Cyp2j6	G	T	4: 96,414,087 (GRCm39)	H393N	probably benign	Het
Cyp8b1	C	A	9: 121,745,358 (GRCm39)		probably benign	Het
Dchs2	T	G	3: 83,036,720 (GRCm39)	L489R	probably damaging	Het
Dip2a	T	C	10: 76,110,098 (GRCm39)	T1173A	probably benign	Het
Exoc3l2	T	G	7: 19,203,931 (GRCm39)		probably null	Het
Fastkd3	G	A	13: 68,732,303 (GRCm39)	R208H	probably damaging	Het
Fbxo16	C	A	14: 65,531,287 (GRCm39)	R64S	probably benign	Het
Frem3	A	T	8: 81,339,419 (GRCm39)	I571F	probably damaging	Het
Ftsj3	T	A	11: 106,144,602 (GRCm39)	D129V	probably damaging	Het
Gm6370	A	G	5: 146,430,447 (GRCm39)	T211A	probably benign	Het
Gpr171	A	T	3: 59,005,116 (GRCm39)	S220T	probably benign	Het
Gsta3	T	C	1: 21,330,370 (GRCm39)	I124T	probably benign	Het
Hydin	A	G	8: 111,316,112 (GRCm39)	I4335V	probably benign	Het
Ift80	T	C	3: 68,857,809 (GRCm39)	I279V	probably benign	Het
Ighv1-13	T	A	12: 114,594,439 (GRCm39)	M47K	unknown	Het
Il22ra2	A	G	10: 19,507,401 (GRCm39)	N138S	probably damaging	Het
Impact	A	G	18: 13,123,551 (GRCm39)	D298G	probably benign	Het
Ipo7	T	C	7: 109,643,943 (GRCm39)		probably null	Het
Kif5b	T	C	18: 6,225,437 (GRCm39)	N198D	probably damaging	Het
Klhl36	A	G	8: 120,597,279 (GRCm39)	T327A	probably benign	Het
Lepr	A	G	4: 101,649,233 (GRCm39)	N878S	probably damaging	Het
Lpxn	T	A	19: 12,802,525 (GRCm39)	F244L	probably damaging	Het
Lrriq4	C	A	3: 30,709,807 (GRCm39)	L384I	probably damaging	Het
Ltbp4	A	C	7: 27,026,119 (GRCm39)	I629S	probably benign	Het
Lypd5	T	C	7: 24,051,015 (GRCm39)	V42A	probably benign	Het
Mc4r	A	G	18: 66,992,304 (GRCm39)	S270P	probably damaging	Het
Mctp2	T	G	7: 71,909,311 (GRCm39)	M1L	probably benign	Het
Myh4	G	A	11: 67,137,362 (GRCm39)	E528K	possibly damaging	Het
Nes	T	A	3: 87,886,653 (GRCm39)	H1637Q	possibly damaging	Het
Or4f7	T	C	2: 111,644,576 (GRCm39)	D165G	probably benign	Het
Or5g25	A	T	2: 85,478,187 (GRCm39)	H159Q	possibly damaging	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Pan3	T	C	5: 147,387,472 (GRCm39)	M147T	probably benign	Het
Pcdhga6	G	T	18: 37,841,642 (GRCm39)	R454L	probably benign	Het
Pdss2	A	G	10: 43,221,663 (GRCm39)	S192G	probably damaging	Het
Pld6	A	T	11: 59,678,382 (GRCm39)	M27K	probably benign	Het
Plec	C	T	15: 76,057,598 (GRCm39)	R4113H	probably damaging	Het
Ptprk	T	C	10: 28,467,953 (GRCm39)	S1379P	probably damaging	Het
Rapgef2	T	C	3: 79,019,566 (GRCm39)	H35R	probably damaging	Het
Rasgrp2	A	G	19: 6,453,100 (GRCm39)	T75A	probably benign	Het
Rexo1	A	G	10: 80,378,437 (GRCm39)	L1172P	probably damaging	Het
Rfx7	C	T	9: 72,525,123 (GRCm39)	S771L	probably benign	Het
Rpap3	A	G	15: 97,585,998 (GRCm39)	I331T	probably benign	Het
Scn2a	A	G	2: 65,546,002 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,354,467 (GRCm39)	V241D	probably benign	Het
Sez6l	C	A	5: 112,588,744 (GRCm39)	Q656H	possibly damaging	Het
Sh3gl2	A	T	4: 85,273,597 (GRCm39)	I50L	probably benign	Het
Tab2	T	C	10: 7,786,897 (GRCm39)	D605G	probably damaging	Het
Tas2r110	T	A	6: 132,845,374 (GRCm39)	V135D	probably damaging	Het
Thap12	T	C	7: 98,364,534 (GRCm39)	M234T	probably benign	Het
Trhr	C	A	15: 44,060,736 (GRCm39)	D85E	probably benign	Het
Trim67	A	G	8: 125,552,718 (GRCm39)	I607V	probably benign	Het
Trpm4	C	T	7: 44,960,055 (GRCm39)	C760Y	probably benign	Het
Ttll9	T	C	2: 152,844,841 (GRCm39)	V403A	probably damaging	Het
Uhrf1	T	C	17: 56,617,817 (GRCm39)	Y180H	probably damaging	Het
Unc119b	C	T	5: 115,272,977 (GRCm39)		probably benign	Het
Vmn2r44	T	A	7: 8,381,242 (GRCm39)	D217V	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zscan4-ps3	A	T	7: 11,346,767 (GRCm39)	R268*	probably null	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
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
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'- TTTGGCTTGCTCCCTCAGAG -3'
(R):5'- TAGCGTGAACAAGCCTTCC -3'

Sequencing Primer
(F):5'- TTGCTCCCTCAGAGGCAAG -3'
(R):5'- CGTTCAGCTTCCCATTTGGAG -3'

Posted On

2021-08-02