Mutagenetix > Incidental Mutation

Incidental Mutation 'R5387:Cacna1d'

425363

Institutional Source

Beutler Lab

Gene Symbol

Cacna1d

Ensembl Gene

ENSMUSG00000015968

Gene Name

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

Synonyms

C79217, Cchl1a2, Cav1.3alpha1, Cchl1a, Cacnl1a2, D-LTCC, 8430418G19Rik

MMRRC Submission

042959-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R5387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30039939-30491455 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30100751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1107 (V1107A)

Ref Sequence

ENSEMBL: ENSMUSP00000153250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112249] [ENSMUST00000112250] [ENSMUST00000223803] [ENSMUST00000224198] [ENSMUST00000224395] [ENSMUST00000224785]

AlphaFold

Q99246

Predicted Effect

probably damaging
Transcript: ENSMUST00000112249
AA Change: V1087A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107868
Gene: ENSMUSG00000015968
AA Change: V1087A

Domain	Start	End	E-Value	Type
low complexity region	1	10	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC
Pfam:Ion_trans	163	405	4.8e-59	PFAM
PDB:4DEY\|B	406	502	3e-38	PDB
low complexity region	503	517	N/A	INTRINSIC
Pfam:Ion_trans	557	751	5.5e-46	PFAM
low complexity region	766	781	N/A	INTRINSIC
low complexity region	819	840	N/A	INTRINSIC
Pfam:Ion_trans	921	1151	7.2e-51	PFAM
Pfam:Ion_trans	1239	1448	3.6e-67	PFAM
Pfam:PKD_channel	1285	1455	1.9e-9	PFAM
Blast:EFh	1469	1497	2e-9	BLAST
Ca_chan_IQ	1583	1617	5.05e-16	SMART
low complexity region	1649	1661	N/A	INTRINSIC
low complexity region	1722	1728	N/A	INTRINSIC
low complexity region	1830	1840	N/A	INTRINSIC
low complexity region	1885	1905	N/A	INTRINSIC
low complexity region	1921	1936	N/A	INTRINSIC
low complexity region	2122	2133	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112250
AA Change: V1109A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968
AA Change: V1109A

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
Pfam:Ion_trans	147	439	5.6e-72	PFAM
low complexity region	473	482	N/A	INTRINSIC
low complexity region	525	539	N/A	INTRINSIC
Pfam:Ion_trans	544	784	2e-56	PFAM
low complexity region	788	803	N/A	INTRINSIC
low complexity region	841	862	N/A	INTRINSIC
Pfam:Ion_trans	907	1185	2.6e-63	PFAM
Pfam:Ion_trans	1226	1482	1.7e-70	PFAM
Pfam:PKD_channel	1306	1477	1.2e-9	PFAM
Pfam:GPHH	1484	1553	2.3e-38	PFAM
Ca_chan_IQ	1605	1639	5.05e-16	SMART
Pfam:CAC1F_C	1649	2165	1.1e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223803
AA Change: V1087A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224198
AA Change: V1107A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224395

Predicted Effect

probably damaging
Transcript: ENSMUST00000224785
AA Change: V1087A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000224912
AA Change: V4A

Meta Mutation Damage Score

0.9363

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: This gene encodes a pore-forming subunit of the L-type, voltage-activated calcium channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart defects. These channels have also been linked to mitochondrial oxidative stress in a mouse model of Parkinson's disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,974 (GRCm38)	D32E	probably benign	Het
2210408I21Rik	T	A	13: 77,259,973 (GRCm38)	S140T	probably benign	Het
Ahnak	T	C	19: 9,003,691 (GRCm38)	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,634,644 (GRCm38)	H1205N	probably damaging	Het
Ano1	T	C	7: 144,648,619 (GRCm38)	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573 (GRCm38)	C114W	probably damaging	Het
Ascl1	C	T	10: 87,492,689 (GRCm38)	A134T	probably damaging	Het
Atl2	C	T	17: 79,852,800 (GRCm38)	E453K	probably benign	Het
Aup1	C	T	6: 83,055,024 (GRCm38)	A84V	probably damaging	Het
Btbd7	A	T	12: 102,837,785 (GRCm38)	M332K	probably damaging	Het
Cd33	G	A	7: 43,532,053 (GRCm38)	Q114*	probably null	Het
Col4a4	C	T	1: 82,493,591 (GRCm38)	G681E	unknown	Het
Defb22	C	A	2: 152,485,906 (GRCm38)	A120S	unknown	Het
Dnah7b	A	G	1: 46,188,659 (GRCm38)	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,134,842 (GRCm38)	I549T	possibly damaging	Het
Esp15	T	A	17: 39,644,577 (GRCm38)		probably null	Het
Fbxo7	A	G	10: 86,024,654 (GRCm38)	T42A	probably benign	Het
Filip1	A	G	9: 79,818,274 (GRCm38)	I1021T	probably benign	Het
Gad1	C	A	2: 70,563,851 (GRCm38)	S7*	probably null	Het
Gm281	C	A	14: 13,914,438 (GRCm38)	M1I	probably null	Het
H2-Q7	C	T	17: 35,439,542 (GRCm38)	T52M	probably damaging	Het
H2-T3	C	T	17: 36,186,702 (GRCm38)	G28R	probably benign	Het
Hist1h2ad	T	A	13: 23,574,667 (GRCm38)		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Ift81	A	G	5: 122,555,535 (GRCm38)	Y604H	probably damaging	Het
Igsf11	A	G	16: 39,022,423 (GRCm38)	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,914,876 (GRCm38)	A846S	probably benign	Het
Lnx2	G	A	5: 147,028,154 (GRCm38)	P420S	probably benign	Het
Lrit2	A	G	14: 37,072,259 (GRCm38)	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,499,671 (GRCm38)		probably null	Het
Mug1	T	C	6: 121,884,394 (GRCm38)	Y1325H	probably damaging	Het
Naglu	A	T	11: 101,076,724 (GRCm38)	Y500F	probably damaging	Het
Npy4r	A	G	14: 34,146,983 (GRCm38)	M116T	probably benign	Het
Nrd1	A	G	4: 109,039,762 (GRCm38)	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,762,813 (GRCm38)	S472P	probably benign	Het
Olfr102	T	A	17: 37,314,292 (GRCm38)	T31S	probably benign	Het
Olfr361	T	C	2: 37,085,719 (GRCm38)	T10A	possibly damaging	Het
Otogl	T	A	10: 107,780,933 (GRCm38)	T1828S	probably benign	Het
Pank2	C	T	2: 131,274,262 (GRCm38)	T200I	probably benign	Het
Pbrm1	A	G	14: 31,082,610 (GRCm38)	Y946C	probably damaging	Het
Pde12	A	T	14: 26,666,453 (GRCm38)	S437T	probably benign	Het
Pikfyve	A	G	1: 65,265,268 (GRCm38)	K1710E	possibly damaging	Het
Plcd3	A	G	11: 103,078,455 (GRCm38)	S229P	probably damaging	Het
Polr3a	T	C	14: 24,454,941 (GRCm38)	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 105,040,177 (GRCm38)	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873 (GRCm38)	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,485,434 (GRCm38)	S620P	probably damaging	Het
Rab33b	A	G	3: 51,493,455 (GRCm38)	T117A	probably damaging	Het
Rasal2	T	C	1: 157,157,765 (GRCm38)	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,956,413 (GRCm38)	T773A	possibly damaging	Het
Rrnad1	A	T	3: 87,930,011 (GRCm38)		probably benign	Het
Rspry1	A	G	8: 94,638,286 (GRCm38)	T185A	possibly damaging	Het
Sec61a2	G	T	2: 5,882,545 (GRCm38)		probably benign	Het
Setx	C	T	2: 29,147,594 (GRCm38)	R1364C	probably benign	Het
Shtn1	G	T	19: 59,038,369 (GRCm38)	L97M	probably damaging	Het
Slc35f1	T	C	10: 53,108,164 (GRCm38)	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,643,909 (GRCm38)		probably benign	Het
Slmap	T	C	14: 26,459,933 (GRCm38)	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096 (GRCm38)	A924V	probably benign	Het
Sp110	C	G	1: 85,589,118 (GRCm38)	E219D	probably damaging	Het
Tecta	G	A	9: 42,375,063 (GRCm38)	L766F	probably damaging	Het
Tle3	C	T	9: 61,407,489 (GRCm38)		probably null	Het
Top3a	A	G	11: 60,762,490 (GRCm38)	F53L	probably damaging	Het
Trem1	T	C	17: 48,241,513 (GRCm38)	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,446,963 (GRCm38)	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 90,006,596 (GRCm38)	Y975C	probably benign	Het
Ubxn11	C	A	4: 134,123,426 (GRCm38)	D196E	probably damaging	Het
Unc80	A	G	1: 66,530,021 (GRCm38)	H945R	possibly damaging	Het
Usp15	A	G	10: 123,131,286 (GRCm38)	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339 (GRCm38)	E138K	probably damaging	Het
Wapl	A	G	14: 34,677,295 (GRCm38)	E107G	probably benign	Het
Wbp1l	T	C	19: 46,644,457 (GRCm38)		probably null	Het
Zfp184	T	G	13: 21,949,640 (GRCm38)		probably benign	Het
Zfp36	A	C	7: 28,377,868 (GRCm38)	L205R	possibly damaging	Het

Other mutations in Cacna1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Cacna1d	APN	14	30,096,950 (GRCm38)	missense	probably damaging	0.97
IGL00857:Cacna1d	APN	14	30,350,681 (GRCm38)	missense	possibly damaging	0.83
IGL01015:Cacna1d	APN	14	30,051,742 (GRCm38)	splice site	probably benign
IGL01420:Cacna1d	APN	14	30,051,638 (GRCm38)	missense	probably benign	0.01
IGL01470:Cacna1d	APN	14	30,099,142 (GRCm38)	missense	probably damaging	0.99
IGL01560:Cacna1d	APN	14	30,099,206 (GRCm38)	missense	probably benign	0.00
IGL01617:Cacna1d	APN	14	30,102,371 (GRCm38)	missense	probably damaging	1.00
IGL01820:Cacna1d	APN	14	30,042,866 (GRCm38)	missense	possibly damaging	0.79
IGL01948:Cacna1d	APN	14	30,124,794 (GRCm38)	missense	probably damaging	1.00
IGL02702:Cacna1d	APN	14	30,123,533 (GRCm38)	nonsense	probably null
IGL02864:Cacna1d	APN	14	30,051,706 (GRCm38)	missense	probably benign	0.10
IGL03082:Cacna1d	APN	14	30,099,233 (GRCm38)	missense	probably damaging	1.00
Brisk	UTSW	14	30,171,314 (GRCm38)	missense	possibly damaging	0.91
Troppo	UTSW	14	30,123,454 (GRCm38)	missense	probably damaging	1.00
PIT4651001:Cacna1d	UTSW	14	30,178,645 (GRCm38)	missense	probably damaging	1.00
R0015:Cacna1d	UTSW	14	30,114,971 (GRCm38)	missense	probably benign	0.00
R0015:Cacna1d	UTSW	14	30,114,971 (GRCm38)	missense	probably benign	0.00
R0033:Cacna1d	UTSW	14	30,105,489 (GRCm38)	missense	probably damaging	0.99
R0047:Cacna1d	UTSW	14	30,346,790 (GRCm38)	splice site	probably benign
R0047:Cacna1d	UTSW	14	30,346,790 (GRCm38)	splice site	probably benign
R0051:Cacna1d	UTSW	14	30,111,095 (GRCm38)	missense	probably damaging	1.00
R0051:Cacna1d	UTSW	14	30,111,095 (GRCm38)	missense	probably damaging	1.00
R0067:Cacna1d	UTSW	14	30,075,010 (GRCm38)	unclassified	probably benign
R0067:Cacna1d	UTSW	14	30,075,010 (GRCm38)	unclassified	probably benign
R0238:Cacna1d	UTSW	14	30,123,496 (GRCm38)	missense	probably benign	0.29
R0238:Cacna1d	UTSW	14	30,123,496 (GRCm38)	missense	probably benign	0.29
R0239:Cacna1d	UTSW	14	30,123,496 (GRCm38)	missense	probably benign	0.29
R0239:Cacna1d	UTSW	14	30,123,496 (GRCm38)	missense	probably benign	0.29
R0240:Cacna1d	UTSW	14	30,096,969 (GRCm38)	missense	probably benign	0.00
R0240:Cacna1d	UTSW	14	30,096,969 (GRCm38)	missense	probably benign	0.00
R0284:Cacna1d	UTSW	14	30,072,105 (GRCm38)	missense	probably damaging	1.00
R0416:Cacna1d	UTSW	14	30,100,688 (GRCm38)	splice site	probably benign
R0427:Cacna1d	UTSW	14	30,346,817 (GRCm38)	missense	probably damaging	0.99
R0517:Cacna1d	UTSW	14	30,179,275 (GRCm38)	missense	probably damaging	1.00
R0639:Cacna1d	UTSW	14	30,171,294 (GRCm38)	critical splice donor site	probably null
R0727:Cacna1d	UTSW	14	30,130,115 (GRCm38)	critical splice donor site	probably null
R0732:Cacna1d	UTSW	14	30,042,920 (GRCm38)	missense	probably damaging	0.99
R0843:Cacna1d	UTSW	14	30,124,871 (GRCm38)	missense	probably damaging	1.00
R0900:Cacna1d	UTSW	14	30,111,082 (GRCm38)	missense	probably damaging	1.00
R1278:Cacna1d	UTSW	14	30,178,703 (GRCm38)	missense	probably damaging	1.00
R1340:Cacna1d	UTSW	14	30,072,067 (GRCm38)	missense	probably damaging	0.96
R1527:Cacna1d	UTSW	14	30,107,796 (GRCm38)	missense	probably damaging	1.00
R1711:Cacna1d	UTSW	14	30,066,056 (GRCm38)	missense	probably damaging	1.00
R1736:Cacna1d	UTSW	14	30,089,863 (GRCm38)	missense	probably damaging	1.00
R1763:Cacna1d	UTSW	14	30,099,196 (GRCm38)	missense	probably benign	0.25
R2034:Cacna1d	UTSW	14	30,089,863 (GRCm38)	missense	probably damaging	1.00
R2086:Cacna1d	UTSW	14	30,047,357 (GRCm38)	missense	possibly damaging	0.83
R2126:Cacna1d	UTSW	14	30,123,163 (GRCm38)	missense	probably damaging	1.00
R2218:Cacna1d	UTSW	14	30,123,091 (GRCm38)	missense	probably damaging	1.00
R2219:Cacna1d	UTSW	14	30,042,090 (GRCm38)	missense	probably damaging	1.00
R2262:Cacna1d	UTSW	14	30,491,016 (GRCm38)	missense	possibly damaging	0.46
R2291:Cacna1d	UTSW	14	30,042,342 (GRCm38)	missense	probably damaging	1.00
R2399:Cacna1d	UTSW	14	30,052,487 (GRCm38)	missense	probably benign	0.34
R2424:Cacna1d	UTSW	14	30,049,023 (GRCm38)	missense	probably damaging	0.96
R2568:Cacna1d	UTSW	14	30,082,511 (GRCm38)	missense	probably damaging	0.99
R4038:Cacna1d	UTSW	14	30,066,083 (GRCm38)	missense	probably damaging	0.96
R4509:Cacna1d	UTSW	14	30,096,971 (GRCm38)	missense	probably damaging	1.00
R4649:Cacna1d	UTSW	14	30,095,408 (GRCm38)	missense	probably benign
R4650:Cacna1d	UTSW	14	30,095,408 (GRCm38)	missense	probably benign
R4652:Cacna1d	UTSW	14	30,095,408 (GRCm38)	missense	probably benign
R5009:Cacna1d	UTSW	14	30,079,332 (GRCm38)	missense	probably damaging	1.00
R5058:Cacna1d	UTSW	14	30,114,244 (GRCm38)	nonsense	probably null
R5063:Cacna1d	UTSW	14	30,051,383 (GRCm38)	missense	probably benign
R5138:Cacna1d	UTSW	14	30,490,972 (GRCm38)	missense	probably benign
R5151:Cacna1d	UTSW	14	30,123,323 (GRCm38)	missense	probably damaging	1.00
R5278:Cacna1d	UTSW	14	30,352,924 (GRCm38)	critical splice donor site	probably null
R5286:Cacna1d	UTSW	14	30,350,725 (GRCm38)	missense	possibly damaging	0.69
R5313:Cacna1d	UTSW	14	30,346,841 (GRCm38)	missense	probably benign	0.38
R5383:Cacna1d	UTSW	14	30,045,279 (GRCm38)	missense	possibly damaging	0.51
R5514:Cacna1d	UTSW	14	30,350,833 (GRCm38)	nonsense	probably null
R5524:Cacna1d	UTSW	14	30,042,129 (GRCm38)	missense	probably benign	0.01
R5663:Cacna1d	UTSW	14	30,123,340 (GRCm38)	missense	probably damaging	1.00
R5712:Cacna1d	UTSW	14	30,074,997 (GRCm38)	missense	probably damaging	1.00
R5796:Cacna1d	UTSW	14	30,066,116 (GRCm38)	missense	probably damaging	1.00
R5906:Cacna1d	UTSW	14	30,096,960 (GRCm38)	missense	probably damaging	1.00
R5923:Cacna1d	UTSW	14	30,111,148 (GRCm38)	missense	probably damaging	1.00
R5936:Cacna1d	UTSW	14	30,171,314 (GRCm38)	missense	possibly damaging	0.91
R5938:Cacna1d	UTSW	14	30,103,735 (GRCm38)	missense	probably damaging	1.00
R6041:Cacna1d	UTSW	14	30,042,357 (GRCm38)	missense	probably damaging	1.00
R6432:Cacna1d	UTSW	14	30,123,454 (GRCm38)	missense	probably damaging	1.00
R6486:Cacna1d	UTSW	14	30,114,233 (GRCm38)	missense	probably benign	0.01
R6600:Cacna1d	UTSW	14	30,114,235 (GRCm38)	missense	probably benign	0.15
R6661:Cacna1d	UTSW	14	30,089,875 (GRCm38)	missense	probably damaging	1.00
R6753:Cacna1d	UTSW	14	30,042,786 (GRCm38)	missense	probably damaging	1.00
R6804:Cacna1d	UTSW	14	30,051,665 (GRCm38)	missense	probably benign	0.00
R6851:Cacna1d	UTSW	14	30,042,782 (GRCm38)	missense	probably damaging	1.00
R6863:Cacna1d	UTSW	14	30,075,852 (GRCm38)	missense	probably damaging	1.00
R6916:Cacna1d	UTSW	14	30,095,364 (GRCm38)	missense	probably damaging	1.00
R6925:Cacna1d	UTSW	14	30,051,637 (GRCm38)	missense	probably benign
R7066:Cacna1d	UTSW	14	30,352,978 (GRCm38)	intron	probably benign
R7188:Cacna1d	UTSW	14	30,089,833 (GRCm38)	missense	probably benign
R7242:Cacna1d	UTSW	14	30,178,706 (GRCm38)	missense	probably benign	0.00
R7249:Cacna1d	UTSW	14	30,142,703 (GRCm38)	missense	probably damaging	1.00
R7250:Cacna1d	UTSW	14	30,075,151 (GRCm38)	missense	probably damaging	1.00
R7274:Cacna1d	UTSW	14	30,142,643 (GRCm38)	missense	probably damaging	1.00
R7336:Cacna1d	UTSW	14	30,045,282 (GRCm38)	missense	probably benign	0.18
R7343:Cacna1d	UTSW	14	30,123,057 (GRCm38)	missense	probably benign	0.02
R7411:Cacna1d	UTSW	14	30,352,990 (GRCm38)	start codon destroyed	probably null
R7461:Cacna1d	UTSW	14	30,066,163 (GRCm38)	missense	probably benign	0.05
R7534:Cacna1d	UTSW	14	30,079,362 (GRCm38)	missense	probably damaging	1.00
R7613:Cacna1d	UTSW	14	30,066,163 (GRCm38)	missense	probably benign	0.05
R7661:Cacna1d	UTSW	14	30,047,220 (GRCm38)	missense	probably benign	0.07
R7754:Cacna1d	UTSW	14	30,075,852 (GRCm38)	missense	probably damaging	1.00
R7759:Cacna1d	UTSW	14	30,099,188 (GRCm38)	missense	probably benign	0.01
R7784:Cacna1d	UTSW	14	30,123,439 (GRCm38)	missense	probably damaging	1.00
R7808:Cacna1d	UTSW	14	30,111,069 (GRCm38)	missense	probably damaging	1.00
R7965:Cacna1d	UTSW	14	30,047,313 (GRCm38)	nonsense	probably null
R8225:Cacna1d	UTSW	14	30,123,033 (GRCm38)	missense	probably benign	0.23
R8259:Cacna1d	UTSW	14	30,051,518 (GRCm38)	missense	probably benign
R8348:Cacna1d	UTSW	14	30,102,407 (GRCm38)	missense	probably damaging	1.00
R8448:Cacna1d	UTSW	14	30,102,407 (GRCm38)	missense	probably damaging	1.00
R8822:Cacna1d	UTSW	14	30,178,735 (GRCm38)	missense	probably benign	0.02
R8848:Cacna1d	UTSW	14	30,123,326 (GRCm38)	missense	possibly damaging	0.89
R9122:Cacna1d	UTSW	14	30,130,168 (GRCm38)	missense	probably benign	0.00
R9122:Cacna1d	UTSW	14	30,123,445 (GRCm38)	missense	probably damaging	1.00
R9169:Cacna1d	UTSW	14	30,074,916 (GRCm38)	missense	probably damaging	1.00
R9199:Cacna1d	UTSW	14	30,042,936 (GRCm38)	missense	probably benign	0.26
R9203:Cacna1d	UTSW	14	30,051,712 (GRCm38)	missense	probably benign	0.04
R9263:Cacna1d	UTSW	14	30,074,968 (GRCm38)	missense	probably damaging	1.00
R9346:Cacna1d	UTSW	14	30,096,923 (GRCm38)	missense	possibly damaging	0.86
R9444:Cacna1d	UTSW	14	30,107,784 (GRCm38)	critical splice donor site	probably null
R9487:Cacna1d	UTSW	14	30,123,462 (GRCm38)	missense	possibly damaging	0.90
R9542:Cacna1d	UTSW	14	30,123,359 (GRCm38)	missense	probably benign	0.00
R9651:Cacna1d	UTSW	14	30,042,924 (GRCm38)	missense	probably benign	0.00
R9785:Cacna1d	UTSW	14	30,102,343 (GRCm38)	critical splice donor site	probably null
Z1176:Cacna1d	UTSW	14	30,111,116 (GRCm38)	missense	probably benign	0.15
Z1176:Cacna1d	UTSW	14	30,179,188 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCCTGTTCAGATGGAGGAG -3'
(R):5'- CTACATGTAATGTTCTAGCGTGG -3'

Sequencing Primer
(F):5'- TGATGACAATTTGCCCAGCG -3'
(R):5'- AGCGTGGGACTAATACTGTCATGC -3'

Posted On

2016-08-04