Mutagenetix > Incidental Mutation

Incidental Mutation 'R2568:Cacna1d'

254655

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

040427-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R2568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30039939-30491455 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30082511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1335 (I1335T)

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: I1300T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107868
Gene: ENSMUSG00000015968
AA Change: I1300T

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: I1322T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968
AA Change: I1322T

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

possibly damaging
Transcript: ENSMUST00000223803
AA Change: I1300T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224198
AA Change: I1335T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000224395

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224785
AA Change: I1300T

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000224912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225717

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,201,269 (GRCm38)	V1010A	possibly damaging	Het
4930563D23Rik	A	G	16: 92,321,319 (GRCm38)	L27P	probably damaging	Het
A730071L15Rik	A	T	11: 6,200,161 (GRCm38)		probably benign	Het
Abca13	A	T	11: 9,333,310 (GRCm38)	N3244I	probably benign	Het
Adgrf5	A	G	17: 43,437,671 (GRCm38)	T219A	probably damaging	Het
Adgrg5	A	T	8: 94,934,021 (GRCm38)	N92I	probably damaging	Het
Agt	A	C	8: 124,556,955 (GRCm38)	V475G	probably damaging	Het
Akap6	A	G	12: 52,887,278 (GRCm38)	K518E	possibly damaging	Het
Apoh	T	G	11: 108,404,871 (GRCm38)	D133E	probably benign	Het
Axdnd1	T	A	1: 156,392,749 (GRCm38)	M234L	possibly damaging	Het
Cdh15	G	A	8: 122,862,024 (GRCm38)	R279Q	probably damaging	Het
Cfap206	T	A	4: 34,711,566 (GRCm38)	K444*	probably null	Het
Clasp2	A	G	9: 113,878,764 (GRCm38)	I614M	probably benign	Het
Col6a4	A	T	9: 106,063,076 (GRCm38)	D1218E	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236 (GRCm38)		probably null	Het
D130043K22Rik	C	T	13: 24,883,891 (GRCm38)	T870M	probably damaging	Het
Dagla	C	A	19: 10,248,152 (GRCm38)	A883S	probably benign	Het
Dhx30	A	G	9: 110,097,195 (GRCm38)	V87A	probably damaging	Het
Dtx1	C	A	5: 120,710,184 (GRCm38)	V44L	possibly damaging	Het
Ecm2	T	A	13: 49,530,129 (GRCm38)	S528T	possibly damaging	Het
Egfem1	A	T	3: 29,582,931 (GRCm38)	N172I	probably damaging	Het
Fam102b	T	A	3: 108,978,848 (GRCm38)	N356I	probably benign	Het
Fam13a	T	G	6: 58,935,609 (GRCm38)	R686S	probably damaging	Het
Fmo1	T	A	1: 162,836,259 (GRCm38)	I234L	probably benign	Het
Foxj2	C	T	6: 122,828,372 (GRCm38)	R68W	probably damaging	Het
Foxo6	A	T	4: 120,268,764 (GRCm38)	M278K	probably benign	Het
Fsip2	A	G	2: 82,990,431 (GRCm38)	S5503G	probably benign	Het
Gdf5	C	G	2: 155,942,090 (GRCm38)	R100G	probably benign	Het
Il1b	A	T	2: 129,367,322 (GRCm38)	D129E	probably damaging	Het
Klhl29	A	G	12: 5,091,350 (GRCm38)	S545P	probably damaging	Het
Krt83	G	T	15: 101,487,827 (GRCm38)	R296S	possibly damaging	Het
Llgl1	T	G	11: 60,708,812 (GRCm38)	S509R	probably damaging	Het
Lmod1	A	T	1: 135,363,964 (GRCm38)	K186*	probably null	Het
Lrpprc	C	T	17: 84,726,649 (GRCm38)	A973T	probably damaging	Het
Marco	T	C	1: 120,494,785 (GRCm38)	H49R	possibly damaging	Het
Mylk4	T	C	13: 32,722,018 (GRCm38)	N394S	probably null	Het
Myo5a	A	G	9: 75,123,040 (GRCm38)	Y147C	probably damaging	Het
Myo5a	T	C	9: 75,151,897 (GRCm38)	V469A	probably damaging	Het
Myot	A	G	18: 44,337,216 (GRCm38)	T87A	probably benign	Het
Nav2	A	G	7: 49,597,564 (GRCm38)	H2154R	probably damaging	Het
Nek10	A	G	14: 14,999,112 (GRCm38)	E1037G	possibly damaging	Het
Olfr181	A	G	16: 58,925,923 (GRCm38)	V216A	probably benign	Het
Olfr341	T	C	2: 36,479,974 (GRCm38)	D52G	probably damaging	Het
Olfr677	A	G	7: 105,056,671 (GRCm38)	T142A	probably benign	Het
Pitrm1	G	T	13: 6,575,092 (GRCm38)	V869F	probably benign	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781 (GRCm38)		probably benign	Het
Prdx1	T	G	4: 116,693,800 (GRCm38)	I156S	probably benign	Het
Rbks	T	A	5: 31,665,752 (GRCm38)	T107S	probably damaging	Het
Ryr3	G	A	2: 112,675,874 (GRCm38)	R3468W	probably damaging	Het
Scn1a	C	T	2: 66,273,469 (GRCm38)	D1805N	probably damaging	Het
Sirpa	T	C	2: 129,615,648 (GRCm38)	V214A	probably benign	Het
Slc35c1	T	C	2: 92,458,880 (GRCm38)	N94D	probably benign	Het
Sorbs2	A	T	8: 45,795,370 (GRCm38)	K553*	probably null	Het
Tectb	C	G	19: 55,180,999 (GRCm38)		probably benign	Het
Thg1l	A	G	11: 45,951,565 (GRCm38)	V142A	probably benign	Het
Tiparp	T	A	3: 65,553,130 (GRCm38)	Y513*	probably null	Het
Tmc6	A	G	11: 117,772,820 (GRCm38)	V522A	probably benign	Het
Trim39	T	A	17: 36,269,164 (GRCm38)		probably benign	Het
Trrap	G	A	5: 144,843,369 (GRCm38)		probably null	Het
Tulp3	C	T	6: 128,327,638 (GRCm38)	V218I	probably benign	Het
Vmn1r38	T	A	6: 66,776,971 (GRCm38)	I54F	probably benign	Het
Vmn2r23	T	A	6: 123,742,188 (GRCm38)	Y833*	probably null	Het
Zfp810	A	T	9: 22,279,238 (GRCm38)	S125T	probably benign	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
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
R5387:Cacna1d	UTSW	14	30,100,751 (GRCm38)	missense	probably damaging	1.00
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'- ATAATCTCTGCTGACTCAGTGGTC -3'
(R):5'- CTGAGCCCCTGTGTTGTTAG -3'

Sequencing Primer
(F):5'- TGACTCAGTGGTCAGACAGAG -3'
(R):5'- CCCCTGTGTTGTTAGCATGTG -3'

Posted On

2014-12-04