Mutagenetix > Incidental Mutation

Incidental Mutation 'R7188:Cacna1d'

559449

Institutional Source

Beutler Lab

Gene Symbol

Cacna1d

Ensembl Gene

ENSMUSG00000015968

Gene Name

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

Synonyms

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

MMRRC Submission

045272-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R7188 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29761898-30213113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29811790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1309 (S1309G)

Ref Sequence

ENSEMBL: ENSMUSP00000107869 (fasta)

Gene Model

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

AlphaFold

Q99246

Predicted Effect

probably benign
Transcript: ENSMUST00000112249
AA Change: S1287G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000107868
Gene: ENSMUSG00000015968
AA Change: S1287G

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 benign
Transcript: ENSMUST00000112250
AA Change: S1309G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968
AA Change: S1309G

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: S1287G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000224198
AA Change: S1307G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000224395

Predicted Effect

probably benign
Transcript: ENSMUST00000224785
AA Change: S1287G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224912

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,554,600 (GRCm39)	Y118C	possibly damaging	Het
Abcb6	A	G	1: 75,150,781 (GRCm39)		probably null	Het
Acox2	T	A	14: 8,252,996 (GRCm38)	I236L	possibly damaging	Het
Adamts12	A	T	15: 11,336,411 (GRCm39)	K1499*	probably null	Het
Ankrd24	G	T	10: 81,472,224 (GRCm39)	E20*	probably null	Het
Arsa	A	T	15: 89,359,830 (GRCm39)	Y32*	probably null	Het
Atp9b	A	G	18: 80,961,041 (GRCm39)	S57P		Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bace1	A	G	9: 45,767,393 (GRCm39)	D192G	probably benign	Het
Bltp1	A	T	3: 37,004,162 (GRCm39)	T1624S	probably benign	Het
Bltp3b	T	C	10: 89,615,744 (GRCm39)	V129A	probably damaging	Het
Cd177	G	T	7: 24,456,072 (GRCm39)	T232K	probably damaging	Het
Chil4	T	A	3: 106,111,475 (GRCm39)	D213V	probably damaging	Het
Cmya5	A	T	13: 93,182,546 (GRCm39)	I3538N	probably damaging	Het
Cyp26a1	T	A	19: 37,687,753 (GRCm39)	M287K	possibly damaging	Het
Dcaf5	T	C	12: 80,446,732 (GRCm39)	D129G	probably damaging	Het
Dnah12	A	C	14: 26,536,370 (GRCm39)	K2095N	probably benign	Het
Dnpep	G	A	1: 75,292,701 (GRCm39)	S106L	probably damaging	Het
Dock2	C	T	11: 34,189,675 (GRCm39)	E1499K	possibly damaging	Het
Dus4l	A	G	12: 31,696,714 (GRCm39)	F88L	probably damaging	Het
Fcrl2	A	C	3: 87,166,830 (GRCm39)	D54E	probably benign	Het
Fign	T	A	2: 63,809,950 (GRCm39)	H440L	possibly damaging	Het
Gabpa	A	G	16: 84,643,174 (GRCm39)	D157G	probably damaging	Het
Gapdh	T	A	6: 125,142,403 (GRCm39)		probably benign	Het
Gbp8	G	T	5: 105,164,081 (GRCm39)	R406S	probably benign	Het
Gm21775	A	G	Y: 10,553,894 (GRCm39)	R148G	possibly damaging	Het
Gm28363	G	A	1: 117,626,579 (GRCm39)	V6I	unknown	Het
Gmps	A	G	3: 63,918,982 (GRCm39)	D522G	probably damaging	Het
Gpr75	T	C	11: 30,842,687 (GRCm39)	S531P	probably damaging	Het
Hars2	G	T	18: 36,923,614 (GRCm39)	E468D	probably benign	Het
Jph4	C	A	14: 55,352,664 (GRCm39)	R23L	probably damaging	Het
Kctd12	T	A	14: 103,219,230 (GRCm39)	Y216F	probably benign	Het
L3mbtl1	G	A	2: 162,791,460 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,926,675 (GRCm39)	S3494T	possibly damaging	Het
Mybpc2	A	G	7: 44,155,617 (GRCm39)	S879P	probably benign	Het
Ncaph	C	T	2: 126,964,034 (GRCm39)	V304M	probably benign	Het
Noto	A	T	6: 85,405,047 (GRCm39)	I229F	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,597,731 (GRCm39)	M170V	unknown	Het
Or4c29	T	C	2: 88,740,203 (GRCm39)	D178G	probably damaging	Het
Or8k25	T	A	2: 86,243,695 (GRCm39)	K234*	probably null	Het
Pald1	A	T	10: 61,182,845 (GRCm39)	V368E	probably damaging	Het
Pde9a	T	A	17: 31,678,071 (GRCm39)	M217K	probably damaging	Het
Pira1	A	T	7: 3,741,828 (GRCm39)	V184E	probably damaging	Het
Pitpnm2	G	T	5: 124,259,366 (GRCm39)	A1323E	probably benign	Het
Ppp1r3a	T	C	6: 14,719,190 (GRCm39)	S575G	probably benign	Het
Prok1	T	C	3: 107,146,941 (GRCm39)	I9V	probably benign	Het
Ptprc	A	T	1: 137,998,918 (GRCm39)	V905D	probably damaging	Het
Rbm25	G	T	12: 83,710,772 (GRCm39)	G295V	unknown	Het
Rreb1	T	C	13: 38,100,544 (GRCm39)	M225T	possibly damaging	Het
Ryr3	T	C	2: 112,858,989 (GRCm39)	K55E	probably damaging	Het
Saxo4	T	A	19: 10,459,702 (GRCm39)	M2L	probably benign	Het
Scgb2b26	G	T	7: 33,644,379 (GRCm39)	T4K	probably damaging	Het
Setx	C	A	2: 29,038,184 (GRCm39)	D1556E	probably benign	Het
Sft2d1	C	T	17: 8,542,164 (GRCm39)	T136I	possibly damaging	Het
Sirt5	C	T	13: 43,525,380 (GRCm39)	A63V	possibly damaging	Het
Skor2	A	G	18: 76,947,504 (GRCm39)	T409A	possibly damaging	Het
Slc12a6	T	C	2: 112,164,760 (GRCm39)	M153T	probably benign	Het
Slc34a1	A	G	13: 24,006,348 (GRCm39)	Y458C	probably damaging	Het
Slc36a2	A	G	11: 55,053,483 (GRCm39)	V385A	possibly damaging	Het
St6galnac5	A	T	3: 152,552,131 (GRCm39)	H145Q	probably damaging	Het
Tal1	T	A	4: 114,925,610 (GRCm39)	N226K	probably damaging	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Usp6nl	T	C	2: 6,445,330 (GRCm39)	S436P	probably benign	Het
Utp3	A	G	5: 88,702,621 (GRCm39)	E50G	probably benign	Het
Zfp12	A	T	5: 143,225,749 (GRCm39)	Q19L	probably damaging	Het

Other mutations in Cacna1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Cacna1d	APN	14	29,818,907 (GRCm39)	missense	probably damaging	0.97
IGL00857:Cacna1d	APN	14	30,072,638 (GRCm39)	missense	possibly damaging	0.83
IGL01015:Cacna1d	APN	14	29,773,699 (GRCm39)	splice site	probably benign
IGL01420:Cacna1d	APN	14	29,773,595 (GRCm39)	missense	probably benign	0.01
IGL01470:Cacna1d	APN	14	29,821,099 (GRCm39)	missense	probably damaging	0.99
IGL01560:Cacna1d	APN	14	29,821,163 (GRCm39)	missense	probably benign	0.00
IGL01617:Cacna1d	APN	14	29,824,328 (GRCm39)	missense	probably damaging	1.00
IGL01820:Cacna1d	APN	14	29,764,823 (GRCm39)	missense	possibly damaging	0.79
IGL01948:Cacna1d	APN	14	29,846,751 (GRCm39)	missense	probably damaging	1.00
IGL02702:Cacna1d	APN	14	29,845,490 (GRCm39)	nonsense	probably null
IGL02864:Cacna1d	APN	14	29,773,663 (GRCm39)	missense	probably benign	0.10
IGL03082:Cacna1d	APN	14	29,821,190 (GRCm39)	missense	probably damaging	1.00
Brisk	UTSW	14	29,893,271 (GRCm39)	missense	possibly damaging	0.91
Troppo	UTSW	14	29,845,411 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Cacna1d	UTSW	14	29,900,602 (GRCm39)	missense	probably damaging	1.00
R0015:Cacna1d	UTSW	14	29,836,928 (GRCm39)	missense	probably benign	0.00
R0015:Cacna1d	UTSW	14	29,836,928 (GRCm39)	missense	probably benign	0.00
R0033:Cacna1d	UTSW	14	29,827,446 (GRCm39)	missense	probably damaging	0.99
R0047:Cacna1d	UTSW	14	30,068,747 (GRCm39)	splice site	probably benign
R0047:Cacna1d	UTSW	14	30,068,747 (GRCm39)	splice site	probably benign
R0051:Cacna1d	UTSW	14	29,833,052 (GRCm39)	missense	probably damaging	1.00
R0051:Cacna1d	UTSW	14	29,833,052 (GRCm39)	missense	probably damaging	1.00
R0067:Cacna1d	UTSW	14	29,796,967 (GRCm39)	unclassified	probably benign
R0067:Cacna1d	UTSW	14	29,796,967 (GRCm39)	unclassified	probably benign
R0238:Cacna1d	UTSW	14	29,845,453 (GRCm39)	missense	probably benign	0.29
R0238:Cacna1d	UTSW	14	29,845,453 (GRCm39)	missense	probably benign	0.29
R0239:Cacna1d	UTSW	14	29,845,453 (GRCm39)	missense	probably benign	0.29
R0239:Cacna1d	UTSW	14	29,845,453 (GRCm39)	missense	probably benign	0.29
R0240:Cacna1d	UTSW	14	29,818,926 (GRCm39)	missense	probably benign	0.00
R0240:Cacna1d	UTSW	14	29,818,926 (GRCm39)	missense	probably benign	0.00
R0284:Cacna1d	UTSW	14	29,794,062 (GRCm39)	missense	probably damaging	1.00
R0416:Cacna1d	UTSW	14	29,822,645 (GRCm39)	splice site	probably benign
R0427:Cacna1d	UTSW	14	30,068,774 (GRCm39)	missense	probably damaging	0.99
R0517:Cacna1d	UTSW	14	29,901,232 (GRCm39)	missense	probably damaging	1.00
R0639:Cacna1d	UTSW	14	29,893,251 (GRCm39)	critical splice donor site	probably null
R0727:Cacna1d	UTSW	14	29,852,072 (GRCm39)	critical splice donor site	probably null
R0732:Cacna1d	UTSW	14	29,764,877 (GRCm39)	missense	probably damaging	0.99
R0843:Cacna1d	UTSW	14	29,846,828 (GRCm39)	missense	probably damaging	1.00
R0900:Cacna1d	UTSW	14	29,833,039 (GRCm39)	missense	probably damaging	1.00
R1278:Cacna1d	UTSW	14	29,900,660 (GRCm39)	missense	probably damaging	1.00
R1340:Cacna1d	UTSW	14	29,794,024 (GRCm39)	missense	probably damaging	0.96
R1527:Cacna1d	UTSW	14	29,829,753 (GRCm39)	missense	probably damaging	1.00
R1711:Cacna1d	UTSW	14	29,788,013 (GRCm39)	missense	probably damaging	1.00
R1736:Cacna1d	UTSW	14	29,811,820 (GRCm39)	missense	probably damaging	1.00
R1763:Cacna1d	UTSW	14	29,821,153 (GRCm39)	missense	probably benign	0.25
R2034:Cacna1d	UTSW	14	29,811,820 (GRCm39)	missense	probably damaging	1.00
R2086:Cacna1d	UTSW	14	29,769,314 (GRCm39)	missense	possibly damaging	0.83
R2126:Cacna1d	UTSW	14	29,845,120 (GRCm39)	missense	probably damaging	1.00
R2218:Cacna1d	UTSW	14	29,845,048 (GRCm39)	missense	probably damaging	1.00
R2219:Cacna1d	UTSW	14	29,764,047 (GRCm39)	missense	probably damaging	1.00
R2262:Cacna1d	UTSW	14	30,212,973 (GRCm39)	missense	possibly damaging	0.46
R2291:Cacna1d	UTSW	14	29,764,299 (GRCm39)	missense	probably damaging	1.00
R2399:Cacna1d	UTSW	14	29,774,444 (GRCm39)	missense	probably benign	0.34
R2424:Cacna1d	UTSW	14	29,770,980 (GRCm39)	missense	probably damaging	0.96
R2568:Cacna1d	UTSW	14	29,804,468 (GRCm39)	missense	probably damaging	0.99
R4038:Cacna1d	UTSW	14	29,788,040 (GRCm39)	missense	probably damaging	0.96
R4509:Cacna1d	UTSW	14	29,818,928 (GRCm39)	missense	probably damaging	1.00
R4649:Cacna1d	UTSW	14	29,817,365 (GRCm39)	missense	probably benign
R4650:Cacna1d	UTSW	14	29,817,365 (GRCm39)	missense	probably benign
R4652:Cacna1d	UTSW	14	29,817,365 (GRCm39)	missense	probably benign
R5009:Cacna1d	UTSW	14	29,801,289 (GRCm39)	missense	probably damaging	1.00
R5058:Cacna1d	UTSW	14	29,836,201 (GRCm39)	nonsense	probably null
R5063:Cacna1d	UTSW	14	29,773,340 (GRCm39)	missense	probably benign
R5138:Cacna1d	UTSW	14	30,212,929 (GRCm39)	missense	probably benign
R5151:Cacna1d	UTSW	14	29,845,280 (GRCm39)	missense	probably damaging	1.00
R5278:Cacna1d	UTSW	14	30,074,881 (GRCm39)	critical splice donor site	probably null
R5286:Cacna1d	UTSW	14	30,072,682 (GRCm39)	missense	possibly damaging	0.69
R5313:Cacna1d	UTSW	14	30,068,798 (GRCm39)	missense	probably benign	0.38
R5383:Cacna1d	UTSW	14	29,767,236 (GRCm39)	missense	possibly damaging	0.51
R5387:Cacna1d	UTSW	14	29,822,708 (GRCm39)	missense	probably damaging	1.00
R5514:Cacna1d	UTSW	14	30,072,790 (GRCm39)	nonsense	probably null
R5524:Cacna1d	UTSW	14	29,764,086 (GRCm39)	missense	probably benign	0.01
R5663:Cacna1d	UTSW	14	29,845,297 (GRCm39)	missense	probably damaging	1.00
R5712:Cacna1d	UTSW	14	29,796,954 (GRCm39)	missense	probably damaging	1.00
R5796:Cacna1d	UTSW	14	29,788,073 (GRCm39)	missense	probably damaging	1.00
R5906:Cacna1d	UTSW	14	29,818,917 (GRCm39)	missense	probably damaging	1.00
R5923:Cacna1d	UTSW	14	29,833,105 (GRCm39)	missense	probably damaging	1.00
R5936:Cacna1d	UTSW	14	29,893,271 (GRCm39)	missense	possibly damaging	0.91
R5938:Cacna1d	UTSW	14	29,825,692 (GRCm39)	missense	probably damaging	1.00
R6041:Cacna1d	UTSW	14	29,764,314 (GRCm39)	missense	probably damaging	1.00
R6432:Cacna1d	UTSW	14	29,845,411 (GRCm39)	missense	probably damaging	1.00
R6486:Cacna1d	UTSW	14	29,836,190 (GRCm39)	missense	probably benign	0.01
R6600:Cacna1d	UTSW	14	29,836,192 (GRCm39)	missense	probably benign	0.15
R6661:Cacna1d	UTSW	14	29,811,832 (GRCm39)	missense	probably damaging	1.00
R6753:Cacna1d	UTSW	14	29,764,743 (GRCm39)	missense	probably damaging	1.00
R6804:Cacna1d	UTSW	14	29,773,622 (GRCm39)	missense	probably benign	0.00
R6851:Cacna1d	UTSW	14	29,764,739 (GRCm39)	missense	probably damaging	1.00
R6863:Cacna1d	UTSW	14	29,797,809 (GRCm39)	missense	probably damaging	1.00
R6916:Cacna1d	UTSW	14	29,817,321 (GRCm39)	missense	probably damaging	1.00
R6925:Cacna1d	UTSW	14	29,773,594 (GRCm39)	missense	probably benign
R7066:Cacna1d	UTSW	14	30,074,935 (GRCm39)	intron	probably benign
R7242:Cacna1d	UTSW	14	29,900,663 (GRCm39)	missense	probably benign	0.00
R7249:Cacna1d	UTSW	14	29,864,660 (GRCm39)	missense	probably damaging	1.00
R7250:Cacna1d	UTSW	14	29,797,108 (GRCm39)	missense	probably damaging	1.00
R7274:Cacna1d	UTSW	14	29,864,600 (GRCm39)	missense	probably damaging	1.00
R7336:Cacna1d	UTSW	14	29,767,239 (GRCm39)	missense	probably benign	0.18
R7343:Cacna1d	UTSW	14	29,845,014 (GRCm39)	missense	probably benign	0.02
R7411:Cacna1d	UTSW	14	30,074,947 (GRCm39)	start codon destroyed	probably null
R7461:Cacna1d	UTSW	14	29,788,120 (GRCm39)	missense	probably benign	0.05
R7534:Cacna1d	UTSW	14	29,801,319 (GRCm39)	missense	probably damaging	1.00
R7613:Cacna1d	UTSW	14	29,788,120 (GRCm39)	missense	probably benign	0.05
R7661:Cacna1d	UTSW	14	29,769,177 (GRCm39)	missense	probably benign	0.07
R7754:Cacna1d	UTSW	14	29,797,809 (GRCm39)	missense	probably damaging	1.00
R7759:Cacna1d	UTSW	14	29,821,145 (GRCm39)	missense	probably benign	0.01
R7784:Cacna1d	UTSW	14	29,845,396 (GRCm39)	missense	probably damaging	1.00
R7808:Cacna1d	UTSW	14	29,833,026 (GRCm39)	missense	probably damaging	1.00
R7965:Cacna1d	UTSW	14	29,769,270 (GRCm39)	nonsense	probably null
R8225:Cacna1d	UTSW	14	29,844,990 (GRCm39)	missense	probably benign	0.23
R8259:Cacna1d	UTSW	14	29,773,475 (GRCm39)	missense	probably benign
R8348:Cacna1d	UTSW	14	29,824,364 (GRCm39)	missense	probably damaging	1.00
R8448:Cacna1d	UTSW	14	29,824,364 (GRCm39)	missense	probably damaging	1.00
R8822:Cacna1d	UTSW	14	29,900,692 (GRCm39)	missense	probably benign	0.02
R8848:Cacna1d	UTSW	14	29,845,283 (GRCm39)	missense	possibly damaging	0.89
R9122:Cacna1d	UTSW	14	29,852,125 (GRCm39)	missense	probably benign	0.00
R9122:Cacna1d	UTSW	14	29,845,402 (GRCm39)	missense	probably damaging	1.00
R9169:Cacna1d	UTSW	14	29,796,873 (GRCm39)	missense	probably damaging	1.00
R9199:Cacna1d	UTSW	14	29,764,893 (GRCm39)	missense	probably benign	0.26
R9203:Cacna1d	UTSW	14	29,773,669 (GRCm39)	missense	probably benign	0.04
R9263:Cacna1d	UTSW	14	29,796,925 (GRCm39)	missense	probably damaging	1.00
R9346:Cacna1d	UTSW	14	29,818,880 (GRCm39)	missense	possibly damaging	0.86
R9444:Cacna1d	UTSW	14	29,829,741 (GRCm39)	critical splice donor site	probably null
R9487:Cacna1d	UTSW	14	29,845,419 (GRCm39)	missense	possibly damaging	0.90
R9542:Cacna1d	UTSW	14	29,845,316 (GRCm39)	missense	probably benign	0.00
R9651:Cacna1d	UTSW	14	29,764,881 (GRCm39)	missense	probably benign	0.00
R9785:Cacna1d	UTSW	14	29,824,300 (GRCm39)	critical splice donor site	probably null
Z1176:Cacna1d	UTSW	14	29,833,073 (GRCm39)	missense	probably benign	0.15
Z1176:Cacna1d	UTSW	14	29,901,145 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGCTAAGGCTCTACTCTAGAAGG -3'
(R):5'- GTGCCCCTTTCTATCAGTGG -3'

Sequencing Primer
(F):5'- AGGCTCTACTCTAGAAGGTTGTTTTC -3'
(R):5'- ATCAGTGGACAGTATTGTTGTCTCCC -3'

Posted On

2019-06-26