Mutagenetix > Incidental Mutation

Incidental Mutation 'R2086:Cacna1d'

230021

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

040091-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29761898-30213113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29769314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1872 (Y1872C)

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: Y1850C

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

SMART Domains

Protein: ENSMUSP00000107868
Gene: ENSMUSG00000015968
AA Change: Y1850C

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

possibly damaging
Transcript: ENSMUST00000112250
AA Change: Y1872C

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968
AA Change: Y1872C

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

noncoding transcript
Transcript: ENSMUST00000223573

Predicted Effect

probably benign
Transcript: ENSMUST00000223803
AA Change: Y1850C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224198
AA Change: Y1885C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224395

Predicted Effect

probably benign
Transcript: ENSMUST00000224785
AA Change: Y1841C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225717

Meta Mutation Damage Score

0.0819

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,767 (GRCm39)	M53T	unknown	Het
Abcb11	T	A	2: 69,089,820 (GRCm39)		probably benign	Het
Acap2	C	G	16: 30,929,763 (GRCm39)	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,146,249 (GRCm39)	R302G	probably damaging	Het
Aoc1l1	A	G	6: 48,954,536 (GRCm39)	E558G	probably damaging	Het
Ap2b1	T	G	11: 83,241,944 (GRCm39)	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,171,116 (GRCm39)	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,734,834 (GRCm39)	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,468,304 (GRCm39)	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,623,810 (GRCm39)	V37D	probably damaging	Het
Carf	T	A	1: 60,148,570 (GRCm39)	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,349 (GRCm39)	E256G	probably damaging	Het
Cd5	A	G	19: 10,700,620 (GRCm39)	S295P	probably benign	Het
Cenpb	T	C	2: 131,020,517 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 64,942,076 (GRCm39)	M218T	possibly damaging	Het
Colec11	C	T	12: 28,644,786 (GRCm39)	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098 (GRCm39)		probably benign	Het
Csnk2a1	A	G	2: 152,096,201 (GRCm39)	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,011,733 (GRCm39)	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,981,116 (GRCm39)	Q98L	probably null	Het
Dnah11	G	T	12: 118,077,606 (GRCm39)	Q1296K	possibly damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Eid2b	C	T	7: 27,977,198 (GRCm39)		probably benign	Het
Exoc1	A	T	5: 76,680,693 (GRCm39)	K28*	probably null	Het
Fam114a1	A	G	5: 65,137,402 (GRCm39)	D115G	probably benign	Het
Fam151a	A	T	4: 106,592,760 (GRCm39)		probably null	Het
Gc	T	C	5: 89,586,201 (GRCm39)	Y313C	probably damaging	Het
Gdpd1	A	G	11: 86,926,094 (GRCm39)	Y284H	probably benign	Het
Gm21957	T	A	7: 124,818,878 (GRCm39)		noncoding transcript	Het
Golm1	G	A	13: 59,792,999 (GRCm39)	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281 (GRCm39)	V813A	probably damaging	Het
Itih1	C	T	14: 30,659,800 (GRCm39)	A279T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama1	T	C	17: 68,124,618 (GRCm39)	C2893R	probably damaging	Het
Lama3	T	A	18: 12,657,887 (GRCm39)	N334K	probably benign	Het
Loxhd1	A	G	18: 77,472,642 (GRCm39)	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,228,729 (GRCm39)	K316R	probably benign	Het
Mapre3	A	C	5: 31,020,546 (GRCm39)		probably null	Het
Mgam	T	A	6: 40,737,962 (GRCm39)		probably null	Het
Mical2	A	C	7: 111,917,810 (GRCm39)	H389P	probably benign	Het
Mtmr2	A	G	9: 13,711,248 (GRCm39)	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nodal	A	T	10: 61,259,077 (GRCm39)	E171D	possibly damaging	Het
Notch2	T	C	3: 98,009,683 (GRCm39)	S537P	probably damaging	Het
Obox6	A	G	7: 15,567,532 (GRCm39)	L305S	probably damaging	Het
Obscn	T	C	11: 58,969,082 (GRCm39)	D2715G	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or5g26	A	C	2: 85,494,090 (GRCm39)	S229R	probably benign	Het
Pcca	T	C	14: 122,923,527 (GRCm39)	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,334,906 (GRCm39)	S407P	probably damaging	Het
Plekha5	C	A	6: 140,516,044 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,101,619 (GRCm39)	N72S	probably benign	Het
Ptprs	T	C	17: 56,761,984 (GRCm39)	I43V	probably null	Het
Pygm	G	A	19: 6,441,511 (GRCm39)		probably null	Het
Rab7	C	T	6: 87,989,300 (GRCm39)	V57I	probably benign	Het
Rasl10a	A	G	11: 5,009,431 (GRCm39)		probably null	Het
Rergl	T	C	6: 139,471,832 (GRCm39)	T106A	probably benign	Het
Rnf17	T	G	14: 56,720,837 (GRCm39)	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,633,126 (GRCm39)	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,600,280 (GRCm39)	M1V	probably null	Het
Rps6ka5	T	C	12: 100,585,874 (GRCm39)	T140A	possibly damaging	Het
Sbno2	T	A	10: 79,893,690 (GRCm39)	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,641,521 (GRCm39)	I68N	probably damaging	Het
Slc35a5	A	G	16: 44,964,628 (GRCm39)	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,651,772 (GRCm39)	S93W	probably damaging	Het
Slc49a3	C	T	5: 108,593,487 (GRCm39)	R117H	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Spag1	T	C	15: 36,227,287 (GRCm39)	L648P	probably damaging	Het
Tagap1	T	C	17: 7,224,102 (GRCm39)	D198G	probably benign	Het
Tedc2	T	C	17: 24,436,874 (GRCm39)	E287G	probably damaging	Het
Tjp1	C	A	7: 64,962,669 (GRCm39)	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ttc38	T	A	15: 85,722,928 (GRCm39)	D125E	probably benign	Het
Uggt1	C	T	1: 36,231,495 (GRCm39)	R490Q	probably null	Het
Uroc1	T	G	6: 90,321,096 (GRCm39)	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,997,455 (GRCm39)	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,896,949 (GRCm39)	L99V	probably damaging	Het
Vps13c	C	T	9: 67,857,571 (GRCm39)	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830 (GRCm39)	L932P	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
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
R7188:Cacna1d	UTSW	14	29,811,790 (GRCm39)	missense	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'- ACAAGAAAGCTGGCCTCACATG -3'
(R):5'- GTGATCACCATTCGCTTCGG -3'

Sequencing Primer
(F):5'- TGGCCTCACATGGTGGG -3'
(R):5'- GCATGAAAATGACTGCCATGTGTC -3'

Posted On

2014-09-18