Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Cacna1d'

569528

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

045426-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29761898-30213113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29767239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1940 (D1940G)

Ref Sequence

ENSEMBL: ENSMUSP00000107869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067620] [ENSMUST00000112249] [ENSMUST00000112250] [ENSMUST00000223803] [ENSMUST00000224198] [ENSMUST00000224395] [ENSMUST00000224785]

AlphaFold

Q99246

Predicted Effect

probably benign
Transcript: ENSMUST00000067620

SMART Domains

Protein: ENSMUSP00000065542
Gene: ENSMUSG00000015970

Domain	Start	End	E-Value	Type
Pfam:GMC_oxred_N	43	341	2.4e-98	PFAM
Pfam:Lycopene_cycl	45	110	8.4e-8	PFAM
Pfam:GMC_oxred_C	431	569	2.5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112249
AA Change: D1918G

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107868
Gene: ENSMUSG00000015968
AA Change: D1918G

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: D1940G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968
AA Change: D1940G

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: D1918G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000224198
AA Change: D1953G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224395

Predicted Effect

probably benign
Transcript: ENSMUST00000224785
AA Change: D1909G

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	G	A	3: 59,840,174 (GRCm39)		probably null	Het
Abca15	A	T	7: 119,987,456 (GRCm39)	Q1247H	possibly damaging	Het
Acsf2	G	C	11: 94,462,476 (GRCm39)	Q180E	probably benign	Het
Adamts8	A	G	9: 30,873,363 (GRCm39)	D856G	probably benign	Het
Agrn	A	T	4: 156,259,371 (GRCm39)	C828*	probably null	Het
Ankub1	T	C	3: 57,573,108 (GRCm39)	T205A	probably benign	Het
Atm	A	T	9: 53,373,803 (GRCm39)	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,799,855 (GRCm39)	F257L	probably benign	Het
Bcat2	T	A	7: 45,224,909 (GRCm39)	C27S	probably benign	Het
Bod1l	G	A	5: 41,978,867 (GRCm39)	R816C	probably damaging	Het
Btg3	A	G	16: 78,161,695 (GRCm39)	Y172H	probably benign	Het
Catsperg2	T	A	7: 29,406,026 (GRCm39)	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,508,110 (GRCm39)	V646A	probably benign	Het
Ccp110	C	T	7: 118,321,433 (GRCm39)	P363S	probably damaging	Het
Cct4	C	A	11: 22,951,564 (GRCm39)	T377K	possibly damaging	Het
Cemip2	C	A	19: 21,803,509 (GRCm39)	Y847*	probably null	Het
Cep350	T	A	1: 155,738,022 (GRCm39)	H2607L	probably benign	Het
Cfap46	A	G	7: 139,200,020 (GRCm39)	F1954L	unknown	Het
Chat	C	T	14: 32,145,213 (GRCm39)		probably null	Het
Clasp2	A	G	9: 113,705,421 (GRCm39)		probably null	Het
Cldn9	T	C	17: 23,901,989 (GRCm39)	D212G	probably benign	Het
Cp	G	A	3: 20,018,696 (GRCm39)		probably null	Het
Cyfip1	T	A	7: 55,576,148 (GRCm39)	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,625,299 (GRCm39)	D4060G	probably damaging	Het
Dpyd	A	G	3: 118,858,570 (GRCm39)	T595A	probably damaging	Het
Eps8	G	A	6: 137,486,211 (GRCm39)	R434C	possibly damaging	Het
Fasl	A	G	1: 161,615,557 (GRCm39)	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,826,712 (GRCm39)	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,478,025 (GRCm39)	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,825,653 (GRCm39)	N102S	probably damaging	Het
Gm2381	T	C	7: 42,471,804 (GRCm39)	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,472,239 (GRCm39)	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,498,237 (GRCm39)	K269N	probably damaging	Het
Icosl	C	A	10: 77,909,707 (GRCm39)	Y217*	probably null	Het
Il17rd	G	T	14: 26,809,503 (GRCm39)	R153L	probably benign	Het
Kif17	C	A	4: 138,025,617 (GRCm39)	T973K	possibly damaging	Het
Klk1b16	A	G	7: 43,790,907 (GRCm39)	I236M	probably benign	Het
Lgmn	G	A	12: 102,389,998 (GRCm39)		probably benign	Het
Lmbr1l	T	C	15: 98,811,468 (GRCm39)	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,584,474 (GRCm39)	I196N	possibly damaging	Het
Maml1	C	T	11: 50,157,276 (GRCm39)	A300T	possibly damaging	Het
Mapkap1	A	T	2: 34,423,829 (GRCm39)	Q293L	possibly damaging	Het
Mki67	T	C	7: 135,315,568 (GRCm39)	T69A	probably benign	Het
Mlph	G	A	1: 90,849,705 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,111,435 (GRCm39)	M1625L	probably benign	Het
Myh3	G	T	11: 66,981,847 (GRCm39)	R781L	probably benign	Het
Nckap5	A	T	1: 125,953,786 (GRCm39)	I922K	probably benign	Het
Nlrp5	T	A	7: 23,117,059 (GRCm39)	M261K	probably damaging	Het
Or1e1d-ps1	G	A	11: 73,819,663 (GRCm39)	M204I	probably benign	Het
Or4f47	A	T	2: 111,972,514 (GRCm39)	S75C	possibly damaging	Het
Or5af1	T	A	11: 58,722,750 (GRCm39)	Y257N	probably damaging	Het
Or8g52	A	G	9: 39,630,906 (GRCm39)	N128D	probably benign	Het
Pak1	T	A	7: 97,538,179 (GRCm39)	V262E	probably benign	Het
Pigw	A	T	11: 84,767,930 (GRCm39)	D466E	probably damaging	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,240,432 (GRCm39)		probably benign	Het
Rfx1	A	G	8: 84,800,385 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,500,639 (GRCm39)	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,384,702 (GRCm39)	D226E	probably benign	Het
Sgk3	G	A	1: 9,954,701 (GRCm39)	A271T	possibly damaging	Het
Sh2d5	T	A	4: 137,984,150 (GRCm39)	C173S	probably benign	Het
Skint8	T	C	4: 111,796,769 (GRCm39)	V291A	probably benign	Het
Slc22a27	T	A	19: 7,904,054 (GRCm39)	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,023,751 (GRCm39)	V449I	probably benign	Het
Slc39a9	T	C	12: 80,726,316 (GRCm39)	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,183,942 (GRCm39)	H495Y	probably damaging	Het
Stab2	G	A	10: 86,805,049 (GRCm39)	Q310*	probably null	Het
Supt16	C	A	14: 52,408,948 (GRCm39)	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,689,212 (GRCm39)	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,439,685 (GRCm39)	T565M	unknown	Het
Tll1	G	A	8: 64,478,176 (GRCm39)	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,867,512 (GRCm39)	T232I	possibly damaging	Het
Trim65	T	G	11: 116,019,116 (GRCm39)	D141A	probably benign	Het
Trim80	T	C	11: 115,332,042 (GRCm39)	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,709,051 (GRCm39)	I83N	probably benign	Het
Vnn3	G	A	10: 23,727,806 (GRCm39)	G72D	probably benign	Het
Wasl	G	T	6: 24,619,686 (GRCm39)	P278Q	unknown	Het
Wdr62	A	T	7: 29,943,342 (GRCm39)	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,942,814 (GRCm39)	T663I	unknown	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
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
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'- ATGTGCAACTCCAGCAGAATG -3'
(R):5'- CTTGGATGAAGCATGTGGCC -3'

Sequencing Primer
(F):5'- ATCTACCAGGAAGGGCTGCTC -3'
(R):5'- AAGCATGTGGCCTGCTTC -3'

Posted On

2019-09-13