Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Cacna1d'

530920

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

044870-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29761898-30213113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29764743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 2076 (A2076S)

Ref Sequence

ENSEMBL: ENSMUSP00000153250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067620] [ENSMUST00000112249] [ENSMUST00000112250] [ENSMUST00000118917] [ENSMUST00000223803] [ENSMUST00000224198] [ENSMUST00000224785] [ENSMUST00000224395]

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 damaging
Transcript: ENSMUST00000112249
AA Change: A2041S

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

SMART Domains

Protein: ENSMUSP00000107868
Gene: ENSMUSG00000015968
AA Change: A2041S

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: A2063S

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

SMART Domains

Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968
AA Change: A2063S

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: ENSMUST00000118917

SMART Domains

Protein: ENSMUSP00000112916
Gene: ENSMUSG00000015970

Domain	Start	End	E-Value	Type
Pfam:GMC_oxred_N	43	341	2.4e-98	PFAM
Pfam:Lycopene_cycl	44	109	1.9e-8	PFAM
Pfam:GMC_oxred_C	431	569	5.9e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223573

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223803
AA Change: A2041S

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224198
AA Change: A2076S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000224785
AA Change: A2032S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000224395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225717

Meta Mutation Damage Score

0.2710

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 119,900,977 (GRCm39)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,908,641 (GRCm39)	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Agk	T	A	6: 40,345,504 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,777,603 (GRCm39)	M586K	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Armc1	A	G	3: 19,198,562 (GRCm39)	F133L	possibly damaging	Het
Bank1	T	C	3: 135,799,069 (GRCm39)	E424G	probably damaging	Het
Cacna1a	A	G	8: 85,306,834 (GRCm39)	E1363G	probably damaging	Het
Ccdc73	T	A	2: 104,821,869 (GRCm39)	L606*	probably null	Het
Ccdc8	C	T	7: 16,730,562 (GRCm39)	Q684*	probably null	Het
Ces1b	T	A	8: 93,793,648 (GRCm39)	K314*	probably null	Het
Ces1e	T	A	8: 93,941,756 (GRCm39)	N238I	probably damaging	Het
Chd4	A	G	6: 125,091,263 (GRCm39)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,949,611 (GRCm39)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,787,196 (GRCm39)	T559I	unknown	Het
Comt	T	C	16: 18,226,771 (GRCm39)	K205R	probably benign	Het
Dbp	A	T	7: 45,357,828 (GRCm39)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,276,493 (GRCm39)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,704,987 (GRCm39)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,128,732 (GRCm39)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,711,186 (GRCm39)	I86N	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,889,503 (GRCm39)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,014,254 (GRCm39)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,924,854 (GRCm39)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 81,947,054 (GRCm39)	D385G	probably null	Het
Ints1	T	A	5: 139,750,930 (GRCm39)	E824D	probably damaging	Het
Itfg1	T	C	8: 86,561,707 (GRCm39)	D142G	probably benign	Het
Jaml	A	G	9: 45,018,677 (GRCm39)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,680,721 (GRCm39)	I289L	probably benign	Het
Klf12	G	A	14: 100,347,212 (GRCm39)	Q40*	probably null	Het
Mcm4	A	C	16: 15,447,226 (GRCm39)	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,917,358 (GRCm39)	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,764,208 (GRCm39)	V86M	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Narf	T	A	11: 121,133,452 (GRCm39)	H84Q	probably benign	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otog	A	C	7: 45,898,495 (GRCm39)	E204D	probably benign	Het
Parp8	G	A	13: 117,031,651 (GRCm39)	H354Y	possibly damaging	Het
Pcnx1	C	A	12: 82,011,254 (GRCm39)	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 110,351,081 (GRCm39)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,453,059 (GRCm39)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,765,218 (GRCm39)	Y521N	probably benign	Het
Prex2	A	G	1: 11,254,680 (GRCm39)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,638,153 (GRCm39)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,542,848 (GRCm39)	A167V	probably benign	Het
Rims2	A	G	15: 39,430,369 (GRCm39)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,934,611 (GRCm39)	M253K	probably benign	Het
Ryr3	T	C	2: 112,482,955 (GRCm39)	D4269G	probably damaging	Het
Snx11	T	C	11: 96,660,732 (GRCm39)		probably benign	Het
Son	A	G	16: 91,454,076 (GRCm39)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,797,813 (GRCm39)	R1880L	probably benign	Het
Sun1	G	A	5: 139,201,014 (GRCm39)		probably null	Het
Tprn	A	G	2: 25,154,050 (GRCm39)	R451G	probably benign	Het
Trbv30	T	A	6: 41,258,311 (GRCm39)	M1K	probably null	Het
Ttn	C	A	2: 76,568,565 (GRCm39)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,442,353 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,331 (GRCm39)	R1038C	probably damaging	Het
Usp7	T	C	16: 8,514,775 (GRCm39)	M687V	probably benign	Het
Zfp160	G	A	17: 21,240,996 (GRCm39)	M21I	probably benign	Het
Zfp868	T	C	8: 70,064,747 (GRCm39)	N196S	probably benign	Het
Zup1	A	T	10: 33,804,025 (GRCm39)	I483N	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
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'- CAGTGCCAGCTGGTTTTCAC -3'
(R):5'- TTCCAGTAAAGCCCAGAAGTACTC -3'

Sequencing Primer
(F):5'- ACTCAGGCCTTAAATGCTGC -3'
(R):5'- ATACCGAGACTGGAGCCCATG -3'

Posted On

2018-08-01