Mutagenetix > Incidental Mutation

Incidental Mutation 'R6486:Cacna2d1'

543436

Institutional Source

Beutler Lab

Gene Symbol

Cacna2d1

Ensembl Gene

ENSMUSG00000040118

Gene Name

calcium channel, voltage-dependent, alpha2/delta subunit 1

Synonyms

Cchl2a, Cacna2, Ca(v)alpha2delta1

MMRRC Submission

044618-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.302) question?

Stock #

R6486 (G1)

Quality Score

52.0072

Status

Validated

Chromosome

Chromosomal Location

16139689-16579509 bp(+) (GRCm39)

Type of Mutation

splice site (138 bp from exon)

DNA Base Change (assembly)

C to T at 16524448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039370] [ENSMUST00000078272] [ENSMUST00000101581] [ENSMUST00000115281] [ENSMUST00000167946] [ENSMUST00000180204] [ENSMUST00000199704]

AlphaFold

O08532

Predicted Effect

probably null
Transcript: ENSMUST00000039370

SMART Domains

Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:VWA_N	104	223	6.3e-42	PFAM
VWA	251	425	5.16e-25	SMART
Pfam:Cache_1	446	536	1e-31	PFAM
Pfam:VGCC_alpha2	562	655	1e-46	PFAM
low complexity region	675	686	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000078272

SMART Domains

Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:VWA_N	104	223	1.2e-45	PFAM
VWA	251	425	5.16e-25	SMART
Pfam:Cache_1	446	537	1.1e-30	PFAM
Pfam:VGCC_alpha2	543	634	3.3e-53	PFAM
low complexity region	656	667	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000101581

SMART Domains

Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:VWA_N	104	223	1.2e-45	PFAM
VWA	251	425	5.16e-25	SMART
Pfam:Cache_1	446	537	1.1e-30	PFAM
Pfam:VGCC_alpha2	543	636	1.2e-59	PFAM
low complexity region	663	674	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115281

SMART Domains

Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:VWA_N	104	223	6.2e-46	PFAM
VWA	251	425	5.16e-25	SMART
Pfam:Cache_1	446	533	3.8e-30	PFAM
Pfam:VGCC_alpha2	538	631	6.2e-60	PFAM
low complexity region	658	669	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167946

SMART Domains

Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:VWA_N	104	223	3.8e-46	PFAM
VWA	251	425	5.16e-25	SMART
Pfam:Cache_1	446	537	2.6e-30	PFAM
Pfam:VGCC_alpha2	543	636	5.5e-56	PFAM
low complexity region	663	674	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000180204

SMART Domains

Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:VWA_N	104	223	6.2e-46	PFAM
VWA	251	425	5.16e-25	SMART
Pfam:Cache_1	446	533	3.8e-30	PFAM
Pfam:VGCC_alpha2	538	631	6.2e-60	PFAM
low complexity region	658	669	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000199704

SMART Domains

Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:VWA_N	104	223	1.2e-45	PFAM
VWA	251	425	5.16e-25	SMART
Pfam:Cache_1	446	533	6.3e-30	PFAM
Pfam:VGCC_alpha2	538	629	3.3e-53	PFAM
low complexity region	651	662	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (30/30)

MGI Phenotype

FUNCTION: This gene encodes a regulatory component of the voltage-dependent calcium channel complex. The product of this gene is a proprotein that is proteolytically processed into alpha-2 and delta subunits, which are linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice with a point mutation allele exhibit abnormal CNS synaptic transmission and decreased response to pregabalin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1d	T	A	14: 29,836,190 (GRCm39)	M853L	probably benign	Het
Capg	G	T	6: 72,534,733 (GRCm39)	E187*	probably null	Het
Carns1	C	T	19: 4,219,979 (GRCm39)	A419T	probably benign	Het
Cpt1b	A	G	15: 89,305,027 (GRCm39)	M407T	probably benign	Het
Dlg2	A	T	7: 91,521,582 (GRCm39)		probably null	Het
Ep400	T	C	5: 110,845,084 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,360,186 (GRCm39)	N704D	probably damaging	Het
Gga2	A	G	7: 121,601,411 (GRCm39)	S231P	probably damaging	Het
Gpbp1l1	A	G	4: 116,438,572 (GRCm39)	K223E	probably damaging	Het
Homer1	A	T	13: 93,528,233 (GRCm39)	N78I	possibly damaging	Het
Lmbr1	C	T	5: 29,528,859 (GRCm39)	V122M	probably damaging	Het
Mpeg1	C	A	19: 12,439,469 (GRCm39)	A309E	probably damaging	Het
Myo18a	A	G	11: 77,755,648 (GRCm39)	E1713G	possibly damaging	Het
Neto1	A	G	18: 86,479,371 (GRCm39)	I186M	probably benign	Het
Nfasc	T	C	1: 132,532,952 (GRCm39)	D668G	probably damaging	Het
Nlrc5	T	C	8: 95,247,927 (GRCm39)		probably null	Het
Or1j11	A	T	2: 36,311,556 (GRCm39)	I49F	probably damaging	Het
Or5b124	T	G	19: 13,611,055 (GRCm39)	N193K	probably damaging	Het
Or8c11	G	A	9: 38,289,200 (GRCm39)	V2I	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,570,628 (GRCm39)	S2304P	probably damaging	Het
Sgsm3	T	C	15: 80,895,546 (GRCm39)	I699T	probably damaging	Het
Slc8b1	T	C	5: 120,671,067 (GRCm39)	F551S	probably damaging	Het
Stra6	TC	T	9: 58,058,705 (GRCm39)		probably null	Het
Tlr3	T	C	8: 45,851,650 (GRCm39)		probably null	Het
Tnfrsf22	T	C	7: 143,194,493 (GRCm39)	T145A	possibly damaging	Het
Trp63	A	T	16: 25,684,090 (GRCm39)	T326S	probably damaging	Het
Unc45a	C	G	7: 79,989,400 (GRCm39)	E23Q	probably benign	Het
Vmn1r234	A	T	17: 21,449,604 (GRCm39)	M173L	probably benign	Het
Vmn2r13	T	G	5: 109,304,425 (GRCm39)	I669L	probably benign	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het

Other mutations in Cacna2d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Cacna2d1	APN	5	16,417,942 (GRCm39)	missense	probably damaging	1.00
IGL00470:Cacna2d1	APN	5	16,451,654 (GRCm39)	splice site	probably benign
IGL00495:Cacna2d1	APN	5	16,575,607 (GRCm39)	missense	probably benign	0.05
IGL00538:Cacna2d1	APN	5	16,451,783 (GRCm39)	nonsense	probably null
IGL00990:Cacna2d1	APN	5	16,140,067 (GRCm39)	missense	probably benign	0.23
IGL01079:Cacna2d1	APN	5	16,575,646 (GRCm39)	missense	probably benign	0.03
IGL01344:Cacna2d1	APN	5	16,575,629 (GRCm39)	missense	probably benign	0.26
IGL01597:Cacna2d1	APN	5	16,531,390 (GRCm39)	splice site	probably benign
IGL01645:Cacna2d1	APN	5	16,217,389 (GRCm39)	splice site	probably null
IGL01959:Cacna2d1	APN	5	16,417,895 (GRCm39)	missense	probably benign	0.00
IGL02397:Cacna2d1	APN	5	16,525,162 (GRCm39)	splice site	probably benign
IGL03152:Cacna2d1	APN	5	16,527,566 (GRCm39)	missense	probably benign	0.00
IGL03216:Cacna2d1	APN	5	16,558,840 (GRCm39)	missense	probably damaging	0.98
IGL03374:Cacna2d1	APN	5	16,561,821 (GRCm39)	missense	probably damaging	0.99
PIT4283001:Cacna2d1	UTSW	5	16,507,292 (GRCm39)	missense	probably benign	0.31
PIT4585001:Cacna2d1	UTSW	5	16,531,342 (GRCm39)	missense	probably damaging	1.00
R0158:Cacna2d1	UTSW	5	16,566,815 (GRCm39)	splice site	probably benign
R0457:Cacna2d1	UTSW	5	16,472,414 (GRCm39)	missense	probably damaging	1.00
R0477:Cacna2d1	UTSW	5	16,399,796 (GRCm39)	critical splice donor site	probably null
R0483:Cacna2d1	UTSW	5	16,564,025 (GRCm39)	missense	probably damaging	0.98
R0532:Cacna2d1	UTSW	5	16,567,271 (GRCm39)	missense	probably benign	0.13
R0552:Cacna2d1	UTSW	5	16,533,041 (GRCm39)	missense	probably damaging	1.00
R0924:Cacna2d1	UTSW	5	16,570,860 (GRCm39)	missense	possibly damaging	0.79
R0930:Cacna2d1	UTSW	5	16,570,860 (GRCm39)	missense	possibly damaging	0.79
R1144:Cacna2d1	UTSW	5	16,527,595 (GRCm39)	critical splice donor site	probably null
R1164:Cacna2d1	UTSW	5	16,566,874 (GRCm39)	critical splice donor site	probably null
R1398:Cacna2d1	UTSW	5	16,562,764 (GRCm39)	missense	possibly damaging	0.47
R1440:Cacna2d1	UTSW	5	16,560,493 (GRCm39)	missense	probably damaging	1.00
R1543:Cacna2d1	UTSW	5	16,471,716 (GRCm39)	missense	possibly damaging	0.62
R1573:Cacna2d1	UTSW	5	16,575,625 (GRCm39)	missense	probably damaging	1.00
R1633:Cacna2d1	UTSW	5	16,525,114 (GRCm39)	missense	probably damaging	1.00
R1673:Cacna2d1	UTSW	5	16,504,988 (GRCm39)	missense	probably damaging	1.00
R1750:Cacna2d1	UTSW	5	16,469,286 (GRCm39)	missense	probably benign	0.01
R1753:Cacna2d1	UTSW	5	16,507,352 (GRCm39)	missense	possibly damaging	0.95
R1966:Cacna2d1	UTSW	5	16,538,783 (GRCm39)	nonsense	probably null
R2163:Cacna2d1	UTSW	5	16,567,317 (GRCm39)	missense	probably damaging	1.00
R2258:Cacna2d1	UTSW	5	16,562,287 (GRCm39)	missense	probably damaging	1.00
R2870:Cacna2d1	UTSW	5	16,517,566 (GRCm39)	missense	probably damaging	1.00
R2870:Cacna2d1	UTSW	5	16,517,566 (GRCm39)	missense	probably damaging	1.00
R4303:Cacna2d1	UTSW	5	16,507,246 (GRCm39)	splice site	probably null
R4804:Cacna2d1	UTSW	5	16,564,206 (GRCm39)	missense	probably damaging	0.97
R5032:Cacna2d1	UTSW	5	16,564,068 (GRCm39)	missense	probably damaging	1.00
R5080:Cacna2d1	UTSW	5	16,567,394 (GRCm39)	critical splice donor site	probably null
R5466:Cacna2d1	UTSW	5	16,451,712 (GRCm39)	missense	probably damaging	1.00
R5469:Cacna2d1	UTSW	5	16,557,676 (GRCm39)	missense	probably damaging	0.99
R5564:Cacna2d1	UTSW	5	16,517,517 (GRCm39)	missense	probably damaging	1.00
R5655:Cacna2d1	UTSW	5	16,507,333 (GRCm39)	missense	probably damaging	1.00
R5688:Cacna2d1	UTSW	5	16,563,950 (GRCm39)	missense	probably damaging	0.99
R5729:Cacna2d1	UTSW	5	16,140,037 (GRCm39)	nonsense	probably null
R6005:Cacna2d1	UTSW	5	16,566,819 (GRCm39)	missense	probably damaging	1.00
R6343:Cacna2d1	UTSW	5	16,527,562 (GRCm39)	missense	probably benign	0.09
R6485:Cacna2d1	UTSW	5	16,559,655 (GRCm39)	missense	probably damaging	1.00
R6625:Cacna2d1	UTSW	5	16,567,391 (GRCm39)	missense	probably null	1.00
R6700:Cacna2d1	UTSW	5	16,570,458 (GRCm39)	missense	probably damaging	1.00
R6706:Cacna2d1	UTSW	5	16,531,338 (GRCm39)	missense	probably damaging	1.00
R6711:Cacna2d1	UTSW	5	16,505,039 (GRCm39)	missense	probably damaging	1.00
R7025:Cacna2d1	UTSW	5	16,557,666 (GRCm39)	nonsense	probably null
R7035:Cacna2d1	UTSW	5	16,451,670 (GRCm39)	missense	probably damaging	1.00
R7086:Cacna2d1	UTSW	5	16,554,414 (GRCm39)	missense	probably damaging	1.00
R7110:Cacna2d1	UTSW	5	16,562,782 (GRCm39)	missense	probably damaging	0.99
R7268:Cacna2d1	UTSW	5	16,575,586 (GRCm39)	missense	probably damaging	0.99
R7310:Cacna2d1	UTSW	5	16,519,914 (GRCm39)	missense	probably damaging	1.00
R7471:Cacna2d1	UTSW	5	16,139,973 (GRCm39)	start gained	probably benign
R7608:Cacna2d1	UTSW	5	16,564,022 (GRCm39)	missense	probably damaging	1.00
R7712:Cacna2d1	UTSW	5	16,567,347 (GRCm39)	missense	probably damaging	0.98
R8014:Cacna2d1	UTSW	5	16,547,689 (GRCm39)	missense	possibly damaging	0.55
R8161:Cacna2d1	UTSW	5	16,519,935 (GRCm39)	missense	probably damaging	1.00
R8669:Cacna2d1	UTSW	5	16,140,013 (GRCm39)	start codon destroyed	probably null	0.53
R8670:Cacna2d1	UTSW	5	16,140,013 (GRCm39)	start codon destroyed	probably null	0.53
R8682:Cacna2d1	UTSW	5	16,558,837 (GRCm39)	missense	possibly damaging	0.95
R8697:Cacna2d1	UTSW	5	16,570,865 (GRCm39)	missense	possibly damaging	0.89
R8807:Cacna2d1	UTSW	5	16,472,452 (GRCm39)	missense	probably damaging	1.00
R8834:Cacna2d1	UTSW	5	16,471,735 (GRCm39)	missense	possibly damaging	0.79
R9135:Cacna2d1	UTSW	5	16,558,850 (GRCm39)	missense	probably damaging	1.00
R9158:Cacna2d1	UTSW	5	16,140,039 (GRCm39)	missense	probably benign
R9169:Cacna2d1	UTSW	5	16,451,757 (GRCm39)	missense	probably damaging	1.00
R9294:Cacna2d1	UTSW	5	16,217,396 (GRCm39)	missense	probably damaging	0.97
R9296:Cacna2d1	UTSW	5	16,564,068 (GRCm39)	missense	probably damaging	1.00
R9393:Cacna2d1	UTSW	5	16,140,013 (GRCm39)	start codon destroyed	probably null	0.53
R9394:Cacna2d1	UTSW	5	16,140,013 (GRCm39)	start codon destroyed	probably null	0.53
R9395:Cacna2d1	UTSW	5	16,140,013 (GRCm39)	start codon destroyed	probably null	0.53
R9484:Cacna2d1	UTSW	5	16,561,831 (GRCm39)	missense	probably damaging	1.00
RF024:Cacna2d1	UTSW	5	16,230,774 (GRCm39)	missense	possibly damaging	0.80
Z1088:Cacna2d1	UTSW	5	16,399,761 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGGAAGATATCAAGAGATTGACACC -3'
(R):5'- TTGGGAGATTAGCCACATGC -3'

Sequencing Primer
(F):5'- ACCACGTTTTACAGTAAGCTGC -3'
(R):5'- TTGATTGCAAGCGAATCCCCATG -3'

Posted On

2018-12-12