Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01597:Cacna2d1'

91725

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cacna2d1

Ensembl Gene

ENSMUSG00000040118

Gene Name

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

Synonyms

Cchl2a, Cacna2, Ca(v)alpha2delta1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

IGL01597

Quality Score

Status

Chromosome

Chromosomal Location

16139689-16579509 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 16531390 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 benign
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 benign
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 benign
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 benign
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 benign
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 benign
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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200294

Coding Region Coverage

Validation Efficiency

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
Cdk12	A	G	11: 98,141,090 (GRCm39)		probably benign	Het
Ces1e	T	A	8: 93,937,001 (GRCm39)	I357F	probably benign	Het
Dicer1	G	A	12: 104,671,469 (GRCm39)	R934*	probably null	Het
Dnah9	A	T	11: 66,009,656 (GRCm39)	Y744N	probably damaging	Het
Fgd5	T	A	6: 91,964,910 (GRCm39)	I381N	probably damaging	Het
Gabrg1	T	C	5: 70,939,691 (GRCm39)	D147G	probably damaging	Het
Gpsm2	A	T	3: 108,604,303 (GRCm39)	M385K	probably benign	Het
Hivep2	C	T	10: 14,025,118 (GRCm39)	Q2311*	probably null	Het
Or51ah3	A	G	7: 103,210,349 (GRCm39)	I222V	possibly damaging	Het
Or51b17	A	G	7: 103,542,303 (GRCm39)	V213A	probably benign	Het
Or5c1	A	C	2: 37,222,023 (GRCm39)	D88A	possibly damaging	Het
Or7e173	A	T	9: 19,938,982 (GRCm39)	M84K	probably damaging	Het
Papss2	G	A	19: 32,615,658 (GRCm39)	R130H	probably damaging	Het
Pik3r5	A	T	11: 68,386,827 (GRCm39)	I819F	probably damaging	Het
Pipox	A	G	11: 77,774,019 (GRCm39)	V199A	probably damaging	Het
Pkd1l3	G	T	8: 110,350,153 (GRCm39)	V333L	probably benign	Het
Rbl1	A	G	2: 157,037,369 (GRCm39)		probably benign	Het
Scyl2	T	A	10: 89,488,849 (GRCm39)	I489F	probably damaging	Het
Serinc4	T	A	2: 121,285,472 (GRCm39)	L100F	probably damaging	Het
Slc39a12	T	A	2: 14,439,120 (GRCm39)	F458Y	possibly damaging	Het
Snrnp200	T	C	2: 127,080,652 (GRCm39)		probably benign	Het
Syngr4	T	C	7: 45,536,390 (GRCm39)	T211A	probably benign	Het
Taar8a	T	C	10: 23,952,756 (GRCm39)	L120P	possibly damaging	Het
Tbx10	A	G	19: 4,046,736 (GRCm39)	K72R	probably benign	Het
Tomm70a	A	G	16: 56,953,551 (GRCm39)	T149A	probably benign	Het
Traip	T	A	9: 107,833,123 (GRCm39)		probably null	Het
Trpm3	G	A	19: 22,692,610 (GRCm39)	G234R	probably damaging	Het
Tubgcp5	A	G	7: 55,456,580 (GRCm39)		probably benign	Het
Vstm5	T	C	9: 15,168,675 (GRCm39)	W80R	probably damaging	Het
Vwa5a	A	T	9: 38,645,161 (GRCm39)	R415S	probably damaging	Het
Zfp39	A	G	11: 58,782,369 (GRCm39)	V131A	probably damaging	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
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
R6486:Cacna2d1	UTSW	5	16,524,448 (GRCm39)	splice site	probably null
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

Posted On

2013-12-09