Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01079:Cacna2d1'

51055

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: 0.302) question?

Stock #

IGL01079

Quality Score

Status

Chromosome

Chromosomal Location

16139689-16579509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16575646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1079 (S1079T)

Ref Sequence

ENSEMBL: ENSMUSP00000136260 (fasta)

Gene Model

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

AlphaFold

O08532

Predicted Effect

probably benign
Transcript: ENSMUST00000039370
AA Change: S1096T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: S1096T

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
AA Change: S1077T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: S1077T

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
AA Change: S1084T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: S1084T

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
AA Change: S1079T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: S1079T

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
AA Change: S1084T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: S1084T

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
AA Change: S1079T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: S1079T

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
AA Change: S1072T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: S1072T

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

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cstb	T	C	10: 78,262,779 (GRCm39)	S29P	probably benign	Het
Eif1ad13	A	T	12: 87,762,578 (GRCm39)	E99D	possibly damaging	Het
F8	T	A	X: 74,330,224 (GRCm39)	D1222V	probably damaging	Het
Fcgbpl1	A	T	7: 27,839,203 (GRCm39)	S339C	probably damaging	Het
Gal3st1	A	G	11: 3,948,564 (GRCm39)	E257G	probably damaging	Het
Gm5424	T	C	10: 61,907,863 (GRCm39)		noncoding transcript	Het
Ikbke	A	T	1: 131,193,384 (GRCm39)	D515E	possibly damaging	Het
Irag1	C	T	7: 110,545,174 (GRCm39)	A41T	possibly damaging	Het
Or51b6	A	G	7: 103,555,669 (GRCm39)	I5V	probably benign	Het
Or5d43	A	C	2: 88,105,060 (GRCm39)	F111C	probably damaging	Het
Or6c209	T	G	10: 129,483,243 (GRCm39)	L82R	possibly damaging	Het
Plekhg3	A	T	12: 76,609,052 (GRCm39)	I142L	possibly damaging	Het
Tet1	G	A	10: 62,715,252 (GRCm39)	T181I	probably damaging	Het
Tfcp2l1	T	C	1: 118,580,612 (GRCm39)	V102A	possibly 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
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
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

2013-06-21