Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03216:Cacna2d1'

413485

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 #

IGL03216

Quality Score

Status

Chromosome

Chromosomal Location

16139689-16579509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16558840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 709 (F709L)

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 damaging
Transcript: ENSMUST00000039370
AA Change: F733L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: F733L

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 damaging
Transcript: ENSMUST00000078272
AA Change: F714L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: F714L

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 damaging
Transcript: ENSMUST00000101581
AA Change: F721L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: F721L

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

possibly damaging
Transcript: ENSMUST00000115281
AA Change: F716L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: F716L

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 damaging
Transcript: ENSMUST00000167946
AA Change: F721L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: F721L

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

possibly damaging
Transcript: ENSMUST00000180204
AA Change: F716L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: F716L

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 damaging
Transcript: ENSMUST00000199704
AA Change: F709L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: F709L

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	T	9: 122,086,127 (GRCm39)	Y491N	probably damaging	Het
Cadps	A	G	14: 12,439,944 (GRCm38)	I1196T	probably damaging	Het
Cage1	T	C	13: 38,190,153 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,736,373 (GRCm39)	C2888S	probably benign	Het
Cfap52	T	C	11: 67,844,932 (GRCm39)	T46A	possibly damaging	Het
Cyp2d26	T	C	15: 82,677,462 (GRCm39)	M76V	probably benign	Het
Fermt3	A	T	19: 6,976,748 (GRCm39)	D653E	probably benign	Het
Foxj3	A	G	4: 119,467,180 (GRCm39)		probably benign	Het
Gm21985	T	A	2: 112,097,281 (GRCm39)	S39T	probably damaging	Het
Herc1	A	T	9: 66,386,228 (GRCm39)	D3727V	probably benign	Het
Ifi208	A	T	1: 173,506,507 (GRCm39)	T97S	possibly damaging	Het
Iqgap1	T	C	7: 80,392,836 (GRCm39)	E709G	probably benign	Het
Itgb5	T	A	16: 33,723,208 (GRCm39)	H361Q	probably benign	Het
Mr1	T	A	1: 155,005,035 (GRCm39)	N335I	possibly damaging	Het
Nadsyn1	A	T	7: 143,351,582 (GRCm39)	F684I	probably damaging	Het
Nf1	A	T	11: 79,455,721 (GRCm39)	I2544F	probably benign	Het
Or6c1b	A	G	10: 129,272,806 (GRCm39)	T42A	probably damaging	Het
Pnp2	T	G	14: 51,200,654 (GRCm39)	S107A	probably benign	Het
Pomt1	A	G	2: 32,132,955 (GRCm39)	I184V	probably damaging	Het
Slc6a19	T	G	13: 73,834,300 (GRCm39)	M301L	probably benign	Het
Smarca5	T	C	8: 81,446,287 (GRCm39)	Y471C	probably damaging	Het
Syne2	A	T	12: 75,989,735 (GRCm39)		probably benign	Het
Tasor2	C	T	13: 3,624,553 (GRCm39)	C1799Y	probably damaging	Het
Tex55	T	C	16: 38,649,052 (GRCm39)	D19G	possibly damaging	Het
Trmt6	T	C	2: 132,650,618 (GRCm39)	N330S	probably null	Het
Tsc22d1	T	C	14: 76,656,077 (GRCm39)	V770A	probably benign	Het
Ttll6	A	G	11: 96,042,840 (GRCm39)	D462G	probably benign	Het
Ttn	T	C	2: 76,775,393 (GRCm39)	H1883R	probably damaging	Het
Ubxn10	C	T	4: 138,448,050 (GRCm39)	V209M	probably damaging	Het
Urb1	T	C	16: 90,585,002 (GRCm39)	T540A	probably benign	Het
Vmn2r17	A	T	5: 109,600,756 (GRCm39)	R685W	probably damaging	Het
Vps4a	C	T	8: 107,763,335 (GRCm39)	R30C	probably damaging	Het
Xpo6	A	G	7: 125,703,985 (GRCm39)	V1055A	probably damaging	Het
Zfp445	C	T	9: 122,681,043 (GRCm39)	C966Y	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
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
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

2016-08-02