Mutagenetix > Incidental Mutations

Incidental Mutation 'R1673:Cacna2d1'

187794

Institutional Source

Beutler Lab

Gene Symbol

Cacna2d1

Ensembl Gene

ENSMUSG00000040118

Gene Name

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

Synonyms

Ca(v)alpha2delta1, Cacna2, Cchl2a

MMRRC Submission

039709-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R1673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15934691-16374511 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16299990 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 314 (N314I)

Ref Sequence

ENSEMBL: ENSMUSP00000142881 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039370
AA Change: N314I

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

SMART Domains

Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: N314I

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: N314I

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

SMART Domains

Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: N314I

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: N314I

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

SMART Domains

Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: N314I

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 damaging
Transcript: ENSMUST00000115281
AA Change: N314I

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

SMART Domains

Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: N314I

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: N314I

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

SMART Domains

Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: N314I

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 damaging
Transcript: ENSMUST00000180204
AA Change: N314I

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

SMART Domains

Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: N314I

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: N314I

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

SMART Domains

Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: N314I

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,212,339	S809G	probably benign	Het
Ap4b1	T	A	3: 103,817,845		probably null	Het
Aqp12	A	G	1: 93,006,884	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 59,791,240	I926T	probably benign	Het
Cd209d	A	G	8: 3,877,113	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,178,021	K554*	probably null	Het
Celsr1	A	G	15: 85,932,457	Y1762H	probably benign	Het
Cklf	A	G	8: 104,257,351	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,693,538	I755L	probably benign	Het
Cts3	G	A	13: 61,567,554	Q140*	probably null	Het
Ddx1	A	T	12: 13,244,966		probably null	Het
Dnah3	C	A	7: 119,971,179	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,148	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,331,504	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,151,853	F25L	probably damaging	Het
Efhd1	T	A	1: 87,264,682	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,793,818		probably null	Het
Elp2	T	A	18: 24,611,926	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,910,196		probably null	Het
F5	A	G	1: 164,179,520	T298A	probably damaging	Het
Fam208b	A	G	13: 3,584,498		probably null	Het
Fbxo21	G	T	5: 118,008,064	R584L	probably benign	Het
Fbxw22	G	T	9: 109,382,128	F368L	possibly damaging	Het
Gcn1l1	T	C	5: 115,582,297	I409T	probably benign	Het
Gm10260	A	T	13: 97,760,360	Y77N	possibly damaging	Het
Gm12887	T	C	4: 121,616,458	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637	Q224*	probably null	Het
Hdac5	C	T	11: 102,198,805	V860M	probably damaging	Het
Ino80	G	A	2: 119,381,936	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,820	I110F	probably damaging	Het
Lrig3	A	G	10: 126,010,167	T822A	probably damaging	Het
Mapk6	T	C	9: 75,395,569	D214G	probably damaging	Het
Mcm2	A	T	6: 88,892,078	L264Q	probably benign	Het
Mpnd	A	T	17: 56,010,455	Y64F	probably damaging	Het
Muc1	T	A	3: 89,231,772	M520K	possibly damaging	Het
Muc4	T	A	16: 32,756,902	S189T	probably benign	Het
Myh13	T	C	11: 67,352,119	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,830,479	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,695	I116T	probably damaging	Het
Nptn	T	C	9: 58,623,732	L46P	probably benign	Het
Olfr11	A	T	13: 21,639,044	S160T	probably damaging	Het
Olfr1283	A	G	2: 111,369,207	T192A	probably benign	Het
Olfr290	T	A	7: 84,916,117	F113I	probably damaging	Het
Olfr610	C	A	7: 103,506,689	V86F	probably damaging	Het
Pgr	A	T	9: 8,902,068	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,872,282		probably null	Het
Pkd1l2	C	G	8: 117,040,775	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,249,565	E457G	probably damaging	Het
Rasa4	T	A	5: 136,104,637	V650D	probably benign	Het
Rem2	C	T	14: 54,476,309		probably benign	Het
Sdc1	G	A	12: 8,790,409	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,948,506	E366G	possibly damaging	Het
Setd2	T	A	9: 110,604,180	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,813,383	V397A	probably benign	Het
Slc36a2	A	T	11: 55,184,913	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468	V334A	probably benign	Het
Sox8	A	T	17: 25,567,482	Y416N	possibly damaging	Het
Speg	T	C	1: 75,411,163	V1416A	possibly damaging	Het
Stk24	T	A	14: 121,337,571	I42F	probably damaging	Het
Tcerg1	T	A	18: 42,552,581	L661Q	possibly damaging	Het
Tmem110	T	C	14: 30,864,434	L72S	possibly damaging	Het
Tpp1	G	A	7: 105,747,673	R417W	probably damaging	Het
Trim12a	T	A	7: 104,306,057	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,942,944	N396S	probably benign	Het
Ttn	T	C	2: 76,807,083	K5695R	probably damaging	Het
Ttn	G	A	2: 76,810,287	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,333,943		probably null	Het
Uaca	T	A	9: 60,872,156	L1273H	probably damaging	Het
Usp33	A	G	3: 152,368,282	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,616,211		probably null	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,446,354	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 34,896,308		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 34,896,310		probably null	Het
Zfp408	G	A	2: 91,646,008	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,588,493	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,347,653	T638A	probably benign	Het
Zfp932	G	T	5: 110,008,988	G151V	probably damaging	Het
Zpbp	T	C	11: 11,352,696	K320E	probably damaging	Het
Zranb2	C	T	3: 157,537,640	P91L	probably damaging	Het

Other mutations in Cacna2d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Cacna2d1	APN	5	16212944	missense	probably damaging	1.00
IGL00470:Cacna2d1	APN	5	16246656	splice site	probably benign
IGL00495:Cacna2d1	APN	5	16370609	missense	probably benign	0.05
IGL00538:Cacna2d1	APN	5	16246785	nonsense	probably null
IGL00990:Cacna2d1	APN	5	15935069	missense	probably benign	0.23
IGL01079:Cacna2d1	APN	5	16370648	missense	probably benign	0.03
IGL01344:Cacna2d1	APN	5	16370631	missense	probably benign	0.26
IGL01597:Cacna2d1	APN	5	16326392	splice site	probably benign
IGL01645:Cacna2d1	APN	5	16012391	splice site	probably null
IGL01959:Cacna2d1	APN	5	16212897	missense	probably benign	0.00
IGL02397:Cacna2d1	APN	5	16320164	splice site	probably benign
IGL03152:Cacna2d1	APN	5	16322568	missense	probably benign	0.00
IGL03216:Cacna2d1	APN	5	16353842	missense	probably damaging	0.98
IGL03374:Cacna2d1	APN	5	16356823	missense	probably damaging	0.99
PIT4283001:Cacna2d1	UTSW	5	16302294	missense	probably benign	0.31
PIT4585001:Cacna2d1	UTSW	5	16326344	missense	probably damaging	1.00
R0158:Cacna2d1	UTSW	5	16361817	splice site	probably benign
R0457:Cacna2d1	UTSW	5	16267416	missense	probably damaging	1.00
R0477:Cacna2d1	UTSW	5	16194798	critical splice donor site	probably null
R0483:Cacna2d1	UTSW	5	16359027	missense	probably damaging	0.98
R0532:Cacna2d1	UTSW	5	16362273	missense	probably benign	0.13
R0552:Cacna2d1	UTSW	5	16328043	missense	probably damaging	1.00
R0924:Cacna2d1	UTSW	5	16365862	missense	possibly damaging	0.79
R0930:Cacna2d1	UTSW	5	16365862	missense	possibly damaging	0.79
R1144:Cacna2d1	UTSW	5	16322597	critical splice donor site	probably null
R1164:Cacna2d1	UTSW	5	16361876	critical splice donor site	probably null
R1398:Cacna2d1	UTSW	5	16357766	missense	possibly damaging	0.47
R1440:Cacna2d1	UTSW	5	16355495	missense	probably damaging	1.00
R1543:Cacna2d1	UTSW	5	16266718	missense	possibly damaging	0.62
R1573:Cacna2d1	UTSW	5	16370627	missense	probably damaging	1.00
R1633:Cacna2d1	UTSW	5	16320116	missense	probably damaging	1.00
R1750:Cacna2d1	UTSW	5	16264288	missense	probably benign	0.01
R1753:Cacna2d1	UTSW	5	16302354	missense	possibly damaging	0.95
R1966:Cacna2d1	UTSW	5	16333785	nonsense	probably null
R2163:Cacna2d1	UTSW	5	16362319	missense	probably damaging	1.00
R2258:Cacna2d1	UTSW	5	16357289	missense	probably damaging	1.00
R2870:Cacna2d1	UTSW	5	16312568	missense	probably damaging	1.00
R2870:Cacna2d1	UTSW	5	16312568	missense	probably damaging	1.00
R4303:Cacna2d1	UTSW	5	16302248	splice site	probably null
R4804:Cacna2d1	UTSW	5	16359208	missense	probably damaging	0.97
R5032:Cacna2d1	UTSW	5	16359070	missense	probably damaging	1.00
R5080:Cacna2d1	UTSW	5	16362396	critical splice donor site	probably null
R5466:Cacna2d1	UTSW	5	16246714	missense	probably damaging	1.00
R5469:Cacna2d1	UTSW	5	16352678	missense	probably damaging	0.99
R5564:Cacna2d1	UTSW	5	16312519	missense	probably damaging	1.00
R5655:Cacna2d1	UTSW	5	16302335	missense	probably damaging	1.00
R5688:Cacna2d1	UTSW	5	16358952	missense	probably damaging	0.99
R5729:Cacna2d1	UTSW	5	15935039	nonsense	probably null
R6005:Cacna2d1	UTSW	5	16361821	missense	probably damaging	1.00
R6343:Cacna2d1	UTSW	5	16322564	missense	probably benign	0.09
R6485:Cacna2d1	UTSW	5	16354657	missense	probably damaging	1.00
R6486:Cacna2d1	UTSW	5	16319450	splice site	probably null
R6625:Cacna2d1	UTSW	5	16362393	missense	probably null	1.00
R6700:Cacna2d1	UTSW	5	16365460	missense	probably damaging	1.00
R6706:Cacna2d1	UTSW	5	16326340	missense	probably damaging	1.00
R6711:Cacna2d1	UTSW	5	16300041	missense	probably damaging	1.00
R7025:Cacna2d1	UTSW	5	16352668	nonsense	probably null
R7035:Cacna2d1	UTSW	5	16246672	missense	probably damaging	1.00
R7086:Cacna2d1	UTSW	5	16349416	missense	probably damaging	1.00
R7110:Cacna2d1	UTSW	5	16357784	missense	probably damaging	0.99
R7268:Cacna2d1	UTSW	5	16370588	missense	probably damaging	0.99
R7310:Cacna2d1	UTSW	5	16314916	missense	probably damaging	1.00
R7471:Cacna2d1	UTSW	5	15934975	start gained	probably benign
R7608:Cacna2d1	UTSW	5	16359024	missense	probably damaging	1.00
R7712:Cacna2d1	UTSW	5	16362349	missense	probably damaging	0.98
R8014:Cacna2d1	UTSW	5	16342691	missense	possibly damaging	0.55
R8161:Cacna2d1	UTSW	5	16314937	missense	probably damaging	1.00
RF024:Cacna2d1	UTSW	5	16025776	missense	possibly damaging	0.80
Z1088:Cacna2d1	UTSW	5	16194763	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CGAGCCCTTTCTGGTGAGTAACAG -3'
(R):5'- CCGCAAATTTCAATGGTGGGCAG -3'

Sequencing Primer
(F):5'- TGTGTCCTGAGCAAGCATATC -3'
(R):5'- TAGCTGTTCGAAGGCAAAGC -3'

Posted On

2014-05-09