Mutagenetix > Incidental Mutations

Incidental Mutation 'R1753:Cacna2d1'

193721

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

039785-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.385) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15934691-16374511 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16302354 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 367 (E367G)

Ref Sequence

ENSEMBL: ENSMUSP00000142881 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039370
AA Change: E367G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: E367G

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

possibly damaging
Transcript: ENSMUST00000078272
AA Change: E367G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: E367G

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

possibly damaging
Transcript: ENSMUST00000101581
AA Change: E367G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: E367G

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: E367G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: E367G

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

possibly damaging
Transcript: ENSMUST00000167946
AA Change: E367G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: E367G

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: E367G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: E367G

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

possibly damaging
Transcript: ENSMUST00000199704
AA Change: E367G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: E367G

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,973,716	F409I	probably benign	Het
Adamts19	A	C	18: 59,007,372	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,899,352	S306G	probably damaging	Het
Adamts8	T	G	9: 30,954,614	I486S	probably benign	Het
Adgrg5	T	C	8: 94,942,052	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,577,135	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241		probably null	Het
Arhgap31	A	G	16: 38,601,612	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,094,833	R10G	possibly damaging	Het
Ccdc81	C	T	7: 89,866,561	E637K	probably benign	Het
Cd2	A	T	3: 101,287,499	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,764,688	Y157*	probably null	Het
Celsr3	G	T	9: 108,831,857	V1301F	probably damaging	Het
Cep164	C	T	9: 45,792,937	G961S	probably damaging	Het
Cep290	T	C	10: 100,513,981	V630A	probably benign	Het
Chd5	C	T	4: 152,378,815	S1451F	probably damaging	Het
Cldn23	A	C	8: 35,825,986	L116R	possibly damaging	Het
Cngb1	A	T	8: 95,297,773		probably benign	Het
Cpb1	G	T	3: 20,266,241	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,260,100	F261S	probably damaging	Het
Crlf3	A	C	11: 80,057,872	V249G	probably damaging	Het
Csmd1	A	T	8: 16,157,120	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,083,685	P207Q	possibly damaging	Het
Cym	A	C	3: 107,213,425	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,121,432		probably null	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Dnah7b	T	C	1: 46,322,335	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,873,342	M181L	possibly damaging	Het
Duox1	T	A	2: 122,333,429	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,192,940	S13T	probably benign	Het
Ercc6	T	C	14: 32,576,999	V1448A	probably benign	Het
Esp24	A	G	17: 39,040,002	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,701,461	M338K	probably benign	Het
Fgfbp1	A	C	5: 43,979,923	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,940,616	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,346,578	C372W	probably damaging	Het
Grn	T	G	11: 102,433,267	C61G	probably damaging	Het
Herc1	T	G	9: 66,469,010	C3371G	probably damaging	Het
Herc1	T	C	9: 66,502,084		probably null	Het
Hmcn1	C	T	1: 150,586,468	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,456,635	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,593,860	H399L	probably benign	Het
Irx3	G	A	8: 91,800,734	P114L	probably damaging	Het
Kat6a	T	A	8: 22,935,797	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,843,482		probably benign	Het
Kng1	A	T	16: 23,079,119	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,496,489	Q1746L	possibly damaging	Het
Lrrc29	A	T	8: 105,313,192	V517E	probably damaging	Het
Lrrc63	A	T	14: 75,086,344		probably null	Het
Mad2l1	T	A	6: 66,539,813	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,822,680	M978T	probably benign	Het
Mon1a	A	C	9: 107,901,363	N262T	probably damaging	Het
Mpo	A	G	11: 87,795,881	N85D	probably benign	Het
Mpp4	T	C	1: 59,144,810	D244G	probably null	Het
Mstn	A	G	1: 53,066,558	Y353C	probably damaging	Het
Mx1	T	A	16: 97,454,158	N232Y	probably damaging	Het
Mycs	T	C	X: 5,468,103	R308G	probably benign	Het
Myh11	A	T	16: 14,277,870	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,433,412	Q169L	probably null	Het
Nr5a1	G	T	2: 38,708,419	T122N	possibly damaging	Het
Nras	A	G	3: 103,058,979	T20A	probably damaging	Het
Obp2b	T	A	2: 25,738,640		probably null	Het
Olfr1109	T	C	2: 87,093,227	T57A	probably damaging	Het
Olfr1143	T	A	2: 87,802,762	F124L	probably benign	Het
Olfr1410	G	A	1: 92,608,400	V188M	probably benign	Het
Olfr365	A	G	2: 37,201,427	Y62C	probably damaging	Het
Olfr577	T	C	7: 102,973,056	N312S	probably benign	Het
Pcdh17	A	T	14: 84,477,654	T920S	probably benign	Het
Pcdh9	T	C	14: 93,887,225	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,436,671	T290I	probably damaging	Het
Pde6b	C	A	5: 108,388,691	C84*	probably null	Het
Pex1	A	T	5: 3,630,044	N914I	probably damaging	Het
Pign	A	G	1: 105,589,317	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,533,905	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,342,631	K489E	probably damaging	Het
Prob1	T	C	18: 35,653,252	T650A	possibly damaging	Het
Radil	T	C	5: 142,495,336	Y572C	probably damaging	Het
Rapgef2	A	G	3: 79,088,791	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,682,817		probably null	Het
Rnaset2b	G	A	17: 6,981,107		probably null	Het
S1pr1	A	G	3: 115,711,938	S336P	probably benign	Het
Slc24a5	A	G	2: 125,083,195	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,061,391	I184F	probably benign	Het
Slc35a3	A	G	3: 116,677,948	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,677,202	H211R	probably damaging	Het
Slu7	A	G	11: 43,439,268	N174S	probably benign	Het
Smarcd3	A	T	5: 24,595,822	Y131*	probably null	Het
Syne1	A	G	10: 5,367,621	M491T	probably benign	Het
Tars	G	A	15: 11,394,243	Q103*	probably null	Het
Tmem132d	C	A	5: 127,789,855	E660D	probably benign	Het
Ttn	T	A	2: 76,752,261	M22763L	probably benign	Het
Ttn	T	C	2: 76,812,972	E13201G	probably damaging	Het
Ttn	T	C	2: 76,745,043	T16842A	probably damaging	Het
Ubp1	A	T	9: 113,955,969	I117L	possibly damaging	Het
Usp24	T	A	4: 106,377,559	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,754,197	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,928,245	Q290*	probably null	Het
Vnn3	T	C	10: 23,865,820	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,305,744	T46A	probably damaging	Het
Wdr48	G	T	9: 119,924,247	E625*	probably null	Het
Wdr6	C	T	9: 108,575,164	V507I	probably damaging	Het
Zp2	A	T	7: 120,138,105	W287R	probably benign	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
R1673:Cacna2d1	UTSW	5	16299990	missense	probably damaging	1.00
R1750:Cacna2d1	UTSW	5	16264288	missense	probably benign	0.01
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'- GCTACCCCTTGCCTGATCATCAAAC -3'
(R):5'- TGCCCATGAAGTGCTGCAAACC -3'

Sequencing Primer
(F):5'- TTTTAGAACACACTACTGAGCAGAC -3'
(R):5'- TGATTAGGAGACATCGCTCAC -3'

Posted On

2014-05-23