Mutagenetix > Incidental Mutations

Incidental Mutation 'R5469:Cacna2d1'

501081

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

043030-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15934691-16374511 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16352678 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 702 (I702N)

Ref Sequence

ENSEMBL: ENSMUSP00000142881 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039370
AA Change: I726N

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049457
Gene: ENSMUSG00000040118
AA Change: I726N

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: I707N

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000077391
Gene: ENSMUSG00000040118
AA Change: I707N

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: I714N

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099117
Gene: ENSMUSG00000040118
AA Change: I714N

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: I709N

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110936
Gene: ENSMUSG00000040118
AA Change: I709N

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: I714N

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131507
Gene: ENSMUSG00000040118
AA Change: I714N

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: I709N

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136260
Gene: ENSMUSG00000040118
AA Change: I709N

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: I702N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142881
Gene: ENSMUSG00000040118
AA Change: I702N

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: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Allc	A	T	12: 28,555,306	N331K	probably benign	Het
Anapc1	G	T	2: 128,675,701	S341*	probably null	Het
Cacna1e	T	C	1: 154,443,937	E1339G	probably damaging	Het
Casp2	C	A	6: 42,269,334	H209N	probably benign	Het
Casr	A	G	16: 36,510,030	V314A	probably benign	Het
Ccne2	A	T	4: 11,201,353	R294*	probably null	Het
Cd180	T	A	13: 102,704,834	H129Q	probably benign	Het
Chst10	A	T	1: 38,865,527	Y362N	probably damaging	Het
Ctnna1	T	A	18: 35,239,520	D509E	probably benign	Het
Ctsh	G	T	9: 90,060,511		probably null	Het
Dhx29	C	T	13: 112,944,539	A369V	possibly damaging	Het
Enox1	A	G	14: 77,592,974	T340A	probably benign	Het
Fam135b	T	A	15: 71,446,043	T1357S	probably benign	Het
Flt3	A	T	5: 147,355,083	S544T	possibly damaging	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Gsap	A	T	5: 21,290,544	Y831F	possibly damaging	Het
Hnrnpr	C	T	4: 136,319,434	T142M	probably damaging	Het
Jak3	A	G	8: 71,678,773	D94G	probably benign	Het
Ktn1	A	T	14: 47,690,920	E579D	probably damaging	Het
Lama2	G	A	10: 27,041,189	P2247S	possibly damaging	Het
Lrba	C	T	3: 86,542,641	S2089F	probably damaging	Het
Map1b	C	T	13: 99,429,338	V2292M	unknown	Het
Mphosph10	A	T	7: 64,389,445		probably null	Het
Pappa	C	T	4: 65,205,152	T908M	probably benign	Het
Pdcd10	T	A	3: 75,521,057	K150*	probably null	Het
Piezo2	A	T	18: 63,027,864	I2275N	probably damaging	Het
Pmvk	T	C	3: 89,467,682		probably null	Het
Pold2	G	A	11: 5,873,048	P376S	probably damaging	Het
Prtg	A	T	9: 72,891,965	Q759L	probably damaging	Het
Rad51ap1	C	T	6: 126,928,227	S107N	probably damaging	Het
Rfk	T	A	19: 17,395,202	N29K	probably damaging	Het
Ror2	T	C	13: 53,117,339	M315V	probably benign	Het
Rrn3	A	G	16: 13,813,100	E600G	probably benign	Het
Ryk	A	G	9: 102,906,954	Y593C	possibly damaging	Het
Slc30a3	T	A	5: 31,088,660	D193V	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Srbd1	C	A	17: 86,119,942	C421F	possibly damaging	Het
Sstr5	A	C	17: 25,492,069	V62G	probably damaging	Het
Tfip11	G	A	5: 112,334,325	W483*	probably null	Het
Tlk1	T	C	2: 70,721,668	H553R	probably benign	Het
Tnc	T	C	4: 64,013,925		probably null	Het
Trav12-1	A	G	14: 53,538,473	T27A	probably damaging	Het
Usp9y	G	A	Y: 1,364,714	T1033I	probably benign	Het
V1ra8	C	T	6: 90,203,204	H130Y	probably benign	Het
Vmn2r77	A	T	7: 86,802,063	M386L	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
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
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'- ACATTTTCTCTTAGTACTGACTGGC -3'
(R):5'- CTGGGTTACACTCACAACTGAAAATG -3'

Sequencing Primer
(F):5'- TCATGTCCACAATAAGTAAGACAAG -3'
(R):5'- GCAACTTATCAACAATTGCTAACGTG -3'

Posted On

2017-12-01