Mutagenetix > Incidental Mutation

Incidental Mutation 'R1467:Cacna2d3'

164614

Institutional Source

Beutler Lab

Gene Symbol

Cacna2d3

Ensembl Gene

ENSMUSG00000021991

Gene Name

calcium channel, voltage-dependent, alpha2/delta subunit 3

Synonyms

alpha2delta3, alpha 2 delta-3

MMRRC Submission

039520-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1467 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28904943-29721864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29333779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 298 (N298S)

Ref Sequence

ENSEMBL: ENSMUSP00000022567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022567] [ENSMUST00000225733] [ENSMUST00000225863]

AlphaFold

Q9Z1L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022567
AA Change: N298S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: N298S

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
Blast:WNT1	28	103	2e-33	BLAST
Pfam:VWA_N	113	229	6.8e-40	PFAM
VWA	254	439	4.13e-24	SMART
Pfam:Cache_1	452	548	3e-32	PFAM
low complexity region	1070	1088	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000225733
AA Change: N32S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225863
AA Change: N32S

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226048

Meta Mutation Damage Score

0.1209

Coding Region Coverage

1x: 99.6%
3x: 98.1%
10x: 88.5%
20x: 62.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have a decreased startle reflex and occasional animals show increased aggression and hyperactivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,295,463	V9L	possibly damaging	Het
4932438A13Rik	T	A	3: 37,035,945	V676D	probably damaging	Het
A630010A05Rik	C	A	16: 14,618,583	L167I	possibly damaging	Het
Abca14	A	T	7: 120,216,182	M218L	possibly damaging	Het
Abca15	C	A	7: 120,340,538		probably null	Het
Acod1	T	C	14: 103,054,567	F176L	probably benign	Het
Actr5	A	G	2: 158,638,697	H545R	probably benign	Het
Adcy1	A	G	11: 7,138,396	T472A	probably damaging	Het
AI314180	A	G	4: 58,832,753	V869A	probably benign	Het
Aldh1l1	A	G	6: 90,571,928	K469R	possibly damaging	Het
Ambra1	A	T	2: 91,885,703	Q853L	probably damaging	Het
Apol7e	G	T	15: 77,717,766	G188V	probably damaging	Het
AU018091	A	T	7: 3,164,259	W43R	probably benign	Het
Baat	A	G	4: 49,503,101	V7A	probably benign	Het
Bcas1	C	A	2: 170,387,932	Q249H	possibly damaging	Het
Bptf	G	T	11: 107,055,055	Q2453K	possibly damaging	Het
Btg3	A	G	16: 78,364,800		probably null	Het
Carf	G	A	1: 60,127,993	V127I	possibly damaging	Het
Catsperg1	T	C	7: 29,185,008	S916G	probably damaging	Het
Cers1	T	C	8: 70,323,169	S274P	possibly damaging	Het
Ces4a	T	A	8: 105,138,035	V48E	possibly damaging	Het
Cfap54	T	A	10: 92,969,763	H1495L	probably benign	Het
Cntnap5a	T	A	1: 115,685,168	L11*	probably null	Het
Cr2	C	T	1: 195,157,509	G913R	probably damaging	Het
Cul9	A	G	17: 46,525,373	L1155P	probably damaging	Het
Dlec1	A	T	9: 119,142,578	D1278V	probably damaging	Het
Dmrt2	A	G	19: 25,673,606	E52G	possibly damaging	Het
Dsp	A	G	13: 38,192,712	K1491R	probably benign	Het
Eef1d	A	T	15: 75,895,921	D206E	probably damaging	Het
Erbb2	C	T	11: 98,436,175	Q1137*	probably null	Het
Ercc2	T	A	7: 19,385,886	D157E	probably benign	Het
Eri1	A	G	8: 35,469,130	*346Q	probably null	Het
Espl1	A	G	15: 102,319,858	E1689G	probably benign	Het
Fam35a	G	T	14: 34,268,662	H96N	possibly damaging	Het
Fap	C	T	2: 62,517,620	V539I	probably benign	Het
Fasn	A	G	11: 120,811,040	F1871S	probably benign	Het
Gabpb1	T	G	2: 126,652,327	Y126S	probably damaging	Het
Gm8879	C	T	5: 11,130,370	H82Y	probably damaging	Het
Grm1	T	C	10: 10,719,958	Y642C	probably damaging	Het
Heatr4	T	C	12: 83,978,067	T327A	possibly damaging	Het
Hmbox1	T	C	14: 64,861,578	D212G	possibly damaging	Het
Hmcn1	T	A	1: 150,689,590	D2262V	probably damaging	Het
Hoxb9	A	G	11: 96,271,938	T133A	probably benign	Het
Insr	A	T	8: 3,169,720	V934E	probably damaging	Het
Ipo9	T	C	1: 135,406,543	E315G	possibly damaging	Het
Itga10	C	T	3: 96,652,229	Q481*	probably null	Het
Kntc1	T	A	5: 123,786,984	M1120K	probably benign	Het
Krt78	A	G	15: 101,946,293	Y1028H	possibly damaging	Het
Lrrc38	A	T	4: 143,369,880	I254F	probably damaging	Het
Lyrm7	A	G	11: 54,850,389	F40L	probably damaging	Het
Mfsd4b1	C	T	10: 40,002,635	S422N	possibly damaging	Het
Mlh3	A	T	12: 85,237,600	L1380*	probably null	Het
Mrpl24	C	A	3: 87,922,437	A110D	probably benign	Het
Mrps14	T	C	1: 160,196,950	V17A	probably benign	Het
Mtcl1	T	C	17: 66,448,327	D340G	probably damaging	Het
Neb	T	C	2: 52,230,047	Y3900C	probably damaging	Het
Neurod4	T	C	10: 130,270,604	D267G	probably benign	Het
Nf1	A	T	11: 79,428,626	I536F	possibly damaging	Het
Nkg7	C	T	7: 43,437,433	P44S	probably damaging	Het
Olfr1200	T	C	2: 88,767,488	I276V	probably benign	Het
Olfr293	T	C	7: 86,663,977	V105A	possibly damaging	Het
Pcif1	T	C	2: 164,889,138	Y404H	probably benign	Het
Pcnx2	A	T	8: 125,753,550	L2006Q	possibly damaging	Het
Pcnx3	A	T	19: 5,674,894	S821T	possibly damaging	Het
Pde8b	T	A	13: 95,034,172	D662V	probably damaging	Het
Pkd1l3	C	T	8: 109,616,368	P113S	unknown	Het
Pkd2l1	G	T	19: 44,154,209	Q465K	possibly damaging	Het
Plch2	G	T	4: 154,983,732	P1479Q	probably benign	Het
Plekhm3	A	T	1: 64,892,882	I521N	probably damaging	Het
Pola2	A	T	19: 5,942,065	Y526*	probably null	Het
Prss23	T	C	7: 89,510,009	D284G	probably damaging	Het
Psme2b	A	G	11: 48,945,640	F160S	probably damaging	Het
Rap1gap2	A	G	11: 74,437,027	V139A	possibly damaging	Het
Rbbp9	G	T	2: 144,543,857	R163S	possibly damaging	Het
Rdh12	T	C	12: 79,213,748	L206P	probably damaging	Het
Rhou	T	C	8: 123,661,290	W254R	possibly damaging	Het
Scfd1	A	G	12: 51,431,498	K498E	possibly damaging	Het
Scn7a	A	G	2: 66,689,558	Y1001H	probably benign	Het
Setx	T	A	2: 29,158,905	V1981E	probably damaging	Het
Sfxn1	T	C	13: 54,093,871	I205T	possibly damaging	Het
Spock1	G	A	13: 57,429,369	R416C	possibly damaging	Het
Spred2	A	G	11: 20,018,109	I222V	probably benign	Het
Stkld1	A	T	2: 26,949,395	T358S	probably benign	Het
Strip1	T	C	3: 107,627,408	E102G	possibly damaging	Het
Tarsl2	T	C	7: 65,655,696	S223P	probably damaging	Het
Tdpoz1	T	A	3: 93,671,330	E49V	probably benign	Het
Tert	A	G	13: 73,628,209	T360A	probably benign	Het
Tspear	A	G	10: 77,881,192	Y567C	probably damaging	Het
Ttc28	A	G	5: 111,285,388	Q2096R	probably benign	Het
Ugt2b38	T	G	5: 87,412,373	N361H	probably damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn2r111	T	A	17: 22,571,047	H326L	probably damaging	Het
Vmn2r18	A	G	5: 151,586,836	F24S	possibly damaging	Het
Vmn2r82	A	T	10: 79,396,299	I711F	probably benign	Het
Vwa8	C	T	14: 79,103,694	Q1537*	probably null	Het
Wdr64	G	A	1: 175,775,722	V630I	probably benign	Het
Wnt6	G	T	1: 74,782,275	W84L	probably damaging	Het
Zfp11	C	A	5: 129,658,190	R69L	probably benign	Het

Other mutations in Cacna2d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Cacna2d3	APN	14	29300731	splice site	probably benign
IGL01150:Cacna2d3	APN	14	29183641	missense	possibly damaging	0.95
IGL01390:Cacna2d3	APN	14	28943591	missense	possibly damaging	0.91
IGL01626:Cacna2d3	APN	14	28943607	missense	possibly damaging	0.90
IGL02127:Cacna2d3	APN	14	29063875	unclassified	probably benign
IGL02237:Cacna2d3	APN	14	29346997	missense	probably benign	0.09
IGL02274:Cacna2d3	APN	14	28956870	splice site	probably null
IGL02604:Cacna2d3	APN	14	29293109	missense	possibly damaging	0.61
IGL02806:Cacna2d3	APN	14	29351950	splice site	probably null
IGL02838:Cacna2d3	APN	14	29300828	critical splice acceptor site	probably null
IGL02894:Cacna2d3	APN	14	29064319	critical splice acceptor site	probably null
IGL03061:Cacna2d3	APN	14	29058431	missense	probably damaging	0.98
IGL03117:Cacna2d3	APN	14	29467952	missense	probably damaging	1.00
IGL03265:Cacna2d3	APN	14	28952286	missense	probably damaging	0.98
IGL03266:Cacna2d3	APN	14	29300748	missense	probably benign	0.01
IGL03396:Cacna2d3	APN	14	29720877	nonsense	probably null
R0094:Cacna2d3	UTSW	14	29170503	critical splice donor site	probably null
R0326:Cacna2d3	UTSW	14	29045644	missense	probably damaging	0.96
R0485:Cacna2d3	UTSW	14	29534519	missense	possibly damaging	0.89
R0669:Cacna2d3	UTSW	14	29467949	missense	probably benign	0.40
R0730:Cacna2d3	UTSW	14	28982365	missense	probably benign	0.02
R0736:Cacna2d3	UTSW	14	29058628	missense	probably benign	0.02
R1073:Cacna2d3	UTSW	14	29045623	missense	probably damaging	0.99
R1116:Cacna2d3	UTSW	14	29064321	splice site	probably benign
R1312:Cacna2d3	UTSW	14	29045668	missense	probably benign	0.00
R1467:Cacna2d3	UTSW	14	29333779	missense	possibly damaging	0.67
R1501:Cacna2d3	UTSW	14	28981180	missense	probably damaging	1.00
R1525:Cacna2d3	UTSW	14	28972242	missense	probably benign	0.01
R1574:Cacna2d3	UTSW	14	29351822	missense	probably damaging	1.00
R1574:Cacna2d3	UTSW	14	29351822	missense	probably damaging	1.00
R1866:Cacna2d3	UTSW	14	28969214	missense	probably damaging	1.00
R2403:Cacna2d3	UTSW	14	28905302	missense	probably benign	0.38
R2981:Cacna2d3	UTSW	14	29063918	missense	probably damaging	1.00
R3715:Cacna2d3	UTSW	14	29346923	missense	probably damaging	1.00
R3791:Cacna2d3	UTSW	14	29183581	missense	probably benign	0.03
R3847:Cacna2d3	UTSW	14	29347120	critical splice donor site	probably null
R3849:Cacna2d3	UTSW	14	29347120	critical splice donor site	probably null
R3850:Cacna2d3	UTSW	14	29347120	critical splice donor site	probably null
R4558:Cacna2d3	UTSW	14	29103713	missense	possibly damaging	0.70
R4594:Cacna2d3	UTSW	14	28982346	missense	probably benign	0.13
R4681:Cacna2d3	UTSW	14	29293135	missense	probably damaging	1.00
R4868:Cacna2d3	UTSW	14	28956786	splice site	probably null
R4965:Cacna2d3	UTSW	14	28982332	missense	probably benign	0.07
R5133:Cacna2d3	UTSW	14	29293178	missense	possibly damaging	0.75
R5311:Cacna2d3	UTSW	14	29347030	missense	probably damaging	0.99
R5432:Cacna2d3	UTSW	14	28943555	critical splice donor site	probably null
R5873:Cacna2d3	UTSW	14	29720934	missense	probably benign	0.31
R6103:Cacna2d3	UTSW	14	29396489	missense	probably damaging	1.00
R6197:Cacna2d3	UTSW	14	28908321	missense	probably benign	0.38
R6396:Cacna2d3	UTSW	14	29396565	missense	probably benign	0.03
R6626:Cacna2d3	UTSW	14	29064186	unclassified	probably benign
R6632:Cacna2d3	UTSW	14	28905265	makesense	probably null
R6706:Cacna2d3	UTSW	14	29124685	critical splice acceptor site	probably null
R6765:Cacna2d3	UTSW	14	29055977	missense	probably damaging	1.00
R6945:Cacna2d3	UTSW	14	28969318	intron	probably benign
R7009:Cacna2d3	UTSW	14	28969365	start codon destroyed	probably null
R7069:Cacna2d3	UTSW	14	28969303	intron	probably benign
R7146:Cacna2d3	UTSW	14	29721697	missense	unknown
R7427:Cacna2d3	UTSW	14	29064275	missense	probably damaging	1.00
R7428:Cacna2d3	UTSW	14	29064275	missense	probably damaging	1.00
R7445:Cacna2d3	UTSW	14	29058618	missense	possibly damaging	0.88
R7505:Cacna2d3	UTSW	14	29045544	splice site	probably null
R7560:Cacna2d3	UTSW	14	29058421	missense	probably benign	0.18
R7703:Cacna2d3	UTSW	14	29043546	missense	possibly damaging	0.90
R8042:Cacna2d3	UTSW	14	29105038	splice site	probably benign
R8096:Cacna2d3	UTSW	14	29103700	missense	possibly damaging	0.62
R8280:Cacna2d3	UTSW	14	28982371	missense	probably benign	0.25
R8814:Cacna2d3	UTSW	14	29097815	missense	probably damaging	1.00
R8838:Cacna2d3	UTSW	14	28969263	missense	probably benign	0.03
R8864:Cacna2d3	UTSW	14	29333778	missense	probably damaging	1.00
R9103:Cacna2d3	UTSW	14	29347014	missense	probably damaging	1.00
R9341:Cacna2d3	UTSW	14	28982358	missense	possibly damaging	0.92
R9343:Cacna2d3	UTSW	14	28982358	missense	possibly damaging	0.92
R9567:Cacna2d3	UTSW	14	28905311	missense	probably benign	0.38
Z1088:Cacna2d3	UTSW	14	29064308	missense	probably damaging	0.99
Z1177:Cacna2d3	UTSW	14	29347163	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AACAGTCCACAACCTGGAGTGAGC -3'
(R):5'- ACTCTCTGCACCACTAAAAGATGGC -3'

Sequencing Primer
(F):5'- ACCTGGAGTGAGCTTCAAC -3'
(R):5'- GGCCAGTTCTCAGTATGCAC -3'

Posted On

2014-03-28