Mutagenetix > Incidental Mutations

Incidental Mutation 'R3849:Cacna2d3'

275834

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

040897-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28904943-29721864 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 29347120 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022567 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000022567

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225953

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (52/52)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	A	T	7: 137,376,340	N102K	possibly damaging	Het
Abca1	C	T	4: 53,061,481		probably benign	Het
Adamts17	T	A	7: 66,840,467	L99Q	possibly damaging	Het
Adamtsl1	A	T	4: 86,418,546	Q1564L	probably damaging	Het
Aspm	T	A	1: 139,458,286	V556E	probably benign	Het
Axin1	T	A	17: 26,187,797	Y455N	probably benign	Het
BC017158	C	T	7: 128,285,208	V201I	probably damaging	Het
Car8	T	A	4: 8,189,353	I154F	probably benign	Het
Ccl27a	T	A	4: 41,773,232	T76S	probably benign	Het
Cep170	G	A	1: 176,755,843	A990V	probably benign	Het
Chd1	A	T	17: 15,731,871	T291S	probably damaging	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Cpa4	T	C	6: 30,590,873	F390S	probably damaging	Het
Cul5	T	G	9: 53,617,986	M800L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Dusp8	T	C	7: 142,090,065	E37G	probably damaging	Het
Efr3b	T	C	12: 3,983,414	N131S	probably benign	Het
Fan1	T	C	7: 64,372,371	Y378C	probably damaging	Het
Fcgr2b	T	C	1: 170,968,135	N75S	possibly damaging	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Grip1	G	A	10: 119,929,958	G65D	probably damaging	Het
Hoxc10	T	C	15: 102,967,444	V196A	probably benign	Het
Hpx	A	G	7: 105,596,291	C92R	probably damaging	Het
Ighv1-22	A	G	12: 114,746,681	F9S	possibly damaging	Het
Kif24	C	T	4: 41,404,734	R422H	probably damaging	Het
Klk1b1	T	C	7: 43,969,327	Y43H	probably damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Lysmd1	G	A	3: 95,138,461	G203D	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Mrc2	T	C	11: 105,292,903		probably null	Het
Mtr	A	G	13: 12,247,365	S152P	probably benign	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Ndufa13	T	C	8: 69,901,610	D9G	probably damaging	Het
Nek1	T	A	8: 61,072,315	F596I	probably damaging	Het
Nsd1	A	G	13: 55,246,691	T702A	probably benign	Het
Olfr77	A	T	9: 19,920,809	Y200F	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Plxnc1	A	G	10: 94,794,432	V1535A	probably benign	Het
Prdx5	A	G	19: 6,906,850	L166P	probably damaging	Het
Prol1	A	T	5: 88,328,617	I289F	unknown	Het
Prss23	T	C	7: 89,509,751	Y370C	probably damaging	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnase2b	T	A	14: 51,162,748	H95Q	probably damaging	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Syne2	C	T	12: 76,046,065	Q5150*	probably null	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Vwa3a	A	T	7: 120,762,464	K133*	probably null	Het
Vwce	T	C	19: 10,646,905	S387P	probably damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	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
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
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
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'- CACCCAGAGTATCCAGTATTGAG -3'
(R):5'- AGTGAGGAGCTGCTGCATTG -3'

Sequencing Primer
(F):5'- CCAGAGTATCCAGTATTGAGGACAC -3'
(R):5'- GAGCTGCTGCATTGTGCCTTC -3'

Posted On

2015-04-06