Mutagenetix > Incidental Mutation

Incidental Mutation 'R7445:Cacna2d3'

577252

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

045521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7445 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28904943-29721864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29058618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 648 (S648P)

Ref Sequence

ENSEMBL: ENSMUSP00000022567 (fasta)

Gene Model

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

AlphaFold

Q9Z1L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022567
AA Change: S648P

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: S648P

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

Meta Mutation Damage Score

0.1049

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,619	S233T	probably damaging	Het
1700034E13Rik	T	A	18: 52,660,481	C29S	probably damaging	Het
1700061G19Rik	G	A	17: 56,882,973	R333Q	possibly damaging	Het
9130409I23Rik	A	G	1: 181,055,012	N113S	possibly damaging	Het
Ank3	A	G	10: 69,992,124	T2208A		Het
Ap4s1	T	C	12: 51,738,641	L132P	probably damaging	Het
Ascl4	C	T	10: 85,928,500	R4C	probably benign	Het
Brd7	A	T	8: 88,361,708	Y18N	probably damaging	Het
Camta1	C	T	4: 151,144,291	E695K	possibly damaging	Het
Ccdc28b	A	G	4: 129,622,607	F53L	probably benign	Het
Chaf1a	A	G	17: 56,062,170	D467G	possibly damaging	Het
Cnnm1	G	A	19: 43,440,821	R126H	possibly damaging	Het
Cog5	T	G	12: 31,919,672	S730R	possibly damaging	Het
Col11a1	A	T	3: 114,193,929	E1374D	unknown	Het
Csmd1	A	G	8: 16,158,254	I1229T	possibly damaging	Het
Dnajc30	T	C	5: 135,064,378	L43P	probably damaging	Het
Eif3f	C	T	7: 108,934,658	T76M	unknown	Het
Ermap	G	A	4: 119,188,710	T42I	unknown	Het
Gpd1l	C	T	9: 114,920,674	G25S	probably damaging	Het
Heatr1	G	T	13: 12,431,038	W1632L	possibly damaging	Het
Ice1	T	C	13: 70,596,167	D29G		Het
Ipo8	T	C	6: 148,789,817	D685G	probably benign	Het
Klra10	T	C	6: 130,275,856	T152A	probably benign	Het
Lmntd1	T	A	6: 145,429,967	S82C	probably damaging	Het
Maip1	T	C	1: 57,407,031	S87P	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,519	S3P	unknown	Het
Mei4	A	G	9: 81,890,239	Y35C	possibly damaging	Het
Ms4a14	T	G	19: 11,302,972	K741Q	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Ncapg2	A	G	12: 116,419,268	I240V	possibly damaging	Het
Ncbp1	T	A	4: 46,149,914	M145K	probably damaging	Het
Nmur2	A	G	11: 56,032,940	F263L	probably damaging	Het
Ntrk2	A	G	13: 58,846,762	E164G	probably benign	Het
Olfr48	T	A	2: 89,844,272	T234S	probably damaging	Het
Olfr705	A	G	7: 106,873,342	L301S	possibly damaging	Het
Olfr785	A	T	10: 129,409,885	D173V	probably benign	Het
P3h2	T	A	16: 25,985,065	Y317F	probably damaging	Het
Pcmtd1	C	T	1: 7,120,420	R38C	probably damaging	Het
Pcyox1	T	C	6: 86,391,679	T286A	possibly damaging	Het
Pdxk	T	C	10: 78,447,967	D131G	probably benign	Het
Ppl	T	C	16: 5,089,068	D1121G	probably damaging	Het
Prkra	T	C	2: 76,633,598	D240G	probably benign	Het
Ptgs1	C	A	2: 36,245,210	N395K	probably benign	Het
Ptprq	A	T	10: 107,590,959	Y1572N	probably damaging	Het
Pyroxd1	A	T	6: 142,358,501	H326L	probably benign	Het
Rapgef5	A	G	12: 117,755,969	D778G	probably benign	Het
Rbm46	T	A	3: 82,864,210	E366V	probably damaging	Het
Rnd1	G	T	15: 98,670,669	H209Q	probably benign	Het
Rnf122	A	T	8: 31,118,500	D32V	possibly damaging	Het
Samd4b	G	A	7: 28,406,456	P446S	probably benign	Het
Slco1a5	C	A	6: 142,259,008	A187S	possibly damaging	Het
Smarca4	G	A	9: 21,686,247	V1436M	probably damaging	Het
Smok2a	G	A	17: 13,226,639	G368R	possibly damaging	Het
Smok3c	T	A	5: 138,064,495	H81Q	probably damaging	Het
Soga3	T	C	10: 29,197,003	S764P	possibly damaging	Het
Stk16	T	C	1: 75,213,652	V245A	probably damaging	Het
Svep1	A	T	4: 58,094,122	N1505K	possibly damaging	Het
Tigd4	G	A	3: 84,595,164	A463T	probably benign	Het
Tmem117	T	C	15: 94,714,918	F112L	probably benign	Het
Tmem72	A	G	6: 116,698,330	I67T	probably benign	Het
Tnik	A	G	3: 28,663,909		probably null	Het
Trav14-2	A	G	14: 53,641,058	Q66R	probably damaging	Het
Trpv6	T	A	6: 41,621,342	D677V	probably damaging	Het
Vgll4	C	T	6: 114,862,196	S278N	unknown	Het
Wdfy4	C	T	14: 33,070,618	W2157*	probably null	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
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
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'- TGAGATAGATGGCGGTGCTC -3'
(R):5'- AGAATCTTTGTTCCCCAGCAC -3'

Sequencing Primer
(F):5'- CAGGTCAGTGTTGCAGTAGGACC -3'
(R):5'- CCAGCACATCCCTTTGGG -3'

Posted On

2019-10-07