Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01626:Cacna2d3'

92709

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cacna2d3

Ensembl Gene

ENSMUSG00000021991

Gene Name

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

Synonyms

alpha2delta3, alpha 2 delta-3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

28904943-29721864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28943607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 152 (E152D)

Ref Sequence

ENSEMBL: ENSMUSP00000152967 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022567] [ENSMUST00000225668] [ENSMUST00000225985]

AlphaFold

Q9Z1L5

Predicted Effect

probably benign
Transcript: ENSMUST00000022567
AA Change: E979D

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: E979D

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: ENSMUST00000225668

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225985
AA Change: E152D

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 60,019,174	D188G	probably damaging	Het
AI314180	G	A	4: 58,832,814		probably benign	Het
Aoc1	A	G	6: 48,906,531	Y447C	probably damaging	Het
Brd1	A	T	15: 88,700,887	L915M	probably damaging	Het
Dnase2b	A	G	3: 146,584,616		probably null	Het
Fat4	T	C	3: 38,951,032	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,758,705	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,022,231	V167M	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gnptab	A	G	10: 88,437,495	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,108,619	D354V	probably damaging	Het
Gucy2e	A	G	11: 69,232,855	V406A	possibly damaging	Het
Herc2	T	C	7: 56,085,142	F160S	probably benign	Het
Ice2	T	G	9: 69,407,332	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,630,202	Y406C	probably damaging	Het
Lepr	C	T	4: 101,733,534	T103I	probably benign	Het
Ly75	T	A	2: 60,301,015	M1589L	probably benign	Het
Map4k3	A	G	17: 80,605,809	V644A	probably damaging	Het
Micall1	A	G	15: 79,130,512	D696G	possibly damaging	Het
Muc4	T	C	16: 32,736,402	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,314,966	D9G	probably damaging	Het
Nop14	T	A	5: 34,649,345	K472*	probably null	Het
Npat	T	A	9: 53,556,571	D275E	possibly damaging	Het
Nt5c1b	A	G	12: 10,374,798	T115A	probably benign	Het
Olfr429	A	G	1: 174,089,556	N172S	probably damaging	Het
Olfr709-ps1	A	T	7: 106,927,420	I13N	probably benign	Het
Pnpla7	T	A	2: 25,050,893	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,533,372		probably null	Het
Ppfia1	A	G	7: 144,481,719	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,718	D426E	probably benign	Het
Ptgs2	G	A	1: 150,103,727	R231H	probably damaging	Het
Rorc	A	G	3: 94,388,787	D91G	probably damaging	Het
Scaper	C	T	9: 55,912,051	V127M	possibly damaging	Het
Sema3g	A	T	14: 31,221,727	Y188F	probably damaging	Het
Slc45a3	G	T	1: 131,978,987	A400S	possibly damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Spg11	T	A	2: 122,060,971	H1973L	probably damaging	Het
Srgap3	A	G	6: 112,773,648	Y359H	probably damaging	Het
Stx16	T	G	2: 174,094,020	I248S	probably damaging	Het
Sytl3	A	G	17: 6,735,440	R287G	probably damaging	Het
Tiam1	T	C	16: 89,812,968	T82A	probably damaging	Het
Trpm1	T	C	7: 64,268,889	L659P	probably damaging	Het
Ttc13	G	A	8: 124,673,738		probably benign	Het
Unc80	T	C	1: 66,551,054		probably null	Het
Vldlr	G	T	19: 27,243,773	R613L	probably damaging	Het
Wdr77	C	T	3: 105,959,686	R35*	probably null	Het
Zc3h14	T	G	12: 98,779,186	I478R	possibly damaging	Het
Zfp366	A	G	13: 99,228,412	H27R	probably damaging	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
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
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

Posted On

2013-12-09