Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03265:Cacna2d3'

415059

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

alpha 2 delta-3, alpha2delta3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

28626900-29443821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28674243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 944 (E944G)

Ref Sequence

ENSEMBL: ENSMUSP00000022567 (fasta)

Gene Model

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

AlphaFold

Q9Z1L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022567
AA Change: E944G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: E944G

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

silent
Transcript: ENSMUST00000225668

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225985
AA Change: E117G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; 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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	A	11: 109,943,929 (GRCm39)	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,495,014 (GRCm39)	M286T	probably benign	Het
Anapc1	T	C	2: 128,469,117 (GRCm39)	S1575G	probably damaging	Het
Apba2	A	G	7: 64,345,071 (GRCm39)	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,854,439 (GRCm39)	F1641S	probably benign	Het
Atad2b	T	A	12: 5,074,628 (GRCm39)	H1062Q	probably benign	Het
Bivm	A	G	1: 44,181,005 (GRCm39)	R396G	probably damaging	Het
Bltp1	T	A	3: 37,102,140 (GRCm39)	D4777E	probably benign	Het
Bmi1	T	A	2: 18,686,672 (GRCm39)	M17K	possibly damaging	Het
Bptf	T	C	11: 106,945,454 (GRCm39)	N2480S	probably benign	Het
Ces2a	C	T	8: 105,464,075 (GRCm39)	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,568,007 (GRCm39)	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,016,199 (GRCm39)	E91D	probably benign	Het
Dus2	C	A	8: 106,760,423 (GRCm39)		probably benign	Het
Epha6	T	C	16: 59,880,594 (GRCm39)		probably benign	Het
Erap1	A	T	13: 74,812,246 (GRCm39)	T354S	probably damaging	Het
Fbxo11	T	C	17: 88,300,259 (GRCm39)	H851R	probably damaging	Het
Gm20532	G	A	2: 26,522,696 (GRCm39)	C90Y	unknown	Het
Gpr21	T	C	2: 37,408,086 (GRCm39)	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,398,002 (GRCm39)		probably benign	Het
Hephl1	G	A	9: 14,972,255 (GRCm39)	T895I	probably benign	Het
Hey1	T	C	3: 8,729,974 (GRCm39)	Y161C	probably benign	Het
Kdr	A	G	5: 76,121,433 (GRCm39)	Y526H	probably damaging	Het
Lpp	A	G	16: 24,580,737 (GRCm39)	Y151C	probably damaging	Het
Macc1	A	G	12: 119,410,711 (GRCm39)	N493S	probably benign	Het
Or2t45	T	C	11: 58,669,697 (GRCm39)	V248A	probably damaging	Het
Or52s6	C	A	7: 103,091,655 (GRCm39)	R225L	probably benign	Het
Or5m10b	T	A	2: 85,699,494 (GRCm39)	M186K	possibly damaging	Het
Or5t16	T	A	2: 86,819,424 (GRCm39)	Y32F	probably damaging	Het
Or6c1b	A	T	10: 129,272,794 (GRCm39)	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,648,206 (GRCm39)	D445G	probably damaging	Het
Prkra	T	C	2: 76,470,614 (GRCm39)	N123D	probably benign	Het
Slc25a33	A	C	4: 149,846,893 (GRCm39)	L56R	probably damaging	Het
Usp36	A	G	11: 118,155,635 (GRCm39)	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,453,898 (GRCm39)	L188*	probably null	Het
Vmn2r12	A	G	5: 109,239,936 (GRCm39)	V209A	probably benign	Het
Zfp809	A	G	9: 22,154,339 (GRCm39)	Y352C	probably benign	Het

Other mutations in Cacna2d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Cacna2d3	APN	14	29,022,688 (GRCm39)	splice site	probably benign
IGL01150:Cacna2d3	APN	14	28,905,598 (GRCm39)	missense	possibly damaging	0.95
IGL01390:Cacna2d3	APN	14	28,665,548 (GRCm39)	missense	possibly damaging	0.91
IGL01626:Cacna2d3	APN	14	28,665,564 (GRCm39)	missense	possibly damaging	0.90
IGL02127:Cacna2d3	APN	14	28,785,832 (GRCm39)	unclassified	probably benign
IGL02237:Cacna2d3	APN	14	29,068,954 (GRCm39)	missense	probably benign	0.09
IGL02274:Cacna2d3	APN	14	28,678,827 (GRCm39)	splice site	probably null
IGL02604:Cacna2d3	APN	14	29,015,066 (GRCm39)	missense	possibly damaging	0.61
IGL02806:Cacna2d3	APN	14	29,073,907 (GRCm39)	splice site	probably null
IGL02838:Cacna2d3	APN	14	29,022,785 (GRCm39)	critical splice acceptor site	probably null
IGL02894:Cacna2d3	APN	14	28,786,276 (GRCm39)	critical splice acceptor site	probably null
IGL03061:Cacna2d3	APN	14	28,780,388 (GRCm39)	missense	probably damaging	0.98
IGL03117:Cacna2d3	APN	14	29,189,909 (GRCm39)	missense	probably damaging	1.00
IGL03266:Cacna2d3	APN	14	29,022,705 (GRCm39)	missense	probably benign	0.01
IGL03396:Cacna2d3	APN	14	29,442,834 (GRCm39)	nonsense	probably null
R0094:Cacna2d3	UTSW	14	28,892,460 (GRCm39)	critical splice donor site	probably null
R0326:Cacna2d3	UTSW	14	28,767,601 (GRCm39)	missense	probably damaging	0.96
R0485:Cacna2d3	UTSW	14	29,256,476 (GRCm39)	missense	possibly damaging	0.89
R0669:Cacna2d3	UTSW	14	29,189,906 (GRCm39)	missense	probably benign	0.40
R0730:Cacna2d3	UTSW	14	28,704,322 (GRCm39)	missense	probably benign	0.02
R0736:Cacna2d3	UTSW	14	28,780,585 (GRCm39)	missense	probably benign	0.02
R1073:Cacna2d3	UTSW	14	28,767,580 (GRCm39)	missense	probably damaging	0.99
R1116:Cacna2d3	UTSW	14	28,786,278 (GRCm39)	splice site	probably benign
R1312:Cacna2d3	UTSW	14	28,767,625 (GRCm39)	missense	probably benign	0.00
R1467:Cacna2d3	UTSW	14	29,055,736 (GRCm39)	missense	possibly damaging	0.67
R1467:Cacna2d3	UTSW	14	29,055,736 (GRCm39)	missense	possibly damaging	0.67
R1501:Cacna2d3	UTSW	14	28,703,137 (GRCm39)	missense	probably damaging	1.00
R1525:Cacna2d3	UTSW	14	28,694,199 (GRCm39)	missense	probably benign	0.01
R1574:Cacna2d3	UTSW	14	29,073,779 (GRCm39)	missense	probably damaging	1.00
R1574:Cacna2d3	UTSW	14	29,073,779 (GRCm39)	missense	probably damaging	1.00
R1866:Cacna2d3	UTSW	14	28,691,171 (GRCm39)	missense	probably damaging	1.00
R2403:Cacna2d3	UTSW	14	28,627,259 (GRCm39)	missense	probably benign	0.38
R2981:Cacna2d3	UTSW	14	28,785,875 (GRCm39)	missense	probably damaging	1.00
R3715:Cacna2d3	UTSW	14	29,068,880 (GRCm39)	missense	probably damaging	1.00
R3791:Cacna2d3	UTSW	14	28,905,538 (GRCm39)	missense	probably benign	0.03
R3847:Cacna2d3	UTSW	14	29,069,077 (GRCm39)	critical splice donor site	probably null
R3849:Cacna2d3	UTSW	14	29,069,077 (GRCm39)	critical splice donor site	probably null
R3850:Cacna2d3	UTSW	14	29,069,077 (GRCm39)	critical splice donor site	probably null
R4558:Cacna2d3	UTSW	14	28,825,670 (GRCm39)	missense	possibly damaging	0.70
R4594:Cacna2d3	UTSW	14	28,704,303 (GRCm39)	missense	probably benign	0.13
R4681:Cacna2d3	UTSW	14	29,015,092 (GRCm39)	missense	probably damaging	1.00
R4868:Cacna2d3	UTSW	14	28,678,743 (GRCm39)	splice site	probably null
R4965:Cacna2d3	UTSW	14	28,704,289 (GRCm39)	missense	probably benign	0.07
R5133:Cacna2d3	UTSW	14	29,015,135 (GRCm39)	missense	possibly damaging	0.75
R5311:Cacna2d3	UTSW	14	29,068,987 (GRCm39)	missense	probably damaging	0.99
R5432:Cacna2d3	UTSW	14	28,665,512 (GRCm39)	critical splice donor site	probably null
R5873:Cacna2d3	UTSW	14	29,442,891 (GRCm39)	missense	probably benign	0.31
R6103:Cacna2d3	UTSW	14	29,118,446 (GRCm39)	missense	probably damaging	1.00
R6197:Cacna2d3	UTSW	14	28,630,278 (GRCm39)	missense	probably benign	0.38
R6396:Cacna2d3	UTSW	14	29,118,522 (GRCm39)	missense	probably benign	0.03
R6626:Cacna2d3	UTSW	14	28,786,143 (GRCm39)	unclassified	probably benign
R6632:Cacna2d3	UTSW	14	28,627,222 (GRCm39)	makesense	probably null
R6706:Cacna2d3	UTSW	14	28,846,642 (GRCm39)	critical splice acceptor site	probably null
R6765:Cacna2d3	UTSW	14	28,777,934 (GRCm39)	missense	probably damaging	1.00
R6945:Cacna2d3	UTSW	14	28,691,275 (GRCm39)	intron	probably benign
R7009:Cacna2d3	UTSW	14	28,691,322 (GRCm39)	start codon destroyed	probably null
R7069:Cacna2d3	UTSW	14	28,691,260 (GRCm39)	intron	probably benign
R7146:Cacna2d3	UTSW	14	29,443,654 (GRCm39)	missense	unknown
R7427:Cacna2d3	UTSW	14	28,786,232 (GRCm39)	missense	probably damaging	1.00
R7428:Cacna2d3	UTSW	14	28,786,232 (GRCm39)	missense	probably damaging	1.00
R7445:Cacna2d3	UTSW	14	28,780,575 (GRCm39)	missense	possibly damaging	0.88
R7505:Cacna2d3	UTSW	14	28,767,501 (GRCm39)	splice site	probably null
R7560:Cacna2d3	UTSW	14	28,780,378 (GRCm39)	missense	probably benign	0.18
R7703:Cacna2d3	UTSW	14	28,765,503 (GRCm39)	missense	possibly damaging	0.90
R8042:Cacna2d3	UTSW	14	28,826,995 (GRCm39)	splice site	probably benign
R8096:Cacna2d3	UTSW	14	28,825,657 (GRCm39)	missense	possibly damaging	0.62
R8280:Cacna2d3	UTSW	14	28,704,328 (GRCm39)	missense	probably benign	0.25
R8814:Cacna2d3	UTSW	14	28,819,772 (GRCm39)	missense	probably damaging	1.00
R8838:Cacna2d3	UTSW	14	28,691,220 (GRCm39)	missense	probably benign	0.03
R8864:Cacna2d3	UTSW	14	29,055,735 (GRCm39)	missense	probably damaging	1.00
R9103:Cacna2d3	UTSW	14	29,068,971 (GRCm39)	missense	probably damaging	1.00
R9341:Cacna2d3	UTSW	14	28,704,315 (GRCm39)	missense	possibly damaging	0.92
R9343:Cacna2d3	UTSW	14	28,704,315 (GRCm39)	missense	possibly damaging	0.92
R9567:Cacna2d3	UTSW	14	28,627,268 (GRCm39)	missense	probably benign	0.38
Z1088:Cacna2d3	UTSW	14	28,786,265 (GRCm39)	missense	probably damaging	0.99
Z1177:Cacna2d3	UTSW	14	29,069,120 (GRCm39)	missense	possibly damaging	0.79

Posted On

2016-08-02