Mutagenetix > Incidental Mutation

Incidental Mutation 'R0094:Cacna2d3'

64016

Institutional Source

Beutler Lab

Gene Symbol

Cacna2d3

Ensembl Gene

ENSMUSG00000021991

Gene Name

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

Synonyms

alpha 2 delta-3, alpha2delta3

MMRRC Submission

038380-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0094 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

28626900-29443821 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 28892460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022567 (fasta)

Gene Model

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

AlphaFold

Q9Z1L5

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: ENSMUST00000226048

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.4%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,218,184 (GRCm39)	T185S	possibly damaging	Het
Amotl1	A	G	9: 14,486,683 (GRCm39)	S441P	probably benign	Het
Ap5z1	G	A	5: 142,462,567 (GRCm39)	V626M	probably benign	Het
Cfap77	A	T	2: 28,874,446 (GRCm39)	V128D	probably damaging	Het
Colgalt1	T	C	8: 72,075,802 (GRCm39)	V483A	probably damaging	Het
Dcdc2b	T	C	4: 129,504,104 (GRCm39)		probably null	Het
Dsg2	A	T	18: 20,724,910 (GRCm39)	T439S	probably benign	Het
Dtx1	A	G	5: 120,820,689 (GRCm39)	Y455H	probably damaging	Het
Frmpd1	C	A	4: 45,284,899 (GRCm39)	S1240*	probably null	Het
Gypa	T	A	8: 81,227,560 (GRCm39)	H69Q	unknown	Het
Mfap5	G	A	6: 122,502,951 (GRCm39)	V54I	probably damaging	Het
Mroh7	C	T	4: 106,560,381 (GRCm39)	G641E	probably damaging	Het
Mvd	C	T	8: 123,166,442 (GRCm39)	R65H	probably benign	Het
Or14c40	A	G	7: 86,313,502 (GRCm39)	S211G	probably benign	Het
Pigs	T	A	11: 78,230,864 (GRCm39)	N370K	probably damaging	Het
Pkd1	A	G	17: 24,800,250 (GRCm39)	T3004A	possibly damaging	Het
Pkhd1	T	A	1: 20,279,470 (GRCm39)	R2949S	probably damaging	Het
Ptpro	T	C	6: 137,363,350 (GRCm39)	Y495H	probably benign	Het
Rfc4	G	T	16: 22,934,178 (GRCm39)	Q208K	probably benign	Het
Rpa2	T	C	4: 132,497,893 (GRCm39)	S52P	probably damaging	Het
Sirpb1c	G	T	3: 15,892,922 (GRCm39)	T94K	possibly damaging	Het
Sis	A	T	3: 72,828,770 (GRCm39)	N1136K	probably damaging	Het
Spp2	T	A	1: 88,348,402 (GRCm39)		probably null	Het
Ubr3	C	T	2: 69,781,706 (GRCm39)	T628I	probably damaging	Het
Vmn1r213	A	G	13: 23,195,819 (GRCm39)	H134R	probably damaging	Het
Vmn2r59	T	C	7: 41,661,722 (GRCm39)	R698G	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
IGL03265:Cacna2d3	APN	14	28,674,243 (GRCm39)	missense	probably damaging	0.98
IGL03266:Cacna2d3	APN	14	29,022,705 (GRCm39)	missense	probably benign	0.01
IGL03396:Cacna2d3	APN	14	29,442,834 (GRCm39)	nonsense	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

Predicted Primers

PCR Primer
(F):5'- ACGGCCTTTGCCTGTTTCGATG -3'
(R):5'- GCCTGAAATGAGGACTCTGATTCCC -3'

Sequencing Primer
(F):5'- CTTGCCCTGAAGCATAAGGA -3'
(R):5'- AAAGCCTGTGACCTAGCTTTG -3'

Posted On

2013-08-06