Mutagenetix > Incidental Mutation

Incidental Mutation 'R1312:Cacna2d3'

157976

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

039378-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1312 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28626900-29443821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28767625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 750 (D750G)

Ref Sequence

ENSEMBL: ENSMUSP00000022567 (fasta)

Gene Model

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

AlphaFold

Q9Z1L5

Predicted Effect

probably benign
Transcript: ENSMUST00000022567
AA Change: D750G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: D750G

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

0.2557

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 85.7%

Validation Efficiency

98% (41/42)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	T	4: 103,127,994 (GRCm39)	F44I	probably damaging	Het
Acot10	A	G	15: 20,666,585 (GRCm39)	V52A	probably benign	Het
Arhgap32	T	C	9: 32,166,608 (GRCm39)	V415A	probably benign	Het
Cdh15	G	A	8: 123,588,188 (GRCm39)		probably benign	Het
Edem2	T	G	2: 155,544,505 (GRCm39)	D415A	probably damaging	Het
Eml6	A	G	11: 29,781,219 (GRCm39)		probably benign	Het
Ercc5	T	C	1: 44,203,179 (GRCm39)	F272S	probably damaging	Het
Fcamr	C	T	1: 130,739,224 (GRCm39)	R175C	probably damaging	Het
Frem3	G	A	8: 81,341,951 (GRCm39)	V1415I	probably benign	Het
Fry	T	C	5: 150,326,897 (GRCm39)		probably benign	Het
Gm14443	A	T	2: 175,013,383 (GRCm39)		probably benign	Het
Ift70a2	A	T	2: 75,806,676 (GRCm39)	V612D	probably benign	Het
Insrr	A	G	3: 87,707,797 (GRCm39)	T80A	probably damaging	Het
Itih2	T	A	2: 10,102,735 (GRCm39)	T800S	probably benign	Het
Lgals9	G	A	11: 78,867,443 (GRCm39)	Q42*	probably null	Het
Lrrk2	A	G	15: 91,584,098 (GRCm39)	N286S	probably damaging	Het
Mefv	A	G	16: 3,526,398 (GRCm39)		probably benign	Het
Mkx	T	A	18: 6,937,192 (GRCm39)	D284V	probably benign	Het
Mtrex	A	C	13: 113,019,785 (GRCm39)	L775*	probably null	Het
Or11g27	T	A	14: 50,771,652 (GRCm39)	I261K	probably benign	Het
Pde1b	T	G	15: 103,434,700 (GRCm39)	S339A	possibly damaging	Het
Plch2	C	T	4: 155,074,256 (GRCm39)	V765M	probably damaging	Het
Ppp4r3b	A	T	11: 29,123,358 (GRCm39)	Q18L	probably benign	Het
Psme4	T	A	11: 30,757,687 (GRCm39)		probably null	Het
Pwp1	G	A	10: 85,715,173 (GRCm39)	D220N	probably damaging	Het
Rel	G	A	11: 23,707,010 (GRCm39)	T64I	probably damaging	Het
Rho	C	G	6: 115,912,566 (GRCm39)	N160K	probably damaging	Het
Sntb2	A	G	8: 107,728,209 (GRCm39)	T386A	probably damaging	Het
Styxl2	A	T	1: 165,926,860 (GRCm39)	N917K	possibly damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,988,728 (GRCm39)	T249A	possibly damaging	Het
Vmn1r167	A	G	7: 23,204,548 (GRCm39)	F156S	probably benign	Het
Vrk2	G	A	11: 26,485,522 (GRCm39)		probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp638	A	G	6: 83,906,023 (GRCm39)	N63D	probably damaging	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
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
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'- ATTCTGCACTGACTGAAGGCTGAC -3'
(R):5'- CCAGAACCCACAGGCACTTTTGAG -3'

Sequencing Primer
(F):5'- CATGGTTCCCTCCAGGATGTG -3'
(R):5'- CACAGGCACTTTTGAGTAAAGTCG -3'

Posted On

2014-02-18