Mutagenetix > Incidental Mutation

Incidental Mutation 'R5873:Cacna2d3'

455334

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

044080-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5873 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28904943-29721864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29720934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 48 (A48S)

Ref Sequence

ENSEMBL: ENSMUSP00000022567 (fasta)

Gene Model

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

AlphaFold

Q9Z1L5

Predicted Effect

probably benign
Transcript: ENSMUST00000022567
AA Change: A48S

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: A48S

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

noncoding transcript
Transcript: ENSMUST00000224128

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,630,167		probably null	Het
4930505A04Rik	T	A	11: 30,426,220	K216*	probably null	Het
5330417H12Rik	T	C	7: 107,624,768		probably benign	Het
Abcc4	G	T	14: 118,526,290	D1044E	probably benign	Het
Adgre4	A	G	17: 55,852,282	T656A	probably benign	Het
Ankk1	T	C	9: 49,415,896	N661S	probably benign	Het
Asah2	A	G	19: 32,003,682		probably null	Het
Asxl3	A	G	18: 22,516,085	D377G	probably benign	Het
C3ar1	A	G	6: 122,850,422	S279P	probably benign	Het
C7	A	G	15: 5,005,235	V610A	probably damaging	Het
Card11	T	A	5: 140,908,638	I79F	probably damaging	Het
Casc3	A	G	11: 98,821,444	Y103C	unknown	Het
Cass4	G	T	2: 172,426,768	V259L	probably benign	Het
Col14a1	A	G	15: 55,445,786		probably benign	Het
Cox10	A	G	11: 64,071,686	S110P	probably benign	Het
Cpt1b	T	C	15: 89,420,728	Y439C	probably damaging	Het
Crybb2	C	T	5: 113,065,893		probably null	Het
Cyp2b23	C	T	7: 26,675,006	R271H	probably benign	Het
Dnah17	T	C	11: 118,056,897	I3039V	probably benign	Het
Dnpep	T	C	1: 75,315,143	D242G	probably damaging	Het
Dock10	T	A	1: 80,574,138	N660I	probably damaging	Het
Esco2	T	C	14: 65,824,191	D471G	probably benign	Het
Evpl	A	T	11: 116,234,432	L97H	probably damaging	Het
Exoc3l4	A	T	12: 111,423,416	I142F	probably damaging	Het
Fry	C	A	5: 150,378,885	P519Q	probably damaging	Het
Gal3st2	T	A	1: 93,873,750	F92I	probably benign	Het
Galm	A	G	17: 80,138,103	E94G	probably benign	Het
Gfy	T	G	7: 45,177,580	H364P	probably damaging	Het
Helz2	A	G	2: 181,234,028	S1558P	possibly damaging	Het
Hmmr	T	A	11: 40,707,700	Q600L	probably damaging	Het
Hnrnph3	A	G	10: 63,019,391		probably null	Het
Igkv4-90	T	A	6: 68,807,469	N21I	probably benign	Het
Kpna1	A	G	16: 36,014,228		probably benign	Het
Krt28	A	C	11: 99,366,890	L375R	probably damaging	Het
Lrrn1	T	C	6: 107,568,975	V578A	probably damaging	Het
Lta4h	T	C	10: 93,469,190		probably null	Het
Matk	T	A	10: 81,260,129	V166E	probably benign	Het
Muc4	C	A	16: 32,751,295	T391K	possibly damaging	Het
Mybl1	T	A	1: 9,685,665	T220S	possibly damaging	Het
Nrp1	T	C	8: 128,468,377	V438A	probably damaging	Het
Olfr1371	A	T	11: 52,213,353	L212Q	probably damaging	Het
Olfr414	T	A	1: 174,430,782	M118K	possibly damaging	Het
Pdia4	A	T	6: 47,808,176	W86R	probably damaging	Het
Pdzd7	T	A	19: 45,027,949	D911V	probably damaging	Het
Pkd1	A	G	17: 24,569,830	Q854R	probably benign	Het
Ppl	A	G	16: 5,106,049		probably null	Het
Ppp1r26	A	G	2: 28,451,605	T416A	probably benign	Het
Prdm15	T	C	16: 97,808,689	D585G	probably damaging	Het
Rbak	A	G	5: 143,173,711	V529A	probably benign	Het
Rc3h1	C	T	1: 160,959,501	T822I	probably damaging	Het
Slc25a18	A	T	6: 120,786,281		probably null	Het
Taf2	T	C	15: 55,038,422	N792S	probably benign	Het
Tat	T	C	8: 109,991,949		probably null	Het
Tbx21	A	T	11: 97,114,648		probably null	Het
Txndc11	A	G	16: 11,075,205	L887P	probably damaging	Het
Usp10	A	G	8: 119,947,092	T399A	possibly damaging	Het
Vmn2r26	A	T	6: 124,061,674	H736L	probably benign	Het
Vstm2a	T	A	11: 16,258,044	F13I	probably damaging	Het
Zkscan5	A	G	5: 145,220,394	R496G	possibly damaging	Het
Zranb2	C	T	3: 157,536,383	R36*	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
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

Predicted Primers

PCR Primer
(F):5'- ATAACTGATGCAGCTCTGGG -3'
(R):5'- ACCTTCTGAACTCCGGTGAC -3'

Sequencing Primer
(F):5'- GGCTCACGTTTGTTTGGAAAAAC -3'
(R):5'- CGCTCTACATCTTGGTGCGG -3'

Posted On

2017-02-10