Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Cacna2d3'

344283

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

041810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28904943-29721864 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28982346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 826 (F826S)

Ref Sequence

ENSEMBL: ENSMUSP00000022567 (fasta)

Gene Model

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

AlphaFold

Q9Z1L5

Predicted Effect

probably benign
Transcript: ENSMUST00000022567
AA Change: F826S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: F826S

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

0.0873

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTAATCCAAGGAGCTGGC -3'
(R):5'- AGGACCCTTGAGATTTCCTTATC -3'

Sequencing Primer
(F):5'- TCCAAGGAGCTGGCAATTC -3'
(R):5'- ACTCTGGAAAATCATGGGTGTATG -3'

Posted On

2015-09-25