Mutagenetix > Incidental Mutation

Incidental Mutation 'R4965:Cacna2d3'

383956

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28626900-29443821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28704289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 831 (F831L)

Ref Sequence

ENSEMBL: ENSMUSP00000022567 (fasta)

Gene Model

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

AlphaFold

Q9Z1L5

Predicted Effect

probably benign
Transcript: ENSMUST00000022567
AA Change: F831L

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: F831L

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,775,433 (GRCm39)	T1541A	probably benign	Het
9530002B09Rik	T	C	4: 122,594,285 (GRCm39)	M59T	probably benign	Het
Adam18	C	T	8: 25,131,827 (GRCm39)	C428Y	probably damaging	Het
Adcy5	A	G	16: 35,098,872 (GRCm39)	E700G	possibly damaging	Het
Adprh	G	T	16: 38,266,142 (GRCm39)	Y333*	probably null	Het
Agfg2	C	A	5: 137,665,439 (GRCm39)		probably null	Het
Akip1	A	T	7: 109,310,961 (GRCm39)	E167V	probably damaging	Het
Akr1c21	A	T	13: 4,630,304 (GRCm39)	Q199L	probably damaging	Het
Aldh9a1	C	A	1: 167,193,358 (GRCm39)	A455E	probably damaging	Het
Amph	G	A	13: 19,321,869 (GRCm39)	S520N	probably benign	Het
Ankrd52	A	G	10: 128,226,376 (GRCm39)	D1006G	probably benign	Het
Ap5z1	A	C	5: 142,453,431 (GRCm39)	Q133P	probably damaging	Het
Babam1	C	T	8: 71,857,032 (GRCm39)	A331V	possibly damaging	Het
Btc	T	C	5: 91,510,160 (GRCm39)		probably null	Het
Cadm3	G	A	1: 173,164,664 (GRCm39)	P372L	probably damaging	Het
Capn5	A	T	7: 97,775,624 (GRCm39)	M439K	probably damaging	Het
Carf	T	C	1: 60,189,796 (GRCm39)	S639P	probably damaging	Het
Casp12	C	T	9: 5,352,250 (GRCm39)	R81C	probably benign	Het
Ces2e	G	T	8: 105,660,330 (GRCm39)	R555M	probably benign	Het
Cfap54	T	A	10: 92,902,661 (GRCm39)	I164F	probably benign	Het
Cltc	C	T	11: 86,598,327 (GRCm39)	V1012I	probably damaging	Het
Cmya5	G	A	13: 93,232,295 (GRCm39)	T931I	possibly damaging	Het
Cntn6	A	G	6: 104,751,435 (GRCm39)	I364V	probably damaging	Het
Cntnap1	A	T	11: 101,068,251 (GRCm39)	I59F	possibly damaging	Het
Cop1	T	C	1: 159,067,167 (GRCm39)	M80T	probably damaging	Het
Cplx2	A	G	13: 54,527,460 (GRCm39)	S115G	possibly damaging	Het
Crtac1	A	G	19: 42,307,179 (GRCm39)	Y195H	probably damaging	Het
Csn1s2a	A	C	5: 87,929,697 (GRCm39)	S99R	possibly damaging	Het
Csn1s2b	T	A	5: 87,961,820 (GRCm39)	D41E	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cux1	A	T	5: 136,340,410 (GRCm39)	N625K	possibly damaging	Het
Cyp2c37	A	T	19: 40,000,206 (GRCm39)	M443L	possibly damaging	Het
Cyp2s1	G	A	7: 25,508,710 (GRCm39)	T244I	possibly damaging	Het
Dgkh	C	T	14: 78,861,861 (GRCm39)	V135M	probably damaging	Het
Dtl	T	C	1: 191,278,677 (GRCm39)	E395G	possibly damaging	Het
Dyrk1a	G	T	16: 94,492,854 (GRCm39)	G658*	probably null	Het
Erlin2	T	C	8: 27,519,623 (GRCm39)	F117S	probably damaging	Het
Fkbp8	A	G	8: 70,984,173 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,874,439 (GRCm39)	F2288S	possibly damaging	Het
Frmd3	A	G	4: 74,071,837 (GRCm39)	T240A	probably damaging	Het
H2-D1	A	G	17: 35,482,881 (GRCm39)	Y137C	probably damaging	Het
Helz2	A	G	2: 180,882,709 (GRCm39)	V28A	possibly damaging	Het
Hydin	A	G	8: 111,124,727 (GRCm39)	I579V	probably benign	Het
Il6	A	T	5: 30,218,491 (GRCm39)	Y29F	possibly damaging	Het
Ildr2	A	G	1: 166,135,409 (GRCm39)	D368G	probably damaging	Het
Junb	T	A	8: 85,704,788 (GRCm39)	I91F	probably damaging	Het
Kat2a	C	A	11: 100,603,029 (GRCm39)		probably benign	Het
Kat2a	A	T	11: 100,603,030 (GRCm39)		probably benign	Het
Kcnh5	T	A	12: 75,011,925 (GRCm39)	T665S	probably benign	Het
Kdm1b	A	T	13: 47,227,843 (GRCm39)	D608V	probably damaging	Het
Krcc1	A	G	6: 71,261,621 (GRCm39)	K218E	probably damaging	Het
Krt8	C	T	15: 101,905,386 (GRCm39)	V488M	probably benign	Het
Lzts1	C	T	8: 69,591,414 (GRCm39)	A245T	probably benign	Het
Mcm6	T	A	1: 128,287,223 (GRCm39)	Q27L	probably damaging	Het
Mfsd4b3-ps	G	T	10: 39,823,686 (GRCm39)	Y191*	probably null	Het
Mgme1	C	T	2: 144,118,324 (GRCm39)	Q199*	probably null	Het
Mgme1	T	C	2: 144,121,540 (GRCm39)	L332P	probably benign	Het
Morc3	G	T	16: 93,657,475 (GRCm39)	E25*	probably null	Het
Mroh7	G	A	4: 106,548,184 (GRCm39)	A1098V	possibly damaging	Het
Mtrf1	G	A	14: 79,644,027 (GRCm39)	R174H	probably benign	Het
Mybpc3	G	A	2: 90,949,592 (GRCm39)	G45D	possibly damaging	Het
Mycbpap	A	T	11: 94,395,764 (GRCm39)	N733K	probably damaging	Het
N4bp1	T	C	8: 87,578,314 (GRCm39)	I684V	possibly damaging	Het
Nav2	A	T	7: 49,202,625 (GRCm39)	R1470*	probably null	Het
Ndufa9	A	T	6: 126,799,026 (GRCm39)	S364T	probably benign	Het
Nipal4	C	A	11: 46,052,837 (GRCm39)	A43S	possibly damaging	Het
Nlrp1a	T	A	11: 70,983,141 (GRCm39)	Y1275F	possibly damaging	Het
Nova1	A	T	12: 46,767,618 (GRCm39)	L8*	probably null	Het
Odam	G	T	5: 88,037,967 (GRCm39)	G181*	probably null	Het
Optn	T	A	2: 5,026,190 (GRCm39)	Q576L	probably benign	Het
Or2c1	T	C	16: 3,657,434 (GRCm39)	L199P	probably damaging	Het
Or4k47	T	C	2: 111,451,879 (GRCm39)	D180G	probably damaging	Het
Or4l1	C	T	14: 50,166,354 (GRCm39)	V216I	probably benign	Het
Or51a39	A	T	7: 102,362,702 (GRCm39)	I306N	probably damaging	Het
Or5as1	T	A	2: 86,981,003 (GRCm39)	M1L	possibly damaging	Het
Or5h18	A	T	16: 58,847,696 (GRCm39)	D191E	probably damaging	Het
Or8s2	T	C	15: 98,277,030 (GRCm39)		probably benign	Het
Patl2	G	T	2: 121,959,329 (GRCm39)	S45*	probably null	Het
Pde2a	G	A	7: 101,152,140 (GRCm39)	G349E	probably benign	Het
Pdlim2	T	A	14: 70,405,464 (GRCm39)		probably benign	Het
Per1	T	C	11: 68,995,227 (GRCm39)	V653A	probably benign	Het
Phlda2	A	G	7: 143,056,005 (GRCm39)	S75P	probably damaging	Het
Poldip3	A	T	15: 83,021,706 (GRCm39)	M167K	possibly damaging	Het
Potegl	C	A	2: 23,135,127 (GRCm39)	T312K	probably benign	Het
Prpf38a	T	C	4: 108,436,278 (GRCm39)	I12V	probably benign	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Ptges3l	A	T	11: 101,315,448 (GRCm39)	M1K	probably null	Het
Rdh5	A	G	10: 128,749,653 (GRCm39)	Y296H	probably damaging	Het
Resf1	G	T	6: 149,229,896 (GRCm39)	G981*	probably null	Het
Rnf2	T	A	1: 151,348,968 (GRCm39)	K51*	probably null	Het
Rpusd3	C	A	6: 113,393,809 (GRCm39)	R215L	probably benign	Het
Rsph4a	A	T	10: 33,785,236 (GRCm39)	E382D	probably damaging	Het
S1pr2	G	A	9: 20,879,745 (GRCm39)	Q28*	probably null	Het
Sesn1	A	T	10: 41,771,005 (GRCm39)	I179F	probably damaging	Het
Setd3	T	A	12: 108,079,630 (GRCm39)	E291V	probably benign	Het
Shc1	G	T	3: 89,334,303 (GRCm39)	R323L	probably damaging	Het
Slc22a5	T	C	11: 53,782,352 (GRCm39)	D5G	possibly damaging	Het
Slc6a19	T	C	13: 73,848,677 (GRCm39)	K26E	probably benign	Het
Slc9a3	A	G	13: 74,312,412 (GRCm39)	N670D	possibly damaging	Het
Spata19	A	T	9: 27,311,761 (GRCm39)	I127L	probably benign	Het
Speg	G	T	1: 75,404,347 (GRCm39)	V2751L	probably damaging	Het
Sptbn2	A	G	19: 4,779,337 (GRCm39)	D298G	probably benign	Het
Srm	T	C	4: 148,678,640 (GRCm39)	V289A	possibly damaging	Het
Stip1	C	T	19: 7,012,938 (GRCm39)	A49T	probably benign	Het
Tas2r118	C	A	6: 23,969,627 (GRCm39)	V145F	probably benign	Het
Tbc1d12	A	T	19: 38,854,169 (GRCm39)	K284*	probably null	Het
Tfcp2	T	C	15: 100,423,531 (GRCm39)	H125R	probably damaging	Het
Tfdp1	T	C	8: 13,423,073 (GRCm39)	V206A	probably damaging	Het
Tgtp2	A	G	11: 48,950,237 (GRCm39)	W112R	probably damaging	Het
Tmem71	T	G	15: 66,410,710 (GRCm39)	M221L	probably benign	Het
Tpcn1	T	C	5: 120,685,552 (GRCm39)	N436S	possibly damaging	Het
Usp4	C	T	9: 108,239,819 (GRCm39)	L183F	probably damaging	Het
Vmn2r55	A	T	7: 12,404,478 (GRCm39)	N308K	possibly damaging	Het
Zfp106	T	A	2: 120,364,400 (GRCm39)	D669V	probably damaging	Het
Zfp108	A	T	7: 23,959,573 (GRCm39)	I55L	probably benign	Het
Zfp512b	A	T	2: 181,228,131 (GRCm39)	S8R	probably damaging	Het
Zfp827	T	C	8: 79,787,910 (GRCm39)	S359P	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
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
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'- GGTATCAAACATGCTGACAGCC -3'
(R):5'- CTGGAACTCTGGAAAATCATGGG -3'

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

Posted On

2016-04-27