Mutagenetix > Incidental Mutation

Incidental Mutation 'R6626:Cacna2d3'

543556

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

044748-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6626 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28626900-29443821 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 28786143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153444 (fasta)

Gene Model

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

AlphaFold

Q9Z1L5

Predicted Effect

probably benign
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

unknown
Transcript: ENSMUST00000225733
AA Change: K349E

Predicted Effect

probably benign
Transcript: ENSMUST00000225863

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

97% (36/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	T	C	11: 3,888,056 (GRCm39)	H110R	unknown	Het
Adgrv1	T	A	13: 81,666,245 (GRCm39)	D1937V	probably damaging	Het
Ank1	T	A	8: 23,465,207 (GRCm39)	L19H	probably damaging	Het
Bcl9	C	T	3: 97,122,712 (GRCm39)	R29H	probably benign	Het
Boc	A	T	16: 44,340,803 (GRCm39)	I49N	possibly damaging	Het
C8a	T	C	4: 104,703,164 (GRCm39)	I298V	probably benign	Het
Cacna1s	T	C	1: 136,022,703 (GRCm39)	S879P	probably damaging	Het
Dnm1	A	G	2: 32,230,892 (GRCm39)	I63T	probably damaging	Het
Flnb	C	T	14: 7,929,012 (GRCm38)	R1914C	probably damaging	Het
Gm9493	A	T	19: 23,597,209 (GRCm39)	K35M	possibly damaging	Het
Gpld1	T	C	13: 25,163,953 (GRCm39)	S552P	probably damaging	Het
Hacd1	T	A	2: 14,031,755 (GRCm39)	I243F	probably benign	Het
Klhdc4	A	G	8: 122,546,901 (GRCm39)	V110A	probably benign	Het
Krt26	C	T	11: 99,220,528 (GRCm39)	V441M	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Nav2	A	G	7: 49,244,100 (GRCm39)	Y2109C	probably damaging	Het
Ncbp3	T	A	11: 72,964,210 (GRCm39)	S387T	possibly damaging	Het
Notch2	T	G	3: 98,008,921 (GRCm39)	V513G	probably damaging	Het
Nt5c1b	A	T	12: 10,424,837 (GRCm39)	R128*	probably null	Het
Olig2	T	C	16: 91,024,044 (GRCm39)	S253P	unknown	Het
Or6b1	A	G	6: 42,815,582 (GRCm39)	M256V	probably benign	Het
Or8g17	A	G	9: 38,930,402 (GRCm39)	V145A	possibly damaging	Het
Or8k53	C	T	2: 86,177,364 (GRCm39)	V249I	possibly damaging	Het
Phkb	T	A	8: 86,648,780 (GRCm39)	F199I	probably damaging	Het
Rnf17	A	G	14: 56,665,381 (GRCm39)	T178A	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sfxn2	A	T	19: 46,570,967 (GRCm39)	N9I	possibly damaging	Het
Slc16a4	G	A	3: 107,208,512 (GRCm39)	A341T	possibly damaging	Het
Spata31h1	A	G	10: 82,128,667 (GRCm39)	F1448L	probably benign	Het
Tank	T	A	2: 61,480,640 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,677,822 (GRCm39)	Y69F	probably damaging	Het
Trp53bp1	T	C	2: 121,038,284 (GRCm39)	D1518G	probably damaging	Het
Txndc16	T	C	14: 45,398,792 (GRCm39)		probably null	Het
Ugp2	A	G	11: 21,281,028 (GRCm39)	Y227H	probably damaging	Het
Vps50	G	A	6: 3,551,101 (GRCm39)	W388*	probably null	Het
Zfp516	T	A	18: 83,006,232 (GRCm39)	D1045E	probably damaging	Het
Zscan10	C	T	17: 23,824,831 (GRCm39)	P96S	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
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
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'- GGTGATGTTCTTCAGAAACCAAC -3'
(R):5'- ATTGCCGGGAATCCTATGTAGG -3'

Sequencing Primer
(F):5'- GACACACTGTGAACTGGT -3'
(R):5'- CCGGGAATCCTATGTAGGGATGTC -3'

Posted On

2019-03-04