Mutagenetix > Incidental Mutation

Incidental Mutation 'R5133:Cacna2d3'

475462

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

042721-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5133 (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 29015135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 86 (F86L)

Ref Sequence

ENSEMBL: ENSMUSP00000153143 (fasta)

Gene Model

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

AlphaFold

Q9Z1L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022567
AA Change: F352L

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022567
Gene: ENSMUSG00000021991
AA Change: F352L

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

possibly damaging
Transcript: ENSMUST00000225733
AA Change: F86L

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225863
AA Change: F86L

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226048

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	T	4: 128,655,934 (GRCm39)	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,484,875 (GRCm39)	A306V	probably benign	Het
Acvr1c	T	A	2: 58,173,518 (GRCm39)	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,587,560 (GRCm39)	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Afg3l1	T	C	8: 124,216,532 (GRCm39)	V257A	probably benign	Het
Agbl1	C	A	7: 76,071,904 (GRCm39)	Q334K	probably benign	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Apob	A	T	12: 8,058,898 (GRCm39)	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,649,765 (GRCm39)	C585R	probably damaging	Het
Baz2a	G	A	10: 127,951,995 (GRCm39)	G571D	probably damaging	Het
Baz2b	A	T	2: 59,792,368 (GRCm39)	S587T	probably benign	Het
Bicdl2	T	C	17: 23,880,795 (GRCm39)	L14P	unknown	Het
Cachd1	G	A	4: 100,851,935 (GRCm39)	S1177N	probably damaging	Het
Ccdc192	C	T	18: 57,697,041 (GRCm39)	T65I	possibly damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cmya5	T	C	13: 93,229,880 (GRCm39)	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,512,456 (GRCm39)	V2913A	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Csn1s1	A	G	5: 87,828,737 (GRCm39)	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,795,663 (GRCm39)	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,908,813 (GRCm39)	K760N	probably damaging	Het
Dnah17	T	C	11: 118,007,939 (GRCm39)	K691E	probably benign	Het
Dppa4	G	A	16: 48,113,334 (GRCm39)	R189Q	probably benign	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,375,605 (GRCm39)	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Ezh2	C	T	6: 47,517,684 (GRCm39)	C584Y	probably damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam186a	T	G	15: 99,853,374 (GRCm39)	D122A	unknown	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fam234b	T	C	6: 135,186,193 (GRCm39)	V67A	probably benign	Het
Fbn2	T	C	18: 58,172,412 (GRCm39)	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,307,828 (GRCm39)	Y271H	probably damaging	Het
Gnmt	A	T	17: 47,036,860 (GRCm39)	S250T	probably benign	Het
Golgb1	C	A	16: 36,711,819 (GRCm39)	Q208K	possibly damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hap1	T	G	11: 100,242,357 (GRCm39)	M382L	probably benign	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,741,179 (GRCm39)	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,458,514 (GRCm39)	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,760,688 (GRCm39)	T426A	possibly damaging	Het
Jup	T	C	11: 100,273,941 (GRCm39)	D200G	probably benign	Het
Kcnq1	T	C	7: 142,748,083 (GRCm39)		probably null	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,852,240 (GRCm39)	H159Q	probably damaging	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Kras	T	C	6: 145,177,879 (GRCm39)	Q131R	probably benign	Het
Krt16	T	A	11: 100,138,457 (GRCm39)	R230S	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,707,067 (GRCm39)	S635P	probably benign	Het
Mapre2	C	A	18: 23,991,190 (GRCm39)	H153N	possibly damaging	Het
Mark3	C	A	12: 111,621,762 (GRCm39)	R703S	probably damaging	Het
Mboat2	A	G	12: 25,009,065 (GRCm39)	D457G	probably benign	Het
Med13	T	C	11: 86,210,675 (GRCm39)	D489G	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mtus1	T	C	8: 41,536,229 (GRCm39)	T496A	probably benign	Het
Nckap5	T	C	1: 125,961,697 (GRCm39)	H204R	probably benign	Het
Nlrc4	G	T	17: 74,753,712 (GRCm39)	P224T	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or13a27	A	T	7: 139,925,236 (GRCm39)	I222N	probably damaging	Het
Or4c116	A	T	2: 88,942,140 (GRCm39)		probably null	Het
Or5an1	T	C	19: 12,260,670 (GRCm39)	L86P	possibly damaging	Het
Or5b121	T	A	19: 13,507,442 (GRCm39)	M135K	probably damaging	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,453,943 (GRCm39)	F108L	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Pdzd7	T	A	19: 45,016,868 (GRCm39)	I886L	possibly damaging	Het
Prune2	C	T	19: 16,980,995 (GRCm39)	P51S	probably damaging	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rab27b	T	C	18: 70,122,659 (GRCm39)	D100G	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Samd14	T	C	11: 94,912,409 (GRCm39)	S233P	probably damaging	Het
Sema6a	C	A	18: 47,433,195 (GRCm39)	V79F	probably damaging	Het
Setbp1	A	G	18: 78,900,697 (GRCm39)	I990T	probably damaging	Het
Setx	A	G	2: 29,070,093 (GRCm39)	R2633G	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,428 (GRCm39)	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,297,342 (GRCm39)		probably null	Het
Snrpf	T	C	10: 93,423,985 (GRCm39)	S2G	probably benign	Het
Speer2	C	A	16: 69,655,708 (GRCm39)	K39N	probably null	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,114,666 (GRCm39)	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119 (GRCm39)	I304T	probably damaging	Het
Tomm7	A	G	5: 24,049,004 (GRCm39)	I23T	probably benign	Het
Top6bl	T	A	19: 4,708,449 (GRCm39)	S194C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,803,167 (GRCm39)	A111V	possibly damaging	Het
Usp47	T	A	7: 111,683,089 (GRCm39)	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdr45b	A	G	11: 121,219,621 (GRCm39)	I309T	probably benign	Het
Wnt6	T	C	1: 74,823,755 (GRCm39)	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,573,449 (GRCm39)	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,911,321 (GRCm39)	W60R	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
R4965:Cacna2d3	UTSW	14	28,704,289 (GRCm39)	missense	probably benign	0.07
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'- TCTGGAGGTTGCAACAAAAGC -3'
(R):5'- TGGTCTGAAGTTTGTTCCAACTTC -3'

Sequencing Primer
(F):5'- TTGCAACAAAAGCTGGCCATG -3'
(R):5'- GTTTGTCATTCTCAGAGGACAAAGG -3'

Posted On

2017-04-24