Mutagenetix > Incidental Mutation

Incidental Mutation 'R5928:Cacna2d4'

460004

Institutional Source

Beutler Lab

Gene Symbol

Cacna2d4

Ensembl Gene

ENSMUSG00000041460

Gene Name

calcium channel, voltage-dependent, alpha 2/delta subunit 4

Synonyms

5730412N02Rik

MMRRC Submission

044123-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119236526-119352407 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119281698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 582 (A582S)

Ref Sequence

ENSEMBL: ENSMUSP00000140197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037434] [ENSMUST00000186622]

AlphaFold

Q5RJF7

Predicted Effect

probably benign
Transcript: ENSMUST00000037434
AA Change: A607S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: A607S

Domain	Start	End	E-Value	Type
Blast:WNT1	79	144	1e-13	BLAST
Pfam:VWA_N	155	271	7.3e-40	PFAM
VWA	296	481	4.37e-14	SMART
Pfam:Cache_1	494	586	1.1e-24	PFAM
low complexity region	837	849	N/A	INTRINSIC
low complexity region	975	984	N/A	INTRINSIC
low complexity region	1000	1011	N/A	INTRINSIC
low complexity region	1120	1143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186622
AA Change: A582S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: A582S

Domain	Start	End	E-Value	Type
Blast:WNT1	79	144	1e-13	BLAST
Pfam:VWA_N	155	271	6.4e-44	PFAM
VWA	296	481	2.7e-16	SMART
Pfam:Cache_1	494	559	1.1e-7	PFAM
low complexity region	812	824	N/A	INTRINSIC
low complexity region	950	959	N/A	INTRINSIC
low complexity region	975	986	N/A	INTRINSIC
low complexity region	1095	1118	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190015

Meta Mutation Damage Score

0.1277

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (90/93)

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 a spontaneous mutation exhibit severe loss of retinal signaling associated with abnormal photoreceptor ribbon synapses and cone-rod dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,318,185	I475L	probably benign	Het
Abcc2	C	T	19: 43,819,358	R813W	probably damaging	Het
Adam34	T	C	8: 43,652,030	T193A	probably benign	Het
Adgb	T	C	10: 10,378,787	D1118G	probably damaging	Het
Adprh	A	C	16: 38,447,384	S180A	probably benign	Het
AI314180	A	T	4: 58,849,948	M425K	possibly damaging	Het
Atad5	A	T	11: 80,094,177	D30V	probably damaging	Het
Best3	G	A	10: 117,007,627	D303N	probably damaging	Het
Bmp2k	G	C	5: 97,087,736		probably benign	Het
Btc	A	T	5: 91,366,145	V86E	probably damaging	Het
C530008M17Rik	A	C	5: 76,841,734		probably benign	Het
Carm1	A	G	9: 21,575,302		probably benign	Het
Catsperg1	A	T	7: 29,206,615	S180T	probably damaging	Het
Ccdc185	A	T	1: 182,747,482	H547Q	probably benign	Het
Ccl6	A	G	11: 83,588,832	I115T	possibly damaging	Het
Cd44	C	T	2: 102,824,303	V470M	probably damaging	Het
Cdc25a	T	C	9: 109,889,793	V354A	probably damaging	Het
Cdhr2	C	A	13: 54,734,019	Q1122K	probably benign	Het
Cep290	A	G	10: 100,551,830	K1958E	probably damaging	Het
Cfap53	C	T	18: 74,359,740	P512S	possibly damaging	Het
Chrdl2	A	T	7: 100,009,993		probably benign	Het
Clec7a	A	T	6: 129,465,467	F199Y	probably damaging	Het
Dhx29	A	G	13: 112,964,468	K1182E	probably benign	Het
Dnah11	G	T	12: 117,914,636		probably null	Het
Dnmt3a	A	G	12: 3,866,096	S94G	possibly damaging	Het
Egfem1	T	C	3: 29,582,928	V42A	possibly damaging	Het
Eif3e	T	A	15: 43,275,332		probably null	Het
Exosc9	T	A	3: 36,555,625		probably benign	Het
Fam92a	A	G	4: 12,171,919		probably benign	Het
Fbxw18	T	A	9: 109,700,081	T135S	probably damaging	Het
Fbxw21	T	C	9: 109,143,825	E347G	possibly damaging	Het
Gcm2	A	G	13: 41,103,398	Y292H	probably benign	Het
Gltpd2	C	A	11: 70,519,353	Q46K	probably benign	Het
Gm6741	A	G	17: 91,237,100	Y97C	probably damaging	Het
Golgb1	T	C	16: 36,911,987	L532S	probably damaging	Het
Hdac3	C	T	18: 37,941,341		probably benign	Het
Helz2	A	T	2: 181,230,384	F2554L	possibly damaging	Het
Hmbox1	T	A	14: 64,823,673	H384L	possibly damaging	Het
Hmcn1	G	T	1: 150,598,897	D4746E	possibly damaging	Het
Il17rb	C	A	14: 30,004,275		probably null	Het
Irak2	A	T	6: 113,676,626	I252F	probably damaging	Het
Khnyn	C	T	14: 55,885,887	R33C	probably damaging	Het
Ksr1	G	A	11: 79,059,719	P20L	probably damaging	Het
Lamc3	T	C	2: 31,921,709	Y903H	probably benign	Het
Miga2	T	C	2: 30,368,863		probably benign	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Ncoa4	T	C	14: 32,166,721		probably null	Het
Nphp3	T	C	9: 104,035,797	Y925H	probably benign	Het
Nr2c1	T	G	10: 94,188,193	L420R	probably damaging	Het
Olfr203	G	A	16: 59,303,158	E2K	probably damaging	Het
Olfr74	T	A	2: 87,974,036	S210C	probably benign	Het
Olfr857	A	T	9: 19,713,753	T309S	probably benign	Het
Onecut1	A	G	9: 74,862,784	N163S	probably benign	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Per2	C	T	1: 91,444,651	V234I	probably damaging	Het
Pign	A	G	1: 105,558,067	V735A	possibly damaging	Het
Plekha7	T	C	7: 116,128,574	K85R	probably benign	Het
Pnma2	C	T	14: 66,916,874	T249I	probably benign	Het
Polr2b	A	G	5: 77,345,342	D1057G	probably damaging	Het
Polrmt	A	T	10: 79,740,352	L519H	probably damaging	Het
Ptar1	T	C	19: 23,717,913	I248T	probably benign	Het
Ptprh	A	C	7: 4,573,508	L251R	probably damaging	Het
Purg	T	C	8: 33,386,952	M206T	probably benign	Het
Pwp2	A	T	10: 78,182,456	F134I	probably damaging	Het
Riok3	T	A	18: 12,153,018	H434Q	probably benign	Het
Sorbs2	A	G	8: 45,763,183	I187V	probably damaging	Het
Tbc1d2b	T	C	9: 90,219,144	I598V	probably benign	Het
Tdg	T	A	10: 82,641,370	V85E	probably benign	Het
Tfb1m	C	T	17: 3,543,147	V166I	probably benign	Het
Tmem163	A	T	1: 127,491,646	M274K	probably damaging	Het
Tpr	T	C	1: 150,428,127	I1343T	probably benign	Het
Ttn	T	A	2: 76,889,450		probably benign	Het
Usp34	A	G	11: 23,436,040	T2156A	probably damaging	Het
Vmn1r215	A	T	13: 23,076,317	T176S	possibly damaging	Het
Vps52	C	T	17: 33,961,126	P268L	possibly damaging	Het
Xbp1	G	A	11: 5,523,514		probably benign	Het
Ythdc2	T	A	18: 44,833,205	F169L	probably benign	Het
Zcchc6	G	A	13: 59,822,066	A5V	probably benign	Het
Zfyve16	T	C	13: 92,522,117	R429G	probably benign	Het
Zzef1	A	G	11: 72,912,852	E2504G	probably damaging	Het

Other mutations in Cacna2d4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Cacna2d4	APN	6	119337933	splice site	probably benign
IGL00469:Cacna2d4	APN	6	119268278	missense	probably damaging	1.00
IGL00518:Cacna2d4	APN	6	119343575	missense	probably damaging	1.00
IGL00946:Cacna2d4	APN	6	119271915	missense	possibly damaging	0.82
IGL01447:Cacna2d4	APN	6	119242904	missense	probably damaging	1.00
IGL01514:Cacna2d4	APN	6	119282173	splice site	probably benign
IGL01576:Cacna2d4	APN	6	119281641	nonsense	probably null
IGL01934:Cacna2d4	APN	6	119308768	missense	probably damaging	1.00
IGL02231:Cacna2d4	APN	6	119277908	splice site	probably benign
IGL02516:Cacna2d4	APN	6	119271870	splice site	probably benign
IGL02688:Cacna2d4	APN	6	119270749	splice site	probably null
IGL03110:Cacna2d4	APN	6	119236737	missense	probably benign	0.05
IGL03365:Cacna2d4	APN	6	119271264	missense	probably benign	0.15
saccharine	UTSW	6	119345106	splice site	probably benign
Steveo	UTSW	6	119347252	critical splice donor site	probably null
Sussmann	UTSW	6	119274318	missense	probably damaging	1.00
R0139:Cacna2d4	UTSW	6	119278269	intron	probably benign
R0157:Cacna2d4	UTSW	6	119312424	missense	probably benign	0.00
R0158:Cacna2d4	UTSW	6	119236748	missense	possibly damaging	0.68
R0245:Cacna2d4	UTSW	6	119308721	missense	probably damaging	1.00
R0612:Cacna2d4	UTSW	6	119281718	splice site	probably benign
R0659:Cacna2d4	UTSW	6	119345106	splice site	probably benign
R0722:Cacna2d4	UTSW	6	119307286	missense	probably damaging	1.00
R0743:Cacna2d4	UTSW	6	119307286	missense	probably damaging	1.00
R0833:Cacna2d4	UTSW	6	119307286	missense	probably damaging	1.00
R0835:Cacna2d4	UTSW	6	119307286	missense	probably damaging	1.00
R0836:Cacna2d4	UTSW	6	119307286	missense	probably damaging	1.00
R0884:Cacna2d4	UTSW	6	119307286	missense	probably damaging	1.00
R1052:Cacna2d4	UTSW	6	119300333	missense	probably damaging	1.00
R1168:Cacna2d4	UTSW	6	119307286	missense	probably damaging	1.00
R1170:Cacna2d4	UTSW	6	119307286	missense	probably damaging	1.00
R1451:Cacna2d4	UTSW	6	119236824	missense	probably benign	0.01
R1564:Cacna2d4	UTSW	6	119241195	missense	possibly damaging	0.67
R1809:Cacna2d4	UTSW	6	119270824	missense	probably damaging	0.99
R1936:Cacna2d4	UTSW	6	119270761	missense	possibly damaging	0.82
R2078:Cacna2d4	UTSW	6	119338116	missense	probably benign	0.02
R2198:Cacna2d4	UTSW	6	119347259	splice site	probably benign
R2280:Cacna2d4	UTSW	6	119350041	missense	possibly damaging	0.85
R3757:Cacna2d4	UTSW	6	119241163	missense	probably damaging	0.98
R3975:Cacna2d4	UTSW	6	119278173	splice site	probably null
R3976:Cacna2d4	UTSW	6	119278173	splice site	probably null
R4238:Cacna2d4	UTSW	6	119240708	missense	probably null	1.00
R4591:Cacna2d4	UTSW	6	119298464	missense	probably benign	0.02
R4856:Cacna2d4	UTSW	6	119278256	missense	possibly damaging	0.90
R4899:Cacna2d4	UTSW	6	119268196	nonsense	probably null
R5319:Cacna2d4	UTSW	6	119347252	critical splice donor site	probably null
R5351:Cacna2d4	UTSW	6	119268201	missense	probably damaging	1.00
R5366:Cacna2d4	UTSW	6	119274318	missense	probably damaging	1.00
R5393:Cacna2d4	UTSW	6	119239054	missense	probably benign	0.20
R5395:Cacna2d4	UTSW	6	119271418	missense	possibly damaging	0.71
R5408:Cacna2d4	UTSW	6	119348791	missense	probably damaging	1.00
R5603:Cacna2d4	UTSW	6	119244285	missense	probably damaging	1.00
R5661:Cacna2d4	UTSW	6	119343531	missense	probably benign
R5898:Cacna2d4	UTSW	6	119274231	missense	probably damaging	1.00
R6186:Cacna2d4	UTSW	6	119281689	missense	possibly damaging	0.94
R6218:Cacna2d4	UTSW	6	119239060	missense	probably damaging	0.99
R6257:Cacna2d4	UTSW	6	119281619	critical splice acceptor site	probably null
R6409:Cacna2d4	UTSW	6	119282228	missense	probably damaging	0.99
R6931:Cacna2d4	UTSW	6	119282234	missense	possibly damaging	0.49
R7221:Cacna2d4	UTSW	6	119236663	missense	probably benign	0.02
R7363:Cacna2d4	UTSW	6	119343978	missense	probably damaging	1.00
R7371:Cacna2d4	UTSW	6	119308709	missense	probably benign	0.07
R7382:Cacna2d4	UTSW	6	119239087	missense	probably damaging	1.00
R7431:Cacna2d4	UTSW	6	119244276	missense	probably damaging	0.98
R7517:Cacna2d4	UTSW	6	119271921	missense	probably benign	0.01
R7527:Cacna2d4	UTSW	6	119271247	missense	probably benign	0.00
R7529:Cacna2d4	UTSW	6	119270766	missense	probably benign	0.01
R7710:Cacna2d4	UTSW	6	119274239	missense	probably benign	0.05
R7880:Cacna2d4	UTSW	6	119349155	missense	probably damaging	0.99
R8007:Cacna2d4	UTSW	6	119312444	missense	probably benign
R8084:Cacna2d4	UTSW	6	119300352	missense	probably damaging	1.00
R8159:Cacna2d4	UTSW	6	119297527	missense	probably benign	0.01
R8391:Cacna2d4	UTSW	6	119348745	missense	probably benign	0.04
R8700:Cacna2d4	UTSW	6	119281693	missense	probably damaging	1.00
R8857:Cacna2d4	UTSW	6	119271948	nonsense	probably null
R8973:Cacna2d4	UTSW	6	119241181	missense	probably damaging	1.00
R8976:Cacna2d4	UTSW	6	119338157	missense	possibly damaging	0.79
R8998:Cacna2d4	UTSW	6	119242915	missense	possibly damaging	0.90
R9129:Cacna2d4	UTSW	6	119336454	critical splice donor site	probably null
R9199:Cacna2d4	UTSW	6	119267826	missense	probably benign	0.12
R9228:Cacna2d4	UTSW	6	119271515	missense	probably benign	0.07
R9310:Cacna2d4	UTSW	6	119271953	critical splice donor site	probably null
R9315:Cacna2d4	UTSW	6	119236709	missense	probably benign
R9335:Cacna2d4	UTSW	6	119302053	missense	probably damaging	1.00
R9416:Cacna2d4	UTSW	6	119297518	missense	probably benign	0.06
R9514:Cacna2d4	UTSW	6	119236650	missense	probably benign
R9600:Cacna2d4	UTSW	6	119345062	missense	probably benign	0.02
RF023:Cacna2d4	UTSW	6	119268230	missense	probably benign	0.19
Z1176:Cacna2d4	UTSW	6	119312450	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CAAGCTTTGCACTGAGTGTAAG -3'
(R):5'- TCAGTAACCTGTGACACCAGG -3'

Sequencing Primer
(F):5'- AAGCTTTGCACTGAGTGTAAGTTTGG -3'
(R):5'- GGTCATGGCTCAATATCCACAGTTG -3'

Posted On

2017-02-28