Mutagenetix > Incidental Mutations

Incidental Mutation 'R2078:Cacna2d4'

229276

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

040083-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2078 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119236526-119352407 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119338116 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 869 (D869V)

Ref Sequence

ENSEMBL: ENSMUSP00000140197 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000037434
AA Change: D894V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: D894V

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

noncoding transcript
Transcript: ENSMUST00000185965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186203

Predicted Effect

probably benign
Transcript: ENSMUST00000186622
AA Change: D869V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: D869V

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: ENSMUST00000186702

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	A	1: 75,172,136	G55C	probably damaging	Het
Acss3	T	C	10: 106,967,041	T448A	possibly damaging	Het
Atxn7	A	G	14: 14,052,975	N138D	probably damaging	Het
Cps1	T	G	1: 67,157,806	Y339D	probably damaging	Het
Cps1	T	C	1: 67,195,265	I937T	possibly damaging	Het
Dlgap4	T	C	2: 156,762,826	S261P	probably damaging	Het
Dusp6	T	C	10: 99,263,824	Y45H	probably damaging	Het
Ebag9	A	G	15: 44,636,804	N157S	probably damaging	Het
Exoc4	A	G	6: 33,910,587	D770G	probably benign	Het
Ezr	A	G	17: 6,782,642	M1T	probably null	Het
Fat4	A	G	3: 38,889,673	N905S	probably damaging	Het
Fcrlb	C	G	1: 170,908,081	R208P	probably damaging	Het
Flnb	T	C	14: 7,927,466	V1892A	probably damaging	Het
Gas2	G	A	7: 51,897,325	V75M	probably benign	Het
Gda	T	A	19: 21,400,672	D267V	probably damaging	Het
Gper1	A	T	5: 139,426,133	I78F	probably benign	Het
Hectd1	A	C	12: 51,748,542	I2368S	probably damaging	Het
Katna1	C	T	10: 7,743,569	P114S	probably benign	Het
Lce3c	G	A	3: 92,945,451	S73N	unknown	Het
Lrfn3	A	T	7: 30,360,454	D115E	possibly damaging	Het
Lrrc47	C	A	4: 154,019,431	T505K	probably damaging	Het
Mertk	C	T	2: 128,794,458	T784I	probably damaging	Het
Mettl21e	T	A	1: 44,206,502	I195F	possibly damaging	Het
Mff	T	C	1: 82,741,921	S207P	probably damaging	Het
Mtmr6	A	G	14: 60,291,987		probably null	Het
Myh9	T	C	15: 77,763,912	K1788R	probably benign	Het
Narf	A	G	11: 121,245,394	T199A	probably benign	Het
Neurod6	A	G	6: 55,678,969	S228P	probably benign	Het
Notch4	A	T	17: 34,568,715		probably null	Het
Nyap2	T	C	1: 81,191,981	L151P	probably damaging	Het
Olfr1444	T	A	19: 12,862,387	V204E	probably benign	Het
P2ry1	A	G	3: 61,003,697	I86V	probably damaging	Het
Pafah1b2	G	T	9: 45,968,829	D183E	probably damaging	Het
Phldb1	T	C	9: 44,707,979	E179G	probably damaging	Het
Piezo2	T	C	18: 63,117,720	E436G	probably damaging	Het
Pkhd1l1	A	G	15: 44,527,767	I1514V	probably benign	Het
Plch1	A	G	3: 63,701,943	S948P	probably benign	Het
Rfc5	A	G	5: 117,380,803	V296A	probably benign	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rsbn1	A	G	3: 103,961,523	D626G	probably damaging	Het
Sfswap	A	G	5: 129,516,107	D346G	possibly damaging	Het
Slc38a11	A	T	2: 65,330,384	F289I	possibly damaging	Het
Terf2ip	A	G	8: 112,015,403	N243S	probably benign	Het
Tmed5	A	T	5: 108,124,605	V209E	probably damaging	Het
Tmem63b	A	G	17: 45,663,536	S603P	possibly damaging	Het
Tomm20	T	C	8: 126,937,072	M121V	possibly damaging	Het
Tspan33	G	A	6: 29,709,971	V45I	probably benign	Het
Usp17la	A	T	7: 104,859,393	M1L	probably benign	Het
Vsig8	C	A	1: 172,563,289	D301E	probably benign	Het
Vwa8	T	A	14: 78,908,157	H91Q	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
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	intron	probably null
R3976:Cacna2d4	UTSW	6	119278173	intron	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
R5928:Cacna2d4	UTSW	6	119281698	missense	probably benign	0.06
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
R7963:Cacna2d4	UTSW	6	119349155	missense	probably damaging	0.99
R8007:Cacna2d4	UTSW	6	119312444	missense	probably benign
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'- TCCAGTGCAACGCTGTAGAG -3'
(R):5'- TTCTACCCAGATTTGCACCG -3'

Sequencing Primer
(F):5'- GGACACTGTAAGTTCTTCCCAGAG -3'
(R):5'- CCAGATTTGCACCGTTATAGTGGAAG -3'

Posted On

2014-09-17