Mutagenetix > Incidental Mutation

Incidental Mutation 'R9416:Cacna2d4'

712048

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9416 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119213487-119329368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119274479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 622 (D622V)

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: D647V

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: D647V

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: D622V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: D622V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	T	4: 86,342,477 (GRCm39)	T1672I	probably damaging	Het
Ahnak	T	G	19: 8,990,266 (GRCm39)	M3850R	unknown	Het
Cacna1s	T	A	1: 136,022,689 (GRCm39)	L874Q	possibly damaging	Het
Ccdc150	T	C	1: 54,317,990 (GRCm39)	S310P	probably damaging	Het
Cecr2	A	T	6: 120,735,538 (GRCm39)	N148Y		Het
Celsr2	T	C	3: 108,322,084 (GRCm39)	T243A	probably damaging	Het
Coro1b	C	T	19: 4,201,473 (GRCm39)	T279I	probably damaging	Het
Cyp51	A	G	5: 4,150,198 (GRCm39)	I175T	probably damaging	Het
Dnajc21	T	C	15: 10,462,048 (GRCm39)	I118V	possibly damaging	Het
Dtna	T	C	18: 23,780,112 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,748,784 (GRCm39)	K374R	probably benign	Het
Fance	G	A	17: 28,537,327 (GRCm39)	C53Y	probably damaging	Het
Gm14496	G	T	2: 181,640,647 (GRCm39)	C538F	probably damaging	Het
Gon4l	T	A	3: 88,803,538 (GRCm39)	V1383D	probably benign	Het
Gpr6	C	A	10: 40,946,944 (GRCm39)	D213Y	possibly damaging	Het
Has2	A	G	15: 56,531,684 (GRCm39)	Y344H	probably damaging	Het
Kcnh2	A	T	5: 24,537,964 (GRCm39)	M133K	probably benign	Het
Kdm5a	A	G	6: 120,365,056 (GRCm39)	H152R	probably damaging	Het
Klhl33	C	T	14: 51,130,225 (GRCm39)	R163H	probably damaging	Het
Lax1	T	A	1: 133,611,752 (GRCm39)	Q61L	probably benign	Het
Lct	T	C	1: 128,228,329 (GRCm39)	T1055A	possibly damaging	Het
Lrrc8c	A	G	5: 105,756,163 (GRCm39)	Y646C	possibly damaging	Het
Mtarc1	T	C	1: 184,527,633 (GRCm39)	T274A	probably benign	Het
Myo1b	A	G	1: 51,902,577 (GRCm39)	V51A	probably damaging	Het
Naip2	T	A	13: 100,298,243 (GRCm39)	S598C	probably damaging	Het
Neb	A	G	2: 52,137,215 (GRCm39)	S250P		Het
Nim1k	A	T	13: 120,189,362 (GRCm39)	C16S	probably benign	Het
Oosp1	T	C	19: 11,664,769 (GRCm39)	T96A	probably damaging	Het
Or1e1c	T	C	11: 73,265,790 (GRCm39)	S75P	probably damaging	Het
Or2q1	G	T	6: 42,795,197 (GRCm39)	R264L	probably benign	Het
Or8k17	T	A	2: 86,066,744 (GRCm39)	Q138L	probably damaging	Het
Pik3c2b	C	T	1: 133,005,187 (GRCm39)	R563C	probably damaging	Het
Ppp1r18	CGAGGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGAGGA	17: 36,184,743 (GRCm39)		probably benign	Het
Prps1l1	T	A	12: 35,035,089 (GRCm39)	M68K		Het
Prr11	A	T	11: 86,992,254 (GRCm39)	L207*	probably null	Het
Psme3	T	C	11: 101,211,559 (GRCm39)	Y202H	probably damaging	Het
Ptma	A	G	1: 86,455,694 (GRCm39)	S57G	unknown	Het
Rab24	A	G	13: 55,468,049 (GRCm39)	V33A	unknown	Het
Reep6	A	G	10: 80,166,091 (GRCm39)	T83A	probably benign	Het
Semp2l2b	C	T	10: 21,943,752 (GRCm39)	R76Q	probably benign	Het
Shroom4	GCAACAACAACAACAACAACAACAACA	GCAACAACAACAACAACAACAACA	X: 6,536,131 (GRCm39)		probably benign	Het
Siglec1	T	C	2: 130,925,390 (GRCm39)	K357R	probably benign	Het
Slc2a4	T	A	11: 69,836,728 (GRCm39)	H167L	probably benign	Het
Slc8a3	T	A	12: 81,361,838 (GRCm39)	H327L	probably benign	Het
Slf1	G	A	13: 77,194,656 (GRCm39)	L890F		Het
Smchd1	A	C	17: 71,701,791 (GRCm39)	I1067R	probably benign	Het
Stk33	T	A	7: 108,940,689 (GRCm39)	N7I	probably benign	Het
Tex47	T	C	5: 7,355,194 (GRCm39)	M125T	possibly damaging	Het
Thada	A	T	17: 84,766,292 (GRCm39)	L38*	probably null	Het
Thbs1	A	G	2: 117,947,983 (GRCm39)	D381G	probably benign	Het
Uggt1	A	T	1: 36,203,603 (GRCm39)	V1009D		Het
Usp17la	A	T	7: 104,508,531 (GRCm39)		probably benign	Het
Zfp438	A	T	18: 5,214,054 (GRCm39)	N301K	probably benign	Het
Zfp606	T	A	7: 12,227,907 (GRCm39)	I676N	possibly damaging	Het

Other mutations in Cacna2d4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Cacna2d4	APN	6	119,314,894 (GRCm39)	splice site	probably benign
IGL00469:Cacna2d4	APN	6	119,245,239 (GRCm39)	missense	probably damaging	1.00
IGL00518:Cacna2d4	APN	6	119,320,536 (GRCm39)	missense	probably damaging	1.00
IGL00946:Cacna2d4	APN	6	119,248,876 (GRCm39)	missense	possibly damaging	0.82
IGL01447:Cacna2d4	APN	6	119,219,865 (GRCm39)	missense	probably damaging	1.00
IGL01514:Cacna2d4	APN	6	119,259,134 (GRCm39)	splice site	probably benign
IGL01576:Cacna2d4	APN	6	119,258,602 (GRCm39)	nonsense	probably null
IGL01934:Cacna2d4	APN	6	119,285,729 (GRCm39)	missense	probably damaging	1.00
IGL02231:Cacna2d4	APN	6	119,254,869 (GRCm39)	splice site	probably benign
IGL02516:Cacna2d4	APN	6	119,248,831 (GRCm39)	splice site	probably benign
IGL02688:Cacna2d4	APN	6	119,247,710 (GRCm39)	splice site	probably null
IGL03110:Cacna2d4	APN	6	119,213,698 (GRCm39)	missense	probably benign	0.05
IGL03365:Cacna2d4	APN	6	119,248,225 (GRCm39)	missense	probably benign	0.15
saccharine	UTSW	6	119,322,067 (GRCm39)	splice site	probably benign
Steveo	UTSW	6	119,324,213 (GRCm39)	critical splice donor site	probably null
Sussmann	UTSW	6	119,251,279 (GRCm39)	missense	probably damaging	1.00
R0139:Cacna2d4	UTSW	6	119,255,230 (GRCm39)	intron	probably benign
R0157:Cacna2d4	UTSW	6	119,289,385 (GRCm39)	missense	probably benign	0.00
R0158:Cacna2d4	UTSW	6	119,213,709 (GRCm39)	missense	possibly damaging	0.68
R0245:Cacna2d4	UTSW	6	119,285,682 (GRCm39)	missense	probably damaging	1.00
R0612:Cacna2d4	UTSW	6	119,258,679 (GRCm39)	splice site	probably benign
R0659:Cacna2d4	UTSW	6	119,322,067 (GRCm39)	splice site	probably benign
R0722:Cacna2d4	UTSW	6	119,284,247 (GRCm39)	missense	probably damaging	1.00
R0743:Cacna2d4	UTSW	6	119,284,247 (GRCm39)	missense	probably damaging	1.00
R0833:Cacna2d4	UTSW	6	119,284,247 (GRCm39)	missense	probably damaging	1.00
R0835:Cacna2d4	UTSW	6	119,284,247 (GRCm39)	missense	probably damaging	1.00
R0836:Cacna2d4	UTSW	6	119,284,247 (GRCm39)	missense	probably damaging	1.00
R0884:Cacna2d4	UTSW	6	119,284,247 (GRCm39)	missense	probably damaging	1.00
R1052:Cacna2d4	UTSW	6	119,277,294 (GRCm39)	missense	probably damaging	1.00
R1168:Cacna2d4	UTSW	6	119,284,247 (GRCm39)	missense	probably damaging	1.00
R1170:Cacna2d4	UTSW	6	119,284,247 (GRCm39)	missense	probably damaging	1.00
R1451:Cacna2d4	UTSW	6	119,213,785 (GRCm39)	missense	probably benign	0.01
R1564:Cacna2d4	UTSW	6	119,218,156 (GRCm39)	missense	possibly damaging	0.67
R1809:Cacna2d4	UTSW	6	119,247,785 (GRCm39)	missense	probably damaging	0.99
R1936:Cacna2d4	UTSW	6	119,247,722 (GRCm39)	missense	possibly damaging	0.82
R2078:Cacna2d4	UTSW	6	119,315,077 (GRCm39)	missense	probably benign	0.02
R2198:Cacna2d4	UTSW	6	119,324,220 (GRCm39)	splice site	probably benign
R2280:Cacna2d4	UTSW	6	119,327,002 (GRCm39)	missense	possibly damaging	0.85
R3757:Cacna2d4	UTSW	6	119,218,124 (GRCm39)	missense	probably damaging	0.98
R3975:Cacna2d4	UTSW	6	119,255,134 (GRCm39)	splice site	probably null
R3976:Cacna2d4	UTSW	6	119,255,134 (GRCm39)	splice site	probably null
R4238:Cacna2d4	UTSW	6	119,217,669 (GRCm39)	missense	probably null	1.00
R4591:Cacna2d4	UTSW	6	119,275,425 (GRCm39)	missense	probably benign	0.02
R4856:Cacna2d4	UTSW	6	119,255,217 (GRCm39)	missense	possibly damaging	0.90
R4899:Cacna2d4	UTSW	6	119,245,157 (GRCm39)	nonsense	probably null
R5319:Cacna2d4	UTSW	6	119,324,213 (GRCm39)	critical splice donor site	probably null
R5351:Cacna2d4	UTSW	6	119,245,162 (GRCm39)	missense	probably damaging	1.00
R5366:Cacna2d4	UTSW	6	119,251,279 (GRCm39)	missense	probably damaging	1.00
R5393:Cacna2d4	UTSW	6	119,216,015 (GRCm39)	missense	probably benign	0.20
R5395:Cacna2d4	UTSW	6	119,248,379 (GRCm39)	missense	possibly damaging	0.71
R5408:Cacna2d4	UTSW	6	119,325,752 (GRCm39)	missense	probably damaging	1.00
R5603:Cacna2d4	UTSW	6	119,221,246 (GRCm39)	missense	probably damaging	1.00
R5661:Cacna2d4	UTSW	6	119,320,492 (GRCm39)	missense	probably benign
R5898:Cacna2d4	UTSW	6	119,251,192 (GRCm39)	missense	probably damaging	1.00
R5928:Cacna2d4	UTSW	6	119,258,659 (GRCm39)	missense	probably benign	0.06
R6186:Cacna2d4	UTSW	6	119,258,650 (GRCm39)	missense	possibly damaging	0.94
R6218:Cacna2d4	UTSW	6	119,216,021 (GRCm39)	missense	probably damaging	0.99
R6257:Cacna2d4	UTSW	6	119,258,580 (GRCm39)	critical splice acceptor site	probably null
R6409:Cacna2d4	UTSW	6	119,259,189 (GRCm39)	missense	probably damaging	0.99
R6931:Cacna2d4	UTSW	6	119,259,195 (GRCm39)	missense	possibly damaging	0.49
R7221:Cacna2d4	UTSW	6	119,213,624 (GRCm39)	missense	probably benign	0.02
R7363:Cacna2d4	UTSW	6	119,320,939 (GRCm39)	missense	probably damaging	1.00
R7371:Cacna2d4	UTSW	6	119,285,670 (GRCm39)	missense	probably benign	0.07
R7382:Cacna2d4	UTSW	6	119,216,048 (GRCm39)	missense	probably damaging	1.00
R7431:Cacna2d4	UTSW	6	119,221,237 (GRCm39)	missense	probably damaging	0.98
R7517:Cacna2d4	UTSW	6	119,248,882 (GRCm39)	missense	probably benign	0.01
R7527:Cacna2d4	UTSW	6	119,248,208 (GRCm39)	missense	probably benign	0.00
R7529:Cacna2d4	UTSW	6	119,247,727 (GRCm39)	missense	probably benign	0.01
R7710:Cacna2d4	UTSW	6	119,251,200 (GRCm39)	missense	probably benign	0.05
R7880:Cacna2d4	UTSW	6	119,326,116 (GRCm39)	missense	probably damaging	0.99
R8007:Cacna2d4	UTSW	6	119,289,405 (GRCm39)	missense	probably benign
R8084:Cacna2d4	UTSW	6	119,277,313 (GRCm39)	missense	probably damaging	1.00
R8159:Cacna2d4	UTSW	6	119,274,488 (GRCm39)	missense	probably benign	0.01
R8391:Cacna2d4	UTSW	6	119,325,706 (GRCm39)	missense	probably benign	0.04
R8700:Cacna2d4	UTSW	6	119,258,654 (GRCm39)	missense	probably damaging	1.00
R8857:Cacna2d4	UTSW	6	119,248,909 (GRCm39)	nonsense	probably null
R8973:Cacna2d4	UTSW	6	119,218,142 (GRCm39)	missense	probably damaging	1.00
R8976:Cacna2d4	UTSW	6	119,315,118 (GRCm39)	missense	possibly damaging	0.79
R8998:Cacna2d4	UTSW	6	119,219,876 (GRCm39)	missense	possibly damaging	0.90
R9129:Cacna2d4	UTSW	6	119,313,415 (GRCm39)	critical splice donor site	probably null
R9199:Cacna2d4	UTSW	6	119,244,787 (GRCm39)	missense	probably benign	0.12
R9228:Cacna2d4	UTSW	6	119,248,476 (GRCm39)	missense	probably benign	0.07
R9310:Cacna2d4	UTSW	6	119,248,914 (GRCm39)	critical splice donor site	probably null
R9315:Cacna2d4	UTSW	6	119,213,670 (GRCm39)	missense	probably benign
R9335:Cacna2d4	UTSW	6	119,279,014 (GRCm39)	missense	probably damaging	1.00
R9514:Cacna2d4	UTSW	6	119,213,611 (GRCm39)	missense	probably benign
R9600:Cacna2d4	UTSW	6	119,322,023 (GRCm39)	missense	probably benign	0.02
RF023:Cacna2d4	UTSW	6	119,245,191 (GRCm39)	missense	probably benign	0.19
Z1176:Cacna2d4	UTSW	6	119,289,411 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CAGTGTGCTGACCTATGAGC -3'
(R):5'- CATTTAGGCACAGCAGCTCTC -3'

Sequencing Primer
(F):5'- TCTGTCCATAAAAGGGGCTG -3'
(R):5'- CATTTCCTGAATGCTAGCTGACCAG -3'

Posted On

2022-05-16