Mutagenetix > Incidental Mutation

Incidental Mutation 'R9199:Cacna2d4'

698098

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 #

R9199 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119213487-119329368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119244787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 274 (D274E)

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: D274E

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: D274E

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: D274E

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: D274E

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 88,971,654 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,056,770 (GRCm39)	C17S	possibly damaging	Het
Acan	T	G	7: 78,736,057 (GRCm39)	F168V	probably damaging	Het
Acp7	A	G	7: 28,316,591 (GRCm39)	L128P	probably benign	Het
Agtpbp1	C	A	13: 59,613,808 (GRCm39)	M1044I	probably benign	Het
Arhgef3	A	G	14: 27,122,244 (GRCm39)	Q361R	possibly damaging	Het
Brdt	A	T	5: 107,498,029 (GRCm39)	R235*	probably null	Het
Cacna1d	A	G	14: 29,764,893 (GRCm39)	S2013P	probably benign	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Ceacam5	C	G	7: 17,479,350 (GRCm39)	L156V	probably benign	Het
Cenpn	G	A	8: 117,664,014 (GRCm39)		probably null	Het
Cfap69	A	T	5: 5,668,952 (GRCm39)	V385E	possibly damaging	Het
Cldnd1	A	G	16: 58,553,070 (GRCm39)	H177R	probably damaging	Het
Cr1l	A	T	1: 194,786,177 (GRCm39)	V439D	probably benign	Het
Cul2	A	G	18: 3,423,577 (GRCm39)	N329S	probably benign	Het
Cyp2c66	A	G	19: 39,130,800 (GRCm39)	K138R	probably benign	Het
Ddx46	G	A	13: 55,825,342 (GRCm39)	E996K	probably damaging	Het
Dnah14	A	G	1: 181,478,566 (GRCm39)	K1444E	possibly damaging	Het
Evl	G	A	12: 108,647,814 (GRCm39)		probably null	Het
Flnc	C	T	6: 29,441,490 (GRCm39)	T424I	probably benign	Het
Gadd45gip1	T	A	8: 85,559,128 (GRCm39)	V70E	probably damaging	Het
Garem2	A	G	5: 30,319,471 (GRCm39)	H311R	probably damaging	Het
Gm32742	G	C	9: 51,060,607 (GRCm39)	H899D	possibly damaging	Het
Gm5148	C	T	3: 37,768,989 (GRCm39)	C77Y	probably benign	Het
Gm5460	A	G	14: 33,758,393 (GRCm39)	D141G	possibly damaging	Het
Kcnj8	T	C	6: 142,512,118 (GRCm39)	N163S	probably damaging	Het
Klri1	A	T	6: 129,674,264 (GRCm39)	*249R	probably null	Het
Kmt5b	A	G	19: 3,865,525 (GRCm39)	D863G	probably damaging	Het
Ltbp2	G	T	12: 84,832,750 (GRCm39)	T1538K	probably benign	Het
Or51ah3	G	A	7: 103,210,143 (GRCm39)	G153D	probably damaging	Het
Or5b120	A	G	19: 13,480,436 (GRCm39)	H243R	probably damaging	Het
Pheta2	A	T	15: 82,227,877 (GRCm39)	E132V	probably damaging	Het
Pramel16	A	G	4: 143,675,656 (GRCm39)	L390P	probably damaging	Het
Ptchd3	A	G	11: 121,721,741 (GRCm39)	I205V	probably benign	Het
Rab8b	G	A	9: 66,758,641 (GRCm39)	A152V	probably damaging	Het
Rasef	T	C	4: 73,658,625 (GRCm39)	D343G	possibly damaging	Het
Rcan2	G	A	17: 44,264,423 (GRCm39)	V28I	probably benign	Het
Sec1	G	A	7: 45,328,009 (GRCm39)	T346M	probably benign	Het
Sgk1	T	A	10: 21,758,558 (GRCm39)	N7K	probably damaging	Het
Slc39a12	A	T	2: 14,394,321 (GRCm39)	I64F	possibly damaging	Het
Spock3	A	G	8: 63,798,764 (GRCm39)	T259A	probably damaging	Het
Sypl1	A	T	12: 33,016,463 (GRCm39)		probably benign	Het
Teddm2	G	T	1: 153,726,767 (GRCm39)	Q36K	probably damaging	Het
Tlr1	A	G	5: 65,083,534 (GRCm39)	S348P	possibly damaging	Het
Ttll12	A	G	15: 83,466,559 (GRCm39)	F336S	probably damaging	Het
Ttll8	G	A	15: 88,798,818 (GRCm39)	P639L	probably benign	Het
Usp24	T	C	4: 106,244,681 (GRCm39)	V1212A	probably damaging	Het
Vcan	C	A	13: 89,838,615 (GRCm39)	G2310*	probably null	Het
Vmn2r104	A	T	17: 20,262,097 (GRCm39)	N344K	probably damaging	Het
Zfp281	A	G	1: 136,553,643 (GRCm39)	N207S	probably benign	Het
Zfp534	T	A	4: 147,760,439 (GRCm39)	M77L	probably benign	Het
Zfp819	G	A	7: 43,267,203 (GRCm39)	S562N	probably benign	Het
Zmym1	C	T	4: 126,944,623 (GRCm39)	C188Y	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
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
R9416:Cacna2d4	UTSW	6	119,274,479 (GRCm39)	missense	probably benign	0.06
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'- AGCTGCTGCAGTTTACAGGG -3'
(R):5'- TGTTGTGACCCCTGGACATG -3'

Sequencing Primer
(F):5'- TTACAGGGTGTAGCTTAGCACCC -3'
(R):5'- GAAGTAAGCCTTCTTATTCCTTGG -3'

Posted On

2022-02-07