Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01514:Cacna2d4'

89329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cacna2d4

Ensembl Gene

ENSMUSG00000041460

Gene Name

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

Synonyms

5730412N02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01514

Quality Score

Status

Chromosome

Chromosomal Location

119213487-119329368 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 119259134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140197 (fasta)

Gene Model

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

AlphaFold

Q5RJF7

Predicted Effect

probably benign
Transcript: ENSMUST00000037434

SMART Domains

Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460

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

SMART Domains

Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460

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

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	A	G	2: 93,669,587 (GRCm39)		probably benign	Het
Actl7b	T	C	4: 56,740,677 (GRCm39)	Y227C	probably damaging	Het
Adam26a	A	T	8: 44,021,485 (GRCm39)	H668Q	probably benign	Het
Alcam	A	T	16: 52,094,653 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,144,624 (GRCm39)		probably benign	Het
Atp11b	G	T	3: 35,891,130 (GRCm39)	G801V	probably damaging	Het
C3	G	A	17: 57,522,866 (GRCm39)	T1006I	probably benign	Het
Cldn34b3	A	T	X: 75,310,680 (GRCm39)	I83F	probably damaging	Het
Clec2g	G	A	6: 128,925,736 (GRCm39)	M48I	probably benign	Het
Coch	A	G	12: 51,650,136 (GRCm39)	D375G	probably damaging	Het
Erbb2	C	T	11: 98,323,745 (GRCm39)	T653I	possibly damaging	Het
Etv3	A	G	3: 87,443,025 (GRCm39)	H203R	possibly damaging	Het
Fat4	A	G	3: 39,003,683 (GRCm39)	R1801G	possibly damaging	Het
Gars1	T	A	6: 55,042,505 (GRCm39)	S413T	probably benign	Het
Gnat1	G	A	9: 107,553,500 (GRCm39)	R253C	possibly damaging	Het
Hook3	A	T	8: 26,578,217 (GRCm39)	L91I	possibly damaging	Het
Lrp8	T	C	4: 107,712,881 (GRCm39)	Y377H	probably damaging	Het
Lztr1	G	A	16: 17,340,255 (GRCm39)		probably null	Het
Malt1	A	G	18: 65,609,471 (GRCm39)	D825G	possibly damaging	Het
Nlrp9b	T	C	7: 19,779,859 (GRCm39)		probably null	Het
Or1x2	C	T	11: 50,918,416 (GRCm39)	R196*	probably null	Het
Or2v2	A	T	11: 49,004,403 (GRCm39)	I50N	probably damaging	Het
Orc1	A	G	4: 108,459,249 (GRCm39)	R473G	probably damaging	Het
Pard6g	G	A	18: 80,160,661 (GRCm39)	R258H	probably damaging	Het
Pkdrej	T	C	15: 85,702,264 (GRCm39)	D1224G	possibly damaging	Het
Polr1e	A	G	4: 45,018,723 (GRCm39)	T18A	probably benign	Het
Pycr3	T	C	15: 75,788,853 (GRCm39)	T240A	probably damaging	Het
Ralgapa1	C	A	12: 55,766,442 (GRCm39)	G1284V	probably damaging	Het
Rcl1	T	C	19: 29,120,698 (GRCm39)		probably benign	Het
Sec24c	C	T	14: 20,732,839 (GRCm39)	T134I	possibly damaging	Het
Sis	A	G	3: 72,843,253 (GRCm39)		probably benign	Het
Susd5	A	C	9: 113,897,947 (GRCm39)		probably benign	Het
Tlk1	T	C	2: 70,582,610 (GRCm39)	N173S	probably benign	Het
Uroc1	T	C	6: 90,340,082 (GRCm39)		probably benign	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
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
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

Posted On

2013-12-03