Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03365:Cacna2d4'

420049

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 #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

119213487-119329368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119248225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 380 (V380L)

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: V380L

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

SMART Domains

Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: V380L

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: ENSMUST00000186176

Predicted Effect

probably benign
Transcript: ENSMUST00000186622
AA Change: V380L

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: V380L

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: ENSMUST00000187222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191331

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 25,202,809 (GRCm39)		probably benign	Het
Adam6a	T	A	12: 113,507,765 (GRCm39)	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,359,380 (GRCm39)	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,633,851 (GRCm39)	P307S	probably benign	Het
Aoc1l3	A	G	6: 48,965,531 (GRCm39)	D513G	probably damaging	Het
Asxl1	T	A	2: 153,243,674 (GRCm39)	I1408N	probably damaging	Het
Avil	T	C	10: 126,846,852 (GRCm39)	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,831,204 (GRCm39)	Q257K	possibly damaging	Het
Clip1	A	C	5: 123,721,649 (GRCm39)	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,725,663 (GRCm39)		probably null	Het
Dock8	C	T	19: 25,077,048 (GRCm39)	P506L	possibly damaging	Het
Ecsit	A	C	9: 21,987,822 (GRCm39)	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,323,186 (GRCm39)	D15E	probably benign	Het
Enpp1	A	G	10: 24,544,923 (GRCm39)	Y319H	probably damaging	Het
Fat3	T	C	9: 15,907,765 (GRCm39)	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,732,932 (GRCm39)	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,138,230 (GRCm39)	R775W	probably damaging	Het
Hycc1	A	T	5: 24,188,158 (GRCm39)	Y245N	probably benign	Het
Lrp12	A	T	15: 39,735,917 (GRCm39)	S672T	probably benign	Het
Morf4l2	A	G	X: 135,634,464 (GRCm39)	Y255H	probably benign	Het
Mri1	A	G	8: 84,978,262 (GRCm39)	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,272,314 (GRCm39)	M1K	probably null	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Ofd1	C	A	X: 165,175,512 (GRCm39)	V951F	probably damaging	Het
Or4k51	G	T	2: 111,584,772 (GRCm39)	M59I	possibly damaging	Het
Or51r1	G	T	7: 102,227,836 (GRCm39)	V45F	probably benign	Het
Or6c208	T	A	10: 129,224,108 (GRCm39)	V202D	possibly damaging	Het
Parp12	G	A	6: 39,079,581 (GRCm39)	R310W	probably damaging	Het
Pcdh11x	T	A	X: 119,425,935 (GRCm39)	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993 (GRCm39)		probably benign	Het
Ptprz1	T	A	6: 23,030,581 (GRCm39)		probably benign	Het
Qser1	T	A	2: 104,617,344 (GRCm39)	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,607,912 (GRCm39)	D59E	probably benign	Het
Rims2	T	C	15: 39,339,937 (GRCm39)	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,855,078 (GRCm39)	V263M	possibly damaging	Het
Scart2	T	A	7: 139,876,682 (GRCm39)	V691E	probably damaging	Het
Scfd2	G	T	5: 74,691,596 (GRCm39)	H229N	possibly damaging	Het
Sspo	T	C	6: 48,436,349 (GRCm39)	V1233A	possibly damaging	Het
Stam	T	A	2: 14,151,201 (GRCm39)	Y519*	probably null	Het
Synj2	A	G	17: 6,069,679 (GRCm39)	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,412,391 (GRCm39)	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,745,948 (GRCm39)		probably benign	Het
Ttc23	G	A	7: 67,312,085 (GRCm39)		probably benign	Het
Vmn1r90	T	C	7: 14,295,229 (GRCm39)	I290V	probably damaging	Het
Xirp1	A	C	9: 119,847,605 (GRCm39)	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,392,423 (GRCm39)	F430L	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
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

2016-08-02