Mutagenetix > Incidental Mutation

Incidental Mutation 'R1451:Cacna2d4'

161660

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

039506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1451 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119213487-119329368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119213785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 68 (T68I)

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: T68I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000044660
Gene: ENSMUSG00000041460
AA Change: T68I

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: T68I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140197
Gene: ENSMUSG00000041460
AA Change: T68I

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: ENSMUST00000190015

Meta Mutation Damage Score

0.1117

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

96% (55/57)

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
1700024G13Rik	T	C	14: 32,098,588 (GRCm39)	E83G	possibly damaging	Het
Abca9	A	G	11: 110,018,273 (GRCm39)	S1116P	probably damaging	Het
Abcc12	T	A	8: 87,284,322 (GRCm39)	T296S	probably damaging	Het
Adarb2	A	G	13: 8,389,657 (GRCm39)		probably benign	Het
Arhgef12	C	T	9: 42,903,874 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,807,049 (GRCm39)		probably null	Het
C1ra	A	T	6: 124,498,600 (GRCm39)	Q431L	probably benign	Het
C1s2	A	T	6: 124,602,453 (GRCm39)	I580N	probably benign	Het
Car8	A	T	4: 8,189,327 (GRCm39)	H162Q	probably benign	Het
Ccdc106	A	G	7: 5,062,527 (GRCm39)	R116G	probably damaging	Het
Ccdc136	T	A	6: 29,419,376 (GRCm39)	N965K	probably benign	Het
Cd200r3	A	G	16: 44,771,910 (GRCm39)	E58G	possibly damaging	Het
Cnksr3	T	A	10: 7,076,830 (GRCm39)	S121C	probably null	Het
Cog6	T	C	3: 52,916,534 (GRCm39)	M212V	possibly damaging	Het
Ebna1bp2	C	A	4: 118,478,269 (GRCm39)		probably null	Het
Epha1	C	A	6: 42,338,385 (GRCm39)	M730I	probably damaging	Het
Fcgbpl1	T	C	7: 27,836,582 (GRCm39)	F167S	probably damaging	Het
Fscn2	A	T	11: 120,252,848 (GRCm39)	E105V	probably damaging	Het
Gars1	T	C	6: 55,030,108 (GRCm39)		probably benign	Het
Itgb4	G	T	11: 115,881,710 (GRCm39)	G753V	probably damaging	Het
Kif23	C	T	9: 61,832,084 (GRCm39)	V634M	probably damaging	Het
Krt8	T	C	15: 101,907,264 (GRCm39)	Y273C	possibly damaging	Het
Lgmn	A	G	12: 102,372,151 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,845,926 (GRCm39)	I785T	possibly damaging	Het
Lrriq1	A	G	10: 103,038,376 (GRCm39)		probably benign	Het
Lta4h	A	G	10: 93,316,590 (GRCm39)	D491G	probably damaging	Het
Megf10	A	T	18: 57,385,931 (GRCm39)	S315C	probably damaging	Het
Mphosph8	C	T	14: 56,905,878 (GRCm39)	R24C	possibly damaging	Het
Neurog2	A	G	3: 127,427,490 (GRCm39)	D38G	possibly damaging	Het
Or1j11	G	T	2: 36,311,877 (GRCm39)	A156S	probably benign	Het
Or2w2	A	T	13: 21,758,457 (GRCm39)	Y56*	probably null	Het
Or2z2	C	T	11: 58,346,358 (GRCm39)	R139H	probably benign	Het
Or6b3	T	A	1: 92,439,517 (GRCm39)	I78F	possibly damaging	Het
Or8b50	A	T	9: 38,518,234 (GRCm39)	I158F	probably benign	Het
Or8g50	T	A	9: 39,648,612 (GRCm39)	V167D	probably benign	Het
Pcdhb17	A	T	18: 37,619,989 (GRCm39)	D593V	probably damaging	Het
Pde2a	G	T	7: 101,071,198 (GRCm39)	E23*	probably null	Het
Prex2	G	A	1: 11,226,483 (GRCm39)	V749I	probably benign	Het
Ptchd4	A	G	17: 42,813,809 (GRCm39)	Y570C	probably damaging	Het
Robo3	C	T	9: 37,329,007 (GRCm39)	R1237K	probably benign	Het
Slc6a1	C	A	6: 114,284,756 (GRCm39)	Y87*	probably null	Het
Snx13	G	A	12: 35,128,983 (GRCm39)	A34T	probably benign	Het
Sppl3	T	C	5: 115,226,424 (GRCm39)	L193P	probably damaging	Het
Tia1	A	T	6: 86,407,321 (GRCm39)	Y277F	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trappc2l	T	C	8: 123,342,134 (GRCm39)	F127L	probably damaging	Het
Ushbp1	G	T	8: 71,838,663 (GRCm39)	Q588K	possibly damaging	Het
Usp43	T	A	11: 67,747,007 (GRCm39)	H895L	probably benign	Het
Vmn1r179	T	A	7: 23,628,275 (GRCm39)	C155*	probably null	Het
Vmn2r8	T	A	5: 108,945,933 (GRCm39)	D558V	probably damaging	Het
Vps13a	T	C	19: 16,688,228 (GRCm39)	T860A	probably benign	Het
Vps50	A	G	6: 3,565,628 (GRCm39)	N522S	possibly damaging	Het
Zfp180	T	C	7: 23,804,643 (GRCm39)	F354S	probably benign	Het
Zgpat	A	G	2: 181,021,984 (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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCAGCAAGTTATCTCCCAGCAG -3'
(R):5'- GTGTGACACAAAGGTCATTTCCAGC -3'

Sequencing Primer
(F):5'- TGTCCTCTAGCCACAACCAAGA -3'
(R):5'- GGTCTTCAGGGTAGGATCAAAG -3'

Posted On

2014-03-14