Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01974:Cacna2d2'

181694

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cacna2d2

Ensembl Gene

ENSMUSG00000010066

Gene Name

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

Synonyms

a2d2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

IGL01974

Quality Score

Status

Chromosome

Chromosomal Location

107276948-107406545 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 107394621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 598 (S598R)

Ref Sequence

ENSEMBL: ENSMUSP00000130451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010210] [ENSMUST00000085092] [ENSMUST00000164988] [ENSMUST00000166799] [ENSMUST00000168532] [ENSMUST00000170737]

AlphaFold

Q6PHS9

Predicted Effect

probably benign
Transcript: ENSMUST00000010210
AA Change: S598R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000010210
Gene: ENSMUSG00000010066
AA Change: S598R

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
Pfam:VWA_N	144	268	2e-48	PFAM
VWA	292	467	4.93e-22	SMART
Pfam:Cache_1	488	577	9.9e-32	PFAM
Pfam:VGCC_alpha2	583	673	1.8e-33	PFAM
low complexity region	968	977	N/A	INTRINSIC
low complexity region	1114	1137	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085092
AA Change: S598R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082173
Gene: ENSMUSG00000010066
AA Change: S598R

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
Pfam:VWA_N	144	268	2e-48	PFAM
VWA	292	467	4.93e-22	SMART
Pfam:Cache_1	488	577	1e-31	PFAM
Pfam:VGCC_alpha2	583	676	5.8e-35	PFAM
low complexity region	974	983	N/A	INTRINSIC
low complexity region	1120	1143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164988
AA Change: S598R

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

SMART Domains

Protein: ENSMUSP00000130451
Gene: ENSMUSG00000010066
AA Change: S598R

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
Pfam:VWA_N	144	268	6.7e-49	PFAM
VWA	292	467	4.93e-22	SMART
Pfam:Cache_1	488	577	2.4e-31	PFAM
Pfam:VGCC_alpha2	583	675	2.5e-34	PFAM
low complexity region	974	983	N/A	INTRINSIC
low complexity region	1123	1146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166799
AA Change: S598R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126029
Gene: ENSMUSG00000010066
AA Change: S598R

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
Pfam:VWA_N	144	268	8.5e-44	PFAM
VWA	292	467	4.93e-22	SMART
Pfam:Cache_1	488	576	1.3e-32	PFAM
Pfam:VGCC_alpha2	583	675	1.4e-47	PFAM
low complexity region	975	984	N/A	INTRINSIC
low complexity region	1123	1146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168532
AA Change: S598R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132512
Gene: ENSMUSG00000010066
AA Change: S598R

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
Pfam:VWA_N	144	268	2.1e-48	PFAM
VWA	292	467	4.93e-22	SMART
Pfam:Cache_1	488	577	1e-31	PFAM
Pfam:VGCC_alpha2	583	676	5.8e-35	PFAM
low complexity region	974	983	N/A	INTRINSIC
low complexity region	1122	1145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169354

Predicted Effect

probably benign
Transcript: ENSMUST00000170737
AA Change: S598R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125943
Gene: ENSMUSG00000010066
AA Change: S598R

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
Pfam:VWA_N	144	268	2e-48	PFAM
VWA	292	467	4.93e-22	SMART
Pfam:Cache_1	488	577	1e-31	PFAM
Pfam:VGCC_alpha2	583	673	1.9e-33	PFAM
low complexity region	968	977	N/A	INTRINSIC
low complexity region	1116	1139	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171809

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for different mutant alleles show variable movement abnormalities including waddling, reeling or very slow gait, ataxia, and mild spike-wave seizures. While gross CNS abnormalities and demyelination are present in some mutant lines, they are not observed in others. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,762 (GRCm39)	D1401G	possibly damaging	Het
Adamts2	G	A	11: 50,667,001 (GRCm39)	G433S	probably damaging	Het
Cdkl3	A	G	11: 51,902,064 (GRCm39)	Q91R	probably damaging	Het
Celf2	T	C	2: 6,608,842 (GRCm39)	Y313C	probably damaging	Het
Clint1	C	A	11: 45,799,862 (GRCm39)	N558K	probably benign	Het
Dcbld1	A	G	10: 52,180,777 (GRCm39)	H147R	probably benign	Het
Ednrb	A	C	14: 104,058,254 (GRCm39)	Y350D	probably damaging	Het
Elp2	C	T	18: 24,759,260 (GRCm39)	P539L	probably damaging	Het
Fam217b	G	A	2: 178,063,020 (GRCm39)	R328Q	probably damaging	Het
Gm9991	G	T	1: 90,603,197 (GRCm39)		noncoding transcript	Het
Herc4	T	G	10: 63,135,020 (GRCm39)		probably null	Het
Hus1	T	C	11: 8,950,088 (GRCm39)	N211S	possibly damaging	Het
Immt	A	G	6: 71,849,842 (GRCm39)	D454G	probably damaging	Het
Itga4	G	A	2: 79,103,471 (GRCm39)		probably benign	Het
Kank1	A	T	19: 25,387,596 (GRCm39)	N423I	possibly damaging	Het
Kynu	T	A	2: 43,571,352 (GRCm39)		probably benign	Het
Mycbp2	A	C	14: 103,380,647 (GRCm39)	S3670A	possibly damaging	Het
Ndufv3	T	C	17: 31,740,583 (GRCm39)	V30A	probably benign	Het
Or8k17	G	T	2: 86,066,304 (GRCm39)	L292I	probably benign	Het
Per2	C	T	1: 91,351,440 (GRCm39)	R1022Q	probably benign	Het
Rad23a	T	C	8: 85,565,568 (GRCm39)	E30G	probably damaging	Het
Ropn1l	T	A	15: 31,449,255 (GRCm39)	Y91F	probably benign	Het
Sertad4	C	A	1: 192,529,274 (GRCm39)	E181*	probably null	Het
Styxl2	A	T	1: 165,928,105 (GRCm39)	C502*	probably null	Het
Tnfrsf1b	G	A	4: 144,942,421 (GRCm39)	P454L	probably damaging	Het
Ttbk2	G	A	2: 120,616,564 (GRCm39)	R110W	probably damaging	Het
Usp17le	G	T	7: 104,417,642 (GRCm39)	S500Y	probably benign	Het

Other mutations in Cacna2d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Cacna2d2	APN	9	107,392,072 (GRCm39)	missense	probably damaging	1.00
IGL00425:Cacna2d2	APN	9	107,404,550 (GRCm39)	missense	probably damaging	1.00
IGL01294:Cacna2d2	APN	9	107,391,280 (GRCm39)	missense	probably damaging	1.00
IGL01969:Cacna2d2	APN	9	107,386,415 (GRCm39)	missense	probably benign
IGL02001:Cacna2d2	APN	9	107,399,315 (GRCm39)	missense	probably benign
IGL02125:Cacna2d2	APN	9	107,391,103 (GRCm39)	nonsense	probably null
IGL02143:Cacna2d2	APN	9	107,395,474 (GRCm39)	splice site	probably null
IGL02150:Cacna2d2	APN	9	107,404,515 (GRCm39)	splice site	probably benign
IGL02213:Cacna2d2	APN	9	107,391,247 (GRCm39)	missense	probably damaging	1.00
IGL02220:Cacna2d2	APN	9	107,392,078 (GRCm39)	missense	probably damaging	1.00
IGL02238:Cacna2d2	APN	9	107,390,757 (GRCm39)	missense	probably damaging	0.99
IGL02466:Cacna2d2	APN	9	107,342,753 (GRCm39)	missense	probably damaging	1.00
IGL02569:Cacna2d2	APN	9	107,391,245 (GRCm39)	missense	probably damaging	0.99
IGL02571:Cacna2d2	APN	9	107,402,845 (GRCm39)	missense	possibly damaging	0.93
IGL02825:Cacna2d2	APN	9	107,401,659 (GRCm39)	missense	probably damaging	1.00
IGL03000:Cacna2d2	APN	9	107,401,397 (GRCm39)	splice site	probably null
IGL03064:Cacna2d2	APN	9	107,386,474 (GRCm39)	missense	probably damaging	1.00
Blow	UTSW	9	107,390,805 (GRCm39)	missense	probably null	0.90
dilemma	UTSW	9	107,392,063 (GRCm39)	missense	probably damaging	1.00
hera	UTSW	9	107,390,479 (GRCm39)	missense	probably damaging	1.00
Ionian	UTSW	9	107,402,575 (GRCm39)	missense	probably benign	0.05
Solomonic	UTSW	9	107,401,861 (GRCm39)	missense	possibly damaging	0.94
PIT4131001:Cacna2d2	UTSW	9	107,401,867 (GRCm39)	missense	probably damaging	1.00
R0233:Cacna2d2	UTSW	9	107,391,869 (GRCm39)	missense	probably damaging	0.96
R0233:Cacna2d2	UTSW	9	107,391,869 (GRCm39)	missense	probably damaging	0.96
R0387:Cacna2d2	UTSW	9	107,391,080 (GRCm39)	missense	probably damaging	1.00
R0410:Cacna2d2	UTSW	9	107,401,819 (GRCm39)	missense	probably damaging	1.00
R0538:Cacna2d2	UTSW	9	107,401,582 (GRCm39)	splice site	probably benign
R0545:Cacna2d2	UTSW	9	107,402,422 (GRCm39)	missense	probably damaging	1.00
R0729:Cacna2d2	UTSW	9	107,394,456 (GRCm39)	missense	probably benign	0.06
R1024:Cacna2d2	UTSW	9	107,404,249 (GRCm39)	critical splice donor site	probably null
R1538:Cacna2d2	UTSW	9	107,394,615 (GRCm39)	missense	probably damaging	1.00
R1750:Cacna2d2	UTSW	9	107,401,843 (GRCm39)	missense	probably damaging	1.00
R1774:Cacna2d2	UTSW	9	107,403,350 (GRCm39)	missense	probably benign	0.19
R1800:Cacna2d2	UTSW	9	107,404,632 (GRCm39)	missense	possibly damaging	0.46
R1873:Cacna2d2	UTSW	9	107,391,071 (GRCm39)	missense	probably damaging	0.98
R1935:Cacna2d2	UTSW	9	107,386,455 (GRCm39)	missense	probably damaging	1.00
R1936:Cacna2d2	UTSW	9	107,386,455 (GRCm39)	missense	probably damaging	1.00
R1971:Cacna2d2	UTSW	9	107,389,205 (GRCm39)	missense	probably damaging	0.98
R2095:Cacna2d2	UTSW	9	107,404,364 (GRCm39)	missense	probably benign	0.05
R2135:Cacna2d2	UTSW	9	107,403,712 (GRCm39)	missense	possibly damaging	0.74
R2197:Cacna2d2	UTSW	9	107,404,602 (GRCm39)	missense	probably damaging	0.97
R2266:Cacna2d2	UTSW	9	107,390,479 (GRCm39)	missense	probably damaging	1.00
R2483:Cacna2d2	UTSW	9	107,389,221 (GRCm39)	missense	probably damaging	1.00
R4021:Cacna2d2	UTSW	9	107,391,257 (GRCm39)	missense	probably damaging	1.00
R4392:Cacna2d2	UTSW	9	107,277,479 (GRCm39)	missense	possibly damaging	0.47
R4629:Cacna2d2	UTSW	9	107,404,521 (GRCm39)	missense	probably damaging	1.00
R5053:Cacna2d2	UTSW	9	107,392,063 (GRCm39)	missense	probably damaging	1.00
R5327:Cacna2d2	UTSW	9	107,390,805 (GRCm39)	missense	probably null	0.90
R5347:Cacna2d2	UTSW	9	107,391,313 (GRCm39)	missense	probably benign
R5719:Cacna2d2	UTSW	9	107,401,851 (GRCm39)	missense	probably benign	0.36
R5737:Cacna2d2	UTSW	9	107,403,946 (GRCm39)	missense	possibly damaging	0.70
R5739:Cacna2d2	UTSW	9	107,389,528 (GRCm39)	missense	probably benign	0.37
R6037:Cacna2d2	UTSW	9	107,390,738 (GRCm39)	missense	probably damaging	1.00
R6037:Cacna2d2	UTSW	9	107,390,738 (GRCm39)	missense	probably damaging	1.00
R6084:Cacna2d2	UTSW	9	107,374,720 (GRCm39)	critical splice donor site	probably null
R6170:Cacna2d2	UTSW	9	107,404,533 (GRCm39)	missense	probably damaging	1.00
R6254:Cacna2d2	UTSW	9	107,386,415 (GRCm39)	missense	probably benign
R6427:Cacna2d2	UTSW	9	107,392,641 (GRCm39)	missense	possibly damaging	0.67
R7652:Cacna2d2	UTSW	9	107,401,397 (GRCm39)	splice site	probably null
R7850:Cacna2d2	UTSW	9	107,402,575 (GRCm39)	missense	probably benign	0.05
R7936:Cacna2d2	UTSW	9	107,401,326 (GRCm39)	missense	probably damaging	1.00
R7978:Cacna2d2	UTSW	9	107,395,456 (GRCm39)	missense	probably benign	0.14
R8039:Cacna2d2	UTSW	9	107,404,632 (GRCm39)	missense	possibly damaging	0.92
R8165:Cacna2d2	UTSW	9	107,402,653 (GRCm39)	splice site	probably null
R8274:Cacna2d2	UTSW	9	107,401,861 (GRCm39)	missense	possibly damaging	0.94
R8286:Cacna2d2	UTSW	9	107,392,063 (GRCm39)	missense	probably damaging	1.00
R8354:Cacna2d2	UTSW	9	107,401,334 (GRCm39)	missense	possibly damaging	0.95
R8464:Cacna2d2	UTSW	9	107,389,206 (GRCm39)	missense	probably damaging	0.99
R8479:Cacna2d2	UTSW	9	107,403,596 (GRCm39)	critical splice donor site	probably null
R8765:Cacna2d2	UTSW	9	107,394,358 (GRCm39)	missense	probably damaging	1.00
R8848:Cacna2d2	UTSW	9	107,391,855 (GRCm39)	missense	possibly damaging	0.75
R9037:Cacna2d2	UTSW	9	107,386,395 (GRCm39)	missense	probably benign	0.08
R9225:Cacna2d2	UTSW	9	107,403,403 (GRCm39)	missense	probably benign	0.10
R9295:Cacna2d2	UTSW	9	107,386,419 (GRCm39)	missense	probably benign	0.02
R9372:Cacna2d2	UTSW	9	107,394,802 (GRCm39)	missense	probably benign	0.00
R9414:Cacna2d2	UTSW	9	107,392,395 (GRCm39)	missense	probably damaging	1.00
R9417:Cacna2d2	UTSW	9	107,392,689 (GRCm39)	nonsense	probably null
R9435:Cacna2d2	UTSW	9	107,396,384 (GRCm39)	missense	probably benign	0.01
R9584:Cacna2d2	UTSW	9	107,277,404 (GRCm39)	missense	probably damaging	0.97
R9642:Cacna2d2	UTSW	9	107,392,627 (GRCm39)	missense	possibly damaging	0.94
R9784:Cacna2d2	UTSW	9	107,404,346 (GRCm39)	missense	probably benign	0.00
Z1176:Cacna2d2	UTSW	9	107,403,301 (GRCm39)	missense	probably benign	0.14
Z1176:Cacna2d2	UTSW	9	107,394,492 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07