Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Cacna1c'

574165

Institutional Source

Beutler Lab

Gene Symbol

Cacna1c

Ensembl Gene

ENSMUSG00000051331

Gene Name

calcium channel, voltage-dependent, L type, alpha 1C subunit

Synonyms

Cav1.2, D930026N18Rik, Cchl1a1, (alpha)1 subunit, L-type Cav1.2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118587240-119196418 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 119052708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075591] [ENSMUST00000078320] [ENSMUST00000112790] [ENSMUST00000112793] [ENSMUST00000112793] [ENSMUST00000185345] [ENSMUST00000186889] [ENSMUST00000187317] [ENSMUST00000187386] [ENSMUST00000187474] [ENSMUST00000187940] [ENSMUST00000188078] [ENSMUST00000188106] [ENSMUST00000188522] [ENSMUST00000188865] [ENSMUST00000189389] [ENSMUST00000189520] [ENSMUST00000190285]

AlphaFold

Q01815

Predicted Effect

probably null
Transcript: ENSMUST00000075591

SMART Domains

Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	2	245	3.5e-60	PFAM
PDB:4DEY\|B	246	369	2e-57	PDB
low complexity region	370	384	N/A	INTRINSIC
transmembrane domain	390	409	N/A	INTRINSIC
Pfam:Ion_trans	424	618	1.3e-46	PFAM
low complexity region	633	643	N/A	INTRINSIC
low complexity region	663	675	N/A	INTRINSIC
low complexity region	711	718	N/A	INTRINSIC
transmembrane domain	762	784	N/A	INTRINSIC
Pfam:Ion_trans	801	1031	2.6e-51	PFAM
Pfam:PKD_channel	1095	1348	2.7e-10	PFAM
Pfam:Ion_trans	1119	1341	3.9e-70	PFAM
Blast:EFh	1362	1390	4e-9	BLAST
Ca_chan_IQ	1476	1510	3.28e-15	SMART
low complexity region	1630	1640	N/A	INTRINSIC
low complexity region	1810	1824	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000078320

SMART Domains

Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	2	245	1.4e-59	PFAM
PDB:4DEY\|B	246	344	4e-63	PDB
low complexity region	345	359	N/A	INTRINSIC
transmembrane domain	365	384	N/A	INTRINSIC
Pfam:Ion_trans	399	593	5.2e-46	PFAM
low complexity region	608	618	N/A	INTRINSIC
low complexity region	638	650	N/A	INTRINSIC
low complexity region	686	693	N/A	INTRINSIC
transmembrane domain	737	759	N/A	INTRINSIC
Pfam:Ion_trans	776	1006	2.5e-51	PFAM
Pfam:PKD_channel	1070	1323	1.1e-9	PFAM
Pfam:Ion_trans	1094	1316	1.5e-69	PFAM
Blast:EFh	1337	1365	4e-9	BLAST
Ca_chan_IQ	1451	1485	3.28e-15	SMART
low complexity region	1605	1615	N/A	INTRINSIC
low complexity region	1785	1799	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112790

SMART Domains

Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	2	245	5.7e-60	PFAM
PDB:4DEY\|B	246	344	4e-63	PDB
low complexity region	345	359	N/A	INTRINSIC
transmembrane domain	365	384	N/A	INTRINSIC
Pfam:Ion_trans	399	593	2.1e-46	PFAM
low complexity region	608	618	N/A	INTRINSIC
low complexity region	638	650	N/A	INTRINSIC
low complexity region	686	693	N/A	INTRINSIC
transmembrane domain	737	759	N/A	INTRINSIC
Pfam:Ion_trans	776	1006	1e-51	PFAM
Pfam:Ion_trans	1094	1305	1.1e-66	PFAM
Pfam:PKD_channel	1140	1312	1.3e-8	PFAM
Blast:EFh	1326	1354	4e-9	BLAST
Ca_chan_IQ	1440	1474	3.28e-15	SMART
low complexity region	1594	1604	N/A	INTRINSIC
low complexity region	1774	1788	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112793

SMART Domains

Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	1	257	1.8e-64	PFAM
Pfam:PKD_channel	379	624	5.8e-8	PFAM
Pfam:Ion_trans	389	630	5e-56	PFAM
low complexity region	633	643	N/A	INTRINSIC
low complexity region	663	675	N/A	INTRINSIC
low complexity region	711	718	N/A	INTRINSIC
Pfam:Ion_trans	765	1043	8.7e-64	PFAM
Pfam:Ion_trans	1084	1411	6.4e-69	PFAM
Pfam:PKD_channel	1234	1406	9.2e-9	PFAM
Pfam:GPHH	1413	1482	7.7e-40	PFAM
Ca_chan_IQ	1534	1568	3.28e-15	SMART
Pfam:CAC1F_C	1577	2060	3.5e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112793

SMART Domains

Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	1	257	1.8e-64	PFAM
Pfam:PKD_channel	379	624	5.8e-8	PFAM
Pfam:Ion_trans	389	630	5e-56	PFAM
low complexity region	633	643	N/A	INTRINSIC
low complexity region	663	675	N/A	INTRINSIC
low complexity region	711	718	N/A	INTRINSIC
Pfam:Ion_trans	765	1043	8.7e-64	PFAM
Pfam:Ion_trans	1084	1411	6.4e-69	PFAM
Pfam:PKD_channel	1234	1406	9.2e-9	PFAM
Pfam:GPHH	1413	1482	7.7e-40	PFAM
Ca_chan_IQ	1534	1568	3.28e-15	SMART
Pfam:CAC1F_C	1577	2060	3.5e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000185345

SMART Domains

Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
Pfam:Ion_trans	161	404	8.6e-60	PFAM
PDB:4DEY\|B	405	503	3e-63	PDB
low complexity region	504	518	N/A	INTRINSIC
transmembrane domain	524	543	N/A	INTRINSIC
Pfam:Ion_trans	558	752	1.4e-44	PFAM
low complexity region	767	777	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	845	852	N/A	INTRINSIC
transmembrane domain	896	918	N/A	INTRINSIC
transmembrane domain	931	953	N/A	INTRINSIC
Pfam:Ion_trans	955	1185	2.2e-50	PFAM
Pfam:PKD_channel	1250	1502	6.9e-9	PFAM
Pfam:Ion_trans	1273	1495	6.4e-65	PFAM
Blast:EFh	1516	1544	5e-9	BLAST
Ca_chan_IQ	1630	1664	2.5e-19	SMART
low complexity region	1784	1794	N/A	INTRINSIC
low complexity region	1964	1978	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000186889

SMART Domains

Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	56	69	N/A	INTRINSIC
Pfam:Ion_trans	191	434	1.5e-59	PFAM
PDB:4DEY\|B	435	533	5e-63	PDB
low complexity region	534	548	N/A	INTRINSIC
Pfam:Ion_trans	588	782	5.6e-46	PFAM
low complexity region	797	807	N/A	INTRINSIC
low complexity region	827	839	N/A	INTRINSIC
low complexity region	875	882	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
Pfam:Ion_trans	965	1195	2.7e-51	PFAM
Pfam:PKD_channel	1261	1512	1.3e-9	PFAM
Pfam:Ion_trans	1283	1505	1.7e-69	PFAM
Blast:EFh	1526	1554	5e-9	BLAST
Ca_chan_IQ	1640	1674	3.28e-15	SMART
low complexity region	1794	1804	N/A	INTRINSIC
low complexity region	1974	1988	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000187317

SMART Domains

Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
Pfam:Ion_trans	161	404	8.8e-60	PFAM
PDB:4DEY\|B	405	503	2e-63	PDB
low complexity region	504	518	N/A	INTRINSIC
transmembrane domain	524	543	N/A	INTRINSIC
Pfam:Ion_trans	558	752	1.5e-44	PFAM
low complexity region	767	777	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	845	852	N/A	INTRINSIC
transmembrane domain	896	918	N/A	INTRINSIC
transmembrane domain	931	953	N/A	INTRINSIC
Pfam:Ion_trans	955	1185	2.3e-50	PFAM
Pfam:PKD_channel	1249	1530	8.3e-8	PFAM
Pfam:Ion_trans	1273	1326	5e-16	PFAM
Pfam:Ion_trans	1323	1523	2.5e-56	PFAM
Blast:EFh	1544	1572	5e-9	BLAST
Ca_chan_IQ	1658	1692	2.5e-19	SMART
low complexity region	1812	1822	N/A	INTRINSIC
low complexity region	1992	2006	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000187386

SMART Domains

Protein: ENSMUSP00000140341
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
transmembrane domain	96	118	N/A	INTRINSIC
Pfam:Ion_trans	132	375	8.5e-60	PFAM
PDB:4DEY\|B	376	499	1e-57	PDB
low complexity region	500	514	N/A	INTRINSIC
transmembrane domain	520	539	N/A	INTRINSIC
Pfam:Ion_trans	554	748	1.4e-44	PFAM
low complexity region	763	773	N/A	INTRINSIC
low complexity region	793	805	N/A	INTRINSIC
low complexity region	841	848	N/A	INTRINSIC
transmembrane domain	892	914	N/A	INTRINSIC
Pfam:Ion_trans	931	1161	2.9e-49	PFAM
Pfam:PKD_channel	1226	1478	6.8e-9	PFAM
Pfam:Ion_trans	1249	1471	6.3e-65	PFAM
Blast:EFh	1492	1520	4e-9	BLAST
Ca_chan_IQ	1606	1640	2.5e-19	SMART
low complexity region	1760	1770	N/A	INTRINSIC
low complexity region	1940	1954	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000187474

SMART Domains

Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	56	69	N/A	INTRINSIC
Pfam:Ion_trans	191	434	7.6e-60	PFAM
PDB:4DEY\|B	435	533	4e-63	PDB
low complexity region	534	548	N/A	INTRINSIC
Pfam:Ion_trans	588	782	2.8e-46	PFAM
low complexity region	797	807	N/A	INTRINSIC
low complexity region	827	839	N/A	INTRINSIC
low complexity region	875	882	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
Pfam:Ion_trans	965	1195	5.6e-51	PFAM
Pfam:PKD_channel	1261	1512	7.3e-10	PFAM
Pfam:Ion_trans	1283	1505	8.3e-70	PFAM
Blast:EFh	1526	1554	5e-9	BLAST
Ca_chan_IQ	1640	1674	3.28e-15	SMART
low complexity region	1794	1804	N/A	INTRINSIC
low complexity region	1974	1988	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000187940

SMART Domains

Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	56	69	N/A	INTRINSIC
Pfam:Ion_trans	191	434	7.6e-60	PFAM
PDB:4DEY\|B	435	533	4e-63	PDB
low complexity region	534	548	N/A	INTRINSIC
Pfam:Ion_trans	588	782	2.8e-46	PFAM
low complexity region	797	807	N/A	INTRINSIC
low complexity region	827	839	N/A	INTRINSIC
low complexity region	875	882	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
Pfam:Ion_trans	965	1195	5.6e-51	PFAM
Pfam:PKD_channel	1260	1512	5.8e-11	PFAM
Pfam:Ion_trans	1283	1505	1.2e-66	PFAM
Blast:EFh	1526	1554	5e-9	BLAST
Ca_chan_IQ	1640	1674	3.28e-15	SMART
low complexity region	1794	1804	N/A	INTRINSIC
low complexity region	1974	1988	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000188078

SMART Domains

Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
Pfam:Ion_trans	161	404	8.5e-60	PFAM
PDB:4DEY\|B	405	503	5e-63	PDB
low complexity region	504	518	N/A	INTRINSIC
transmembrane domain	524	543	N/A	INTRINSIC
Pfam:Ion_trans	558	752	1.4e-44	PFAM
low complexity region	767	777	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	845	852	N/A	INTRINSIC
transmembrane domain	896	918	N/A	INTRINSIC
Pfam:Ion_trans	935	1165	6.9e-50	PFAM
Pfam:PKD_channel	1230	1482	9e-8	PFAM
Pfam:Ion_trans	1253	1475	4.3e-68	PFAM
Blast:EFh	1496	1524	4e-9	BLAST
Ca_chan_IQ	1610	1644	2.5e-19	SMART
low complexity region	1764	1774	N/A	INTRINSIC
low complexity region	1944	1958	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000188106

SMART Domains

Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
Pfam:Ion_trans	161	404	8.5e-62	PFAM
PDB:4DEY\|B	405	528	2e-57	PDB
low complexity region	529	543	N/A	INTRINSIC
Pfam:Ion_trans	583	777	1.4e-46	PFAM
low complexity region	792	802	N/A	INTRINSIC
low complexity region	822	834	N/A	INTRINSIC
low complexity region	870	877	N/A	INTRINSIC
transmembrane domain	921	943	N/A	INTRINSIC
Pfam:Ion_trans	960	1190	2.9e-51	PFAM
Pfam:Ion_trans	1278	1489	5.2e-70	PFAM
Pfam:PKD_channel	1325	1496	4.8e-9	PFAM
Blast:EFh	1510	1538	5e-9	BLAST
Ca_chan_IQ	1624	1658	3.28e-15	SMART
low complexity region	1778	1788	N/A	INTRINSIC
low complexity region	1958	1972	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000188522

SMART Domains

Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
Pfam:Ion_trans	161	404	8.7e-60	PFAM
PDB:4DEY\|B	405	528	2e-57	PDB
low complexity region	529	543	N/A	INTRINSIC
transmembrane domain	549	568	N/A	INTRINSIC
Pfam:Ion_trans	583	777	1.4e-44	PFAM
low complexity region	792	802	N/A	INTRINSIC
low complexity region	822	834	N/A	INTRINSIC
low complexity region	870	877	N/A	INTRINSIC
transmembrane domain	921	943	N/A	INTRINSIC
Pfam:Ion_trans	960	1190	2.9e-49	PFAM
Pfam:PKD_channel	1255	1507	7e-9	PFAM
Pfam:Ion_trans	1278	1500	6.4e-65	PFAM
Blast:EFh	1521	1549	5e-9	BLAST
Ca_chan_IQ	1635	1669	2.5e-19	SMART
low complexity region	1789	1799	N/A	INTRINSIC
low complexity region	1969	1983	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000188865

SMART Domains

Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
Pfam:Ion_trans	161	404	8.5e-60	PFAM
PDB:4DEY\|B	405	503	5e-63	PDB
low complexity region	504	518	N/A	INTRINSIC
transmembrane domain	524	543	N/A	INTRINSIC
Pfam:Ion_trans	558	752	1.4e-44	PFAM
low complexity region	767	777	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	845	852	N/A	INTRINSIC
transmembrane domain	896	918	N/A	INTRINSIC
Pfam:Ion_trans	935	1165	6.9e-50	PFAM
Pfam:PKD_channel	1230	1482	6.8e-9	PFAM
Pfam:Ion_trans	1253	1475	6.3e-65	PFAM
Blast:EFh	1496	1524	4e-9	BLAST
Ca_chan_IQ	1610	1644	2.5e-19	SMART
low complexity region	1764	1774	N/A	INTRINSIC
low complexity region	1944	1958	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000189389

SMART Domains

Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
Pfam:Ion_trans	161	404	8.7e-60	PFAM
PDB:4DEY\|B	405	503	4e-63	PDB
low complexity region	504	518	N/A	INTRINSIC
transmembrane domain	524	543	N/A	INTRINSIC
Pfam:Ion_trans	558	752	1.5e-44	PFAM
low complexity region	767	777	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	845	852	N/A	INTRINSIC
transmembrane domain	896	918	N/A	INTRINSIC
Pfam:Ion_trans	935	1165	3e-49	PFAM
Pfam:PKD_channel	1229	1510	8.2e-8	PFAM
Pfam:Ion_trans	1253	1306	5e-16	PFAM
Pfam:Ion_trans	1303	1503	2.5e-56	PFAM
Blast:EFh	1524	1552	5e-9	BLAST
Ca_chan_IQ	1638	1672	2.5e-19	SMART
low complexity region	1792	1802	N/A	INTRINSIC
low complexity region	1972	1986	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000189520

SMART Domains

Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
transmembrane domain	125	147	N/A	INTRINSIC
Pfam:Ion_trans	161	404	8.6e-60	PFAM
PDB:4DEY\|B	405	503	4e-63	PDB
low complexity region	504	518	N/A	INTRINSIC
transmembrane domain	524	543	N/A	INTRINSIC
Pfam:Ion_trans	558	752	1.4e-44	PFAM
low complexity region	767	777	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC
low complexity region	845	852	N/A	INTRINSIC
transmembrane domain	896	918	N/A	INTRINSIC
Pfam:Ion_trans	935	1165	7e-50	PFAM
Pfam:PKD_channel	1229	1499	2.2e-9	PFAM
Pfam:Ion_trans	1253	1305	6.6e-16	PFAM
Pfam:Ion_trans	1301	1492	1.1e-56	PFAM
Blast:EFh	1513	1541	5e-9	BLAST
Ca_chan_IQ	1627	1661	2.5e-19	SMART
low complexity region	1781	1791	N/A	INTRINSIC
low complexity region	1961	1975	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000190285

SMART Domains

Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	56	69	N/A	INTRINSIC
transmembrane domain	155	177	N/A	INTRINSIC
Pfam:Ion_trans	191	434	4e-58	PFAM
PDB:4DEY\|B	435	558	2e-57	PDB
low complexity region	559	573	N/A	INTRINSIC
transmembrane domain	579	598	N/A	INTRINSIC
Pfam:Ion_trans	613	807	1.5e-44	PFAM
low complexity region	822	832	N/A	INTRINSIC
low complexity region	852	864	N/A	INTRINSIC
low complexity region	900	907	N/A	INTRINSIC
transmembrane domain	951	973	N/A	INTRINSIC
Pfam:Ion_trans	990	1220	3e-49	PFAM
Pfam:PKD_channel	1285	1537	1.4e-7	PFAM
Pfam:Ion_trans	1308	1530	4.4e-68	PFAM
Blast:EFh	1551	1579	5e-9	BLAST
Ca_chan_IQ	1665	1699	2.5e-19	SMART
low complexity region	1819	1829	N/A	INTRINSIC
low complexity region	1999	2013	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for mutations that inactivate the gene do not survive to term. Selective ablation in beta cells resulted in impaired insulin secretion and systemic glucose intolerance. Heterozygotes were hypoactive, showed increased anxiety, and poor motor coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly damaging	Het

Other mutations in Cacna1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Cacna1c	APN	6	118676444	splice site	probably benign
IGL00990:Cacna1c	APN	6	118613295	missense	probably damaging	1.00
IGL01352:Cacna1c	APN	6	118656557	nonsense	probably null
IGL01922:Cacna1c	APN	6	118652668	missense	probably damaging	0.99
IGL02008:Cacna1c	APN	6	118715924	missense	probably null	0.25
IGL02049:Cacna1c	APN	6	118603919	missense	probably benign	0.34
IGL02320:Cacna1c	APN	6	118637792	missense	probably damaging	1.00
IGL02375:Cacna1c	APN	6	118675923	missense	probably damaging	1.00
IGL02454:Cacna1c	APN	6	118602180	missense	probably damaging	1.00
IGL02544:Cacna1c	APN	6	118751479	missense	probably damaging	1.00
IGL02648:Cacna1c	APN	6	118757496	missense	probably damaging	1.00
IGL03191:Cacna1c	APN	6	118741903	missense	probably damaging	1.00
Being	UTSW	6	118652710	missense	probably damaging	1.00
Kundera	UTSW	6	118613339	missense	probably damaging	1.00
unbearable	UTSW	6	118598759	missense	probably benign	0.01
PIT4418001:Cacna1c	UTSW	6	118654423	missense
PIT4469001:Cacna1c	UTSW	6	118595972	missense	unknown
R0041:Cacna1c	UTSW	6	118594027	missense	probably damaging	0.99
R0062:Cacna1c	UTSW	6	118602237	missense	probably damaging	1.00
R0062:Cacna1c	UTSW	6	118602237	missense	probably damaging	1.00
R0083:Cacna1c	UTSW	6	118625523	missense	probably damaging	1.00
R0131:Cacna1c	UTSW	6	118625512	missense	probably damaging	1.00
R0142:Cacna1c	UTSW	6	118603882	missense	probably damaging	1.00
R0193:Cacna1c	UTSW	6	118602402	splice site	probably benign
R0245:Cacna1c	UTSW	6	118604454	missense	probably benign	0.10
R0394:Cacna1c	UTSW	6	118625497	missense	probably damaging	1.00
R0555:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R0617:Cacna1c	UTSW	6	118602213	missense	probably damaging	1.00
R0652:Cacna1c	UTSW	6	118602229	missense	probably damaging	1.00
R0730:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R0812:Cacna1c	UTSW	6	118630263	missense	probably benign	0.07
R0828:Cacna1c	UTSW	6	118757386	missense	probably benign	0.24
R0837:Cacna1c	UTSW	6	118630270	nonsense	probably null
R0881:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R0882:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R0924:Cacna1c	UTSW	6	118675896	missense	probably damaging	1.00
R0930:Cacna1c	UTSW	6	118675896	missense	probably damaging	1.00
R1157:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1158:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1159:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1160:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1237:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1238:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1239:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1337:Cacna1c	UTSW	6	118627455	missense	probably damaging	1.00
R1433:Cacna1c	UTSW	6	118652793	nonsense	probably null
R1463:Cacna1c	UTSW	6	118593994	missense	probably benign	0.27
R1517:Cacna1c	UTSW	6	118598759	missense	probably benign	0.01
R1619:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1704:Cacna1c	UTSW	6	118602146	missense	probably benign	0.01
R1739:Cacna1c	UTSW	6	118610544	missense	probably damaging	0.99
R1804:Cacna1c	UTSW	6	118687046	missense	probably damaging	1.00
R1889:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1891:Cacna1c	UTSW	6	118776519	missense	probably damaging	1.00
R1895:Cacna1c	UTSW	6	118612625	missense	probably damaging	1.00
R1944:Cacna1c	UTSW	6	118606266	missense	probably damaging	1.00
R1961:Cacna1c	UTSW	6	118630322	missense	probably benign	0.05
R2043:Cacna1c	UTSW	6	118596088	missense	probably benign	0.01
R2045:Cacna1c	UTSW	6	118656137	missense	probably damaging	1.00
R2217:Cacna1c	UTSW	6	118670407	missense	probably damaging	1.00
R2237:Cacna1c	UTSW	6	118652743	missense	possibly damaging	0.94
R2509:Cacna1c	UTSW	6	118734982	missense	probably damaging	1.00
R3157:Cacna1c	UTSW	6	118751524	missense	probably benign	0.00
R3739:Cacna1c	UTSW	6	118741952	missense	probably benign
R3831:Cacna1c	UTSW	6	118604463	missense	probably benign	0.06
R4319:Cacna1c	UTSW	6	118654369	missense	probably damaging	1.00
R4477:Cacna1c	UTSW	6	118630239	missense	possibly damaging	0.48
R4571:Cacna1c	UTSW	6	118630380	missense	probably benign
R4671:Cacna1c	UTSW	6	118652058	missense	probably damaging	1.00
R4729:Cacna1c	UTSW	6	118656175	missense	probably damaging	1.00
R4741:Cacna1c	UTSW	6	118613310	missense	probably damaging	1.00
R4798:Cacna1c	UTSW	6	118630302	nonsense	probably null
R4803:Cacna1c	UTSW	6	118751541	missense	probably damaging	0.99
R4821:Cacna1c	UTSW	6	118696425	missense	probably damaging	1.00
R4888:Cacna1c	UTSW	6	118751439	missense	probably damaging	1.00
R4981:Cacna1c	UTSW	6	118751471	missense	probably benign	0.00
R5253:Cacna1c	UTSW	6	118597969	missense	probably benign	0.01
R5297:Cacna1c	UTSW	6	118742361	missense	probably damaging	1.00
R5345:Cacna1c	UTSW	6	118656536	critical splice donor site	probably null
R5364:Cacna1c	UTSW	6	118656543	missense	probably benign	0.35
R5439:Cacna1c	UTSW	6	118654372	missense	probably damaging	1.00
R5472:Cacna1c	UTSW	6	118638446	missense	possibly damaging	0.86
R5516:Cacna1c	UTSW	6	119057218	missense	probably damaging	1.00
R5590:Cacna1c	UTSW	6	118687182	missense	probably damaging	1.00
R5619:Cacna1c	UTSW	6	118742361	missense	probably damaging	1.00
R5684:Cacna1c	UTSW	6	118687044	missense	probably damaging	1.00
R5737:Cacna1c	UTSW	6	118741932	missense	probably damaging	1.00
R5768:Cacna1c	UTSW	6	118697680	missense	probably damaging	1.00
R5933:Cacna1c	UTSW	6	118612580	missense	probably damaging	1.00
R5965:Cacna1c	UTSW	6	118602300	missense	probably damaging	1.00
R6114:Cacna1c	UTSW	6	118596140	missense	probably benign	0.07
R6161:Cacna1c	UTSW	6	119057302	missense	probably damaging	1.00
R6267:Cacna1c	UTSW	6	118598723	missense	possibly damaging	0.52
R6267:Cacna1c	UTSW	6	118652714	missense	probably benign	0.09
R6296:Cacna1c	UTSW	6	118598723	missense	possibly damaging	0.52
R6296:Cacna1c	UTSW	6	118652714	missense	probably benign	0.09
R6307:Cacna1c	UTSW	6	118613953	missense	probably damaging	0.97
R6431:Cacna1c	UTSW	6	118751373	missense	probably damaging	1.00
R6467:Cacna1c	UTSW	6	118652710	missense	probably damaging	1.00
R7026:Cacna1c	UTSW	6	118637771	missense	probably damaging	1.00
R7049:Cacna1c	UTSW	6	118601163	missense	probably benign	0.35
R7072:Cacna1c	UTSW	6	118596106	missense
R7192:Cacna1c	UTSW	6	118656249	missense
R7243:Cacna1c	UTSW	6	118637729	critical splice donor site	probably null
R7250:Cacna1c	UTSW	6	118598005	missense
R7250:Cacna1c	UTSW	6	118696451	missense
R7264:Cacna1c	UTSW	6	118602195	missense
R7312:Cacna1c	UTSW	6	119057211	missense
R7392:Cacna1c	UTSW	6	118741920	missense
R7449:Cacna1c	UTSW	6	118602349	missense
R7451:Cacna1c	UTSW	6	118594020	missense	unknown
R7491:Cacna1c	UTSW	6	118613343	missense
R7507:Cacna1c	UTSW	6	119057239	missense
R7573:Cacna1c	UTSW	6	118604445	missense
R7702:Cacna1c	UTSW	6	118598766	missense
R7745:Cacna1c	UTSW	6	119052626	missense
R7834:Cacna1c	UTSW	6	118610581	missense
R7867:Cacna1c	UTSW	6	118776446	missense
R8199:Cacna1c	UTSW	6	118674584	missense	probably benign
R8252:Cacna1c	UTSW	6	118657374	missense
R8300:Cacna1c	UTSW	6	118598756	missense
R8319:Cacna1c	UTSW	6	118637774	missense
R8331:Cacna1c	UTSW	6	118630329	missense
R8446:Cacna1c	UTSW	6	118627450	missense
R8708:Cacna1c	UTSW	6	118627455	missense
R8717:Cacna1c	UTSW	6	119057353	missense
R8765:Cacna1c	UTSW	6	118603883	missense
R8772:Cacna1c	UTSW	6	118602322	missense
R8826:Cacna1c	UTSW	6	118734875	missense
R8859:Cacna1c	UTSW	6	118676319	missense
R8951:Cacna1c	UTSW	6	118613339	missense	probably damaging	1.00
R8963:Cacna1c	UTSW	6	118742271	nonsense	probably null
R9013:Cacna1c	UTSW	6	118742305	missense	probably damaging	1.00
R9032:Cacna1c	UTSW	6	118638505	nonsense	probably null
R9034:Cacna1c	UTSW	6	118751398	missense
R9085:Cacna1c	UTSW	6	118638505	nonsense	probably null
R9130:Cacna1c	UTSW	6	118613946	missense
R9197:Cacna1c	UTSW	6	118613989	missense
R9249:Cacna1c	UTSW	6	118613327	missense
R9276:Cacna1c	UTSW	6	118624433	missense
R9331:Cacna1c	UTSW	6	119107948	missense
R9342:Cacna1c	UTSW	6	119057374	missense
R9606:Cacna1c	UTSW	6	118610494	missense
R9697:Cacna1c	UTSW	6	118612637	missense
R9755:Cacna1c	UTSW	6	118674598	missense	probably damaging	1.00
R9773:Cacna1c	UTSW	6	118670410	missense
X0065:Cacna1c	UTSW	6	118657376	missense	probably damaging	1.00
Z1176:Cacna1c	UTSW	6	118697737	missense
Z1177:Cacna1c	UTSW	6	118757661	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCAAACCTTGGCACCTGTC -3'
(R):5'- GTCCACTAGACGCACTTAAAAGG -3'

Sequencing Primer
(F):5'- GCACGCCGAATCTGTGTC -3'
(R):5'- CTAGACGCACTTAAAAGGCATATG -3'

Posted On

2019-09-13