Mutagenetix > Incidental Mutations

Incidental Mutation 'R0555:Cacna1c'

45461

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

038747-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R0555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118587240-119196418 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118612625 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1446 (R1446H)

Ref Sequence

ENSEMBL: ENSMUSP00000151458 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075591] [ENSMUST00000078320] [ENSMUST00000112790] [ENSMUST00000112793] [ENSMUST00000112825] [ENSMUST00000185345] [ENSMUST00000186889] [ENSMUST00000187317] [ENSMUST00000187386] [ENSMUST00000187474] [ENSMUST00000187940] [ENSMUST00000188078] [ENSMUST00000190285] [ENSMUST00000188106] [ENSMUST00000188865] [ENSMUST00000189389] [ENSMUST00000189520] [ENSMUST00000188522] [ENSMUST00000219223] [ENSMUST00000219833] [ENSMUST00000219018] [ENSMUST00000220022]

Predicted Effect

probably damaging
Transcript: ENSMUST00000075591
AA Change: R1522H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331
AA Change: R1522H

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 damaging
Transcript: ENSMUST00000078320
AA Change: R1522H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331
AA Change: R1522H

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 damaging
Transcript: ENSMUST00000112790
AA Change: R1522H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331
AA Change: R1522H

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 damaging
Transcript: ENSMUST00000112793
AA Change: R1605H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331
AA Change: R1605H

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 damaging
Transcript: ENSMUST00000112825
AA Change: R1252H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108444
Gene: ENSMUSG00000051331
AA Change: R1252H

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	1	140	1.8e-31	PFAM
PDB:4DEY\|B	141	264	1e-54	PDB
low complexity region	265	279	N/A	INTRINSIC
Pfam:Ion_trans	319	513	2e-46	PFAM
low complexity region	528	538	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
low complexity region	606	613	N/A	INTRINSIC
Pfam:Ion_trans	659	906	1e-43	PFAM
Pfam:Ion_trans	994	1205	7.1e-70	PFAM
Pfam:PKD_channel	1041	1212	1.6e-8	PFAM
Blast:EFh	1226	1254	4e-9	BLAST
Ca_chan_IQ	1340	1374	3.28e-15	SMART
low complexity region	1494	1504	N/A	INTRINSIC
low complexity region	1674	1688	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185345
AA Change: R1542H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331
AA Change: R1542H

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 damaging
Transcript: ENSMUST00000186889
AA Change: R1552H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331
AA Change: R1552H

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 damaging
Transcript: ENSMUST00000187317
AA Change: R1570H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331
AA Change: R1570H

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 damaging
Transcript: ENSMUST00000187386
AA Change: R1518H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140341
Gene: ENSMUSG00000051331
AA Change: R1518H

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 damaging
Transcript: ENSMUST00000187474
AA Change: R1552H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331
AA Change: R1552H

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

noncoding transcript
Transcript: ENSMUST00000187849

Predicted Effect

probably damaging
Transcript: ENSMUST00000187940
AA Change: R1552H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331
AA Change: R1552H

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 damaging
Transcript: ENSMUST00000188078
AA Change: R1522H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331
AA Change: R1522H

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 damaging
Transcript: ENSMUST00000190285
AA Change: R1577H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331
AA Change: R1577H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188106
AA Change: R1536H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331
AA Change: R1536H

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 damaging
Transcript: ENSMUST00000188865
AA Change: R1522H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331
AA Change: R1522H

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 damaging
Transcript: ENSMUST00000189389
AA Change: R1550H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331
AA Change: R1550H

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 damaging
Transcript: ENSMUST00000189520
AA Change: R1539H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331
AA Change: R1539H

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 damaging
Transcript: ENSMUST00000188522
AA Change: R1547H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331
AA Change: R1547H

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

noncoding transcript
Transcript: ENSMUST00000188181

Predicted Effect

probably damaging
Transcript: ENSMUST00000219223
AA Change: R1352H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219833
AA Change: R1388H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219018
AA Change: R1363H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220022
AA Change: R1446H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,754,234	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,671		probably benign	Het
Asap1	A	G	15: 64,094,364	L941P	probably damaging	Het
Aurka	G	A	2: 172,367,147	R23C	probably benign	Het
Casp8ap2	T	A	4: 32,640,381	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,290,504	A418T	possibly damaging	Het
Cpxm2	A	T	7: 132,044,043	Y715*	probably null	Het
Csmd1	T	C	8: 16,185,273	M1179V	probably benign	Het
Ddx21	A	T	10: 62,587,528	F632I	probably damaging	Het
Dnaic1	C	A	4: 41,625,335	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,431,542	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,214,518		probably null	Het
Dync1li2	A	T	8: 104,420,665	S466T	probably benign	Het
Ears2	T	C	7: 122,048,444	T206A	probably benign	Het
Elmod1	A	T	9: 53,931,592		probably benign	Het
Eps8l3	C	A	3: 107,892,345	D590E	probably benign	Het
Etfdh	A	T	3: 79,605,805	H370Q	probably benign	Het
Fam83g	C	A	11: 61,707,663	A792E	probably benign	Het
Ffar3	G	T	7: 30,855,537	Y119*	probably null	Het
Fosb	G	T	7: 19,307,213	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,263,114	L3F	probably damaging	Het
Foxo4	A	G	X: 101,255,178	K65E	probably damaging	Het
Frem2	A	G	3: 53,516,860	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,608,137	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927	G429C	probably damaging	Het
Gimap1	T	C	6: 48,741,429		probably benign	Het
Gm17657	A	T	17: 29,519,571	F74I	probably benign	Het
Gnas	A	G	2: 174,298,511	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,552,328	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781		probably benign	Het
H2-M10.5	G	A	17: 36,774,728	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,349,323	Q412H	probably benign	Het
Hecw1	G	T	13: 14,236,941	T1058N	probably damaging	Het
Heph	A	T	X: 96,558,084	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,046,075	E53A	possibly damaging	Het
Insrr	T	G	3: 87,814,437		probably benign	Het
Ipo11	A	T	13: 106,892,461	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,118,873	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,225,789	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,847,571	S1027C	probably damaging	Het
Kprp	G	C	3: 92,824,357	P462R	unknown	Het
Lman1l	T	C	9: 57,614,101	T193A	probably benign	Het
Lrit3	A	T	3: 129,791,296	V271D	probably damaging	Het
Map4	T	A	9: 109,979,103		probably benign	Het
Mark4	A	C	7: 19,448,673		probably benign	Het
Mfsd14b	A	G	13: 65,078,445	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,161,453	I162N	possibly damaging	Het
Mrpl43	A	T	19: 45,005,952		probably benign	Het
Mrpl47	A	G	3: 32,736,693	F16S	probably benign	Het
Myh2	G	T	11: 67,178,967	G380C	probably damaging	Het
Myo15	T	C	11: 60,521,638	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,733,223		probably benign	Het
Neu3	A	G	7: 99,814,183	V111A	probably damaging	Het
Nol4l	T	C	2: 153,417,684		probably null	Het
Nphp3	C	A	9: 104,023,434	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,233,118		probably null	Het
Olfr292	A	G	7: 86,695,308	N284S	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr598	T	C	7: 103,328,963	V159A	probably benign	Het
Olfr791	T	C	10: 129,526,896	I223T	possibly damaging	Het
Pex1	A	G	5: 3,606,130	E319G	possibly damaging	Het
Phtf1	C	A	3: 104,004,469	T709K	probably damaging	Het
Plek2	A	T	12: 78,892,172	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,107,469	C421*	probably null	Het
Polk	A	C	13: 96,484,179	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,729,174	S471P	probably damaging	Het
Prickle2	A	T	6: 92,458,565	F74L	probably benign	Het
Prl7d1	A	T	13: 27,712,055	V113D	probably benign	Het
Prr14	C	T	7: 127,472,095		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ret	A	G	6: 118,178,610	V375A	probably damaging	Het
Rora	T	C	9: 69,361,746	F41S	probably damaging	Het
Sall1	T	C	8: 89,031,758	T573A	probably benign	Het
Shb	A	G	4: 45,458,321	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,592,410		probably null	Het
Sltm	T	C	9: 70,586,081	F769L	probably damaging	Het
Snx9	T	A	17: 5,918,413	M328K	probably damaging	Het
Stk25	G	T	1: 93,624,591	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,316,744	A195T	probably damaging	Het
Tmem8	T	C	17: 26,117,114	L130S	probably benign	Het
Trcg1	C	T	9: 57,242,333	T396M	probably damaging	Het
Trim30b	A	G	7: 104,357,298	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,302,090		probably benign	Het
Ttll4	A	G	1: 74,688,280	H827R	probably damaging	Het
Urgcp	T	C	11: 5,717,477	E287G	probably damaging	Het
Usp2	G	T	9: 44,092,784	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,505,087	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 42,266,018	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,928,528	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,293,449	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,772,937		probably benign	Het
Zcchc6	A	G	13: 59,800,317	V328A	probably benign	Het
Zfp292	T	C	4: 34,807,194	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,516,520		probably benign	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
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
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
R7401:Cacna1c	UTSW	6	119052708	critical splice acceptor site	probably null
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
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'- GGCACAAGGCATTCACCATGACTG -3'
(R):5'- CCCATAACTGTTGACTGACCATCCC -3'

Sequencing Primer
(F):5'- GGCATTCACCATGACTGTTGTTC -3'
(R):5'- GTCCATTCTACCTGGAATATAGTGC -3'

Posted On

2013-06-11