Mutagenetix > Incidental Mutations

Incidental Mutation 'R0652:Cacna1c'

62290

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

038837-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R0652 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

118587240-119196418 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118602229 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1753 (F1753L)

Ref Sequence

ENSEMBL: ENSMUSP00000139981 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075591
AA Change: F1753L

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331
AA Change: F1753L

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

possibly damaging
Transcript: ENSMUST00000078320
AA Change: F1753L

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331
AA Change: F1753L

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 benign
Transcript: ENSMUST00000112790
AA Change: F1753L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331
AA Change: F1753L

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 benign
Transcript: ENSMUST00000112793
AA Change: F1836L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331
AA Change: F1836L

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

possibly damaging
Transcript: ENSMUST00000112825
AA Change: F1483L

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108444
Gene: ENSMUSG00000051331
AA Change: F1483L

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 benign
Transcript: ENSMUST00000185345
AA Change: F1773L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331
AA Change: F1773L

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 benign
Transcript: ENSMUST00000186889
AA Change: F1783L

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

SMART Domains

Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331
AA Change: F1783L

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 benign
Transcript: ENSMUST00000187317
AA Change: F1801L

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331
AA Change: F1801L

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 benign
Transcript: ENSMUST00000187386
AA Change: F1749L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000140341
Gene: ENSMUSG00000051331
AA Change: F1749L

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 benign
Transcript: ENSMUST00000187474
AA Change: F1783L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331
AA Change: F1783L

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

possibly damaging
Transcript: ENSMUST00000187940
AA Change: F1783L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331
AA Change: F1783L

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

possibly damaging
Transcript: ENSMUST00000188078
AA Change: F1753L

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331
AA Change: F1753L

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 benign
Transcript: ENSMUST00000188106
AA Change: F1767L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331
AA Change: F1767L

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

noncoding transcript
Transcript: ENSMUST00000188181

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188522
AA Change: F1778L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331
AA Change: F1778L

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 damaging
Transcript: ENSMUST00000188865
AA Change: F1753L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331
AA Change: F1753L

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

possibly damaging
Transcript: ENSMUST00000189389
AA Change: F1781L

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331
AA Change: F1781L

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

possibly damaging
Transcript: ENSMUST00000189520
AA Change: F1770L

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331
AA Change: F1770L

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

possibly damaging
Transcript: ENSMUST00000190285
AA Change: F1808L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331
AA Change: F1808L

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: ENSMUST00000219018
AA Change: F1594L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000219223
AA Change: F1583L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219833
AA Change: F1619L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220022
AA Change: F1677L

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.3%
20x: 90.1%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,152,063	N387D	probably benign	Het
Adgrg5	T	A	8: 94,934,157		probably null	Het
Ahi1	C	A	10: 20,979,461	H556Q	probably damaging	Het
Amph	A	G	13: 19,086,621		probably null	Het
Apol7a	T	C	15: 77,389,855		probably benign	Het
Apoo-ps	A	T	13: 107,414,410		noncoding transcript	Het
Arpc1b	A	G	5: 145,126,860	D306G	probably damaging	Het
Astn2	T	C	4: 65,794,558	D615G	probably damaging	Het
Atm	A	G	9: 53,486,014	V1673A	probably damaging	Het
B3gnt3	A	T	8: 71,693,822	V21E	probably benign	Het
Bco1	A	G	8: 117,105,696	D77G	probably damaging	Het
Brinp2	A	T	1: 158,246,621	H643Q	probably damaging	Het
Bsn	A	G	9: 108,105,742	F3604S	unknown	Het
Cd74	T	C	18: 60,811,885	S201P	probably damaging	Het
Cep192	T	A	18: 67,807,265	L101Q	probably benign	Het
Cfap161	T	C	7: 83,793,276	I110V	probably null	Het
Cnksr3	T	C	10: 7,120,463	D257G	probably damaging	Het
Col14a1	A	C	15: 55,344,882	E121A	unknown	Het
Cpne3	T	C	4: 19,532,486	D309G	probably benign	Het
Ctnnd1	A	G	2: 84,602,896	I609T	probably benign	Het
Cyp2s1	A	G	7: 25,809,258	V253A	probably damaging	Het
Dock7	T	C	4: 99,055,349	D552G	possibly damaging	Het
Dpyd	A	G	3: 119,427,275	D965G	probably damaging	Het
Efcab2	T	A	1: 178,481,346	M138K	probably damaging	Het
Eml3	T	C	19: 8,933,285	S204P	probably damaging	Het
Fbxw16	T	A	9: 109,436,168	S432C	possibly damaging	Het
Fbxw20	T	G	9: 109,232,332	Q116H	probably damaging	Het
Fech	A	G	18: 64,458,169	S395P	probably damaging	Het
Fgf7	A	G	2: 126,035,955	K81E	probably benign	Het
Fras1	T	A	5: 96,781,340	Y3868N	possibly damaging	Het
Ganab	A	T	19: 8,915,402		probably null	Het
Gfra1	T	C	19: 58,300,554	N153S	possibly damaging	Het
Gja4	T	A	4: 127,312,127	Y281F	probably benign	Het
Gm15448	T	A	7: 3,822,763	Y369F	probably benign	Het
Gm4763	T	A	7: 24,724,197	N14I	possibly damaging	Het
Gm5141	T	C	13: 62,774,132	T407A	probably damaging	Het
Gm5422	T	C	10: 31,249,281		noncoding transcript	Het
Greb1	T	C	12: 16,696,456	Y1271C	probably damaging	Het
Hp1bp3	C	A	4: 138,228,769	N50K	possibly damaging	Het
Hspg2	T	C	4: 137,514,722	F589S	probably damaging	Het
Ido1	A	G	8: 24,585,244	F183S	probably damaging	Het
Iqgap1	T	A	7: 80,736,395	K936I	probably damaging	Het
Kdm4a	T	C	4: 118,175,689	D60G	probably benign	Het
L3mbtl4	G	A	17: 68,774,291	C558Y	probably damaging	Het
Lrrc28	T	C	7: 67,618,085	N98S	probably damaging	Het
Map1a	A	G	2: 121,302,783	D1360G	probably benign	Het
Megf10	C	T	18: 57,277,724	P702S	probably benign	Het
Met	A	G	6: 17,491,710	E157G	probably benign	Het
Mff	A	G	1: 82,750,564	D187G	possibly damaging	Het
Mlph	A	T	1: 90,942,908	I514F	possibly damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Myo15b	T	C	11: 115,864,642	V976A	probably benign	Het
Myo9a	A	G	9: 59,871,926	D1655G	probably benign	Het
Ncoa6	C	T	2: 155,391,211	G2059D	probably benign	Het
Ndst4	A	T	3: 125,611,539	H481L	possibly damaging	Het
Nipbl	A	G	15: 8,303,480	S2220P	probably benign	Het
Nom1	C	A	5: 29,435,311	P212T	probably damaging	Het
Nsd1	A	G	13: 55,247,586	D1000G	possibly damaging	Het
Nudt9	T	C	5: 104,050,601	F44S	possibly damaging	Het
Numb	C	T	12: 83,795,792	V537I	probably damaging	Het
Olfr1404	T	A	1: 173,215,957	I102N	possibly damaging	Het
Olfr1463	A	T	19: 13,234,535	Y95F	possibly damaging	Het
Olfr183	A	G	16: 58,999,700	N5S	probably damaging	Het
Olfr60	A	T	7: 140,345,632	M119K	probably damaging	Het
Olfr638	A	G	7: 104,003,239		probably null	Het
Olfr801	T	A	10: 129,670,379	T47S	probably benign	Het
Osgin1	A	T	8: 119,445,472	Y335F	probably damaging	Het
Pcdh10	T	A	3: 45,379,764	V171E	probably damaging	Het
Plxna4	T	C	6: 32,185,501	N1359S	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Prr5l	T	C	2: 101,772,290	T2A	possibly damaging	Het
Rbp3	T	A	14: 33,958,648	I1069N	possibly damaging	Het
Rnf144b	A	G	13: 47,220,507	Y60C	probably damaging	Het
Sbno2	A	T	10: 80,067,294	V396E	probably damaging	Het
Sdk1	A	G	5: 141,954,958	T494A	probably benign	Het
Serac1	G	T	17: 6,051,756	D384E	probably damaging	Het
Sgk1	A	G	10: 21,882,657	N7D	probably damaging	Het
Sigirr	A	T	7: 141,093,067	V69D	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
St6gal2	T	C	17: 55,498,289	Y396H	probably benign	Het
Ttn	A	T	2: 76,768,612	F19319Y	probably damaging	Het
Ubr4	T	A	4: 139,401,326	I599N	probably damaging	Het
Vmn1r213	A	G	13: 23,011,394		probably benign	Het
Vmn2r96	T	A	17: 18,597,568	M469K	probably benign	Het
Wasf1	T	A	10: 40,931,906		probably null	Het
Wdr20rt	T	C	12: 65,225,915	S51P	probably 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
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
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
X0065:Cacna1c	UTSW	6	118657376	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGACCCAACTGACAAGTCCCTG -3'
(R):5'- TGATGGAGACGCCTTCTACACCTG -3'

Sequencing Primer
(F):5'- TAGAGCTGAGCTTCCATGC -3'
(R):5'- TCTGTCTTGTCCCCAGAGG -3'

Posted On

2013-07-30