Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Cacna1c'

669361

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: 0.482) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118587240-119196418 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118627455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1437 (I1437N)

Ref Sequence

ENSEMBL: ENSMUSP00000108413 (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]

AlphaFold

Q01815

Predicted Effect

probably damaging
Transcript: ENSMUST00000075591
AA Change: I1354N

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

SMART Domains

Protein: ENSMUSP00000075021
Gene: ENSMUSG00000051331
AA Change: I1354N

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: I1354N

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

SMART Domains

Protein: ENSMUSP00000077433
Gene: ENSMUSG00000051331
AA Change: I1354N

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

possibly damaging
Transcript: ENSMUST00000112790
AA Change: I1354N

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108410
Gene: ENSMUSG00000051331
AA Change: I1354N

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

SMART Domains

Protein: ENSMUSP00000108413
Gene: ENSMUSG00000051331
AA Change: I1437N

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: I1084N

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

SMART Domains

Protein: ENSMUSP00000108444
Gene: ENSMUSG00000051331
AA Change: I1084N

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: I1374N

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

SMART Domains

Protein: ENSMUSP00000140833
Gene: ENSMUSG00000051331
AA Change: I1374N

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: I1384N

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

SMART Domains

Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331
AA Change: I1384N

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: I1402N

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

SMART Domains

Protein: ENSMUSP00000140693
Gene: ENSMUSG00000051331
AA Change: I1402N

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: I1350N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140341
Gene: ENSMUSG00000051331
AA Change: I1350N

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: I1384N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331
AA Change: I1384N

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: I1384N

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331
AA Change: I1384N

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: I1354N

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

SMART Domains

Protein: ENSMUSP00000140415
Gene: ENSMUSG00000051331
AA Change: I1354N

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: ENSMUST00000188106
AA Change: I1368N

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

SMART Domains

Protein: ENSMUSP00000140886
Gene: ENSMUSG00000051331
AA Change: I1368N

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

possibly damaging
Transcript: ENSMUST00000188522
AA Change: I1379N

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140920
Gene: ENSMUSG00000051331
AA Change: I1379N

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: I1354N

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

SMART Domains

Protein: ENSMUSP00000139981
Gene: ENSMUSG00000051331
AA Change: I1354N

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: I1382N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139855
Gene: ENSMUSG00000051331
AA Change: I1382N

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: I1371N

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

SMART Domains

Protein: ENSMUSP00000140220
Gene: ENSMUSG00000051331
AA Change: I1371N

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: ENSMUST00000190285
AA Change: I1409N

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

SMART Domains

Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331
AA Change: I1409N

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: I1195N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219223
AA Change: I1184N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219833
AA Change: I1220N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220022
AA Change: I1278N

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

Meta Mutation Damage Score

0.8649

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,503,930	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,594,291	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
Atad2b	T	A	12: 4,961,253	D504E	probably damaging	Het
Atg2b	T	A	12: 105,669,428		probably benign	Het
Bptf	C	A	11: 107,073,313	S1685I	probably damaging	Het
Bptf	T	A	11: 107,073,314	S1685C	probably damaging	Het
Capn1	T	C	19: 6,011,298	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580		probably null	Het
Ckap5	T	A	2: 91,595,478	N1285K	probably benign	Het
Col24a1	C	T	3: 145,545,265	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300		probably benign	Het
Exph5	T	A	9: 53,375,796	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897	C156S		Het
Gm6904	A	T	14: 59,244,813	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824		probably null	Het
Itpa	T	A	2: 130,675,719	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391		probably benign	Het
Lasp1	A	G	11: 97,806,883	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542	S226*	probably null	Het
Mios	G	A	6: 8,234,255	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796		probably benign	Het
Naca	A	T	10: 128,048,074	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,528,915	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,065,604	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773		probably null	Het
Olfr1245	C	A	2: 89,575,279	G149V	probably damaging	Het
Olfr1489	T	C	19: 13,634,037	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553		probably benign	Het
Plekhh2	A	T	17: 84,574,993	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866	H398R	unknown	Het
Rab26	A	T	17: 24,529,798	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864		probably benign	Het
Radil	A	G	5: 142,485,449	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416	I65T	probably damaging	Het
Sall1	A	T	8: 89,032,855	V207E	probably damaging	Het
Sart3	A	T	5: 113,744,667	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769		probably benign	Het
Tmco3	A	G	8: 13,295,998	M279V	probably benign	Het
Tmem39b	T	C	4: 129,676,398		probably benign	Het
Trio	T	A	15: 27,732,546	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,462,425	N839I	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532	V3016L		Het
Wdr11	A	G	7: 129,599,056	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092		probably benign	Het
Wrn	T	A	8: 33,292,643	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277		probably null	Het
Zfat	T	A	15: 68,084,429	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052	S62A	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
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
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
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'- ACACAGCCATTTAGAACAGAGG -3'
(R):5'- ATGGCTGTTTCTCAGAGGATCC -3'

Sequencing Primer
(F):5'- CCATTTAGAACAGAGGGAGAGCC -3'
(R):5'- GTTTCTCAGAGGATCCCTTCC -3'

Posted On

2021-04-30