Mutagenetix > Incidental Mutations

Incidental Mutation 'R1611:Cacna1h'

176827

Institutional Source

Beutler Lab

Gene Symbol

Cacna1h

Ensembl Gene

ENSMUSG00000024112

Gene Name

calcium channel, voltage-dependent, T type, alpha 1H subunit

Synonyms

Cav3.2, alpha13.2, T-type Cav3.2

MMRRC Submission

039648-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1611 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

25374285-25433783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25381471 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1632 (I1632T)

Ref Sequence

ENSEMBL: ENSMUSP00000125541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078496] [ENSMUST00000159048] [ENSMUST00000159610]

Predicted Effect

probably damaging
Transcript: ENSMUST00000078496
AA Change: I1632T

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

SMART Domains

Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: I1632T

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
Pfam:Ion_trans	138	418	8.4e-65	PFAM
low complexity region	500	511	N/A	INTRINSIC
low complexity region	515	531	N/A	INTRINSIC
low complexity region	557	568	N/A	INTRINSIC
low complexity region	708	723	N/A	INTRINSIC
Pfam:Ion_trans	824	1011	4.7e-46	PFAM
low complexity region	1130	1147	N/A	INTRINSIC
low complexity region	1248	1259	N/A	INTRINSIC
Pfam:Ion_trans	1341	1565	4.5e-56	PFAM
low complexity region	1576	1602	N/A	INTRINSIC
Pfam:Ion_trans	1656	1864	7.8e-48	PFAM
Pfam:PKD_channel	1714	1871	1.2e-10	PFAM
Blast:Tryp_SPc	1915	2077	1e-38	BLAST
low complexity region	2086	2097	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159048
AA Change: I1526T

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

SMART Domains

Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: I1526T

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	32	312	8e-65	PFAM
low complexity region	394	405	N/A	INTRINSIC
low complexity region	409	425	N/A	INTRINSIC
low complexity region	451	462	N/A	INTRINSIC
low complexity region	602	617	N/A	INTRINSIC
Pfam:Ion_trans	718	905	4.6e-46	PFAM
low complexity region	1024	1041	N/A	INTRINSIC
low complexity region	1142	1153	N/A	INTRINSIC
Pfam:Ion_trans	1235	1459	4.3e-56	PFAM
low complexity region	1470	1496	N/A	INTRINSIC
Pfam:PKD_channel	1524	1608	1.6e-6	PFAM
Pfam:Ion_trans	1550	1758	7.6e-48	PFAM
Pfam:PKD_channel	1609	1765	1.2e-10	PFAM
Blast:Tryp_SPc	1809	1854	9e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159331

Predicted Effect

probably damaging
Transcript: ENSMUST00000159610
AA Change: I1632T

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

SMART Domains

Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: I1632T

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
Pfam:Ion_trans	99	430	7e-79	PFAM
low complexity region	500	511	N/A	INTRINSIC
low complexity region	515	531	N/A	INTRINSIC
low complexity region	557	568	N/A	INTRINSIC
low complexity region	708	723	N/A	INTRINSIC
Pfam:Ion_trans	789	1023	2.4e-58	PFAM
low complexity region	1130	1147	N/A	INTRINSIC
low complexity region	1248	1259	N/A	INTRINSIC
Pfam:Ion_trans	1304	1577	4.5e-65	PFAM
Pfam:Ion_trans	1621	1876	4.2e-59	PFAM
Pfam:PKD_channel	1629	1715	9.3e-7	PFAM
Pfam:PKD_channel	1713	1871	2.2e-11	PFAM
Blast:Tryp_SPc	1915	2077	1e-38	BLAST
low complexity region	2086	2097	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161035

SMART Domains

Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	1	73	2.1e-9	PFAM
Pfam:Ion_trans	72	170	2.8e-17	PFAM
Blast:Tryp_SPc	209	291	3e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000161658

Meta Mutation Damage Score

0.6506

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: Voltage-dependent Ca(2+) channels mediate the entry of Ca(2+) ions into excitable cells and are involved in a variety of Ca(2+)-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. The protein encoded by this gene is an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	G	A	1: 136,216,117	P527L	probably damaging	Het
Acsl6	A	T	11: 54,325,564	I186F	possibly damaging	Het
Actr6	T	A	10: 89,732,202	K14*	probably null	Het
Adgrv1	A	T	13: 81,559,117	V1390E	probably damaging	Het
Akap1	C	T	11: 88,845,278	R186K	probably benign	Het
Alg10b	T	A	15: 90,225,781	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,442,852	G407S	probably damaging	Het
Atp9a	T	C	2: 168,673,569	M401V	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bclaf1	T	C	10: 20,323,252		probably benign	Het
Bcr	T	A	10: 75,125,202		probably null	Het
Bivm	T	C	1: 44,126,747	I119T	possibly damaging	Het
Capn9	G	A	8: 124,611,512	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,641,575		probably benign	Het
Cdk18	T	A	1: 132,122,375	I21F	probably damaging	Het
Cep85l	T	C	10: 53,348,681	T271A	probably benign	Het
Chrm5	T	C	2: 112,479,187	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,361,828		probably benign	Het
Cpt1c	T	C	7: 44,960,112	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,249,303	Y64C	unknown	Het
Ddb1	T	A	19: 10,612,888	C260S	probably damaging	Het
Ddb1	T	A	19: 10,626,764		probably null	Het
Ddx58	T	C	4: 40,223,862	Y339C	probably damaging	Het
Depdc5	C	A	5: 32,990,953	Q1478K	probably damaging	Het
Diaph1	A	C	18: 37,900,702	M247R	unknown	Het
Dusp8	T	C	7: 142,082,957	S299G	probably benign	Het
Erbb4	C	A	1: 68,040,388	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,295,265	I370N	possibly damaging	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843	Y27*	probably null	Het
Gnl1	C	T	17: 35,987,549	T395I	probably damaging	Het
Hpse2	G	A	19: 42,789,065	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,009,899	I116V	probably benign	Het
Kif24	A	T	4: 41,423,552	V233E	probably benign	Het
Klhl5	A	G	5: 65,164,649	T673A	probably benign	Het
Kmt2c	C	A	5: 25,359,311		probably null	Het
Lipg	T	C	18: 74,948,059	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,577,218	L109Q	probably null	Het
Lyst	A	G	13: 13,634,897	E384G	probably damaging	Het
Micalcl	T	A	7: 112,381,464	I105N	probably damaging	Het
Muc4	C	T	16: 32,750,986	T288I	possibly damaging	Het
Naa35	G	T	13: 59,628,933	R574L	probably benign	Het
Ncor2	T	C	5: 125,110,020		probably benign	Het
Nedd9	T	A	13: 41,316,930	D249V	probably benign	Het
Nsg1	T	A	5: 38,138,716	K38*	probably null	Het
Nup155	T	A	15: 8,130,160	D518E	probably damaging	Het
Olfr152	T	A	2: 87,782,624	I28N	probably benign	Het
Ovol1	T	A	19: 5,551,070	H231L	probably damaging	Het
Parg	A	G	14: 32,238,570	I586V	probably damaging	Het
Pde7b	T	C	10: 20,434,490	N242S	probably benign	Het
Pias3	T	A	3: 96,699,697		probably null	Het
Pramef12	A	T	4: 144,392,812	V395E	probably benign	Het
Ptprf	A	G	4: 118,236,233	V404A	probably benign	Het
Rnf145	T	C	11: 44,551,798	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,570,852	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,653,505	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,492,874	I213T	possibly damaging	Het
Sil1	A	T	18: 35,269,088	V331E	possibly damaging	Het
Ski	A	G	4: 155,159,938	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,420,379	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,533,377	E75G	probably benign	Het
Sp1	T	A	15: 102,430,935	I436N	probably damaging	Het
Taf4b	A	T	18: 14,844,469	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,956,737		probably benign	Het
Vmn2r1	T	A	3: 64,104,537	C606*	probably null	Het
Wdr63	T	C	3: 146,095,358	Y115C	probably damaging	Het
Zfp341	C	A	2: 154,645,703	H702Q	probably damaging	Het

Other mutations in Cacna1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Cacna1h	APN	17	25381508	missense	probably damaging	1.00
IGL01412:Cacna1h	APN	17	25391950	missense	probably benign	0.24
IGL01625:Cacna1h	APN	17	25383485	missense	probably damaging	0.97
IGL01625:Cacna1h	APN	17	25385712	missense	possibly damaging	0.95
IGL01684:Cacna1h	APN	17	25388716	missense	probably damaging	1.00
IGL01862:Cacna1h	APN	17	25383483	missense	probably damaging	1.00
IGL01877:Cacna1h	APN	17	25388050	missense	probably damaging	1.00
IGL02040:Cacna1h	APN	17	25397611	missense	probably benign	0.10
IGL02190:Cacna1h	APN	17	25433026	missense	probably benign
IGL02686:Cacna1h	APN	17	25385749	missense	possibly damaging	0.80
IGL02883:Cacna1h	APN	17	25380532	missense	probably damaging	1.00
IGL02945:Cacna1h	APN	17	25388059	missense	probably damaging	1.00
IGL03025:Cacna1h	APN	17	25432894	nonsense	probably null
IGL03095:Cacna1h	APN	17	25383778	unclassified	probably benign
IGL03207:Cacna1h	APN	17	25391333	missense	probably damaging	1.00
IGL02991:Cacna1h	UTSW	17	25391312	missense	possibly damaging	0.56
IGL03097:Cacna1h	UTSW	17	25391144	missense	probably damaging	1.00
R0010:Cacna1h	UTSW	17	25380844	missense	probably damaging	1.00
R0194:Cacna1h	UTSW	17	25380924	unclassified	probably benign
R0361:Cacna1h	UTSW	17	25389422	missense	probably damaging	1.00
R0501:Cacna1h	UTSW	17	25388667	missense	probably damaging	1.00
R0558:Cacna1h	UTSW	17	25381550	missense	probably damaging	1.00
R0588:Cacna1h	UTSW	17	25387564	missense	probably damaging	1.00
R0626:Cacna1h	UTSW	17	25393546	missense	possibly damaging	0.92
R0811:Cacna1h	UTSW	17	25388628	missense	probably damaging	1.00
R0812:Cacna1h	UTSW	17	25388628	missense	probably damaging	1.00
R0964:Cacna1h	UTSW	17	25378775	unclassified	probably benign
R1351:Cacna1h	UTSW	17	25391951	missense	probably benign	0.14
R1457:Cacna1h	UTSW	17	25397620	missense	probably damaging	1.00
R1521:Cacna1h	UTSW	17	25397354	missense	possibly damaging	0.57
R1564:Cacna1h	UTSW	17	25377861	nonsense	probably null
R1669:Cacna1h	UTSW	17	25383471	missense	probably damaging	1.00
R1835:Cacna1h	UTSW	17	25392076	missense	probably benign	0.01
R1858:Cacna1h	UTSW	17	25380807	missense	probably damaging	1.00
R1887:Cacna1h	UTSW	17	25376887	missense	probably benign	0.01
R2039:Cacna1h	UTSW	17	25391845	missense	probably benign	0.03
R2091:Cacna1h	UTSW	17	25432876	missense	possibly damaging	0.95
R2133:Cacna1h	UTSW	17	25383528	missense	probably damaging	1.00
R2203:Cacna1h	UTSW	17	25380260	missense	probably damaging	1.00
R2205:Cacna1h	UTSW	17	25380260	missense	probably damaging	1.00
R2206:Cacna1h	UTSW	17	25385013	missense	probably benign	0.10
R2207:Cacna1h	UTSW	17	25385013	missense	probably benign	0.10
R2224:Cacna1h	UTSW	17	25385943	missense	probably benign	0.03
R2226:Cacna1h	UTSW	17	25385943	missense	probably benign	0.03
R2261:Cacna1h	UTSW	17	25433165	missense	possibly damaging	0.91
R2361:Cacna1h	UTSW	17	25384012	missense	probably damaging	1.00
R2917:Cacna1h	UTSW	17	25395452	missense	probably damaging	0.97
R3031:Cacna1h	UTSW	17	25433134	missense	probably damaging	0.99
R3856:Cacna1h	UTSW	17	25392453	missense	probably damaging	1.00
R4230:Cacna1h	UTSW	17	25387863	missense	probably damaging	1.00
R4408:Cacna1h	UTSW	17	25380627	missense	probably damaging	1.00
R4687:Cacna1h	UTSW	17	25393910	missense	possibly damaging	0.47
R4887:Cacna1h	UTSW	17	25377287	missense	possibly damaging	0.86
R4895:Cacna1h	UTSW	17	25389422	missense	probably damaging	0.99
R5067:Cacna1h	UTSW	17	25397808	missense	probably damaging	1.00
R5077:Cacna1h	UTSW	17	25375250	missense	probably benign	0.02
R5148:Cacna1h	UTSW	17	25387545	missense	probably damaging	1.00
R5336:Cacna1h	UTSW	17	25392231	missense	probably damaging	0.99
R5450:Cacna1h	UTSW	17	25383186	missense	probably damaging	1.00
R5616:Cacna1h	UTSW	17	25377667	missense	probably damaging	1.00
R5738:Cacna1h	UTSW	17	25387049	missense	probably damaging	0.99
R5883:Cacna1h	UTSW	17	25376922	missense	probably benign	0.00
R5954:Cacna1h	UTSW	17	25383201	missense	probably damaging	1.00
R5961:Cacna1h	UTSW	17	25377272	missense	probably benign	0.01
R6110:Cacna1h	UTSW	17	25391276	missense	probably benign	0.10
R6125:Cacna1h	UTSW	17	25385694	missense	probably benign	0.00
R6189:Cacna1h	UTSW	17	25397844	missense	probably damaging	1.00
R6216:Cacna1h	UTSW	17	25378819	missense	probably damaging	1.00
R6259:Cacna1h	UTSW	17	25397656	critical splice acceptor site	probably null
R6296:Cacna1h	UTSW	17	25383079	missense	probably damaging	1.00
R6394:Cacna1h	UTSW	17	25387481	missense	probably benign	0.32
R6695:Cacna1h	UTSW	17	25393740	missense	probably damaging	1.00
R6746:Cacna1h	UTSW	17	25381550	missense	probably damaging	1.00
R6914:Cacna1h	UTSW	17	25385039	missense	probably benign
R6942:Cacna1h	UTSW	17	25385039	missense	probably benign
R6955:Cacna1h	UTSW	17	25388056	missense	probably damaging	1.00
R7041:Cacna1h	UTSW	17	25394003	missense	probably damaging	0.98
R7120:Cacna1h	UTSW	17	25391507	missense	probably benign	0.31
R7125:Cacna1h	UTSW	17	25383536	missense	probably damaging	0.99
R7182:Cacna1h	UTSW	17	25377655	missense	probably damaging	1.00
R7270:Cacna1h	UTSW	17	25384765	missense	probably damaging	1.00
R7274:Cacna1h	UTSW	17	25378837	missense	probably damaging	1.00
R7319:Cacna1h	UTSW	17	25389461	missense	possibly damaging	0.94
R7406:Cacna1h	UTSW	17	25385626	missense	possibly damaging	0.56
R7634:Cacna1h	UTSW	17	25392109	missense	possibly damaging	0.87
R7684:Cacna1h	UTSW	17	25389372	missense	probably damaging	0.99
R7769:Cacna1h	UTSW	17	25385805	missense	probably damaging	1.00
V1662:Cacna1h	UTSW	17	25377309	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- ATCAGTGTCCACACTTGCAGACAG -3'
(R):5'- TAGCACTCCAGATTGAGGTCAGGG -3'

Sequencing Primer
(F):5'- gcagacaggcaggcagg -3'
(R):5'- AGGGCTTCTGTCTGGCAAAG -3'

Posted On

2014-04-24