Mutagenetix > Incidental Mutations

Incidental Mutation 'R1669:Cacna1h'

187497

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

039705-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25374285-25433783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25383471 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 1422 (V1422L)

Ref Sequence

ENSEMBL: ENSMUSP00000123741 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000078496
AA Change: V1528L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: V1528L

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: V1422L

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

SMART Domains

Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: V1422L

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: V1528L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: V1528L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162820

Meta Mutation Damage Score

0.1747

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,257,183	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,710,836		probably benign	Het
Aplp2	G	T	9: 31,167,733		probably benign	Het
Arhgap11a	T	C	2: 113,841,912	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,732,158	H1182L	possibly damaging	Het
Ash1l	G	A	3: 89,067,242		probably null	Het
Bicdl1	C	A	5: 115,656,016	V224L	possibly damaging	Het
Card10	T	C	15: 78,793,953	E365G	probably benign	Het
Cd180	C	T	13: 102,705,490	T348I	probably damaging	Het
Cds2	T	A	2: 132,295,519		probably null	Het
Chaf1a	C	A	17: 56,063,339	D601E	probably benign	Het
Coprs	C	T	8: 13,885,704	W12*	probably null	Het
Cpsf3	T	A	12: 21,305,331	M424K	probably damaging	Het
Cxcl13	T	A	5: 95,958,741	N57K	probably damaging	Het
Dact1	C	T	12: 71,318,773	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,522,924	K438E	probably benign	Het
Dopey2	T	A	16: 93,769,660	S992T	probably damaging	Het
Dusp11	A	T	6: 85,950,026	H202Q	probably benign	Het
Ezr	T	C	17: 6,739,313	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,890,577	V6A	unknown	Het
Fam227a	G	A	15: 79,620,677		probably null	Het
Gapvd1	T	G	2: 34,730,682		probably null	Het
Gm10267	T	C	18: 44,157,300	R47G	probably damaging	Het
Gm13088	T	G	4: 143,654,346	E369A	possibly damaging	Het
Gm6614	T	A	6: 141,987,689	I457F	probably benign	Het
Hectd3	T	A	4: 116,999,643	D462E	probably damaging	Het
Hfe	A	T	13: 23,706,127	L133*	probably null	Het
Hpcal4	T	C	4: 123,189,076	F72L	probably damaging	Het
Itgb4	G	A	11: 115,991,330	R825H	probably benign	Het
Kcnh8	T	A	17: 52,893,968	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,062,460	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,068,548	R488C	probably damaging	Het
Kif1c	C	T	11: 70,728,397	L953F	probably damaging	Het
Klra8	A	T	6: 130,115,629	C236*	probably null	Het
Lca5l	T	C	16: 96,159,808	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,981,650	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Lyst	G	A	13: 13,644,087	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,525		probably null	Het
Mmp13	A	G	9: 7,277,926	D273G	probably benign	Het
Morc2a	G	A	11: 3,675,885	V162M	probably benign	Het
Msh4	C	T	3: 153,876,720	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,311,794	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,436,134	L476F	probably damaging	Het
Nox4	C	A	7: 87,295,889	Q118K	probably benign	Het
Nxf1	A	G	19: 8,772,131	T131A	possibly damaging	Het
Olfr1261	T	A	2: 89,993,800		probably null	Het
Olfr13	T	A	6: 43,174,821	S278R	probably damaging	Het
Olfr1361	A	T	13: 21,659,286	S12R	possibly damaging	Het
Olfr1447	A	T	19: 12,901,288	I164K	possibly damaging	Het
Olfr518	T	A	7: 108,880,713	T298S	probably benign	Het
Olfr643	A	T	7: 104,059,309	S98T	probably benign	Het
Oog3	C	A	4: 144,158,438	R309S	probably benign	Het
Oosp3	C	T	19: 11,701,014		probably benign	Het
P2ry6	A	G	7: 100,938,423	V243A	probably damaging	Het
Pgc	C	A	17: 47,733,790	P321T	probably damaging	Het
Prkd1	G	A	12: 50,394,926	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,734,058	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,403,098	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,351,280	F162S	probably damaging	Het
Ros1	A	T	10: 52,161,811	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,265,927	D395G	probably benign	Het
Scn8a	T	G	15: 101,011,120	V823G	probably damaging	Het
Sema3d	T	A	5: 12,508,084		probably benign	Het
Slc12a2	T	C	18: 57,904,235	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,795,113	T382I	probably benign	Het
Slc16a12	T	A	19: 34,680,381	I41L	probably benign	Het
Slc1a1	C	A	19: 28,911,794	T489K	probably benign	Het
Slc24a3	C	T	2: 145,613,592	P467L	probably damaging	Het
Snai2	A	T	16: 14,707,044	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,475,422	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,917,794		probably benign	Het
Srgap3	G	A	6: 112,722,904	P1038S	probably benign	Het
Ttn	T	C	2: 76,724,463	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,062,944	M300K	possibly damaging	Het
Vwf	T	C	6: 125,647,906	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,156,131	D360G	probably damaging	Het
Zfp366	T	C	13: 99,229,561	M410T	probably damaging	Het
Zfp608	C	T	18: 54,987,739	V259I	probably benign	Het
Zfp69	C	T	4: 120,947,498		probably benign	Het
Zfp995	T	C	17: 21,879,964	T430A	probably benign	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
R1611:Cacna1h	UTSW	17	25381471	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
R7856:Cacna1h	UTSW	17	25389477	missense	probably damaging	0.98
R7876:Cacna1h	UTSW	17	25375251	missense	probably benign
R7898:Cacna1h	UTSW	17	25392276	missense	probably damaging	1.00
R7939:Cacna1h	UTSW	17	25389477	missense	probably damaging	0.98
R7959:Cacna1h	UTSW	17	25375251	missense	probably benign
R7981:Cacna1h	UTSW	17	25392276	missense	probably damaging	1.00
V1662:Cacna1h	UTSW	17	25377309	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- ACATGTTGAGCACGAAGAAGCTGAC -3'
(R):5'- TACTGCGAGGGTACAGATACCAGG -3'

Sequencing Primer
(F):5'- CAGCATCCAGGGGTTGTG -3'
(R):5'- TGAGGCGCAAATACAACTTTGAC -3'

Posted On

2014-05-09