Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Cacna1h'

167052

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

040870-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25374285-25433783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25397354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 184 (M184V)

Ref Sequence

ENSEMBL: ENSMUSP00000125541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078496] [ENSMUST00000159048] [ENSMUST00000159610] [ENSMUST00000159623]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078496
AA Change: M184V

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: M184V

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 benign
Transcript: ENSMUST00000159048
AA Change: M78V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: M78V

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

possibly damaging
Transcript: ENSMUST00000159610
AA Change: M184V

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: M184V

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: ENSMUST00000159623

SMART Domains

Protein: ENSMUSP00000125664
Gene: ENSMUSG00000024112

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161454

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

Validation Efficiency

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 111,987,235	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,430,552	V360A	probably benign	Het
Ahnak	G	A	19: 9,004,728	M1125I	probably benign	Het
Akap12	T	C	10: 4,354,804	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,515,438	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,027,673	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,779,591	N516T	probably damaging	Het
Cacnb2	G	T	2: 14,614,352	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867	E96G	probably damaging	Het
Ccdc78	G	T	17: 25,788,781	R264L	probably damaging	Het
Cdh4	G	A	2: 179,797,558	R166H	probably damaging	Het
Cog7	C	T	7: 121,930,574	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,257,383	V115A	probably benign	Het
Crybg1	A	G	10: 43,998,416	S899P	probably damaging	Het
Ctdnep1	T	A	11: 69,988,635	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,959,842	K780E	probably benign	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,618,065	Y91*	probably null	Het
Dcdc5	T	C	2: 106,351,669		noncoding transcript	Het
Dppa1	T	A	11: 46,610,473	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,432,000	T241S	probably benign	Het
Eya1	G	T	1: 14,274,550	Q86K	probably damaging	Het
Fam71a	T	A	1: 191,164,022	R141S	probably benign	Het
Fancm	A	T	12: 65,121,704	M1614L	probably benign	Het
Fcgbp	C	T	7: 28,075,160	T53I	probably benign	Het
Fpr3	T	A	17: 17,971,015	W183R	probably damaging	Het
Galnt13	G	A	2: 54,854,645	V119I	probably benign	Het
Gcfc2	T	C	6: 81,923,812	S36P	probably benign	Het
Gdap2	T	A	3: 100,194,615	D412E	possibly damaging	Het
Gm10184	T	A	17: 89,910,306	N4I	possibly damaging	Het
Gm12258	T	C	11: 58,859,555	C41R	probably damaging	Het
Grrp1	T	C	4: 134,251,350	*272W	probably null	Het
Hipk1	T	G	3: 103,777,782	E172D	probably benign	Het
Hmgcs1	T	G	13: 119,703,591	L326R	probably benign	Het
Hs6st1	C	A	1: 36,068,886	R77S	probably damaging	Het
Ifit3	A	T	19: 34,587,173	N40Y	probably damaging	Het
Il1a	T	A	2: 129,304,741	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,957,811	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,106,747	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,351,558	C39Y	probably damaging	Het
Kif22	G	T	7: 127,027,839	A646E	probably damaging	Het
Klhl29	T	C	12: 5,091,307	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,149,110		probably null	Het
Klhl9	A	G	4: 88,721,993	S4P	probably benign	Het
Klk10	A	G	7: 43,782,880	Q79R	probably benign	Het
Klk6	T	C	7: 43,829,275		probably null	Het
Lamc2	C	T	1: 153,166,263	E42K	probably benign	Het
Lingo3	T	C	10: 80,835,721	D125G	probably benign	Het
Map1b	T	C	13: 99,432,739	N1158S	unknown	Het
Masp1	T	A	16: 23,494,637	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,568,926	Y636H	probably benign	Het
Micalcl	T	A	7: 112,381,610	S264T	probably damaging	Het
Mif	A	G	10: 75,859,541	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,595,088		probably null	Het
Mmp23	T	C	4: 155,650,717	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,415,222	S800R	possibly damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,949,205	S67R	probably damaging	Het
Odf2l	T	C	3: 145,149,036	S545P	possibly damaging	Het
Olfr1256	G	A	2: 89,835,172	R258*	probably null	Het
Olfr172	C	T	16: 58,760,853	E108K	probably damaging	Het
Olfr591	T	A	7: 103,173,451	Y62F	probably benign	Het
Olfr845	C	T	9: 19,338,652	S64F	probably benign	Het
Olfr872	A	C	9: 20,260,432	Q197H	possibly damaging	Het
Olfr916	T	G	9: 38,657,718	I225L	probably damaging	Het
Olfr958	A	T	9: 39,550,784	V29E	possibly damaging	Het
Otog	A	T	7: 46,259,264	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,594,191	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,173,607	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 109,007,305	T134P	probably damaging	Het
Phc3	G	T	3: 30,936,575	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,392,319	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,321,558	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,065,500		probably null	Het
Pla2g4a	T	C	1: 149,857,686		probably null	Het
Pola2	A	T	19: 5,948,406	I376N	probably damaging	Het
Pold2	T	A	11: 5,876,833	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,554,886	L281P	probably damaging	Het
Prss46	A	G	9: 110,849,635	I29V	probably benign	Het
Ranbp6	A	T	19: 29,811,446	V502E	probably benign	Het
Rdh14	T	C	12: 10,394,613	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 84,965,858		probably null	Het
Rpp30	A	G	19: 36,094,385	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005	F117L	probably damaging	Het
S100a2	T	A	3: 90,591,292		probably null	Het
Sept12	T	C	16: 4,996,476	K43R	probably damaging	Het
Sh3tc2	A	G	18: 62,008,488	E1080G	probably damaging	Het
Slc26a9	A	G	1: 131,750,677	K27R	probably damaging	Het
Spata17	T	A	1: 187,193,994	K46N	probably damaging	Het
St14	A	C	9: 31,108,215	D103E	probably benign	Het
St6galnac2	T	A	11: 116,684,347	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,036,410	V831A	probably damaging	Het
Tert	A	G	13: 73,642,056	E843G	probably damaging	Het
Tex21	A	G	12: 76,204,270	V464A	probably benign	Het
Tmem232	T	A	17: 65,484,501	H124L	probably damaging	Het
Tmem5	A	G	10: 122,090,479	W243R	probably damaging	Het
Tnfrsf19	T	G	14: 61,005,106	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,515,825	K272*	probably null	Het
Tnxb	T	C	17: 34,711,503	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,242,465	D440A	probably benign	Het
Trpm3	A	G	19: 22,901,221	E504G	probably damaging	Het
Trpm5	C	T	7: 143,082,889	R437H	probably benign	Het
Ttn	T	C	2: 76,741,167	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,798,422	M64L	possibly damaging	Het
Urb1	G	A	16: 90,753,863	R2034W	probably damaging	Het
Usp44	T	A	10: 93,847,186	C452*	probably null	Het
Uvssa	G	A	5: 33,413,934	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,557,078	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,389,268	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,425,919	H183P	probably damaging	Het
Vps13d	G	T	4: 145,105,861	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,025	I179F	probably benign	Het
Zfp112	A	G	7: 24,125,785	N393D	probably damaging	Het
Zfp558	A	G	9: 18,456,563	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,348,775		probably null	Het
Zfp668	C	T	7: 127,867,080	E311K	probably benign	Het
Zfp763	T	A	17: 33,033,302	M1L	probably benign	Het
Zfp947	A	T	17: 22,145,832	M287K	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
R1564:Cacna1h	UTSW	17	25377861	nonsense	probably null
R1611:Cacna1h	UTSW	17	25381471	missense	probably damaging	1.00
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
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
R8038:Cacna1h	UTSW	17	25375891	missense	probably damaging	0.97
R8042:Cacna1h	UTSW	17	25392471	nonsense	probably null
R8139:Cacna1h	UTSW	17	25383723	missense	probably damaging	1.00
R8391:Cacna1h	UTSW	17	25377230	missense	probably benign	0.00
R8795:Cacna1h	UTSW	17	25393564	missense	probably damaging	1.00
R9227:Cacna1h	UTSW	17	25380882	missense	probably damaging	1.00
R9230:Cacna1h	UTSW	17	25380882	missense	probably damaging	1.00
R9236:Cacna1h	UTSW	17	25381450	missense	probably damaging	1.00
R9360:Cacna1h	UTSW	17	25375362	missense	probably benign	0.00
R9476:Cacna1h	UTSW	17	25392550	missense	probably damaging	1.00
R9567:Cacna1h	UTSW	17	25393513	missense	not run
V1662:Cacna1h	UTSW	17	25377309	missense	possibly damaging	0.68
Z1176:Cacna1h	UTSW	17	25391250	missense	probably benign
Z1177:Cacna1h	UTSW	17	25375892	missense	probably damaging	1.00
Z1177:Cacna1h	UTSW	17	25391378	missense	probably damaging	0.99
Z1177:Cacna1h	UTSW	17	25393584	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TCCAGGTGCTATGCAAACGAGGAG -3'
(R):5'- GGACTGTTCGGCCAGAAATGCTAC -3'

Sequencing Primer
(F):5'- CTGGGACTACCCTAGAAAGGC -3'
(R):5'- AACAGGCTGGACTTCTTCATTG -3'

Posted On

2014-04-13