Mutagenetix > Incidental Mutations

Incidental Mutation 'R2224:Cacna1h'

241578

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

040225-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2224 (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 25385943 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1132 (N1132S)

Ref Sequence

ENSEMBL: ENSMUSP00000125541 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000078496
AA Change: N1132S

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

SMART Domains

Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: N1132S

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: N1026S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: N1026S

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

probably benign
Transcript: ENSMUST00000159610
AA Change: N1132S

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

SMART Domains

Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: N1132S

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

noncoding transcript
Transcript: ENSMUST00000162820

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	G	16: 14,472,068	L1416R	probably damaging	Het
Aen	C	A	7: 78,902,451	T15K	probably benign	Het
Ahnak	G	A	19: 9,012,991		probably benign	Het
Ar	T	A	X: 98,151,331	M517K	probably benign	Het
Arsb	T	A	13: 93,794,171	F216I	probably damaging	Het
Atg9b	A	G	5: 24,386,395	V735A	possibly damaging	Het
BC051142	C	A	17: 34,448,763		probably null	Het
Brinp3	C	T	1: 146,901,920	Q702*	probably null	Het
Btbd9	C	A	17: 30,527,346	A169S	probably damaging	Het
Ccdc33	A	G	9: 58,082,022	S123P	probably damaging	Het
Cep250	A	C	2: 155,991,817	E1886D	possibly damaging	Het
Chd9	A	C	8: 91,011,285	H1515P	probably benign	Het
Cyp2c68	A	G	19: 39,735,582	C213R	probably benign	Het
Ddx41	G	A	13: 55,531,401	T544I	probably damaging	Het
Dgkk	T	A	X: 6,875,248	D102E	probably damaging	Het
Eea1	T	A	10: 96,020,012	V637D	probably damaging	Het
Emcn	T	C	3: 137,404,017	I140T	possibly damaging	Het
Exo1	A	G	1: 175,886,688		probably null	Het
Fbxo21	T	G	5: 118,008,123	Y597D	probably damaging	Het
Fbxw20	G	C	9: 109,233,582	Q59E	possibly damaging	Het
Fpr3	T	A	17: 17,971,193	V242D	probably damaging	Het
Fyb	A	G	15: 6,652,383	Y737C	probably damaging	Het
Gm17661	GG	GGG	2: 90,917,708		noncoding transcript	Het
Gm4985	T	A	X: 23,958,934	M1L	probably null	Het
Hdac9	C	T	12: 34,407,802	V251I	probably benign	Het
Hoxa10	T	C	6: 52,232,636	E52G	probably damaging	Het
Il17f	A	G	1: 20,779,375	V55A	probably damaging	Het
Inpp1	T	A	1: 52,790,131	E243V	probably benign	Het
Leap2	A	G	11: 53,422,807	L46P	probably damaging	Het
Map4k3	A	T	17: 80,630,454	D339E	probably benign	Het
Met	A	G	6: 17,563,722		probably null	Het
Mgam	G	T	6: 40,764,274		probably null	Het
Mrgpra1	A	G	7: 47,335,106	V275A	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,860	Q70L	probably benign	Het
Mtus1	C	T	8: 41,082,775	V635M	probably damaging	Het
Mup18	G	T	4: 61,671,891	F133L	possibly damaging	Het
Naalad2	A	T	9: 18,376,533	V267E	possibly damaging	Het
Nin	A	T	12: 70,061,230	I196N	probably damaging	Het
Nkpd1	A	T	7: 19,519,820	Y37F	probably benign	Het
Odc1	A	G	12: 17,547,335	I13V	probably benign	Het
Olfr1024	T	A	2: 85,904,755	I100F	probably benign	Het
Olfr1200	A	T	2: 88,767,586	M243K	possibly damaging	Het
Olfr1377	T	C	11: 50,985,232	F177S	probably damaging	Het
Pard3	A	G	8: 127,359,776	I286V	probably damaging	Het
Pcx	T	C	19: 4,617,998	I516T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074	R1081L	probably benign	Het
Prpf40b	C	T	15: 99,303,291		probably benign	Het
Rnmt	C	T	18: 68,305,783		probably benign	Het
Sfxn1	A	G	13: 54,085,517	T20A	possibly damaging	Het
Sirt2	A	G	7: 28,772,212		probably null	Het
Spata31d1a	T	A	13: 59,703,715	I200L	probably benign	Het
Spin2g	A	T	X: 34,237,275	I171N	possibly damaging	Het
Tex45	A	G	8: 3,479,249	T245A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Uqcrc2	T	A	7: 120,641,714	V73E	probably damaging	Het
Vmn2r100	A	G	17: 19,522,372	K336R	probably benign	Het
Vmn2r108	A	T	17: 20,481,033	Y68*	probably null	Het
Zbtb4	C	T	11: 69,776,358	T163I	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
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
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'- GTTGCAGTCACGGAACTTG -3'
(R):5'- TCCAGCAAGTATTTCACAGATGC -3'

Sequencing Primer
(F):5'- ACAGGTCCATTGTGCTGC -3'
(R):5'- CCCTCGATAGCAGTAATATCTGGG -3'

Posted On

2014-10-15