Mutagenetix > Incidental Mutation

Incidental Mutation 'R0964:Cacna1h'

81595

Institutional Source

Beutler Lab

Gene Symbol

Cacna1h

Ensembl Gene

ENSMUSG00000024112

Gene Name

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

Synonyms

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

MMRRC Submission

039093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0964 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

25593259-25652757 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 25597749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024999] [ENSMUST00000078496] [ENSMUST00000159048] [ENSMUST00000159610] [ENSMUST00000160377] [ENSMUST00000160485] [ENSMUST00000162021] [ENSMUST00000160920]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024999

SMART Domains

Protein: ENSMUSP00000024999
Gene: ENSMUSG00000033200

Domain	Start	End	E-Value	Type
Tryp_SPc	29	257	1.06e-87	SMART
transmembrane domain	274	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078496

SMART Domains

Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112

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

SMART Domains

Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112

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 benign
Transcript: ENSMUST00000159610

SMART Domains

Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112

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: ENSMUST00000160377

SMART Domains

Protein: ENSMUSP00000124008
Gene: ENSMUSG00000033200

Domain	Start	End	E-Value	Type
Tryp_SPc	4	154	1.79e-30	SMART
transmembrane domain	171	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160485

SMART Domains

Protein: ENSMUSP00000124721
Gene: ENSMUSG00000033200

Domain	Start	End	E-Value	Type
Tryp_SPc	4	154	1.79e-30	SMART

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

probably benign
Transcript: ENSMUST00000162021

SMART Domains

Protein: ENSMUSP00000125180
Gene: ENSMUSG00000033200

Domain	Start	End	E-Value	Type
Tryp_SPc	5	111	2.35e-4	SMART
transmembrane domain	128	150	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160920

SMART Domains

Protein: ENSMUSP00000123828
Gene: ENSMUSG00000033200

Domain	Start	End	E-Value	Type
Tryp_SPc	1	184	7.18e-44	SMART
transmembrane domain	201	223	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 94.0%

Validation Efficiency

98% (55/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acacb	A	T	5: 114,367,813 (GRCm39)	M1604L	possibly damaging	Het
Acp3	A	G	9: 104,204,174 (GRCm39)	V40A	possibly damaging	Het
Adgrl1	T	C	8: 84,661,041 (GRCm39)		probably benign	Het
Alppl2	C	T	1: 87,015,446 (GRCm39)	V372I	possibly damaging	Het
Apol8	C	T	15: 77,633,811 (GRCm39)	S255N	probably benign	Het
Atp8b4	A	T	2: 126,179,413 (GRCm39)	F973I	probably damaging	Het
Bbs4	A	G	9: 59,230,259 (GRCm39)	*150Q	probably null	Het
Bltp3a	A	T	17: 28,106,152 (GRCm39)	T893S	probably damaging	Het
Ccn1	C	A	3: 145,353,503 (GRCm39)	C353F	probably damaging	Het
Ccser2	C	T	14: 36,630,965 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,741,832 (GRCm39)	E1607G	probably benign	Het
Clca4b	A	G	3: 144,621,337 (GRCm39)	I579T	probably benign	Het
Col20a1	T	A	2: 180,626,278 (GRCm39)		probably benign	Het
Creg2	T	C	1: 39,664,144 (GRCm39)	I205V	probably benign	Het
Ddx24	C	T	12: 103,390,166 (GRCm39)	R275H	probably damaging	Het
Dip2c	G	A	13: 9,618,699 (GRCm39)	A579T	probably benign	Het
Dnah3	T	C	7: 119,551,962 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,892,894 (GRCm39)		probably null	Het
Gckr	T	C	5: 31,484,259 (GRCm39)		probably benign	Het
Gpbp1l1	A	G	4: 116,438,436 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,281,523 (GRCm39)	T1913A	probably benign	Het
Lmo7	T	C	14: 102,158,003 (GRCm39)		probably benign	Het
Meioc	G	A	11: 102,570,857 (GRCm39)	V863I	probably damaging	Het
Myh1	A	G	11: 67,096,751 (GRCm39)	I341V	probably benign	Het
Myh1	A	G	11: 67,112,430 (GRCm39)	D1799G	probably damaging	Het
Myh13	A	G	11: 67,235,828 (GRCm39)	T664A	probably benign	Het
Myo3b	A	C	2: 70,257,193 (GRCm39)	D1269A	probably damaging	Het
Nckap1	A	G	2: 80,378,243 (GRCm39)		probably null	Het
Nr3c2	A	G	8: 77,635,297 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,238,186 (GRCm39)	S249P	probably damaging	Het
Or52z1	C	T	7: 103,436,604 (GRCm39)	M293I	probably benign	Het
Or8k16	A	G	2: 85,520,709 (GRCm39)	N312S	probably benign	Het
Or9a4	T	C	6: 40,549,139 (GRCm39)	V273A	probably benign	Het
Pitpnm3	G	A	11: 71,949,296 (GRCm39)	T675I	probably damaging	Het
Plekhm1	C	A	11: 103,285,908 (GRCm39)	E176*	probably null	Het
Prdm11	C	A	2: 92,819,567 (GRCm39)		probably benign	Het
Prodh2	C	A	7: 30,205,706 (GRCm39)	R218S	probably damaging	Het
Rps15a	T	C	7: 117,714,060 (GRCm39)	D54G	probably benign	Het
Sbno2	G	T	10: 79,920,093 (GRCm39)	T46N	possibly damaging	Het
Sdk2	A	G	11: 113,697,243 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,926,907 (GRCm39)	F567L	probably damaging	Het
Slc36a1	A	G	11: 55,116,780 (GRCm39)		probably benign	Het
Spaca6	A	T	17: 18,058,653 (GRCm39)	E284V	possibly damaging	Het
Srsf3	C	A	17: 29,255,412 (GRCm39)	L66I	probably damaging	Het
Srsf3	T	A	17: 29,255,413 (GRCm39)	L66Q	probably damaging	Het
Syne1	T	C	10: 4,993,652 (GRCm39)	T8363A	possibly damaging	Het
Trmt1	T	A	8: 85,423,481 (GRCm39)	L298Q	probably damaging	Het
Uba6	T	C	5: 86,267,260 (GRCm39)	I923V	possibly damaging	Het
Vmn2r106	G	A	17: 20,487,859 (GRCm39)	H847Y	probably benign	Het
Vmn2r15	T	C	5: 109,445,401 (GRCm39)	T8A	probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb41	T	G	1: 139,366,769 (GRCm39)	F583V	probably damaging	Het
Zfp938	T	A	10: 82,061,253 (GRCm39)	I456F	probably benign	Het

Other mutations in Cacna1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Cacna1h	APN	17	25,600,482 (GRCm39)	missense	probably damaging	1.00
IGL01412:Cacna1h	APN	17	25,610,924 (GRCm39)	missense	probably benign	0.24
IGL01625:Cacna1h	APN	17	25,604,686 (GRCm39)	missense	possibly damaging	0.95
IGL01625:Cacna1h	APN	17	25,602,459 (GRCm39)	missense	probably damaging	0.97
IGL01684:Cacna1h	APN	17	25,607,690 (GRCm39)	missense	probably damaging	1.00
IGL01862:Cacna1h	APN	17	25,602,457 (GRCm39)	missense	probably damaging	1.00
IGL01877:Cacna1h	APN	17	25,607,024 (GRCm39)	missense	probably damaging	1.00
IGL02040:Cacna1h	APN	17	25,616,585 (GRCm39)	missense	probably benign	0.10
IGL02190:Cacna1h	APN	17	25,652,000 (GRCm39)	missense	probably benign
IGL02686:Cacna1h	APN	17	25,604,723 (GRCm39)	missense	possibly damaging	0.80
IGL02883:Cacna1h	APN	17	25,599,506 (GRCm39)	missense	probably damaging	1.00
IGL02945:Cacna1h	APN	17	25,607,033 (GRCm39)	missense	probably damaging	1.00
IGL03025:Cacna1h	APN	17	25,651,868 (GRCm39)	nonsense	probably null
IGL03095:Cacna1h	APN	17	25,602,752 (GRCm39)	unclassified	probably benign
IGL03207:Cacna1h	APN	17	25,610,307 (GRCm39)	missense	probably damaging	1.00
IGL02991:Cacna1h	UTSW	17	25,610,286 (GRCm39)	missense	possibly damaging	0.56
IGL03097:Cacna1h	UTSW	17	25,610,118 (GRCm39)	missense	probably damaging	1.00
R0010:Cacna1h	UTSW	17	25,599,818 (GRCm39)	missense	probably damaging	1.00
R0194:Cacna1h	UTSW	17	25,599,898 (GRCm39)	unclassified	probably benign
R0361:Cacna1h	UTSW	17	25,608,396 (GRCm39)	missense	probably damaging	1.00
R0501:Cacna1h	UTSW	17	25,607,641 (GRCm39)	missense	probably damaging	1.00
R0558:Cacna1h	UTSW	17	25,600,524 (GRCm39)	missense	probably damaging	1.00
R0588:Cacna1h	UTSW	17	25,606,538 (GRCm39)	missense	probably damaging	1.00
R0626:Cacna1h	UTSW	17	25,612,520 (GRCm39)	missense	possibly damaging	0.92
R0811:Cacna1h	UTSW	17	25,607,602 (GRCm39)	missense	probably damaging	1.00
R0812:Cacna1h	UTSW	17	25,607,602 (GRCm39)	missense	probably damaging	1.00
R1351:Cacna1h	UTSW	17	25,610,925 (GRCm39)	missense	probably benign	0.14
R1457:Cacna1h	UTSW	17	25,616,594 (GRCm39)	missense	probably damaging	1.00
R1521:Cacna1h	UTSW	17	25,616,328 (GRCm39)	missense	possibly damaging	0.57
R1564:Cacna1h	UTSW	17	25,596,835 (GRCm39)	nonsense	probably null
R1611:Cacna1h	UTSW	17	25,600,445 (GRCm39)	missense	probably damaging	1.00
R1669:Cacna1h	UTSW	17	25,602,445 (GRCm39)	missense	probably damaging	1.00
R1835:Cacna1h	UTSW	17	25,611,050 (GRCm39)	missense	probably benign	0.01
R1858:Cacna1h	UTSW	17	25,599,781 (GRCm39)	missense	probably damaging	1.00
R1887:Cacna1h	UTSW	17	25,595,861 (GRCm39)	missense	probably benign	0.01
R2039:Cacna1h	UTSW	17	25,610,819 (GRCm39)	missense	probably benign	0.03
R2091:Cacna1h	UTSW	17	25,651,850 (GRCm39)	missense	possibly damaging	0.95
R2133:Cacna1h	UTSW	17	25,602,502 (GRCm39)	missense	probably damaging	1.00
R2203:Cacna1h	UTSW	17	25,599,234 (GRCm39)	missense	probably damaging	1.00
R2205:Cacna1h	UTSW	17	25,599,234 (GRCm39)	missense	probably damaging	1.00
R2206:Cacna1h	UTSW	17	25,603,987 (GRCm39)	missense	probably benign	0.10
R2207:Cacna1h	UTSW	17	25,603,987 (GRCm39)	missense	probably benign	0.10
R2224:Cacna1h	UTSW	17	25,604,917 (GRCm39)	missense	probably benign	0.03
R2226:Cacna1h	UTSW	17	25,604,917 (GRCm39)	missense	probably benign	0.03
R2261:Cacna1h	UTSW	17	25,652,139 (GRCm39)	missense	possibly damaging	0.91
R2361:Cacna1h	UTSW	17	25,602,986 (GRCm39)	missense	probably damaging	1.00
R2917:Cacna1h	UTSW	17	25,614,426 (GRCm39)	missense	probably damaging	0.97
R3031:Cacna1h	UTSW	17	25,652,108 (GRCm39)	missense	probably damaging	0.99
R3856:Cacna1h	UTSW	17	25,611,427 (GRCm39)	missense	probably damaging	1.00
R4230:Cacna1h	UTSW	17	25,606,837 (GRCm39)	missense	probably damaging	1.00
R4408:Cacna1h	UTSW	17	25,599,601 (GRCm39)	missense	probably damaging	1.00
R4687:Cacna1h	UTSW	17	25,612,884 (GRCm39)	missense	possibly damaging	0.47
R4887:Cacna1h	UTSW	17	25,596,261 (GRCm39)	missense	possibly damaging	0.86
R4895:Cacna1h	UTSW	17	25,608,396 (GRCm39)	missense	probably damaging	0.99
R5067:Cacna1h	UTSW	17	25,616,782 (GRCm39)	missense	probably damaging	1.00
R5077:Cacna1h	UTSW	17	25,594,224 (GRCm39)	missense	probably benign	0.02
R5148:Cacna1h	UTSW	17	25,606,519 (GRCm39)	missense	probably damaging	1.00
R5336:Cacna1h	UTSW	17	25,611,205 (GRCm39)	missense	probably damaging	0.99
R5450:Cacna1h	UTSW	17	25,602,160 (GRCm39)	missense	probably damaging	1.00
R5616:Cacna1h	UTSW	17	25,596,641 (GRCm39)	missense	probably damaging	1.00
R5738:Cacna1h	UTSW	17	25,606,023 (GRCm39)	missense	probably damaging	0.99
R5883:Cacna1h	UTSW	17	25,595,896 (GRCm39)	missense	probably benign	0.00
R5954:Cacna1h	UTSW	17	25,602,175 (GRCm39)	missense	probably damaging	1.00
R5961:Cacna1h	UTSW	17	25,596,246 (GRCm39)	missense	probably benign	0.01
R6110:Cacna1h	UTSW	17	25,610,250 (GRCm39)	missense	probably benign	0.10
R6125:Cacna1h	UTSW	17	25,604,668 (GRCm39)	missense	probably benign	0.00
R6189:Cacna1h	UTSW	17	25,616,818 (GRCm39)	missense	probably damaging	1.00
R6216:Cacna1h	UTSW	17	25,597,793 (GRCm39)	missense	probably damaging	1.00
R6259:Cacna1h	UTSW	17	25,616,630 (GRCm39)	critical splice acceptor site	probably null
R6296:Cacna1h	UTSW	17	25,602,053 (GRCm39)	missense	probably damaging	1.00
R6394:Cacna1h	UTSW	17	25,606,455 (GRCm39)	missense	probably benign	0.32
R6695:Cacna1h	UTSW	17	25,612,714 (GRCm39)	missense	probably damaging	1.00
R6746:Cacna1h	UTSW	17	25,600,524 (GRCm39)	missense	probably damaging	1.00
R6914:Cacna1h	UTSW	17	25,604,013 (GRCm39)	missense	probably benign
R6942:Cacna1h	UTSW	17	25,604,013 (GRCm39)	missense	probably benign
R6955:Cacna1h	UTSW	17	25,607,030 (GRCm39)	missense	probably damaging	1.00
R7041:Cacna1h	UTSW	17	25,612,977 (GRCm39)	missense	probably damaging	0.98
R7120:Cacna1h	UTSW	17	25,610,481 (GRCm39)	missense	probably benign	0.31
R7125:Cacna1h	UTSW	17	25,602,510 (GRCm39)	missense	probably damaging	0.99
R7182:Cacna1h	UTSW	17	25,596,629 (GRCm39)	missense	probably damaging	1.00
R7270:Cacna1h	UTSW	17	25,603,739 (GRCm39)	missense	probably damaging	1.00
R7274:Cacna1h	UTSW	17	25,597,811 (GRCm39)	missense	probably damaging	1.00
R7319:Cacna1h	UTSW	17	25,608,435 (GRCm39)	missense	possibly damaging	0.94
R7406:Cacna1h	UTSW	17	25,604,600 (GRCm39)	missense	possibly damaging	0.56
R7634:Cacna1h	UTSW	17	25,611,083 (GRCm39)	missense	possibly damaging	0.87
R7684:Cacna1h	UTSW	17	25,608,346 (GRCm39)	missense	probably damaging	0.99
R7769:Cacna1h	UTSW	17	25,604,779 (GRCm39)	missense	probably damaging	1.00
R7856:Cacna1h	UTSW	17	25,608,451 (GRCm39)	missense	probably damaging	0.98
R7876:Cacna1h	UTSW	17	25,594,225 (GRCm39)	missense	probably benign
R7898:Cacna1h	UTSW	17	25,611,250 (GRCm39)	missense	probably damaging	1.00
R8038:Cacna1h	UTSW	17	25,594,865 (GRCm39)	missense	probably damaging	0.97
R8042:Cacna1h	UTSW	17	25,611,445 (GRCm39)	nonsense	probably null
R8139:Cacna1h	UTSW	17	25,602,697 (GRCm39)	missense	probably damaging	1.00
R8391:Cacna1h	UTSW	17	25,596,204 (GRCm39)	missense	probably benign	0.00
R8795:Cacna1h	UTSW	17	25,612,538 (GRCm39)	missense	probably damaging	1.00
R9227:Cacna1h	UTSW	17	25,599,856 (GRCm39)	missense	probably damaging	1.00
R9230:Cacna1h	UTSW	17	25,599,856 (GRCm39)	missense	probably damaging	1.00
R9236:Cacna1h	UTSW	17	25,600,424 (GRCm39)	missense	probably damaging	1.00
R9360:Cacna1h	UTSW	17	25,594,336 (GRCm39)	missense	probably benign	0.00
R9476:Cacna1h	UTSW	17	25,611,524 (GRCm39)	missense	probably damaging	1.00
R9567:Cacna1h	UTSW	17	25,612,487 (GRCm39)	missense	probably damaging	1.00
R9696:Cacna1h	UTSW	17	25,602,215 (GRCm39)	missense	possibly damaging	0.90
V1662:Cacna1h	UTSW	17	25,596,283 (GRCm39)	missense	possibly damaging	0.68
Z1176:Cacna1h	UTSW	17	25,610,224 (GRCm39)	missense	probably benign
Z1177:Cacna1h	UTSW	17	25,612,558 (GRCm39)	missense	probably benign	0.15
Z1177:Cacna1h	UTSW	17	25,610,352 (GRCm39)	missense	probably damaging	0.99
Z1177:Cacna1h	UTSW	17	25,594,866 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGATGTGGGAAATGTGTCCCTGAG -3'
(R):5'- ACAGACAGAGTATGCCCTGAGAACC -3'

Sequencing Primer
(F):5'- GAGTGGACATGTCTGTGTACAC -3'
(R):5'- cgggttgggtctgggag -3'

Posted On

2013-11-08