Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Cacna1h'

429308

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

043015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25593259-25652757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25602160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1454 (M1454K)

Ref Sequence

ENSEMBL: ENSMUSP00000123741 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078496
AA Change: M1560K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: M1560K

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: M1454K

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

SMART Domains

Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: M1454K

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: M1560K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: M1560K

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

0.9043

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Arhgef4	T	G	1: 34,846,405 (GRCm39)		probably benign	Het
Atg14	T	C	14: 47,788,921 (GRCm39)	N144S	probably benign	Het
Catsperb	A	T	12: 101,412,327 (GRCm39)	H138L	possibly damaging	Het
Cd200r2	T	A	16: 44,729,934 (GRCm39)	D159E	probably benign	Het
Cd79a	G	T	7: 24,598,687 (GRCm39)	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,712,133 (GRCm39)	H38R	possibly damaging	Het
Cers1	T	C	8: 70,770,947 (GRCm39)	L119P	probably damaging	Het
Ces1f	C	A	8: 93,992,423 (GRCm39)	V343L	probably benign	Het
Ces3a	G	A	8: 105,784,550 (GRCm39)	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,175,079 (GRCm39)	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,228,113 (GRCm39)	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,747,860 (GRCm39)	T523A	probably benign	Het
Ddx31	T	C	2: 28,776,981 (GRCm39)	S567P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsg1b	A	C	18: 20,542,121 (GRCm39)	H876P	probably damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Eno4	T	C	19: 58,948,679 (GRCm39)	F393S	possibly damaging	Het
Eral1	C	T	11: 77,969,183 (GRCm39)	D106N	probably benign	Het
Esp18	G	T	17: 39,719,070 (GRCm39)	R23M	probably benign	Het
Fam184b	C	T	5: 45,697,143 (GRCm39)	V674I	probably benign	Het
Fbxw13	A	C	9: 109,013,225 (GRCm39)	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,254,991 (GRCm39)	V130A	probably damaging	Het
Hc	T	C	2: 34,903,050 (GRCm39)	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,294,126 (GRCm39)	S6T	unknown	Het
Ikzf3	C	T	11: 98,357,912 (GRCm39)	R475H	probably damaging	Het
Itprid1	T	A	6: 55,945,796 (GRCm39)		probably null	Het
Kcmf1	A	T	6: 72,819,913 (GRCm39)	L311*	probably null	Het
Kmt2d	C	A	15: 98,752,967 (GRCm39)	E184D	probably damaging	Het
Lrguk	A	T	6: 34,047,996 (GRCm39)	I314F	probably damaging	Het
Maml2	A	C	9: 13,617,763 (GRCm39)	S370R	probably damaging	Het
Mroh1	C	A	15: 76,316,547 (GRCm39)		probably benign	Het
Mx1	A	T	16: 97,255,347 (GRCm39)	Y235*	probably null	Het
Or4x6	A	G	2: 89,949,013 (GRCm39)	*310Q	probably null	Het
Pamr1	T	G	2: 102,469,662 (GRCm39)	Y403D	probably damaging	Het
Panx2	A	G	15: 88,953,162 (GRCm39)	E551G	possibly damaging	Het
Patl2	A	G	2: 121,955,762 (GRCm39)	V258A	probably benign	Het
Ppm1m	A	G	9: 106,074,041 (GRCm39)	F255L	probably benign	Het
Prpf40a	G	T	2: 53,046,938 (GRCm39)	T266N	possibly damaging	Het
Psg18	T	A	7: 18,087,350 (GRCm39)	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,543,583 (GRCm39)		noncoding transcript	Het
Rps6kb1	A	T	11: 86,423,663 (GRCm39)	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sardh	G	T	2: 27,129,710 (GRCm39)	T245K	possibly damaging	Het
Shprh	T	G	10: 11,088,074 (GRCm39)	I1619S	possibly damaging	Het
Skint1	G	A	4: 111,882,729 (GRCm39)	V258I	probably benign	Het
Slc27a5	T	C	7: 12,728,869 (GRCm39)	D331G	probably benign	Het
Slc29a2	A	G	19: 5,079,303 (GRCm39)	I309V	probably benign	Het
Slc30a5	C	T	13: 100,957,680 (GRCm39)	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,529,300 (GRCm39)	A531D	probably damaging	Het
Slc6a16	C	T	7: 44,910,672 (GRCm39)	T399I	probably benign	Het
Slitrk6	T	A	14: 110,987,529 (GRCm39)	H726L	probably benign	Het
Snx2	A	G	18: 53,343,784 (GRCm39)	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,578,217 (GRCm39)	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Tcstv7a	A	T	13: 120,289,899 (GRCm39)	V99E	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Vmn1r47	T	C	6: 89,999,195 (GRCm39)	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,490,376 (GRCm39)	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,664,611 (GRCm39)	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,034,011 (GRCm39)	T504A	probably benign	Het
Wdr75	C	A	1: 45,851,324 (GRCm39)	A300E	probably benign	Het
Yars1	A	G	4: 129,091,039 (GRCm39)	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,274,771 (GRCm39)	F35L	probably damaging	Het
Zfp366	A	G	13: 99,366,093 (GRCm39)	Y418C	probably damaging	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
R0964:Cacna1h	UTSW	17	25,597,749 (GRCm39)	unclassified	probably benign
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
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'- ATCCTGTTGCGACAAGGCAC -3'
(R):5'- AGAATCTCTGACTGTCATGGTC -3'

Sequencing Primer
(F):5'- ATGCACGGTGGCCACATG -3'
(R):5'- GGTCCTCCAGGCCATTCC -3'

Posted On

2016-09-06