Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02991:Cacna1h'

452948

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02991 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

25593259-25652757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25610286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 740 (R740L)

Ref Sequence

ENSEMBL: ENSMUSP00000125541 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078496
AA Change: R740L

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: R740L

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: R634L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: R634L

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: R740L

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: R740L

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: ENSMUST00000161454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162820

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

95% (73/77)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Adam23	T	C	1: 63,586,978 (GRCm39)		probably null	Het
Aptx	C	A	4: 40,686,687 (GRCm39)	G199C	probably damaging	Het
Asap2	T	C	12: 21,299,294 (GRCm39)		probably benign	Het
Atp11b	A	G	3: 35,881,140 (GRCm39)	T566A	probably benign	Het
Bcas3	C	T	11: 85,348,713 (GRCm39)	Q202*	probably null	Het
Casp8	T	A	1: 58,866,438 (GRCm39)	N146K	probably benign	Het
Ccdc63	T	C	5: 122,246,275 (GRCm39)	M549V	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh20	T	C	1: 104,861,972 (GRCm39)	S51P	probably benign	Het
Chd7	T	C	4: 8,828,398 (GRCm39)	M1113T	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	ACC	AC	1: 139,164,822 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cxcl11	C	T	5: 92,509,169 (GRCm39)	R28H	probably damaging	Het
Defb40	C	T	8: 19,025,119 (GRCm39)	C29Y	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fen1	A	T	19: 10,178,026 (GRCm39)	D139E	probably benign	Het
Frem3	A	G	8: 81,395,511 (GRCm39)	E1846G	probably damaging	Het
Gria2	T	A	3: 80,615,116 (GRCm39)	K455*	probably null	Het
Hmcn1	A	T	1: 150,614,409 (GRCm39)	N1332K	possibly damaging	Het
Htr5b	C	T	1: 121,455,756 (GRCm39)	V55M	probably benign	Het
Ighv6-5	A	T	12: 114,380,315 (GRCm39)	N86K	probably benign	Het
Il4ra	T	C	7: 125,174,833 (GRCm39)	V347A	possibly damaging	Het
Itih5	A	G	2: 10,256,162 (GRCm39)	E876G	probably benign	Het
Itpkb	A	T	1: 180,155,279 (GRCm39)		probably benign	Het
Lbr	T	C	1: 181,649,117 (GRCm39)	Y334C	probably damaging	Het
Lrfn2	T	C	17: 49,377,732 (GRCm39)	L271P	probably damaging	Het
Lss	T	A	10: 76,379,745 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,132,091 (GRCm39)	V731A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mob3b	T	A	4: 35,083,805 (GRCm39)	Q128L	probably benign	Het
Mog	T	C	17: 37,334,091 (GRCm39)	M1V	probably null	Het
Mrpl4	A	G	9: 20,919,901 (GRCm39)	Y284C	probably damaging	Het
Mtus2	T	G	5: 148,250,310 (GRCm39)	V310G	probably damaging	Het
Mup11	ACAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCA	4: 60,618,275 (GRCm39)		probably benign	Het
Odad4	A	G	11: 100,444,698 (GRCm39)	S285G	probably benign	Het
Or10g9	T	C	9: 39,911,698 (GRCm39)	Y275C	probably damaging	Het
Or8g55	T	A	9: 39,785,362 (GRCm39)	S264T	probably benign	Het
Orc3	T	G	4: 34,593,083 (GRCm39)	Q328P	probably damaging	Het
Otulinl	T	C	15: 27,658,388 (GRCm39)	S211G	possibly damaging	Het
Pcdhb20	G	T	18: 37,639,264 (GRCm39)	G597C	probably damaging	Het
Pdxdc1	A	G	16: 13,675,260 (GRCm39)	I334T	probably damaging	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Proz	G	A	8: 13,123,490 (GRCm39)	E254K	probably benign	Het
Psma6	T	C	12: 55,454,357 (GRCm39)		probably benign	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,776,192 (GRCm39)	V1115A	probably damaging	Het
Sfxn5	G	T	6: 85,266,190 (GRCm39)	N102K	possibly damaging	Het
Sgo2a	G	T	1: 58,054,514 (GRCm39)		probably benign	Het
Slc14a2	A	T	18: 78,249,049 (GRCm39)	M1K	probably null	Het
Spag5	T	A	11: 78,205,077 (GRCm39)	L621M	probably damaging	Het
Spata31	A	G	13: 65,068,533 (GRCm39)	Y227C	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Supt6	T	C	11: 78,116,179 (GRCm39)	E728G	probably damaging	Het
Sympk	T	A	7: 18,764,502 (GRCm39)	L69Q	probably damaging	Het
Timd4	T	A	11: 46,732,974 (GRCm39)		probably benign	Het
Trh	G	A	6: 92,220,719 (GRCm39)	R48W	probably damaging	Het
Trip12	C	A	1: 84,716,536 (GRCm39)	D383Y	probably damaging	Het
Tspo2	T	A	17: 48,757,014 (GRCm39)	I23F	possibly damaging	Het
Tspyl5	A	G	15: 33,686,989 (GRCm39)	S319P	probably damaging	Het
Txlnb	A	G	10: 17,717,201 (GRCm39)	K403E	probably damaging	Het
Vmn2r34	C	A	7: 7,675,720 (GRCm39)	C556F	probably damaging	Het
Vps13c	C	A	9: 67,821,159 (GRCm39)	A1223E	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
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
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'- GCCTCGGTTGAAGTACTTGC -3'
(R):5'- GTGTCTTTGCCTCACAGGACTAG -3'

Sequencing Primer
(F):5'- TGCTGTCTACAATGCGACG -3'
(R):5'- AGCCTCTAGTCACCTGTCAGG -3'

Posted On

2017-01-24