Mutagenetix > Incidental Mutation

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

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

MMRRC Submission

040225-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25593259-25652757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25604917 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 14,289,932 (GRCm39)	L1416R	probably damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Ahnak	G	A	19: 8,990,355 (GRCm39)		probably benign	Het
Ar	T	A	X: 97,194,937 (GRCm39)	M517K	probably benign	Het
Arsb	T	A	13: 93,930,679 (GRCm39)	F216I	probably damaging	Het
Atg9b	A	G	5: 24,591,393 (GRCm39)	V735A	possibly damaging	Het
Brinp3	C	T	1: 146,777,658 (GRCm39)	Q702*	probably null	Het
Btbd9	C	A	17: 30,746,320 (GRCm39)	A169S	probably damaging	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Cep250	A	C	2: 155,833,737 (GRCm39)	E1886D	possibly damaging	Het
Chd9	A	C	8: 91,737,913 (GRCm39)	H1515P	probably benign	Het
Cyp2c68	A	G	19: 39,724,026 (GRCm39)	C213R	probably benign	Het
Ddx41	G	A	13: 55,679,214 (GRCm39)	T544I	probably damaging	Het
Dgkk	T	A	X: 6,741,487 (GRCm39)	D102E	probably damaging	Het
Eea1	T	A	10: 95,855,874 (GRCm39)	V637D	probably damaging	Het
Emcn	T	C	3: 137,109,778 (GRCm39)	I140T	possibly damaging	Het
Exo1	A	G	1: 175,714,254 (GRCm39)		probably null	Het
Fbxo21	T	G	5: 118,146,188 (GRCm39)	Y597D	probably damaging	Het
Fbxw20	G	C	9: 109,062,650 (GRCm39)	Q59E	possibly damaging	Het
Fpr3	T	A	17: 18,191,455 (GRCm39)	V242D	probably damaging	Het
Fyb1	A	G	15: 6,681,864 (GRCm39)	Y737C	probably damaging	Het
Gm17661	GG	GGG	2: 90,748,052 (GRCm39)		noncoding transcript	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Il17f	A	G	1: 20,849,599 (GRCm39)	V55A	probably damaging	Het
Inpp1	T	A	1: 52,829,290 (GRCm39)	E243V	probably benign	Het
Leap2	A	G	11: 53,313,634 (GRCm39)	L46P	probably damaging	Het
Map4k3	A	T	17: 80,937,883 (GRCm39)	D339E	probably benign	Het
Met	A	G	6: 17,563,721 (GRCm39)		probably null	Het
Mgam	G	T	6: 40,741,208 (GRCm39)		probably null	Het
Mrgpra1	A	G	7: 46,984,854 (GRCm39)	V275A	possibly damaging	Het
Mrgprx2	T	A	7: 48,132,608 (GRCm39)	Q70L	probably benign	Het
Mtus1	C	T	8: 41,535,812 (GRCm39)	V635M	probably damaging	Het
Mup18	G	T	4: 61,590,128 (GRCm39)	F133L	possibly damaging	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Nin	A	T	12: 70,108,004 (GRCm39)	I196N	probably damaging	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Odc1	A	G	12: 17,597,336 (GRCm39)	I13V	probably benign	Het
Or1ad1	T	C	11: 50,876,059 (GRCm39)	F177S	probably damaging	Het
Or4a67	A	T	2: 88,597,930 (GRCm39)	M243K	possibly damaging	Het
Or5m12	T	A	2: 85,735,099 (GRCm39)	I100F	probably benign	Het
Pard3	A	G	8: 128,086,257 (GRCm39)	I286V	probably damaging	Het
Pcx	T	C	19: 4,668,026 (GRCm39)	I516T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074 (GRCm39)	R1081L	probably benign	Het
Prpf40b	C	T	15: 99,201,172 (GRCm39)		probably benign	Het
Rnmt	C	T	18: 68,438,854 (GRCm39)		probably benign	Het
Saxo5	A	G	8: 3,529,249 (GRCm39)	T245A	probably benign	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Sirt2	A	G	7: 28,471,637 (GRCm39)		probably null	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Spin2g	A	T	X: 33,656,599 (GRCm39)	I171N	possibly damaging	Het
Tesl2	T	A	X: 23,825,173 (GRCm39)	M1L	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tsbp1	C	A	17: 34,667,737 (GRCm39)		probably null	Het
Uqcrc2	T	A	7: 120,240,937 (GRCm39)	V73E	probably damaging	Het
Vmn2r100	A	G	17: 19,742,634 (GRCm39)	K336R	probably benign	Het
Vmn2r108	A	T	17: 20,701,295 (GRCm39)	Y68*	probably null	Het
Zbtb4	C	T	11: 69,667,184 (GRCm39)	T163I	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
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
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'- GTTGCAGTCACGGAACTTG -3'
(R):5'- TCCAGCAAGTATTTCACAGATGC -3'

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

Posted On

2014-10-15