Mutagenetix > Incidental Mutation

Incidental Mutation 'R6914:Cacna1h'

539256

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

045035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6914 (G1)

Quality Score

185.009

Status

Validated

Chromosome

Chromosomal Location

25593259-25652757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25604013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1273 (A1273E)

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: A1273E

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

SMART Domains

Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: A1273E

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: A1167E

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

SMART Domains

Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: A1167E

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: A1273E

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

SMART Domains

Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: A1273E

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,061,298 (GRCm39)	K17*	probably null	Het
Abca6	T	C	11: 110,081,064 (GRCm39)	I1183V	probably benign	Het
Adap2	A	G	11: 80,045,891 (GRCm39)	D57G	probably benign	Het
Atmin	G	T	8: 117,683,452 (GRCm39)	V371F	probably benign	Het
Cblb	G	A	16: 51,867,793 (GRCm39)	E134K	probably damaging	Het
Ccdc158	A	G	5: 92,809,929 (GRCm39)	V193A	probably benign	Het
Cnot9	T	A	1: 74,558,154 (GRCm39)	V100E	probably damaging	Het
Cog2	T	A	8: 125,271,875 (GRCm39)	V463D	probably benign	Het
Cracd	A	T	5: 77,004,854 (GRCm39)	Q405L	unknown	Het
Crybg3	C	T	16: 59,360,183 (GRCm39)	R2500H	possibly damaging	Het
Csmd3	C	A	15: 47,874,534 (GRCm39)	R687S	possibly damaging	Het
Derl3	A	G	10: 75,730,050 (GRCm39)		probably null	Het
Dipk1c	A	C	18: 84,748,549 (GRCm39)	Y49S	possibly damaging	Het
Dlc1	T	C	8: 37,405,364 (GRCm39)	K142E	probably benign	Het
Dnai1	T	G	4: 41,625,176 (GRCm39)	M380R	probably benign	Het
Gas7	A	T	11: 67,550,977 (GRCm39)		probably null	Het
Gpt	C	A	15: 76,581,792 (GRCm39)	Q138K	probably benign	Het
Greb1	T	A	12: 16,757,903 (GRCm39)	E748V	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Hecw1	A	C	13: 14,491,423 (GRCm39)	L523R	probably damaging	Het
Hhatl	G	A	9: 121,617,246 (GRCm39)	A329V	probably benign	Het
Homer3	C	T	8: 70,744,201 (GRCm39)	T276I	probably benign	Het
Igdcc4	G	A	9: 65,027,550 (GRCm39)	S204N	probably benign	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Mccc2	C	A	13: 100,126,858 (GRCm39)	D137Y	probably damaging	Het
Nup42	T	A	5: 24,386,082 (GRCm39)	S205T	probably damaging	Het
Pde8b	T	A	13: 95,223,352 (GRCm39)	M301L	probably benign	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pom121	A	T	5: 135,407,011 (GRCm39)	F1175I	probably damaging	Het
Prom2	T	G	2: 127,372,295 (GRCm39)	I723L	possibly damaging	Het
Pth1r	C	T	9: 110,557,084 (GRCm39)		probably null	Het
Samd8	T	C	14: 21,825,221 (GRCm39)	I59T	possibly damaging	Het
Scgb2b18	A	G	7: 32,871,564 (GRCm39)	V85A	possibly damaging	Het
Sema6c	G	T	3: 95,080,519 (GRCm39)	V906L	probably benign	Het
Sipa1l3	T	C	7: 29,085,516 (GRCm39)	T694A	probably damaging	Het
Slc26a2	A	C	18: 61,332,351 (GRCm39)	I360S	probably damaging	Het
Slc8a1	A	G	17: 81,715,549 (GRCm39)	L828P	probably damaging	Het
Spry1	T	A	3: 37,697,193 (GRCm39)	D145E	probably benign	Het
Stat6	A	T	10: 127,487,131 (GRCm39)	N213Y	probably damaging	Het
Tbx20	T	C	9: 24,636,779 (GRCm39)	H436R	probably benign	Het
Tle2	T	C	10: 81,422,190 (GRCm39)	Y411H	probably damaging	Het
Tmem45a	T	C	16: 56,646,145 (GRCm39)	N25S	probably benign	Het
Trip11	T	C	12: 101,812,879 (GRCm39)	N1485S	probably benign	Het
Trrap	T	A	5: 144,720,853 (GRCm39)	I230N	possibly damaging	Het
Vezt	A	T	10: 93,806,313 (GRCm39)	H699Q	probably benign	Het
Vmn1r43	T	A	6: 89,847,319 (GRCm39)	I56F	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
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
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'- TTCATGTTGCCTGGGTCACC -3'
(R):5'- AGTCAACACTTAGATTCCTGTGG -3'

Sequencing Primer
(F):5'- TCACCCCAGTGCTTGGC -3'
(R):5'- CTCCCATTGCTCAGATGGAG -3'

Posted On

2018-11-06