Mutagenetix > Incidental Mutation

Incidental Mutation 'R6746:Cacna1h'

532861

Institutional Source

Beutler Lab

Gene Symbol

Cacna1h

Ensembl Gene

ENSMUSG00000024112

Gene Name

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

Synonyms

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

MMRRC Submission

044863-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6746 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

25374285-25433783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25381550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1606 (A1606T)

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 damaging
Transcript: ENSMUST00000078496
AA Change: A1606T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: A1606T

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: A1500T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: A1500T

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: A1606T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: A1606T

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

0.1646

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,346,221 (GRCm38)	L79*	probably null	Het
Acot3	A	G	12: 84,053,474 (GRCm38)	N8S	probably benign	Het
Adora2a	T	C	10: 75,333,608 (GRCm38)	V302A	probably benign	Het
Anpep	A	C	7: 79,839,185 (GRCm38)		probably null	Het
Arrb1	A	G	7: 99,601,150 (GRCm38)	K392E	probably benign	Het
Atp8a1	A	T	5: 67,751,049 (GRCm38)	N444K	probably benign	Het
Brinp2	C	T	1: 158,266,590 (GRCm38)	G181R	probably benign	Het
Cacna1g	A	T	11: 94,409,427 (GRCm38)	C2184*	probably null	Het
Ccdc155	C	T	7: 45,200,311 (GRCm38)	V63I	probably benign	Het
Ccdc30	T	C	4: 119,356,718 (GRCm38)	T205A	probably benign	Het
Celsr1	A	G	15: 86,031,495 (GRCm38)	I759T	probably damaging	Het
Chaf1a	A	G	17: 56,063,404 (GRCm38)	D623G	possibly damaging	Het
Col6a3	G	T	1: 90,779,045 (GRCm38)	N2115K	unknown	Het
Dync1h1	A	T	12: 110,651,653 (GRCm38)	T3209S	probably damaging	Het
Erich6	T	C	3: 58,616,566 (GRCm38)	D629G	possibly damaging	Het
Fahd1	G	T	17: 24,849,941 (GRCm38)	A54E	probably damaging	Het
Flrt3	C	T	2: 140,660,025 (GRCm38)	R561Q	probably damaging	Het
Gm5415	A	T	1: 32,546,763 (GRCm38)	I22N	probably benign	Het
Grm6	A	T	11: 50,856,963 (GRCm38)	D334V	probably damaging	Het
Helb	A	T	10: 120,105,468 (GRCm38)	D438E	probably damaging	Het
Hmgcs1	T	C	13: 119,695,049 (GRCm38)		probably null	Het
Hnf4g	C	A	3: 3,657,110 (GRCm38)	Y441*	probably null	Het
Hrasls5	A	G	19: 7,613,330 (GRCm38)	D74G	probably benign	Het
Hspa13	A	T	16: 75,765,037 (GRCm38)	N91K	possibly damaging	Het
Ilvbl	T	C	10: 78,577,223 (GRCm38)	I193T	possibly damaging	Het
Itga7	T	C	10: 128,949,472 (GRCm38)	V848A	probably benign	Het
Lpin1	A	G	12: 16,565,528 (GRCm38)	M341T	probably benign	Het
Lypd5	G	T	7: 24,353,106 (GRCm38)		probably null	Het
Mrgprb1	A	C	7: 48,447,897 (GRCm38)	V89G	possibly damaging	Het
Nsun7	T	C	5: 66,283,737 (GRCm38)		probably null	Het
Oasl1	T	A	5: 114,937,183 (GRCm38)	V434E	probably damaging	Het
Olfr1008	T	C	2: 85,689,608 (GRCm38)	Y60H	probably damaging	Het
Olfr319	G	A	11: 58,702,543 (GRCm38)	V281I	probably benign	Het
Olfr837	A	G	9: 19,137,478 (GRCm38)	M162V	probably benign	Het
Otor	T	A	2: 143,080,035 (GRCm38)		probably null	Het
Pik3cg	G	A	12: 32,194,758 (GRCm38)	T899M	probably damaging	Het
Pld2	C	A	11: 70,541,107 (GRCm38)	L52M	probably damaging	Het
Pon3	A	T	6: 5,230,786 (GRCm38)	M247K	possibly damaging	Het
Ppfia2	C	A	10: 106,906,458 (GRCm38)	Y1037*	probably null	Het
Ppm1m	A	T	9: 106,198,152 (GRCm38)	C99*	probably null	Het
Prss44	A	T	9: 110,815,293 (GRCm38)	*145C	probably null	Het
Ptpro	T	A	6: 137,394,823 (GRCm38)	Y613N	probably damaging	Het
Ralgapb	T	G	2: 158,476,136 (GRCm38)	V866G	probably damaging	Het
Rassf6	C	A	5: 90,609,774 (GRCm38)	R109L	possibly damaging	Het
Rbm4b	A	C	19: 4,762,003 (GRCm38)	T147P	probably benign	Het
Rpl7l1	T	C	17: 46,779,396 (GRCm38)	K104R	probably benign	Het
Ryr1	A	T	7: 29,117,404 (GRCm38)	I69N	possibly damaging	Het
Scd1	G	T	19: 44,406,488 (GRCm38)	F99L	probably benign	Het
Spint2	A	T	7: 29,259,423 (GRCm38)	S66T	probably benign	Het
Tarm1	T	A	7: 3,502,462 (GRCm38)	I2F	probably benign	Het
Tenm4	T	C	7: 96,892,860 (GRCm38)	V1860A	probably damaging	Het
Uhrf1bp1l	T	A	10: 89,787,158 (GRCm38)	N298K	probably benign	Het
Usp38	A	G	8: 81,014,291 (GRCm38)	I49T	possibly damaging	Het
Vars2	A	G	17: 35,660,402 (GRCm38)		probably null	Het
Vmn2r27	T	G	6: 124,200,593 (GRCm38)	H484P	possibly damaging	Het
Wdr35	T	A	12: 9,003,982 (GRCm38)		probably null	Het
Zfp937	A	T	2: 150,239,423 (GRCm38)	K458*	probably null	Het

Other mutations in Cacna1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Cacna1h	APN	17	25,381,508 (GRCm38)	missense	probably damaging	1.00
IGL01412:Cacna1h	APN	17	25,391,950 (GRCm38)	missense	probably benign	0.24
IGL01625:Cacna1h	APN	17	25,385,712 (GRCm38)	missense	possibly damaging	0.95
IGL01625:Cacna1h	APN	17	25,383,485 (GRCm38)	missense	probably damaging	0.97
IGL01684:Cacna1h	APN	17	25,388,716 (GRCm38)	missense	probably damaging	1.00
IGL01862:Cacna1h	APN	17	25,383,483 (GRCm38)	missense	probably damaging	1.00
IGL01877:Cacna1h	APN	17	25,388,050 (GRCm38)	missense	probably damaging	1.00
IGL02040:Cacna1h	APN	17	25,397,611 (GRCm38)	missense	probably benign	0.10
IGL02190:Cacna1h	APN	17	25,433,026 (GRCm38)	missense	probably benign
IGL02686:Cacna1h	APN	17	25,385,749 (GRCm38)	missense	possibly damaging	0.80
IGL02883:Cacna1h	APN	17	25,380,532 (GRCm38)	missense	probably damaging	1.00
IGL02945:Cacna1h	APN	17	25,388,059 (GRCm38)	missense	probably damaging	1.00
IGL03025:Cacna1h	APN	17	25,432,894 (GRCm38)	nonsense	probably null
IGL03095:Cacna1h	APN	17	25,383,778 (GRCm38)	unclassified	probably benign
IGL03207:Cacna1h	APN	17	25,391,333 (GRCm38)	missense	probably damaging	1.00
IGL02991:Cacna1h	UTSW	17	25,391,312 (GRCm38)	missense	possibly damaging	0.56
IGL03097:Cacna1h	UTSW	17	25,391,144 (GRCm38)	missense	probably damaging	1.00
R0010:Cacna1h	UTSW	17	25,380,844 (GRCm38)	missense	probably damaging	1.00
R0194:Cacna1h	UTSW	17	25,380,924 (GRCm38)	unclassified	probably benign
R0361:Cacna1h	UTSW	17	25,389,422 (GRCm38)	missense	probably damaging	1.00
R0501:Cacna1h	UTSW	17	25,388,667 (GRCm38)	missense	probably damaging	1.00
R0558:Cacna1h	UTSW	17	25,381,550 (GRCm38)	missense	probably damaging	1.00
R0588:Cacna1h	UTSW	17	25,387,564 (GRCm38)	missense	probably damaging	1.00
R0626:Cacna1h	UTSW	17	25,393,546 (GRCm38)	missense	possibly damaging	0.92
R0811:Cacna1h	UTSW	17	25,388,628 (GRCm38)	missense	probably damaging	1.00
R0812:Cacna1h	UTSW	17	25,388,628 (GRCm38)	missense	probably damaging	1.00
R0964:Cacna1h	UTSW	17	25,378,775 (GRCm38)	unclassified	probably benign
R1351:Cacna1h	UTSW	17	25,391,951 (GRCm38)	missense	probably benign	0.14
R1457:Cacna1h	UTSW	17	25,397,620 (GRCm38)	missense	probably damaging	1.00
R1521:Cacna1h	UTSW	17	25,397,354 (GRCm38)	missense	possibly damaging	0.57
R1564:Cacna1h	UTSW	17	25,377,861 (GRCm38)	nonsense	probably null
R1611:Cacna1h	UTSW	17	25,381,471 (GRCm38)	missense	probably damaging	1.00
R1669:Cacna1h	UTSW	17	25,383,471 (GRCm38)	missense	probably damaging	1.00
R1835:Cacna1h	UTSW	17	25,392,076 (GRCm38)	missense	probably benign	0.01
R1858:Cacna1h	UTSW	17	25,380,807 (GRCm38)	missense	probably damaging	1.00
R1887:Cacna1h	UTSW	17	25,376,887 (GRCm38)	missense	probably benign	0.01
R2039:Cacna1h	UTSW	17	25,391,845 (GRCm38)	missense	probably benign	0.03
R2091:Cacna1h	UTSW	17	25,432,876 (GRCm38)	missense	possibly damaging	0.95
R2133:Cacna1h	UTSW	17	25,383,528 (GRCm38)	missense	probably damaging	1.00
R2203:Cacna1h	UTSW	17	25,380,260 (GRCm38)	missense	probably damaging	1.00
R2205:Cacna1h	UTSW	17	25,380,260 (GRCm38)	missense	probably damaging	1.00
R2206:Cacna1h	UTSW	17	25,385,013 (GRCm38)	missense	probably benign	0.10
R2207:Cacna1h	UTSW	17	25,385,013 (GRCm38)	missense	probably benign	0.10
R2224:Cacna1h	UTSW	17	25,385,943 (GRCm38)	missense	probably benign	0.03
R2226:Cacna1h	UTSW	17	25,385,943 (GRCm38)	missense	probably benign	0.03
R2261:Cacna1h	UTSW	17	25,433,165 (GRCm38)	missense	possibly damaging	0.91
R2361:Cacna1h	UTSW	17	25,384,012 (GRCm38)	missense	probably damaging	1.00
R2917:Cacna1h	UTSW	17	25,395,452 (GRCm38)	missense	probably damaging	0.97
R3031:Cacna1h	UTSW	17	25,433,134 (GRCm38)	missense	probably damaging	0.99
R3856:Cacna1h	UTSW	17	25,392,453 (GRCm38)	missense	probably damaging	1.00
R4230:Cacna1h	UTSW	17	25,387,863 (GRCm38)	missense	probably damaging	1.00
R4408:Cacna1h	UTSW	17	25,380,627 (GRCm38)	missense	probably damaging	1.00
R4687:Cacna1h	UTSW	17	25,393,910 (GRCm38)	missense	possibly damaging	0.47
R4887:Cacna1h	UTSW	17	25,377,287 (GRCm38)	missense	possibly damaging	0.86
R4895:Cacna1h	UTSW	17	25,389,422 (GRCm38)	missense	probably damaging	0.99
R5067:Cacna1h	UTSW	17	25,397,808 (GRCm38)	missense	probably damaging	1.00
R5077:Cacna1h	UTSW	17	25,375,250 (GRCm38)	missense	probably benign	0.02
R5148:Cacna1h	UTSW	17	25,387,545 (GRCm38)	missense	probably damaging	1.00
R5336:Cacna1h	UTSW	17	25,392,231 (GRCm38)	missense	probably damaging	0.99
R5450:Cacna1h	UTSW	17	25,383,186 (GRCm38)	missense	probably damaging	1.00
R5616:Cacna1h	UTSW	17	25,377,667 (GRCm38)	missense	probably damaging	1.00
R5738:Cacna1h	UTSW	17	25,387,049 (GRCm38)	missense	probably damaging	0.99
R5883:Cacna1h	UTSW	17	25,376,922 (GRCm38)	missense	probably benign	0.00
R5954:Cacna1h	UTSW	17	25,383,201 (GRCm38)	missense	probably damaging	1.00
R5961:Cacna1h	UTSW	17	25,377,272 (GRCm38)	missense	probably benign	0.01
R6110:Cacna1h	UTSW	17	25,391,276 (GRCm38)	missense	probably benign	0.10
R6125:Cacna1h	UTSW	17	25,385,694 (GRCm38)	missense	probably benign	0.00
R6189:Cacna1h	UTSW	17	25,397,844 (GRCm38)	missense	probably damaging	1.00
R6216:Cacna1h	UTSW	17	25,378,819 (GRCm38)	missense	probably damaging	1.00
R6259:Cacna1h	UTSW	17	25,397,656 (GRCm38)	critical splice acceptor site	probably null
R6296:Cacna1h	UTSW	17	25,383,079 (GRCm38)	missense	probably damaging	1.00
R6394:Cacna1h	UTSW	17	25,387,481 (GRCm38)	missense	probably benign	0.32
R6695:Cacna1h	UTSW	17	25,393,740 (GRCm38)	missense	probably damaging	1.00
R6914:Cacna1h	UTSW	17	25,385,039 (GRCm38)	missense	probably benign
R6942:Cacna1h	UTSW	17	25,385,039 (GRCm38)	missense	probably benign
R6955:Cacna1h	UTSW	17	25,388,056 (GRCm38)	missense	probably damaging	1.00
R7041:Cacna1h	UTSW	17	25,394,003 (GRCm38)	missense	probably damaging	0.98
R7120:Cacna1h	UTSW	17	25,391,507 (GRCm38)	missense	probably benign	0.31
R7125:Cacna1h	UTSW	17	25,383,536 (GRCm38)	missense	probably damaging	0.99
R7182:Cacna1h	UTSW	17	25,377,655 (GRCm38)	missense	probably damaging	1.00
R7270:Cacna1h	UTSW	17	25,384,765 (GRCm38)	missense	probably damaging	1.00
R7274:Cacna1h	UTSW	17	25,378,837 (GRCm38)	missense	probably damaging	1.00
R7319:Cacna1h	UTSW	17	25,389,461 (GRCm38)	missense	possibly damaging	0.94
R7406:Cacna1h	UTSW	17	25,385,626 (GRCm38)	missense	possibly damaging	0.56
R7634:Cacna1h	UTSW	17	25,392,109 (GRCm38)	missense	possibly damaging	0.87
R7684:Cacna1h	UTSW	17	25,389,372 (GRCm38)	missense	probably damaging	0.99
R7769:Cacna1h	UTSW	17	25,385,805 (GRCm38)	missense	probably damaging	1.00
R7856:Cacna1h	UTSW	17	25,389,477 (GRCm38)	missense	probably damaging	0.98
R7876:Cacna1h	UTSW	17	25,375,251 (GRCm38)	missense	probably benign
R7898:Cacna1h	UTSW	17	25,392,276 (GRCm38)	missense	probably damaging	1.00
R8038:Cacna1h	UTSW	17	25,375,891 (GRCm38)	missense	probably damaging	0.97
R8042:Cacna1h	UTSW	17	25,392,471 (GRCm38)	nonsense	probably null
R8139:Cacna1h	UTSW	17	25,383,723 (GRCm38)	missense	probably damaging	1.00
R8391:Cacna1h	UTSW	17	25,377,230 (GRCm38)	missense	probably benign	0.00
R8795:Cacna1h	UTSW	17	25,393,564 (GRCm38)	missense	probably damaging	1.00
R9227:Cacna1h	UTSW	17	25,380,882 (GRCm38)	missense	probably damaging	1.00
R9230:Cacna1h	UTSW	17	25,380,882 (GRCm38)	missense	probably damaging	1.00
R9236:Cacna1h	UTSW	17	25,381,450 (GRCm38)	missense	probably damaging	1.00
R9360:Cacna1h	UTSW	17	25,375,362 (GRCm38)	missense	probably benign	0.00
R9476:Cacna1h	UTSW	17	25,392,550 (GRCm38)	missense	probably damaging	1.00
R9567:Cacna1h	UTSW	17	25,393,513 (GRCm38)	missense	probably damaging	1.00
R9696:Cacna1h	UTSW	17	25,383,241 (GRCm38)	missense	possibly damaging	0.90
V1662:Cacna1h	UTSW	17	25,377,309 (GRCm38)	missense	possibly damaging	0.68
Z1176:Cacna1h	UTSW	17	25,391,250 (GRCm38)	missense	probably benign
Z1177:Cacna1h	UTSW	17	25,393,584 (GRCm38)	missense	probably benign	0.15
Z1177:Cacna1h	UTSW	17	25,391,378 (GRCm38)	missense	probably damaging	0.99
Z1177:Cacna1h	UTSW	17	25,375,892 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGTAACACCAGCTCCGTG -3'
(R):5'- TCAAAGAAATCTTCTCTCCCCTAGC -3'

Sequencing Primer
(F):5'- ACCAGCTCCGTGTCCCC -3'
(R):5'- AATCTTCTCTCCCCTAGCCTGGG -3'

Posted On

2018-08-29