Mutagenetix > Incidental Mutation

Incidental Mutation 'R8382:Cacna1i'

646995

Institutional Source

Beutler Lab

Gene Symbol

Cacna1i

Ensembl Gene

ENSMUSG00000022416

Gene Name

calcium channel, voltage-dependent, alpha 1I subunit

Synonyms

MMRRC Submission

067896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80171439-80282480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80261017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1342 (V1342M)

Ref Sequence

ENSEMBL: ENSMUSP00000125063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160424] [ENSMUST00000162155]

AlphaFold

E9Q7P2

Predicted Effect

probably damaging
Transcript: ENSMUST00000160424
AA Change: V1342M

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: V1342M

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	24	40	N/A	INTRINSIC
Pfam:Ion_trans	76	407	1.4e-79	PFAM
low complexity region	464	482	N/A	INTRINSIC
low complexity region	531	554	N/A	INTRINSIC
Pfam:Ion_trans	597	830	7.4e-58	PFAM
low complexity region	870	892	N/A	INTRINSIC
low complexity region	919	940	N/A	INTRINSIC
low complexity region	984	1015	N/A	INTRINSIC
low complexity region	1069	1080	N/A	INTRINSIC
Pfam:Ion_trans	1128	1401	7.8e-65	PFAM
Pfam:Ion_trans	1445	1700	9.4e-58	PFAM
Pfam:PKD_channel	1538	1694	1.4e-10	PFAM
low complexity region	1718	1739	N/A	INTRINSIC
low complexity region	1744	1760	N/A	INTRINSIC
low complexity region	1837	1853	N/A	INTRINSIC
low complexity region	1922	1933	N/A	INTRINSIC
low complexity region	1990	2005	N/A	INTRINSIC
low complexity region	2041	2058	N/A	INTRINSIC
low complexity region	2087	2097	N/A	INTRINSIC
low complexity region	2103	2126	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162155
AA Change: V1342M

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

SMART Domains

Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: V1342M

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	24	40	N/A	INTRINSIC
Pfam:Ion_trans	115	395	1.9e-66	PFAM
low complexity region	464	482	N/A	INTRINSIC
low complexity region	531	554	N/A	INTRINSIC
Pfam:Ion_trans	632	819	2.4e-45	PFAM
low complexity region	870	892	N/A	INTRINSIC
low complexity region	919	940	N/A	INTRINSIC
low complexity region	984	1015	N/A	INTRINSIC
low complexity region	1069	1080	N/A	INTRINSIC
Pfam:Ion_trans	1165	1389	6.2e-55	PFAM
coiled coil region	1394	1426	N/A	INTRINSIC
Pfam:Ion_trans	1480	1688	1.9e-47	PFAM
Pfam:PKD_channel	1538	1694	4.8e-10	PFAM
low complexity region	1718	1739	N/A	INTRINSIC
low complexity region	1744	1760	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

94% (33/35)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,537,645 (GRCm39)	R689G	probably benign	Het
Anapc4	T	A	5: 53,016,277 (GRCm39)		probably null	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Cblif	A	T	19: 11,727,090 (GRCm39)	T100S	probably benign	Het
Ccdc87	A	G	19: 4,890,018 (GRCm39)	D170G	possibly damaging	Het
Cpsf1	A	G	15: 76,485,151 (GRCm39)	V541A	probably benign	Het
Depdc5	C	T	5: 33,085,242 (GRCm39)	T687M	probably benign	Het
Ear6	T	C	14: 52,091,570 (GRCm39)	I39T	probably damaging	Het
Fcgbp	C	T	7: 27,816,762 (GRCm39)	A2408V	probably benign	Het
Frmd4b	G	A	6: 97,282,209 (GRCm39)	T539I	probably benign	Het
Gm19410	T	A	8: 36,276,302 (GRCm39)	V1653D	probably damaging	Het
Jade1	A	G	3: 41,519,369 (GRCm39)		probably null	Het
Kncn	A	G	4: 115,743,947 (GRCm39)	N75S	probably benign	Het
Lig4	C	T	8: 10,022,346 (GRCm39)	G478D	probably damaging	Het
Med24	G	A	11: 98,608,537 (GRCm39)	T205I	unknown	Het
Meiob	A	G	17: 25,046,913 (GRCm39)	E179G	possibly damaging	Het
Nalf1	T	C	8: 9,257,972 (GRCm39)	E392G	probably benign	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Or4a27	A	T	2: 88,559,857 (GRCm39)	F29I	probably damaging	Het
Or8b44	A	T	9: 38,410,588 (GRCm39)	I208F	probably damaging	Het
Pcdh15	T	C	10: 74,479,227 (GRCm39)	V708A	probably benign	Het
Pclo	T	A	5: 14,727,080 (GRCm39)	D1979E	unknown	Het
Plxnd1	A	T	6: 115,949,433 (GRCm39)	H784Q	probably benign	Het
Prim1	A	T	10: 127,856,138 (GRCm39)		probably null	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Slc7a5	A	T	8: 122,612,691 (GRCm39)	I371N	probably damaging	Het
Sp140l2	G	A	1: 85,224,671 (GRCm39)	S288L	possibly damaging	Het
Spata31e3	T	C	13: 50,401,474 (GRCm39)	K284R	possibly damaging	Het
Taf1c	G	T	8: 120,329,789 (GRCm39)	D117E	probably damaging	Het
Tekt5	T	C	16: 10,212,928 (GRCm39)	D119G	probably benign	Het
Top3b	T	C	16: 16,705,867 (GRCm39)	I508T	probably damaging	Het
Uba6	A	G	5: 86,279,196 (GRCm39)	I673T	probably benign	Het
Vmn2r17	G	T	5: 109,576,387 (GRCm39)	M419I	probably benign	Het
Zfr	C	T	15: 12,153,054 (GRCm39)	Q562*	probably null	Het
Zfyve16	A	T	13: 92,650,328 (GRCm39)	D885E	probably benign	Het

Other mutations in Cacna1i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Cacna1i	APN	15	80,266,220 (GRCm39)	missense	probably damaging	1.00
IGL00976:Cacna1i	APN	15	80,239,846 (GRCm39)	missense	probably benign
IGL01338:Cacna1i	APN	15	80,232,581 (GRCm39)	missense	probably damaging	0.99
IGL01589:Cacna1i	APN	15	80,271,960 (GRCm39)	splice site	probably benign
IGL01669:Cacna1i	APN	15	80,275,958 (GRCm39)	missense	probably benign
IGL01807:Cacna1i	APN	15	80,258,348 (GRCm39)	missense	probably damaging	1.00
IGL01911:Cacna1i	APN	15	80,275,933 (GRCm39)	missense	probably benign	0.09
IGL01973:Cacna1i	APN	15	80,266,234 (GRCm39)	missense	probably damaging	1.00
IGL02205:Cacna1i	APN	15	80,257,152 (GRCm39)	missense	probably benign	0.06
IGL02519:Cacna1i	APN	15	80,246,075 (GRCm39)	nonsense	probably null
IGL02648:Cacna1i	APN	15	80,182,839 (GRCm39)	missense	probably damaging	0.96
IGL03033:Cacna1i	APN	15	80,246,440 (GRCm39)	missense	probably damaging	0.98
IGL03214:Cacna1i	APN	15	80,239,917 (GRCm39)	missense	probably benign	0.30
R0067:Cacna1i	UTSW	15	80,265,373 (GRCm39)	missense	probably damaging	1.00
R0067:Cacna1i	UTSW	15	80,265,373 (GRCm39)	missense	probably damaging	1.00
R0295:Cacna1i	UTSW	15	80,240,412 (GRCm39)	missense	probably damaging	1.00
R0345:Cacna1i	UTSW	15	80,256,663 (GRCm39)	missense	probably damaging	0.98
R0415:Cacna1i	UTSW	15	80,253,031 (GRCm39)	splice site	probably benign
R0637:Cacna1i	UTSW	15	80,256,855 (GRCm39)	missense	probably damaging	0.99
R0638:Cacna1i	UTSW	15	80,265,281 (GRCm39)	missense	possibly damaging	0.94
R0840:Cacna1i	UTSW	15	80,243,150 (GRCm39)	missense	possibly damaging	0.85
R1463:Cacna1i	UTSW	15	80,263,255 (GRCm39)	missense	possibly damaging	0.96
R1528:Cacna1i	UTSW	15	80,275,975 (GRCm39)	splice site	probably null
R1563:Cacna1i	UTSW	15	80,274,056 (GRCm39)	splice site	probably benign
R1563:Cacna1i	UTSW	15	80,205,389 (GRCm39)	missense	probably damaging	0.97
R1573:Cacna1i	UTSW	15	80,277,869 (GRCm39)	splice site	probably null
R1654:Cacna1i	UTSW	15	80,273,411 (GRCm39)	missense	probably damaging	1.00
R1754:Cacna1i	UTSW	15	80,255,730 (GRCm39)	missense	probably damaging	0.99
R1794:Cacna1i	UTSW	15	80,273,323 (GRCm39)	missense	probably damaging	1.00
R1824:Cacna1i	UTSW	15	80,260,990 (GRCm39)	missense	possibly damaging	0.64
R1863:Cacna1i	UTSW	15	80,243,132 (GRCm39)	missense	probably damaging	1.00
R1885:Cacna1i	UTSW	15	80,243,145 (GRCm39)	missense	probably damaging	0.99
R1886:Cacna1i	UTSW	15	80,243,145 (GRCm39)	missense	probably damaging	0.99
R1899:Cacna1i	UTSW	15	80,275,843 (GRCm39)	missense	possibly damaging	0.91
R1907:Cacna1i	UTSW	15	80,259,465 (GRCm39)	missense	probably damaging	1.00
R1943:Cacna1i	UTSW	15	80,279,245 (GRCm39)	missense	probably benign
R2162:Cacna1i	UTSW	15	80,240,388 (GRCm39)	missense	probably damaging	1.00
R2888:Cacna1i	UTSW	15	80,258,968 (GRCm39)	missense	probably damaging	1.00
R3701:Cacna1i	UTSW	15	80,265,272 (GRCm39)	splice site	probably benign
R3702:Cacna1i	UTSW	15	80,265,272 (GRCm39)	splice site	probably benign
R3832:Cacna1i	UTSW	15	80,240,388 (GRCm39)	missense	probably damaging	1.00
R4852:Cacna1i	UTSW	15	80,272,680 (GRCm39)	missense	probably damaging	0.99
R4857:Cacna1i	UTSW	15	80,253,863 (GRCm39)	missense	probably damaging	1.00
R4950:Cacna1i	UTSW	15	80,252,872 (GRCm39)	missense	probably damaging	1.00
R4980:Cacna1i	UTSW	15	80,232,650 (GRCm39)	missense	probably damaging	0.97
R5217:Cacna1i	UTSW	15	80,275,041 (GRCm39)	missense	possibly damaging	0.94
R5437:Cacna1i	UTSW	15	80,255,730 (GRCm39)	missense	probably damaging	1.00
R5519:Cacna1i	UTSW	15	80,255,700 (GRCm39)	missense	probably damaging	1.00
R5642:Cacna1i	UTSW	15	80,279,279 (GRCm39)	missense	possibly damaging	0.47
R6217:Cacna1i	UTSW	15	80,273,333 (GRCm39)	missense	probably damaging	1.00
R6225:Cacna1i	UTSW	15	80,205,427 (GRCm39)	missense	probably damaging	1.00
R6251:Cacna1i	UTSW	15	80,220,883 (GRCm39)	missense	probably damaging	1.00
R6463:Cacna1i	UTSW	15	80,239,959 (GRCm39)	missense	probably damaging	0.97
R6490:Cacna1i	UTSW	15	80,262,448 (GRCm39)	missense	probably damaging	1.00
R6613:Cacna1i	UTSW	15	80,205,460 (GRCm39)	missense	probably damaging	1.00
R6884:Cacna1i	UTSW	15	80,259,010 (GRCm39)	missense	probably damaging	1.00
R6904:Cacna1i	UTSW	15	80,259,002 (GRCm39)	missense	probably damaging	1.00
R7017:Cacna1i	UTSW	15	80,264,671 (GRCm39)	missense	probably damaging	1.00
R7155:Cacna1i	UTSW	15	80,279,439 (GRCm39)	missense	probably benign	0.04
R7274:Cacna1i	UTSW	15	80,261,023 (GRCm39)	missense	possibly damaging	0.95
R7323:Cacna1i	UTSW	15	80,275,854 (GRCm39)	missense	possibly damaging	0.86
R7335:Cacna1i	UTSW	15	80,259,776 (GRCm39)	missense	probably damaging	1.00
R7571:Cacna1i	UTSW	15	80,259,537 (GRCm39)	missense	probably damaging	1.00
R7768:Cacna1i	UTSW	15	80,265,389 (GRCm39)	missense	probably damaging	1.00
R7820:Cacna1i	UTSW	15	80,256,573 (GRCm39)	missense	probably benign	0.00
R7987:Cacna1i	UTSW	15	80,204,553 (GRCm39)	splice site	probably null
R8150:Cacna1i	UTSW	15	80,259,540 (GRCm39)	missense	probably damaging	1.00
R8206:Cacna1i	UTSW	15	80,274,016 (GRCm39)	splice site	probably null
R8270:Cacna1i	UTSW	15	80,257,835 (GRCm39)	missense	probably damaging	0.99
R8501:Cacna1i	UTSW	15	80,266,247 (GRCm39)	critical splice donor site	probably null
R8518:Cacna1i	UTSW	15	80,243,095 (GRCm39)	nonsense	probably null
R8552:Cacna1i	UTSW	15	80,204,598 (GRCm39)	missense	possibly damaging	0.69
R8679:Cacna1i	UTSW	15	80,260,011 (GRCm39)	intron	probably benign
R8696:Cacna1i	UTSW	15	80,266,175 (GRCm39)	missense	probably damaging	0.98
R8887:Cacna1i	UTSW	15	80,258,894 (GRCm39)	missense	possibly damaging	0.91
R9274:Cacna1i	UTSW	15	80,254,354 (GRCm39)	missense	probably damaging	1.00
R9379:Cacna1i	UTSW	15	80,259,495 (GRCm39)	missense	probably damaging	1.00
R9508:Cacna1i	UTSW	15	80,279,372 (GRCm39)	missense	probably benign	0.06
R9518:Cacna1i	UTSW	15	80,271,978 (GRCm39)	missense	probably damaging	1.00
R9674:Cacna1i	UTSW	15	80,264,629 (GRCm39)	missense	probably damaging	1.00
R9747:Cacna1i	UTSW	15	80,246,318 (GRCm39)	missense	probably benign	0.11
R9769:Cacna1i	UTSW	15	80,253,793 (GRCm39)	missense	probably damaging	1.00
X0022:Cacna1i	UTSW	15	80,246,163 (GRCm39)	missense	probably damaging	0.99
X0024:Cacna1i	UTSW	15	80,246,340 (GRCm39)	missense	probably benign	0.03
X0058:Cacna1i	UTSW	15	80,263,303 (GRCm39)	missense	probably damaging	1.00
Z1177:Cacna1i	UTSW	15	80,273,584 (GRCm39)	missense	possibly damaging	0.94
Z1177:Cacna1i	UTSW	15	80,265,380 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CACACAGTAGGTCCTCAGAGAG -3'
(R):5'- TGGGTGGAGTCCATTCCTAG -3'

Sequencing Primer
(F):5'- GGCCTCATCAGATCTACTACTCAGG -3'
(R):5'- GAGAAATGCATACAAGAGTACTCATC -3'

Posted On

2020-09-02