Mutagenetix > Incidental Mutation

Incidental Mutation 'R2162:Cacna1i'

235229

Institutional Source

Beutler Lab

Gene Symbol

Cacna1i

Ensembl Gene

ENSMUSG00000022416

Gene Name

calcium channel, voltage-dependent, alpha 1I subunit

Synonyms

MMRRC Submission

040165-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80171439-80282480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80240388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 370 (F370S)

Ref Sequence

ENSEMBL: ENSMUSP00000125229 (fasta)

Gene Model

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

AlphaFold

E9Q7P2

Predicted Effect

probably damaging
Transcript: ENSMUST00000160424
AA Change: F370S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: F370S

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: F370S

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

SMART Domains

Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: F370S

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

Meta Mutation Damage Score

0.6544

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	C	15: 94,229,339 (GRCm39)	C927G	probably damaging	Het
Afdn	T	A	17: 14,116,436 (GRCm39)	D190E	probably benign	Het
Ankrd28	T	C	14: 31,430,719 (GRCm39)	D850G	probably damaging	Het
Arhgap45	T	C	10: 79,852,813 (GRCm39)	M1T	probably null	Het
Atp6v0a4	T	G	6: 38,065,581 (GRCm39)	K128N	possibly damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Clca4b	T	C	3: 144,634,348 (GRCm39)	I82V	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Eng	C	T	2: 32,569,059 (GRCm39)	R528C	probably damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Hlx	T	A	1: 184,462,889 (GRCm39)		probably null	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Il36rn	G	T	2: 24,169,692 (GRCm39)	L17F	probably damaging	Het
Itga1	C	T	13: 115,167,446 (GRCm39)	V157I	probably benign	Het
Krtap19-3	T	G	16: 88,674,607 (GRCm39)	*88C	probably null	Het
Lzic	G	C	4: 149,573,185 (GRCm39)	E112D	probably null	Het
Mark2	G	C	19: 7,260,112 (GRCm39)	S111C	probably damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh7	G	C	4: 106,557,378 (GRCm39)	S777R	probably damaging	Het
Nrxn1	G	A	17: 90,469,859 (GRCm39)	R35C	probably damaging	Het
Or12e10	T	A	2: 87,640,704 (GRCm39)	I180K	probably damaging	Het
Or51v8	T	G	7: 103,320,079 (GRCm39)	Q53P	possibly damaging	Het
Or5p69	C	A	7: 107,966,769 (GRCm39)	P24Q	probably benign	Het
Pacs2	A	G	12: 113,014,567 (GRCm39)	T243A	probably benign	Het
Pan2	A	G	10: 128,140,091 (GRCm39)	E4G	possibly damaging	Het
Pdp1	A	G	4: 11,961,123 (GRCm39)	V396A	probably damaging	Het
Pdzd7	A	G	19: 45,024,494 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,755,914 (GRCm39)		probably benign	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r9b	T	C	11: 94,888,877 (GRCm39)	L97P	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scn9a	T	A	2: 66,364,573 (GRCm39)	Y789F	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Spata31g1	A	G	4: 42,972,238 (GRCm39)	T524A	possibly damaging	Het
Sptan1	T	C	2: 29,908,588 (GRCm39)		probably benign	Het
Srrd	G	T	5: 112,490,810 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,725,550 (GRCm39)	K653E	probably damaging	Het
Usp43	A	G	11: 67,770,795 (GRCm39)	L613P	probably damaging	Het
Vmn1r167	T	C	7: 23,204,224 (GRCm39)	D264G	possibly damaging	Het
Whamm	A	G	7: 81,221,089 (GRCm39)	D7G	probably damaging	Het
Zcchc17	T	C	4: 130,232,317 (GRCm39)	D62G	probably benign	Het
Zfp280d	T	A	9: 72,206,104 (GRCm39)	I62K	probably damaging	Het
Zfp445	T	G	9: 122,681,541 (GRCm39)	E800A	probably damaging	Het
Zfp516	A	G	18: 83,005,063 (GRCm39)	R656G	possibly damaging	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
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
R8382:Cacna1i	UTSW	15	80,261,017 (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'- GGCATCGGTATCTCTTGGAAC -3'
(R):5'- TCAATCACAGGCTGGGGTTG -3'

Sequencing Primer
(F):5'- CATCGGTATCTCTTGGAACCTTGG -3'
(R):5'- GGAGATGAATTTCCTCCTCCTC -3'

Posted On

2014-10-01