Mutagenetix > Incidental Mutation

Incidental Mutation 'R8150:Cacna1i'

632927

Institutional Source

Beutler Lab

Gene Symbol

Cacna1i

Ensembl Gene

ENSMUSG00000022416

Gene Name

calcium channel, voltage-dependent, alpha 1I subunit

Synonyms

MMRRC Submission

067576-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8150 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80171439-80282480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80259540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1270 (L1270P)

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: L1270P

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

SMART Domains

Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: L1270P

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: L1270P

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

SMART Domains

Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: L1270P

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: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.4%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	A	2: 19,538,635 (GRCm39)	M129L	probably benign	Het
Aadacl2fm1	A	G	3: 59,843,558 (GRCm39)	D84G	probably damaging	Het
Abca2	T	C	2: 25,337,393 (GRCm39)	I2416T	probably damaging	Het
Abca3	A	G	17: 24,615,522 (GRCm39)	D871G	probably benign	Het
Akap9	C	T	5: 4,011,982 (GRCm39)	T895I	probably damaging	Het
Aldh8a1	A	G	10: 21,271,444 (GRCm39)	E390G	probably damaging	Het
Ank2	T	A	3: 126,741,162 (GRCm39)	D1574V		Het
Blmh	T	C	11: 76,859,455 (GRCm39)	V352A	probably benign	Het
Ccdc80	T	A	16: 44,947,792 (GRCm39)	H923Q	probably damaging	Het
Cdc27	G	A	11: 104,406,286 (GRCm39)	H610Y	probably damaging	Het
Cep126	T	C	9: 8,101,791 (GRCm39)	I248V	probably benign	Het
Ces5a	T	C	8: 94,257,430 (GRCm39)	N125S	probably damaging	Het
Chd3	G	A	11: 69,254,510 (GRCm39)	H201Y	probably benign	Het
Cpeb1	T	C	7: 81,007,152 (GRCm39)	T292A	probably damaging	Het
Gli2	G	A	1: 118,763,558 (GRCm39)	T1531I	probably damaging	Het
Gm6871	T	C	7: 41,197,185 (GRCm39)	T7A		Het
Kank1	A	G	19: 25,388,163 (GRCm39)	D612G	possibly damaging	Het
Lhcgr	AT	ATT	17: 89,049,677 (GRCm39)	615	probably null	Het
Mfsd6	T	A	1: 52,747,800 (GRCm39)	D355V	probably benign	Het
Myo7a	T	C	7: 97,712,846 (GRCm39)	K1710E	probably benign	Het
Or13d1	C	G	4: 52,970,788 (GRCm39)	H56D	probably damaging	Het
Or52ae7	A	G	7: 103,119,459 (GRCm39)	D71G	probably damaging	Het
Pcdha8	G	A	18: 37,126,264 (GRCm39)	V249M	probably damaging	Het
Pglyrp3	A	G	3: 91,933,790 (GRCm39)	D145G	probably benign	Het
Pkhd1l1	A	G	15: 44,410,055 (GRCm39)	K2521E	possibly damaging	Het
Pld3	A	G	7: 27,232,086 (GRCm39)	V398A	probably damaging	Het
Plxnb1	A	T	9: 108,941,146 (GRCm39)	T1642S	probably damaging	Het
Ppp2r1a	T	G	17: 21,179,700 (GRCm39)	V348G	possibly damaging	Het
Prdm2	C	A	4: 142,859,303 (GRCm39)	C1329F	possibly damaging	Het
Ric8a	G	T	7: 140,441,269 (GRCm39)	G423V	probably damaging	Het
Rnf17	A	G	14: 56,658,593 (GRCm39)	D94G	probably benign	Het
Serpina3f	T	C	12: 104,185,769 (GRCm39)	F325L	probably damaging	Het
Sin3a	T	A	9: 57,034,568 (GRCm39)	V1247E	possibly damaging	Het
Skint5	C	A	4: 113,798,087 (GRCm39)	M165I	probably benign	Het
Slc19a3	T	G	1: 83,000,216 (GRCm39)	Y267S	probably damaging	Het
Slc22a27	A	T	19: 7,887,390 (GRCm39)	F196Y	possibly damaging	Het
Slc5a4b	A	T	10: 75,939,680 (GRCm39)	I152N	possibly damaging	Het
Tbc1d9	T	A	8: 83,982,519 (GRCm39)	V768E	probably damaging	Het
Tex15	T	A	8: 34,063,534 (GRCm39)	M988K	probably benign	Het
Top2b	T	A	14: 16,393,291 (GRCm38)	F317I	probably damaging	Het
Wfdc8	A	T	2: 164,439,455 (GRCm39)	L309*	probably null	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp949	C	T	9: 88,452,053 (GRCm39)	T541I	probably benign	Het
Zkscan16	T	A	4: 58,952,407 (GRCm39)	I235N	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
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'- ACCTGGCTACAGCATCTTCG -3'
(R):5'- TGCCTTTGAAAAGCTGTGGG -3'

Sequencing Primer
(F):5'- GGCTACAGCATCTTCGTTTCCTG -3'
(R):5'- CCTTTGAAAAGCTGTGGGAAAGG -3'

Posted On

2020-06-30