Mutagenetix > Incidental Mutation

Incidental Mutation 'R8887:Cacna1i'

677440

Institutional Source

Beutler Lab

Gene Symbol

Cacna1i

Ensembl Gene

ENSMUSG00000022416

Gene Name

calcium channel, voltage-dependent, alpha 1I subunit

Synonyms

MMRRC Submission

068752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80171439-80282480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80258894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1201 (V1201A)

Ref Sequence

ENSEMBL: ENSMUSP00000125063 (fasta)

Gene Model

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

AlphaFold

E9Q7P2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160424
AA Change: V1201A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: V1201A

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

possibly damaging
Transcript: ENSMUST00000162155
AA Change: V1201A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: V1201A

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: 99.5%
20x: 98.5%

Validation Efficiency

98% (93/95)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	T	C	17: 57,175,285 (GRCm39)	T76A	probably benign	Het
Actn1	A	G	12: 80,215,197 (GRCm39)	C860R	probably damaging	Het
Adam23	T	A	1: 63,554,744 (GRCm39)	L170Q	probably damaging	Het
Afdn	C	T	17: 14,116,401 (GRCm39)	R1620*	probably null	Het
Agfg1	A	G	1: 82,848,525 (GRCm39)		probably benign	Het
Aire	A	G	10: 77,870,298 (GRCm39)	S476P	probably damaging	Het
Arhgef26	A	G	3: 62,247,401 (GRCm39)	T162A	probably benign	Het
Atp1a2	T	C	1: 172,113,222 (GRCm39)	Q487R	probably null	Het
BC048507	T	A	13: 68,011,628 (GRCm39)	C2S	probably benign	Het
Bltp1	G	T	3: 37,087,503 (GRCm39)	A615S	possibly damaging	Het
Bnc2	A	C	4: 84,209,707 (GRCm39)		probably benign	Het
Bop1	C	T	15: 76,338,524 (GRCm39)	G473R	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm39)	E75G	probably benign	Het
Cecr2	C	A	6: 120,715,162 (GRCm39)	T249K	probably damaging	Het
Clca3a2	C	A	3: 144,790,810 (GRCm39)	G421*	probably null	Het
Clec1b	A	T	6: 129,378,703 (GRCm39)		probably null	Het
Cnksr3	C	T	10: 7,104,467 (GRCm39)	D79N	probably damaging	Het
Col15a1	A	G	4: 47,287,091 (GRCm39)	Q843R	probably damaging	Het
Col6a3	T	C	1: 90,755,948 (GRCm39)	S114G	probably benign	Het
Corin	A	T	5: 72,486,953 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,503 (GRCm39)	Y92H	probably damaging	Het
Dcbld2	T	C	16: 58,229,270 (GRCm39)	L51P	probably damaging	Het
Dip2c	T	A	13: 9,673,989 (GRCm39)		probably benign	Het
Dlc1	A	T	8: 37,051,481 (GRCm39)	V299E	probably benign	Het
Dlgap2	G	A	8: 14,229,682 (GRCm39)		probably null	Het
Dnah1	A	G	14: 31,032,997 (GRCm39)	L346P	probably damaging	Het
Dnah9	T	C	11: 65,746,210 (GRCm39)	T3968A	probably benign	Het
Duox2	A	C	2: 122,120,044 (GRCm39)	M822R	probably null	Het
E2f7	A	T	10: 110,610,674 (GRCm39)	Q433L	probably benign	Het
Eif3k	A	C	7: 28,679,901 (GRCm39)	Y42*	probably null	Het
Elmod3	A	G	6: 72,563,494 (GRCm39)	S45P	probably damaging	Het
Emilin3	C	A	2: 160,751,108 (GRCm39)	V214F	possibly damaging	Het
Fbxo10	A	T	4: 45,058,887 (GRCm39)	F283L	probably benign	Het
Fbxw7	T	C	3: 84,876,549 (GRCm39)	Y358H		Het
G430095P16Rik	A	G	8: 85,453,043 (GRCm39)	N10S	unknown	Het
Gldc	A	G	19: 30,111,156 (GRCm39)	V540A	possibly damaging	Het
Gm3667	T	A	14: 18,271,553 (GRCm39)	E67D	probably benign	Het
Golga3	T	A	5: 110,353,626 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,217,255 (GRCm39)	E38G	probably benign	Het
Hectd4	A	G	5: 121,433,541 (GRCm39)	D952G	probably benign	Het
Hoxb8	T	A	11: 96,175,223 (GRCm39)	L220Q	probably damaging	Het
Ice1	A	T	13: 70,751,050 (GRCm39)	L1679M	probably damaging	Het
Ifi202b	T	A	1: 173,802,480 (GRCm39)	Y118F	probably damaging	Het
Ift122	A	T	6: 115,868,880 (GRCm39)	T456S	probably benign	Het
Ighg3	G	A	12: 113,323,845 (GRCm39)	T181I		Het
Ighv1-66	C	A	12: 115,557,032 (GRCm39)	V17F	probably damaging	Het
Ighv5-12-4	A	G	12: 113,726,130 (GRCm39)	V31A	possibly damaging	Het
Ints12	T	A	3: 132,815,003 (GRCm39)	N403K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kalrn	A	C	16: 34,047,496 (GRCm39)	N908K	probably benign	Het
Kctd9	G	A	14: 67,962,016 (GRCm39)	V20I	unknown	Het
Krt78	G	T	15: 101,861,746 (GRCm39)	L167M	probably damaging	Het
Ldb1	T	C	19: 46,023,294 (GRCm39)	E206G	probably damaging	Het
Lig1	A	G	7: 13,030,713 (GRCm39)	Y455C	probably damaging	Het
Ltbp1	T	G	17: 75,486,077 (GRCm39)	I34S	probably damaging	Het
Map2	T	C	1: 66,454,758 (GRCm39)	I1216T	possibly damaging	Het
Mex3c	T	C	18: 73,706,800 (GRCm39)	V229A	probably damaging	Het
Mfsd11	T	C	11: 116,745,526 (GRCm39)		probably null	Het
Mroh1	A	G	15: 76,331,474 (GRCm39)	T1233A	probably benign	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Nipbl	A	T	15: 8,391,271 (GRCm39)	H234Q	probably damaging	Het
Npc1l1	G	A	11: 6,175,665 (GRCm39)	P549S	probably damaging	Het
Or12d2	A	T	17: 37,624,642 (GRCm39)	L211Q	probably damaging	Het
Or4c3	A	G	2: 89,852,269 (GRCm39)	V47A	probably benign	Het
Or5h22	A	T	16: 58,894,846 (GRCm39)	V199D	possibly damaging	Het
Or5w22	A	G	2: 87,363,187 (GRCm39)	D270G	possibly damaging	Het
Or6c3b	A	T	10: 129,527,372 (GRCm39)	Y179*	probably null	Het
Padi3	A	T	4: 140,523,795 (GRCm39)	C228*	probably null	Het
Palld	T	A	8: 61,986,512 (GRCm39)	D1015V	unknown	Het
Pcna-ps2	A	T	19: 9,261,488 (GRCm39)	Y249F	probably benign	Het
Pelo	C	T	13: 115,225,451 (GRCm39)	C258Y	probably benign	Het
Ppp1r13b	A	T	12: 111,803,430 (GRCm39)		probably benign	Het
Pramel26	A	G	4: 143,539,257 (GRCm39)	F79L	probably damaging	Het
Prdm2	A	G	4: 142,860,771 (GRCm39)	W840R	probably damaging	Het
Prkcg	A	G	7: 3,370,857 (GRCm39)	D428G	possibly damaging	Het
Pus7	G	A	5: 23,948,476 (GRCm39)	R571*	probably null	Het
Rab11fip3	A	G	17: 26,286,927 (GRCm39)	C409R	possibly damaging	Het
Rdh13	T	C	7: 4,434,522 (GRCm39)	D186G	probably damaging	Het
Rslcan18	T	A	13: 67,246,793 (GRCm39)	H273L	probably damaging	Het
Rxfp1	T	A	3: 79,559,289 (GRCm39)		probably benign	Het
Sh3bp1	T	A	15: 78,788,540 (GRCm39)		probably null	Het
Siglecg	T	A	7: 43,058,008 (GRCm39)	S9T	probably benign	Het
Slc9a1	T	C	4: 133,139,258 (GRCm39)	F159L	probably benign	Het
Slc9a2	A	G	1: 40,758,009 (GRCm39)	I183V	probably benign	Het
St6galnac4	A	G	2: 32,484,110 (GRCm39)	M103V	probably damaging	Het
Tbc1d30	T	C	10: 121,187,059 (GRCm39)	D42G	possibly damaging	Het
Tlr5	C	A	1: 182,801,332 (GRCm39)	T212K	probably benign	Het
Trim43b	T	G	9: 88,969,642 (GRCm39)	I269L	probably benign	Het
Ttll6	T	C	11: 96,047,492 (GRCm39)	L697P	possibly damaging	Het
Ttn	T	G	2: 76,549,239 (GRCm39)	T31813P	probably damaging	Het
Ttn	A	T	2: 76,571,932 (GRCm39)	D26320E	probably damaging	Het
Uba6	A	G	5: 86,307,061 (GRCm39)		probably null	Het
Usp1	C	G	4: 98,819,185 (GRCm39)	Q216E	probably benign	Het
Vcan	T	C	13: 89,853,026 (GRCm39)	T645A	probably benign	Het
Wdr64	C	A	1: 175,599,850 (GRCm39)	P559H	probably benign	Het
Zfat	T	C	15: 68,056,315 (GRCm39)	Y247C	probably damaging	Het
Zfp979	A	T	4: 147,698,219 (GRCm39)	N163K	probably 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
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
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
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'- AGCTTGCAGACTTCTCTGG -3'
(R):5'- AGAGATGAGCTTCTCCCACC -3'

Sequencing Primer
(F):5'- CCCTCAGAAGAACCGTTGTGAG -3'
(R):5'- CCCATCACCATGCACTGACTAGG -3'

Posted On

2021-08-02