Incidental Mutation 'R6225:Cacna1i'
ID 504294
Institutional Source Beutler Lab
Gene Symbol Cacna1i
Ensembl Gene ENSMUSG00000022416
Gene Name calcium channel, voltage-dependent, alpha 1I subunit
Synonyms
MMRRC Submission 044356-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6225 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 80171439-80282480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80205427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 128 (M128V)
Ref Sequence ENSEMBL: ENSMUSP00000125229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160424] [ENSMUST00000162155]
AlphaFold E9Q7P2
Predicted Effect possibly damaging
Transcript: ENSMUST00000160424
AA Change: M128V

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: M128V

DomainStartEndE-ValueType
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: M128V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: M128V

DomainStartEndE-ValueType
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 0.3921 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (74/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,870,445 (GRCm39) H288R possibly damaging Het
Adh1 T C 3: 137,995,565 (GRCm39) F323L probably benign Het
Adss1 A C 12: 112,600,837 (GRCm39) H226P probably damaging Het
Ahrr A G 13: 74,371,031 (GRCm39) S230P possibly damaging Het
Akap9 T C 5: 4,012,105 (GRCm39) V936A probably damaging Het
B4galnt2 A G 11: 95,759,268 (GRCm39) Y339H probably damaging Het
Bltp1 T C 3: 37,002,453 (GRCm39) V1466A probably damaging Het
C4b C A 17: 34,957,848 (GRCm39) G611V possibly damaging Het
Chia1 T C 3: 106,038,213 (GRCm39) S370P possibly damaging Het
Cops6 T C 5: 138,159,673 (GRCm39) V9A possibly damaging Het
D630003M21Rik A T 2: 158,059,321 (GRCm39) I193K probably benign Het
Daam2 T C 17: 49,801,467 (GRCm39) D90G probably damaging Het
Fads3 A G 19: 10,019,202 (GRCm39) D36G probably benign Het
Fam185a T C 5: 21,630,554 (GRCm39) V130A probably damaging Het
Fbn1 A T 2: 125,172,463 (GRCm39) N1928K probably damaging Het
Fstl3 A G 10: 79,615,843 (GRCm39) M110V probably benign Het
G2e3 A G 12: 51,415,919 (GRCm39) T552A possibly damaging Het
Gfra1 G A 19: 58,226,830 (GRCm39) T462I probably damaging Het
Glrx2 T A 1: 143,621,121 (GRCm39) probably benign Het
Gm10100 G T 10: 77,562,498 (GRCm39) C60F possibly damaging Het
Gm43302 T A 5: 105,425,605 (GRCm39) K275* probably null Het
Gm6569 A G 15: 73,711,640 (GRCm39) probably benign Het
Herc6 G T 6: 57,639,139 (GRCm39) V867L possibly damaging Het
Hhipl2 T A 1: 183,209,459 (GRCm39) probably null Het
Kcnj16 A T 11: 110,916,378 (GRCm39) K347* probably null Het
Kcnt2 T A 1: 140,354,661 (GRCm39) C305* probably null Het
Large2 A G 2: 92,196,825 (GRCm39) L477P probably damaging Het
Lnpep T C 17: 17,799,245 (GRCm39) T137A possibly damaging Het
Mettl3 T C 14: 52,534,215 (GRCm39) probably null Het
Mical3 C T 6: 120,935,684 (GRCm39) S1614N probably damaging Het
Mmut T A 17: 41,249,622 (GRCm39) V199E possibly damaging Het
Morc3 C A 16: 93,642,082 (GRCm39) Y100* probably null Het
Mrc2 A G 11: 105,237,646 (GRCm39) K1108R probably benign Het
Mrpl2 T C 17: 46,960,835 (GRCm39) V243A probably damaging Het
Mtor T A 4: 148,605,794 (GRCm39) N1505K probably benign Het
Myo1g A T 11: 6,469,168 (GRCm39) Y45N probably damaging Het
Nckap5l C A 15: 99,325,905 (GRCm39) L199F possibly damaging Het
Ndufc2 A G 7: 97,056,099 (GRCm39) T66A probably damaging Het
Nos1 T A 5: 118,050,917 (GRCm39) H779Q probably damaging Het
Or12e13 A G 2: 87,663,661 (GRCm39) T93A probably benign Het
Or13j1 T C 4: 43,705,698 (GRCm39) Y290C probably damaging Het
Or1e23 T C 11: 73,407,831 (GRCm39) N65D probably damaging Het
Or4c3 A G 2: 89,851,573 (GRCm39) probably null Het
Or51ah3 A T 7: 103,210,489 (GRCm39) R268S probably benign Het
Or5au1 C A 14: 52,272,825 (GRCm39) V248L possibly damaging Het
Or5k16 T C 16: 58,736,545 (GRCm39) N153S probably benign Het
Otog C T 7: 45,898,458 (GRCm39) T192I possibly damaging Het
Oxct1 T C 15: 4,064,812 (GRCm39) V50A probably benign Het
P3h2 T A 16: 25,784,493 (GRCm39) D667V probably damaging Het
Pcdhb20 A G 18: 37,638,047 (GRCm39) Y191C probably damaging Het
Pds5b T G 5: 150,670,083 (GRCm39) V357G probably damaging Het
Pggt1b A G 18: 46,407,674 (GRCm39) V81A possibly damaging Het
Phxr2 A G 10: 98,962,043 (GRCm39) probably benign Het
Pnpt1 T C 11: 29,095,469 (GRCm39) I406T probably benign Het
Ppat T C 5: 77,070,202 (GRCm39) I173V probably damaging Het
Proser3 T C 7: 30,243,153 (GRCm39) S167G probably damaging Het
Rnf135 A C 11: 80,080,053 (GRCm39) T115P possibly damaging Het
Rpl22 C T 4: 152,414,536 (GRCm39) R65C probably benign Het
Scel T C 14: 103,829,420 (GRCm39) F405L probably benign Het
Serinc3 A G 2: 163,469,799 (GRCm39) Y350H probably damaging Het
Slc25a16 C A 10: 62,764,102 (GRCm39) T53K probably damaging Het
Slco1a1 A T 6: 141,870,215 (GRCm39) F308I possibly damaging Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Smok3c T C 5: 138,063,314 (GRCm39) V267A probably benign Het
Ssrp1 A G 2: 84,873,158 (GRCm39) D473G probably benign Het
Svs6 A G 2: 164,159,405 (GRCm39) E56G possibly damaging Het
Tas2r130 TCATTTC T 6: 131,607,547 (GRCm39) probably benign Het
Thoc3 T C 13: 54,615,785 (GRCm39) N93S probably benign Het
Tle6 A G 10: 81,428,600 (GRCm39) C443R probably damaging Het
Tmed6 A G 8: 107,788,371 (GRCm39) F192S probably damaging Het
Tpx2 A G 2: 152,718,548 (GRCm39) N184D probably benign Het
Vmn2r31 T A 7: 7,397,638 (GRCm39) N207Y probably benign Het
Zfp267 T C 3: 36,220,352 (GRCm39) F792L probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp972 A T 2: 177,549,117 (GRCm39) probably null Het
Zzef1 G A 11: 72,760,631 (GRCm39) C1318Y possibly damaging Het
Other mutations in Cacna1i
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CATGAGCAGAATGGGCTGTG -3'
(R):5'- ATCTACAGGGAGCGTTGTCTC -3'

Sequencing Primer
(F):5'- AATGGGCTGTGGAACCCTG -3'
(R):5'- CAGGGAGCGTTGTCTCTCTGAC -3'
Posted On 2018-02-28