Incidental Mutation 'R7017:Cacna1i'
ID 545407
Institutional Source Beutler Lab
Gene Symbol Cacna1i
Ensembl Gene ENSMUSG00000022416
Gene Name calcium channel, voltage-dependent, alpha 1I subunit
Synonyms
MMRRC Submission 045118-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7017 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 80171439-80282480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80264671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1500 (F1500L)
Ref Sequence ENSEMBL: ENSMUSP00000125229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160424] [ENSMUST00000162155]
AlphaFold E9Q7P2
Predicted Effect probably benign
Transcript: ENSMUST00000160424
AA Change: F1500L

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: F1500L

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: F1500L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: F1500L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (75/75)
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
2410137M14Rik A G 17: 37,288,926 (GRCm39) probably benign Het
Acot3 A T 12: 84,100,077 (GRCm39) probably benign Het
Add3 T A 19: 53,222,284 (GRCm39) V297E possibly damaging Het
Arfgap1 C G 2: 180,618,097 (GRCm39) probably null Het
Cacna1s T C 1: 136,023,596 (GRCm39) I945T probably damaging Het
Ccdc180 T A 4: 45,940,934 (GRCm39) N1334K possibly damaging Het
Cd5l C A 3: 87,273,368 (GRCm39) Y112* probably null Het
Cracd GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GAGACAACGCGAGGCCGAGAGGCAGG 5: 77,004,795 (GRCm39) probably benign Het
Cyp2d40 A T 15: 82,644,234 (GRCm39) F297Y unknown Het
Ddx4 C T 13: 112,738,022 (GRCm39) V546I probably damaging Het
Dgkg T C 16: 22,391,463 (GRCm39) M332V probably benign Het
Dnah12 T C 14: 26,456,835 (GRCm39) I867T probably benign Het
Dnah2 T A 11: 69,382,373 (GRCm39) K1246* probably null Het
Drd2 G A 9: 49,312,129 (GRCm39) V161I probably benign Het
Dsp A G 13: 38,370,683 (GRCm39) D862G probably benign Het
Ephx4 T C 5: 107,553,980 (GRCm39) F10S probably damaging Het
Fabp9 C A 3: 10,259,756 (GRCm39) A76S possibly damaging Het
Fat4 G A 3: 38,945,692 (GRCm39) M1528I probably benign Het
Fbxl12 A G 9: 20,529,616 (GRCm39) S84P unknown Het
Fbxo40 T C 16: 36,790,732 (GRCm39) D126G probably damaging Het
Fpr1 C T 17: 18,097,654 (GRCm39) V112I probably benign Het
Frem2 T C 3: 53,427,023 (GRCm39) N2975S probably benign Het
Gask1a T C 9: 121,795,052 (GRCm39) probably null Het
Gm7945 T C 14: 41,105,610 (GRCm39) Y156C Het
Gnpat T C 8: 125,590,014 (GRCm39) V13A probably benign Het
Gpx5 G A 13: 21,475,561 (GRCm39) P55L probably damaging Het
Hbp1 A G 12: 31,993,852 (GRCm39) S59P probably damaging Het
Ighv1-36 T A 12: 114,843,533 (GRCm39) D109V probably damaging Het
Iqcf5 T A 9: 106,392,863 (GRCm39) I40N possibly damaging Het
Kcnma1 T G 14: 23,544,711 (GRCm39) I484L possibly damaging Het
Kera A T 10: 97,444,939 (GRCm39) R99S possibly damaging Het
Kif3b T A 2: 153,171,644 (GRCm39) S707R possibly damaging Het
Lilra6 G T 7: 3,911,707 (GRCm39) T317N possibly damaging Het
Lrrc15 C T 16: 30,091,780 (GRCm39) E520K probably benign Het
Lrrc34 C T 3: 30,699,465 (GRCm39) probably null Het
Lvrn A G 18: 46,983,745 (GRCm39) T163A probably benign Het
Met T A 6: 17,491,286 (GRCm39) L16* probably null Het
Mpzl2 G T 9: 44,958,587 (GRCm39) D108Y probably benign Het
Mrgprb2 T A 7: 48,202,585 (GRCm39) I47F probably benign Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Mybphl T A 3: 108,282,154 (GRCm39) V128E probably damaging Het
Nckap5 A T 1: 126,030,398 (GRCm39) D231E probably damaging Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Orm1 T A 4: 63,263,448 (GRCm39) I87K probably benign Het
Pdgfrb C T 18: 61,214,076 (GRCm39) P954S probably benign Het
Pdzd8 G T 19: 59,333,784 (GRCm39) S79* probably null Het
Pdzd9 T A 7: 120,262,225 (GRCm39) H79L probably benign Het
Plcg1 A T 2: 160,600,017 (GRCm39) I926F probably damaging Het
Plec A T 15: 76,057,741 (GRCm39) F4078L probably damaging Het
Plek G A 11: 17,002,220 (GRCm39) probably benign Het
Pogz T C 3: 94,761,335 (GRCm39) I25T probably damaging Het
Ppfia3 A T 7: 45,008,224 (GRCm39) D215E probably benign Het
Psg22 C A 7: 18,458,366 (GRCm39) S352R probably benign Het
Ptchd4 A G 17: 42,813,626 (GRCm39) Y509C probably damaging Het
Ralgapb C A 2: 158,290,257 (GRCm39) N389K probably benign Het
Rdh1 A G 10: 127,598,906 (GRCm39) D129G probably benign Het
Rimbp3 A G 16: 17,027,610 (GRCm39) T345A probably benign Het
S100a14 T C 3: 90,434,602 (GRCm39) probably null Het
Scamp1 T A 13: 94,361,423 (GRCm39) R152S probably damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Srf T C 17: 46,861,830 (GRCm39) T383A probably benign Het
St6galnac5 T C 3: 152,552,040 (GRCm39) M176V probably damaging Het
St8sia1 C A 6: 142,813,632 (GRCm39) V177F probably damaging Het
Syt12 C T 19: 4,510,895 (GRCm39) probably null Het
Tanc2 A G 11: 105,813,934 (GRCm39) I1793V probably benign Het
Tas2r123 A G 6: 132,824,513 (GRCm39) I137V probably benign Het
Tenm2 T A 11: 36,062,236 (GRCm39) Y543F probably damaging Het
Tent5b T C 4: 133,213,545 (GRCm39) S139P possibly damaging Het
Tgfbr1 T C 4: 47,410,728 (GRCm39) I488T probably damaging Het
Tgm1 T A 14: 55,942,398 (GRCm39) Y651F possibly damaging Het
Thbs3 A T 3: 89,131,722 (GRCm39) D698V probably damaging Het
Tpra1 T A 6: 88,885,294 (GRCm39) I82N probably damaging Het
Ubr4 T A 4: 139,120,401 (GRCm39) D275E probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wwp1 T C 4: 19,623,124 (GRCm39) Y787C probably damaging Het
Znfx1 T C 2: 166,890,454 (GRCm39) S677G probably 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
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
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'- TCAGGCTAGCACAGATGAGG -3'
(R):5'- ATCCATTCACTGTGACTTAATCGC -3'

Sequencing Primer
(F):5'- AGCGATGTGAAATGACTTAACAC -3'
(R):5'- CCTCTTGTCTGGGAATGTAGTCAAC -3'
Posted On 2019-05-13