Incidental Mutation 'R0638:Cacna1i'
ID 56838
Institutional Source Beutler Lab
Gene Symbol Cacna1i
Ensembl Gene ENSMUSG00000022416
Gene Name calcium channel, voltage-dependent, alpha 1I subunit
Synonyms
MMRRC Submission 038827-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0638 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 80171439-80282480 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80265281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1511 (N1511S)
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: N1511S

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125063
Gene: ENSMUSG00000022416
AA Change: N1511S

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 possibly damaging
Transcript: ENSMUST00000162155
AA Change: N1511S

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125229
Gene: ENSMUSG00000022416
AA Change: N1511S

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 0.7543 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.5%
Validation Efficiency 99% (76/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,547,572 (GRCm39) Q161K probably benign Het
Aatk A T 11: 119,900,748 (GRCm39) L1216Q probably damaging Het
Aifm3 T C 16: 17,321,535 (GRCm39) F463L possibly damaging Het
Antxr2 C T 5: 98,108,496 (GRCm39) W338* probably null Het
Apc2 T C 10: 80,140,801 (GRCm39) S219P probably damaging Het
Arfgap3 A T 15: 83,192,389 (GRCm39) probably null Het
Arrdc5 A G 17: 56,607,020 (GRCm39) V75A possibly damaging Het
Atg16l2 A T 7: 100,949,317 (GRCm39) probably null Het
Cad T C 5: 31,235,032 (GRCm39) Y2095H probably damaging Het
Chia1 T C 3: 106,035,753 (GRCm39) probably benign Het
Crybg2 A G 4: 133,801,765 (GRCm39) D975G probably damaging Het
Dagla T C 19: 10,232,247 (GRCm39) I480V probably damaging Het
Efl1 C T 7: 82,301,095 (GRCm39) T33I probably damaging Het
Esp36 A G 17: 38,728,060 (GRCm39) F74L probably benign Het
Faim T C 9: 98,874,149 (GRCm39) probably benign Het
Fam83h G T 15: 75,875,776 (GRCm39) H520Q probably benign Het
Fbn2 A T 18: 58,178,446 (GRCm39) C1931S probably damaging Het
Frs3 A G 17: 48,012,581 (GRCm39) D96G probably benign Het
Gbp4 A G 5: 105,269,706 (GRCm39) M374T probably damaging Het
Gimap1 C T 6: 48,718,359 (GRCm39) probably benign Het
Gm10010 A G 6: 128,177,576 (GRCm39) noncoding transcript Het
Gm10355 T C 3: 101,214,214 (GRCm39) noncoding transcript Het
Gmip C T 8: 70,264,095 (GRCm39) probably benign Het
Gpc2 A T 5: 138,276,796 (GRCm39) F110Y possibly damaging Het
Ifi44l C T 3: 151,468,396 (GRCm39) V45M probably benign Het
Il15 T C 8: 83,069,890 (GRCm39) E58G probably damaging Het
Kat2b T C 17: 53,951,771 (GRCm39) probably benign Het
Kcnh7 C A 2: 62,607,854 (GRCm39) V576L probably benign Het
Lrrc66 T A 5: 73,772,816 (GRCm39) probably benign Het
Mical1 A G 10: 41,358,235 (GRCm39) E416G probably benign Het
Mroh3 A G 1: 136,118,740 (GRCm39) Y526H probably damaging Het
Mtx2 T C 2: 74,699,634 (GRCm39) probably benign Het
Naip6 A T 13: 100,437,036 (GRCm39) Y496N probably benign Het
Nfyc A G 4: 120,626,081 (GRCm39) S73P probably benign Het
Or10v9 C T 19: 11,832,487 (GRCm39) V277M probably damaging Het
Or10v9 A C 19: 11,832,732 (GRCm39) V195G probably damaging Het
Or1e23 T A 11: 73,407,750 (GRCm39) I92F probably damaging Het
Or5ak25 A G 2: 85,268,845 (GRCm39) I219T probably benign Het
Or6c69b T A 10: 129,627,101 (GRCm39) D119V probably damaging Het
P2ry14 A G 3: 59,022,869 (GRCm39) V206A probably benign Het
Polg G A 7: 79,109,896 (GRCm39) probably benign Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Ptgs1 G A 2: 36,130,868 (GRCm39) probably benign Het
Pus7l A G 15: 94,421,298 (GRCm39) S671P probably benign Het
Ralgapa2 T C 2: 146,184,112 (GRCm39) T1547A probably benign Het
Rif1 T C 2: 52,001,600 (GRCm39) S1685P probably benign Het
Rnf213 T C 11: 119,361,036 (GRCm39) Y4452H probably damaging Het
Samd7 A G 3: 30,810,670 (GRCm39) D229G probably benign Het
Serpina3j T C 12: 104,281,078 (GRCm39) S84P possibly damaging Het
Slc35d1 A G 4: 103,070,441 (GRCm39) probably benign Het
Sorbs2 A G 8: 46,249,347 (GRCm39) D847G probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Steap4 T C 5: 8,027,030 (GRCm39) probably benign Het
Tg A C 15: 66,589,057 (GRCm39) T13P probably damaging Het
Timeless T A 10: 128,080,542 (GRCm39) Y474* probably null Het
Tmem94 T C 11: 115,682,886 (GRCm39) probably null Het
Trdmt1 G A 2: 13,521,459 (GRCm39) probably benign Het
Trim23 T C 13: 104,337,817 (GRCm39) Y522H probably benign Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Txnl1 A G 18: 63,825,135 (GRCm39) probably benign Het
Unkl T C 17: 25,427,057 (GRCm39) probably benign Het
Usp54 T A 14: 20,639,437 (GRCm39) probably benign Het
Vcam1 T C 3: 115,910,908 (GRCm39) K497E possibly damaging Het
Vmn1r49 C A 6: 90,049,648 (GRCm39) S118I possibly damaging Het
Vmn2r118 T C 17: 55,915,466 (GRCm39) K495E probably benign Het
Wrnip1 G A 13: 33,005,073 (GRCm39) C560Y possibly damaging Het
Xkr5 T C 8: 18,983,563 (GRCm39) R660G probably benign Het
Zfp280c A G X: 47,637,580 (GRCm39) probably benign Het
Zfp707 G A 15: 75,846,978 (GRCm39) A291T 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
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 80,205,389 (GRCm39) missense probably damaging 0.97
R1563:Cacna1i UTSW 15 80,274,056 (GRCm39) splice site probably benign
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
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'- GCCAAAGGCTACTCAAAGGGATCAG -3'
(R):5'- CATGCTCTCCCGTAGGTAACCAATG -3'

Sequencing Primer
(F):5'- ttagaagtcagagtccatgcc -3'
(R):5'- TAGGTAACCAATGGGGAGCC -3'
Posted On 2013-07-11