Incidental Mutation 'R6830:Cacna1e'
ID 534326
Institutional Source Beutler Lab
Gene Symbol Cacna1e
Ensembl Gene ENSMUSG00000004110
Gene Name calcium channel, voltage-dependent, R type, alpha 1E subunit
Synonyms Cav2.3, Cchra1, alpha1E
MMRRC Submission 044940-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R6830 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 154266477-154760247 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 154289720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004214] [ENSMUST00000187541] [ENSMUST00000211821] [ENSMUST00000226546]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000004214
SMART Domains Protein: ENSMUSP00000004214
Gene: ENSMUSG00000004110

DomainStartEndE-ValueType
Pfam:Ion_trans 1 55 6.7e-10 PFAM
Pfam:Ion_trans 168 407 3.3e-56 PFAM
Pfam:PKD_channel 257 401 3.3e-7 PFAM
low complexity region 409 414 N/A INTRINSIC
low complexity region 455 469 N/A INTRINSIC
low complexity region 496 514 N/A INTRINSIC
low complexity region 604 620 N/A INTRINSIC
low complexity region 626 640 N/A INTRINSIC
coiled coil region 793 823 N/A INTRINSIC
Pfam:Ion_trans 847 1128 2.3e-63 PFAM
Pfam:Ion_trans 1172 1429 2.6e-65 PFAM
Pfam:PKD_channel 1256 1424 2.8e-10 PFAM
Pfam:GPHH 1431 1500 1.3e-37 PFAM
Ca_chan_IQ 1555 1589 5.93e-13 SMART
low complexity region 1701 1717 N/A INTRINSIC
low complexity region 1729 1742 N/A INTRINSIC
low complexity region 1764 1780 N/A INTRINSIC
low complexity region 1789 1804 N/A INTRINSIC
low complexity region 1808 1822 N/A INTRINSIC
low complexity region 1832 1846 N/A INTRINSIC
low complexity region 1867 1878 N/A INTRINSIC
low complexity region 1936 1946 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000187541
SMART Domains Protein: ENSMUSP00000140937
Gene: ENSMUSG00000004110

DomainStartEndE-ValueType
Pfam:Ion_trans 128 351 8.5e-54 PFAM
PDB:4DEX|B 354 462 6e-36 PDB
Pfam:Ion_trans 511 703 2.2e-46 PFAM
Pfam:PKD_channel 565 710 1.4e-6 PFAM
low complexity region 717 722 N/A INTRINSIC
low complexity region 763 777 N/A INTRINSIC
low complexity region 804 822 N/A INTRINSIC
low complexity region 912 928 N/A INTRINSIC
low complexity region 934 948 N/A INTRINSIC
coiled coil region 1101 1131 N/A INTRINSIC
low complexity region 1162 1175 N/A INTRINSIC
Pfam:Ion_trans 1191 1425 4.3e-55 PFAM
Pfam:Ion_trans 1515 1725 5.3e-60 PFAM
Pfam:PKD_channel 1565 1732 4.7e-10 PFAM
Ca_chan_IQ 1863 1897 5.93e-13 SMART
low complexity region 2009 2025 N/A INTRINSIC
low complexity region 2037 2050 N/A INTRINSIC
low complexity region 2072 2088 N/A INTRINSIC
low complexity region 2097 2112 N/A INTRINSIC
low complexity region 2116 2130 N/A INTRINSIC
low complexity region 2140 2154 N/A INTRINSIC
low complexity region 2175 2186 N/A INTRINSIC
low complexity region 2244 2254 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000211821
Predicted Effect probably benign
Transcript: ENSMUST00000226546
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: This gene encodes an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes. Voltage-dependent calcium channels are multi-subunit complexes, comprised of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The isoform alpha-1E gives rise to R-type calcium currents and belongs to the high-voltage activated group. Calcium channels containing the alpha-1E subunit may be involved in the modulation of neuronal firing patterns, an important component of information processing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered R-type Ca2+ channels, increased timidity and body weight, impaired glucose tolerance, reduced locomotor activity, and lack of the cocaine stimulation of locomotor response. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(3) Targeted, other(3) Gene trapped(1)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T C 3: 146,356,716 (GRCm39) D64G possibly damaging Het
Amtn T C 5: 88,525,956 (GRCm39) L40P probably damaging Het
Ano6 A G 15: 95,792,342 (GRCm39) R90G probably damaging Het
Arfgef3 A C 10: 18,540,637 (GRCm39) probably null Het
Asxl3 C T 18: 22,658,445 (GRCm39) P2152S probably benign Het
Atp7b A T 8: 22,512,381 (GRCm39) V494E probably damaging Het
Bik T A 15: 83,428,409 (GRCm39) Y146N probably benign Het
C1qtnf7 A T 5: 43,766,436 (GRCm39) I12F possibly damaging Het
Ccdc168 A G 1: 44,095,890 (GRCm39) V1736A probably benign Het
Ccnj A G 19: 40,833,636 (GRCm39) E231G probably damaging Het
Cd101 T C 3: 100,901,012 (GRCm39) K1020R probably benign Het
Cdh6 C A 15: 13,044,860 (GRCm39) V421L probably benign Het
Cplane1 T C 15: 8,205,668 (GRCm39) S135P probably benign Het
Decr1 T C 4: 15,924,355 (GRCm39) probably null Het
Dmxl1 C T 18: 50,054,091 (GRCm39) P2566S probably damaging Het
Dock9 G A 14: 121,860,330 (GRCm39) P866L probably damaging Het
Epx A G 11: 87,759,452 (GRCm39) F546L probably damaging Het
Fat4 T A 3: 39,035,966 (GRCm39) M3206K probably benign Het
Fgb T C 3: 82,952,332 (GRCm39) D179G probably benign Het
Gbgt1 A G 2: 28,395,220 (GRCm39) D286G probably damaging Het
Gpn1 T A 5: 31,664,832 (GRCm39) S285R probably benign Het
Htt T A 5: 34,991,670 (GRCm39) Y1212N possibly damaging Het
Kcnj13 T C 1: 87,314,745 (GRCm39) K159R probably damaging Het
Ldb2 T A 5: 44,699,199 (GRCm39) I80F probably damaging Het
Macrod2 T A 2: 140,294,602 (GRCm39) N89K probably damaging Het
Mdga2 G A 12: 66,769,775 (GRCm39) R173C probably damaging Het
Mroh9 A G 1: 162,903,935 (GRCm39) F26L probably benign Het
Neil3 G T 8: 54,052,514 (GRCm39) N361K probably benign Het
Nepro A G 16: 44,551,720 (GRCm39) R193G probably damaging Het
Or52d3 T A 7: 104,229,447 (GRCm39) I198N probably damaging Het
Pclo A T 5: 14,731,113 (GRCm39) Q3205L unknown Het
Plekhm1 A T 11: 103,267,715 (GRCm39) I752N probably damaging Het
Podn T C 4: 107,878,614 (GRCm39) T273A possibly damaging Het
Prep T A 10: 44,973,597 (GRCm39) M235K probably benign Het
Ptprc A T 1: 137,999,993 (GRCm39) probably null Het
Reg2 A G 6: 78,384,625 (GRCm39) H119R possibly damaging Het
Rpe65 T C 3: 159,319,805 (GRCm39) V225A probably benign Het
Scn9a T C 2: 66,398,373 (GRCm39) D79G probably damaging Het
Slc25a23 G A 17: 57,360,804 (GRCm39) R9* probably null Het
Snai3 A G 8: 123,183,212 (GRCm39) L111P probably damaging Het
Stk38 A G 17: 29,218,981 (GRCm39) probably null Het
Stk38l A T 6: 146,668,269 (GRCm39) I115F possibly damaging Het
Tmco6 T A 18: 36,871,406 (GRCm39) probably null Het
Tollip A T 7: 141,452,451 (GRCm39) M1K probably null Het
Trim40 T C 17: 37,199,742 (GRCm39) Y112C possibly damaging Het
Ttc27 T A 17: 75,163,550 (GRCm39) Y719* probably null Het
Ubald1 T C 16: 4,697,584 (GRCm39) D6G probably damaging Het
Vmn2r59 A T 7: 41,693,171 (GRCm39) S476R probably benign Het
Wfdc3 C T 2: 164,576,178 (GRCm39) G38R possibly damaging Het
Zbtb21 C T 16: 97,753,161 (GRCm39) G402D probably damaging Het
Zfp84 A G 7: 29,475,911 (GRCm39) Y201C probably benign Het
Zswim2 T A 2: 83,770,028 (GRCm39) H62L probably damaging Het
Other mutations in Cacna1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Cacna1e APN 1 154,279,429 (GRCm39) missense probably damaging 0.99
IGL01086:Cacna1e APN 1 154,347,347 (GRCm39) missense probably benign 0.04
IGL01302:Cacna1e APN 1 154,319,653 (GRCm39) missense probably damaging 1.00
IGL01386:Cacna1e APN 1 154,348,123 (GRCm39) missense probably benign 0.18
IGL01573:Cacna1e APN 1 154,347,113 (GRCm39) missense probably benign
IGL01676:Cacna1e APN 1 154,288,196 (GRCm39) missense probably damaging 1.00
IGL01676:Cacna1e APN 1 154,274,222 (GRCm39) missense probably damaging 1.00
IGL01762:Cacna1e APN 1 154,347,119 (GRCm39) missense possibly damaging 0.78
IGL01801:Cacna1e APN 1 154,347,086 (GRCm39) missense probably null 0.00
IGL01895:Cacna1e APN 1 154,319,646 (GRCm39) missense probably damaging 1.00
IGL02391:Cacna1e APN 1 154,296,859 (GRCm39) missense probably damaging 1.00
IGL02399:Cacna1e APN 1 154,279,493 (GRCm39) missense probably damaging 1.00
IGL02659:Cacna1e APN 1 154,302,274 (GRCm39) missense probably damaging 1.00
IGL02686:Cacna1e APN 1 154,369,155 (GRCm39) missense probably damaging 1.00
IGL02838:Cacna1e APN 1 154,321,394 (GRCm39) missense probably damaging 1.00
IGL02958:Cacna1e APN 1 154,341,487 (GRCm39) missense probably damaging 1.00
IGL02981:Cacna1e APN 1 154,347,171 (GRCm39) missense probably benign 0.15
IGL03120:Cacna1e APN 1 154,319,627 (GRCm39) missense probably damaging 1.00
IGL03232:Cacna1e APN 1 154,369,104 (GRCm39) missense probably damaging 1.00
IGL03310:Cacna1e APN 1 154,317,997 (GRCm39) missense probably damaging 1.00
IGL03342:Cacna1e APN 1 154,342,690 (GRCm39) critical splice donor site probably null
bezoar UTSW 1 154,312,300 (GRCm39) splice site probably null
hairball UTSW 1 154,355,051 (GRCm39) missense probably damaging 0.97
N/A - 535:Cacna1e UTSW 1 154,341,510 (GRCm39) missense probably damaging 1.00
R0122:Cacna1e UTSW 1 154,319,647 (GRCm39) missense probably damaging 1.00
R0143:Cacna1e UTSW 1 154,324,693 (GRCm39) splice site probably null
R0314:Cacna1e UTSW 1 154,317,997 (GRCm39) missense probably damaging 1.00
R0366:Cacna1e UTSW 1 154,291,884 (GRCm39) missense probably benign 0.03
R0626:Cacna1e UTSW 1 154,364,563 (GRCm39) missense probably damaging 0.99
R0739:Cacna1e UTSW 1 154,318,024 (GRCm39) missense probably damaging 0.97
R1272:Cacna1e UTSW 1 154,320,714 (GRCm39) missense probably damaging 1.00
R1300:Cacna1e UTSW 1 154,274,419 (GRCm39) missense probably benign
R1340:Cacna1e UTSW 1 154,348,403 (GRCm39) missense probably damaging 1.00
R1440:Cacna1e UTSW 1 154,437,552 (GRCm39) missense possibly damaging 0.63
R1449:Cacna1e UTSW 1 154,361,408 (GRCm39) critical splice donor site probably null
R1538:Cacna1e UTSW 1 154,437,504 (GRCm39) missense probably damaging 0.99
R1542:Cacna1e UTSW 1 154,353,525 (GRCm39) missense probably benign 0.01
R1560:Cacna1e UTSW 1 154,296,850 (GRCm39) nonsense probably null
R1748:Cacna1e UTSW 1 154,362,315 (GRCm39) missense possibly damaging 0.92
R1749:Cacna1e UTSW 1 154,319,746 (GRCm39) missense probably damaging 1.00
R1912:Cacna1e UTSW 1 154,312,195 (GRCm39) missense probably damaging 1.00
R1968:Cacna1e UTSW 1 154,576,240 (GRCm39) missense probably damaging 1.00
R1993:Cacna1e UTSW 1 154,353,563 (GRCm39) missense probably damaging 0.97
R1994:Cacna1e UTSW 1 154,353,563 (GRCm39) missense probably damaging 0.97
R2191:Cacna1e UTSW 1 154,319,591 (GRCm39) missense probably damaging 1.00
R2291:Cacna1e UTSW 1 154,279,429 (GRCm39) missense probably damaging 0.99
R2417:Cacna1e UTSW 1 154,347,939 (GRCm39) missense probably damaging 1.00
R3608:Cacna1e UTSW 1 154,291,831 (GRCm39) missense probably benign 0.08
R3757:Cacna1e UTSW 1 154,509,442 (GRCm39) missense probably damaging 0.97
R3890:Cacna1e UTSW 1 154,359,299 (GRCm39) missense probably damaging 1.00
R4015:Cacna1e UTSW 1 154,358,331 (GRCm39) missense probably damaging 1.00
R4088:Cacna1e UTSW 1 154,287,929 (GRCm39) splice site probably null
R4275:Cacna1e UTSW 1 154,369,071 (GRCm39) missense probably damaging 1.00
R4282:Cacna1e UTSW 1 154,302,296 (GRCm39) missense probably benign 0.04
R4297:Cacna1e UTSW 1 154,274,477 (GRCm39) missense probably benign 0.37
R4356:Cacna1e UTSW 1 154,319,727 (GRCm39) missense probably damaging 1.00
R4510:Cacna1e UTSW 1 154,437,579 (GRCm39) missense probably damaging 1.00
R4511:Cacna1e UTSW 1 154,437,579 (GRCm39) missense probably damaging 1.00
R4577:Cacna1e UTSW 1 154,277,773 (GRCm39) missense possibly damaging 0.92
R4590:Cacna1e UTSW 1 154,312,265 (GRCm39) missense possibly damaging 0.87
R4601:Cacna1e UTSW 1 154,347,359 (GRCm39) missense probably benign
R4622:Cacna1e UTSW 1 154,347,311 (GRCm39) missense possibly damaging 0.81
R4626:Cacna1e UTSW 1 154,358,294 (GRCm39) splice site probably null
R4694:Cacna1e UTSW 1 154,313,012 (GRCm39) critical splice donor site probably null
R4727:Cacna1e UTSW 1 154,312,214 (GRCm39) nonsense probably null
R4839:Cacna1e UTSW 1 154,296,804 (GRCm39) missense probably damaging 1.00
R4851:Cacna1e UTSW 1 154,312,300 (GRCm39) splice site probably null
R4894:Cacna1e UTSW 1 154,364,551 (GRCm39) nonsense probably null
R4934:Cacna1e UTSW 1 154,357,380 (GRCm39) nonsense probably null
R4979:Cacna1e UTSW 1 154,289,739 (GRCm39) missense probably damaging 1.00
R5077:Cacna1e UTSW 1 154,437,475 (GRCm39) critical splice donor site probably null
R5128:Cacna1e UTSW 1 154,277,767 (GRCm39) missense probably damaging 0.98
R5214:Cacna1e UTSW 1 154,577,110 (GRCm39) missense possibly damaging 0.93
R5274:Cacna1e UTSW 1 154,576,250 (GRCm39) missense probably damaging 0.98
R5388:Cacna1e UTSW 1 154,353,542 (GRCm39) missense probably damaging 1.00
R5416:Cacna1e UTSW 1 154,341,525 (GRCm39) missense probably damaging 1.00
R5469:Cacna1e UTSW 1 154,319,683 (GRCm39) missense probably damaging 1.00
R5475:Cacna1e UTSW 1 154,601,455 (GRCm39) missense possibly damaging 0.53
R5607:Cacna1e UTSW 1 154,347,086 (GRCm39) missense probably benign 0.00
R5615:Cacna1e UTSW 1 154,287,916 (GRCm39) missense probably damaging 1.00
R5616:Cacna1e UTSW 1 154,317,940 (GRCm39) missense probably damaging 1.00
R5627:Cacna1e UTSW 1 154,511,604 (GRCm39) missense probably damaging 0.98
R5707:Cacna1e UTSW 1 154,509,463 (GRCm39) missense probably damaging 1.00
R5756:Cacna1e UTSW 1 154,347,383 (GRCm39) missense probably benign 0.00
R5893:Cacna1e UTSW 1 154,313,069 (GRCm39) missense probably damaging 1.00
R6117:Cacna1e UTSW 1 154,437,537 (GRCm39) missense possibly damaging 0.68
R6134:Cacna1e UTSW 1 154,577,037 (GRCm39) missense probably damaging 1.00
R6190:Cacna1e UTSW 1 154,362,316 (GRCm39) missense possibly damaging 0.47
R6279:Cacna1e UTSW 1 154,301,678 (GRCm39) missense probably benign 0.38
R6295:Cacna1e UTSW 1 154,317,919 (GRCm39) missense probably damaging 0.98
R6300:Cacna1e UTSW 1 154,301,678 (GRCm39) missense probably benign 0.38
R6320:Cacna1e UTSW 1 154,317,270 (GRCm39) missense possibly damaging 0.76
R6375:Cacna1e UTSW 1 154,355,051 (GRCm39) missense probably damaging 0.97
R6842:Cacna1e UTSW 1 154,358,863 (GRCm39) missense probably damaging 1.00
R7023:Cacna1e UTSW 1 154,601,439 (GRCm39) missense probably null 0.85
R7081:Cacna1e UTSW 1 154,576,129 (GRCm39) missense possibly damaging 0.82
R7085:Cacna1e UTSW 1 154,349,492 (GRCm39) splice site probably null
R7108:Cacna1e UTSW 1 154,344,741 (GRCm39) frame shift probably null
R7142:Cacna1e UTSW 1 154,288,230 (GRCm39) missense probably damaging 1.00
R7250:Cacna1e UTSW 1 154,576,235 (GRCm39) missense possibly damaging 0.93
R7332:Cacna1e UTSW 1 154,601,547 (GRCm39) missense possibly damaging 0.89
R7410:Cacna1e UTSW 1 154,347,980 (GRCm39) missense probably benign 0.13
R7502:Cacna1e UTSW 1 154,344,734 (GRCm39) missense probably null 0.35
R7556:Cacna1e UTSW 1 154,348,419 (GRCm39) missense probably benign 0.28
R7563:Cacna1e UTSW 1 154,347,162 (GRCm39) missense probably benign 0.00
R7573:Cacna1e UTSW 1 154,601,911 (GRCm39) intron probably benign
R7689:Cacna1e UTSW 1 154,274,549 (GRCm39) missense probably benign 0.01
R7699:Cacna1e UTSW 1 154,319,674 (GRCm39) missense probably damaging 1.00
R7744:Cacna1e UTSW 1 154,341,538 (GRCm39) missense probably damaging 1.00
R7754:Cacna1e UTSW 1 154,288,863 (GRCm39) missense probably damaging 0.97
R7787:Cacna1e UTSW 1 154,358,314 (GRCm39) missense probably damaging 0.98
R7818:Cacna1e UTSW 1 154,274,152 (GRCm39) missense probably damaging 1.00
R7838:Cacna1e UTSW 1 154,347,149 (GRCm39) missense probably benign 0.08
R7849:Cacna1e UTSW 1 154,509,464 (GRCm39) missense probably damaging 1.00
R8011:Cacna1e UTSW 1 154,341,568 (GRCm39) missense probably benign 0.01
R8094:Cacna1e UTSW 1 154,437,516 (GRCm39) missense probably damaging 1.00
R8162:Cacna1e UTSW 1 154,577,313 (GRCm39) splice site probably null
R8202:Cacna1e UTSW 1 154,274,195 (GRCm39) missense probably benign
R8280:Cacna1e UTSW 1 154,344,839 (GRCm39) missense probably damaging 0.97
R8354:Cacna1e UTSW 1 154,274,314 (GRCm39) missense probably damaging 1.00
R8385:Cacna1e UTSW 1 154,319,687 (GRCm39) missense probably damaging 0.98
R8532:Cacna1e UTSW 1 154,341,510 (GRCm39) missense probably damaging 1.00
R8902:Cacna1e UTSW 1 154,349,632 (GRCm39) missense probably benign 0.01
R8926:Cacna1e UTSW 1 154,577,080 (GRCm39) missense possibly damaging 0.84
R8947:Cacna1e UTSW 1 154,277,896 (GRCm39) missense probably benign 0.10
R9094:Cacna1e UTSW 1 154,355,064 (GRCm39) missense possibly damaging 0.93
R9126:Cacna1e UTSW 1 154,343,510 (GRCm39) missense probably benign 0.01
R9175:Cacna1e UTSW 1 154,274,314 (GRCm39) missense probably damaging 1.00
R9286:Cacna1e UTSW 1 154,288,845 (GRCm39) missense probably damaging 1.00
R9377:Cacna1e UTSW 1 154,361,458 (GRCm39) missense possibly damaging 0.88
R9452:Cacna1e UTSW 1 154,289,720 (GRCm39) critical splice donor site probably null
R9463:Cacna1e UTSW 1 154,357,411 (GRCm39) missense probably damaging 1.00
R9513:Cacna1e UTSW 1 154,318,033 (GRCm39) missense probably damaging 1.00
R9534:Cacna1e UTSW 1 154,320,693 (GRCm39) missense possibly damaging 0.65
R9562:Cacna1e UTSW 1 154,283,486 (GRCm39) missense probably benign 0.01
RF008:Cacna1e UTSW 1 154,317,882 (GRCm39) missense probably damaging 1.00
X0062:Cacna1e UTSW 1 154,288,238 (GRCm39) missense probably damaging 1.00
Z1176:Cacna1e UTSW 1 154,511,596 (GRCm39) missense probably damaging 0.98
Z1177:Cacna1e UTSW 1 154,318,038 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGGCATGGAATAGCAAGTC -3'
(R):5'- TGGCATTTGGCATCAGTCCC -3'

Sequencing Primer
(F):5'- GAGGTAAAACCAGGTCAC -3'
(R):5'- CCACAAATGAGCTTTAGTGAGAAGC -3'
Posted On 2018-09-12