Incidental Mutation 'IGL02838:Cacna1e'
ID 361741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cacna1e
Ensembl Gene ENSMUSG00000004110
Gene Name calcium channel, voltage-dependent, R type, alpha 1E subunit
Synonyms Cav2.3, Cchra1, alpha1E
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL02838
Quality Score
Status
Chromosome 1
Chromosomal Location 154266477-154760247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154321394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 1222 (C1222R)
Ref Sequence ENSEMBL: ENSMUSP00000148507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004214] [ENSMUST00000187541] [ENSMUST00000211821]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000004214
AA Change: C976R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004214
Gene: ENSMUSG00000004110
AA Change: C976R

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 damaging
Transcript: ENSMUST00000187541
AA Change: C1284R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140937
Gene: ENSMUSG00000004110
AA Change: C1284R

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 damaging
Transcript: ENSMUST00000211821
AA Change: C1222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl4a T C 12: 40,086,303 (GRCm39) E148G probably benign Het
AW551984 A T 9: 39,505,939 (GRCm39) F419L probably damaging Het
Brpf3 G A 17: 29,054,758 (GRCm39) R1100Q probably benign Het
Cacna2d3 T A 14: 29,022,785 (GRCm39) probably null Het
Ccdc146 T A 5: 21,502,567 (GRCm39) M775L probably benign Het
Ccdc60 A G 5: 116,272,169 (GRCm39) S422P probably damaging Het
Cdh10 A T 15: 18,899,849 (GRCm39) N59Y probably damaging Het
Cfap61 T A 2: 145,789,084 (GRCm39) C29* probably null Het
Fgd5 T A 6: 91,964,655 (GRCm39) M138K probably benign Het
Gpr107 G A 2: 31,104,329 (GRCm39) G545S probably benign Het
Greb1l G A 18: 10,560,430 (GRCm39) A1897T probably damaging Het
Hcls1 A G 16: 36,782,781 (GRCm39) D439G probably damaging Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Itga5 C T 15: 103,260,036 (GRCm39) A619T probably damaging Het
Maml3 A G 3: 51,597,511 (GRCm39) F412L probably damaging Het
Mis18bp1 T C 12: 65,183,600 (GRCm39) Y924C probably damaging Het
Mtss1 T C 15: 58,953,364 (GRCm39) I5V probably benign Het
Ninl A T 2: 150,797,631 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Nts C T 10: 102,318,290 (GRCm39) V138M probably damaging Het
Or4q3 A G 14: 50,583,312 (GRCm39) S165P probably damaging Het
Or5b116 T A 19: 13,423,299 (GRCm39) S308T probably benign Het
Pard3 A G 8: 128,153,128 (GRCm39) R900G probably damaging Het
Rbfa T C 18: 80,236,050 (GRCm39) H233R probably benign Het
Rundc3a T A 11: 102,288,521 (GRCm39) probably benign Het
Setdb1 G T 3: 95,244,579 (GRCm39) probably null Het
Synpo T A 18: 60,736,872 (GRCm39) N358I probably damaging Het
Tnxb A T 17: 34,908,606 (GRCm39) T1543S possibly damaging Het
Ugt1a8 T A 1: 88,016,399 (GRCm39) Y271N probably benign Het
Vmn2r105 A C 17: 20,447,847 (GRCm39) F326V probably damaging Het
Vps13c G A 9: 67,883,133 (GRCm39) R3560H probably damaging Het
Vps13d C T 4: 144,801,595 (GRCm39) R3510Q probably benign Het
Zcchc8 A T 5: 123,857,546 (GRCm39) probably benign 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
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
R6830:Cacna1e UTSW 1 154,289,720 (GRCm39) critical splice donor site probably null
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
Posted On 2015-12-18