Incidental Mutation 'R8947:Cacna1e'
ID 681340
Institutional Source Beutler Lab
Gene Symbol Cacna1e
Ensembl Gene ENSMUSG00000004110
Gene Name calcium channel, voltage-dependent, R type, alpha 1E subunit
Synonyms Cchra1, alpha1E, Cav2.3
MMRRC Submission 068785-MU
Accession Numbers

Genbank: NM_009782; MGI: 106217

Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R8947 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 154390731-154884501 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 154402150 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 2019 (S2019T)
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 benign
Transcript: ENSMUST00000004214
AA Change: S1730T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000004214
Gene: ENSMUSG00000004110
AA Change: S1730T

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 benign
Transcript: ENSMUST00000187541
AA Change: S2038T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000140937
Gene: ENSMUSG00000004110
AA Change: S2038T

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 benign
Transcript: ENSMUST00000211821
AA Change: S2019T

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (93/94)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T A 4: 42,972,097 S477T probably benign Het
4930562C15Rik T A 16: 4,847,428 F141L unknown Het
A2ml1 G T 6: 128,552,256 N974K probably damaging Het
Abcg8 T C 17: 84,691,818 L114P probably damaging Het
Akt3 A T 1: 177,131,079 W22R probably damaging Het
Ank2 C T 3: 126,942,747 probably benign Het
Ap1g1 C T 8: 109,863,332 probably benign Het
Arhgef19 T A 4: 141,246,307 V35E possibly damaging Het
Baz2b T C 2: 59,948,239 D759G probably benign Het
BC051665 C A 13: 60,782,190 G320W probably damaging Het
Bche T A 3: 73,701,428 T222S probably damaging Het
C8a T C 4: 104,822,129 D444G probably damaging Het
Carm1 T C 9: 21,586,453 I373T probably damaging Het
Ccdc39 T C 3: 33,815,460 probably benign Het
Clic5 A T 17: 44,242,261 probably benign Het
Cntn3 A G 6: 102,437,903 F28L probably damaging Het
Col6a5 C T 9: 105,945,634 E175K unknown Het
Cpb2 T C 14: 75,278,187 Y352H probably damaging Het
Cpeb3 A T 19: 37,174,966 D3E probably damaging Het
Ctsl T C 13: 64,367,026 T155A probably damaging Het
Cygb C T 11: 116,649,819 A114T probably damaging Het
Cyp11a1 T C 9: 58,017,455 V17A probably benign Het
Dhcr7 T G 7: 143,847,222 I374S probably damaging Het
Dhx36 T C 3: 62,472,966 R807G probably benign Het
Diaph1 A T 18: 37,853,701 V1077E probably damaging Het
Ehmt2 A G 17: 34,908,304 E131G possibly damaging Het
Evpl A G 11: 116,221,338 I1842T probably damaging Het
Fastk C A 5: 24,441,651 C294F probably damaging Het
Fndc5 T C 4: 129,137,136 C20R probably benign Het
Gm7298 C A 6: 121,780,594 Q1053K possibly damaging Het
Gm8362 A G 14: 6,773,326 probably null Het
Gmps T A 3: 63,998,677 I465N probably damaging Het
Heatr4 T G 12: 83,954,657 M904L probably benign Het
Hhip T A 8: 80,045,156 D175V probably damaging Het
Hmcn2 G A 2: 31,388,208 V1641M probably damaging Het
Hoxa5 T G 6: 52,202,796 T200P probably damaging Het
Ift122 C A 6: 115,924,407 A1050D probably benign Het
Igf2bp2 C A 16: 22,078,723 E247* probably null Het
Irak1bp1 T A 9: 82,846,793 L259H probably damaging Het
Irgm1 G A 11: 48,868,748 probably benign Het
Itih1 A T 14: 30,935,909 probably benign Het
Itpk1 A T 12: 102,570,323 C355S probably benign Het
Kcng4 T C 8: 119,625,713 E486G possibly damaging Het
Kif20b T C 19: 34,941,229 V671A possibly damaging Het
Kif28 T G 1: 179,716,755 I345L possibly damaging Het
Klri2 C G 6: 129,733,779 probably null Het
Kntc1 T C 5: 123,786,978 V1118A probably benign Het
Lpin2 T A 17: 71,204,876 I34N probably benign Het
Lrch3 T A 16: 32,981,829 V264D possibly damaging Het
Lrrk2 C T 15: 91,702,270 Q430* probably null Het
Map10 T G 8: 125,671,100 S411A probably benign Het
Map1a A T 2: 121,304,969 I2089F probably benign Het
Med12l T A 3: 59,077,022 probably benign Het
Mypn T A 10: 63,169,377 Q317L probably damaging Het
Ncan T A 8: 70,102,521 I999F probably damaging Het
Nmrk2 C A 10: 81,199,705 R134L probably damaging Het
Olfr1290 C T 2: 111,489,697 V154I probably benign Het
Olfr181 T C 16: 58,926,070 N167S probably benign Het
Olfr5 A G 7: 6,480,247 V303A probably benign Het
Olfr583 T A 7: 103,052,108 V270E probably damaging Het
Olfr905 T A 9: 38,473,389 I214N probably damaging Het
Osbpl1a A G 18: 12,766,801 probably null Het
Pcdh1 T C 18: 38,199,020 D310G possibly damaging Het
Pkn2 C T 3: 142,811,913 probably null Het
Plch1 T A 3: 63,784,126 M31L probably damaging Het
Polg2 A G 11: 106,768,344 F448L probably damaging Het
Ppp4r3b A G 11: 29,200,758 T475A possibly damaging Het
Prdm13 C T 4: 21,678,817 E558K probably damaging Het
Prdm9 T A 17: 15,544,008 I837F possibly damaging Het
R3hdm1 T A 1: 128,174,957 M125K possibly damaging Het
Rbm39 A T 2: 156,148,356 V468E probably damaging Het
Rnasel T A 1: 153,755,031 V431E probably damaging Het
Rps2 T A 17: 24,721,253 D220E probably benign Het
Rsf1 T C 7: 97,681,852 probably benign Het
Rsph10b G T 5: 143,977,134 A710S probably benign Het
Sez6 A T 11: 77,953,527 T59S probably damaging Het
Sf3b1 A T 1: 55,000,285 V727E probably damaging Het
Slit2 T G 5: 48,249,798 L857R probably damaging Het
Sspo T G 6: 48,448,570 C42G probably damaging Het
Strc C T 2: 121,370,989 D1245N probably benign Het
Supv3l1 T A 10: 62,432,339 T576S probably benign Het
Tecrl C T 5: 83,313,307 R101Q probably benign Het
Tmeff2 A G 1: 51,181,793 Y309C probably damaging Het
Tmem43 T A 6: 91,485,380 W316R probably damaging Het
Tmigd3 T C 3: 105,914,238 V141A probably benign Het
Trav9-1 T C 14: 53,488,127 F8L probably benign Het
Trbv5 T G 6: 41,062,707 F82C probably damaging Het
Ubtf T C 11: 102,314,976 N41S possibly damaging Het
Uggt1 T C 1: 36,158,148 T1225A probably benign Het
Vmn1r72 T C 7: 11,669,880 R214G possibly damaging Het
Vmn2r12 T G 5: 109,086,656 K563N possibly damaging Het
Vmn2r83 T C 10: 79,469,039 S28P probably benign Het
Vwa8 T G 14: 79,201,112 L1875R probably damaging Het
Xrcc6 T A 15: 82,029,665 V64E probably damaging Het
Zfp292 T C 4: 34,811,835 Y403C probably damaging Het
Zfp955a A T 17: 33,241,981 H392Q probably damaging Het
Zfyve19 T C 2: 119,210,809 S69P probably damaging Het
Other mutations in Cacna1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Cacna1e APN 1 154403683 missense probably damaging 0.99
IGL01086:Cacna1e APN 1 154471601 missense probably benign 0.04
IGL01302:Cacna1e APN 1 154443907 missense probably damaging 1.00
IGL01386:Cacna1e APN 1 154472377 missense probably benign 0.18
IGL01573:Cacna1e APN 1 154471367 missense probably benign
IGL01676:Cacna1e APN 1 154398476 missense probably damaging 1.00
IGL01676:Cacna1e APN 1 154412450 missense probably damaging 1.00
IGL01762:Cacna1e APN 1 154471373 missense possibly damaging 0.78
IGL01801:Cacna1e APN 1 154471340 missense probably null 0.00
IGL01895:Cacna1e APN 1 154443900 missense probably damaging 1.00
IGL02391:Cacna1e APN 1 154421113 missense probably damaging 1.00
IGL02399:Cacna1e APN 1 154403747 missense probably damaging 1.00
IGL02659:Cacna1e APN 1 154426528 missense probably damaging 1.00
IGL02686:Cacna1e APN 1 154493409 missense probably damaging 1.00
IGL02838:Cacna1e APN 1 154445648 missense probably damaging 1.00
IGL02958:Cacna1e APN 1 154465741 missense probably damaging 1.00
IGL02981:Cacna1e APN 1 154471425 missense probably benign 0.15
IGL03120:Cacna1e APN 1 154443881 missense probably damaging 1.00
IGL03232:Cacna1e APN 1 154493358 missense probably damaging 1.00
IGL03310:Cacna1e APN 1 154442251 missense probably damaging 1.00
IGL03342:Cacna1e APN 1 154466944 critical splice donor site probably null
bezoar UTSW 1 154436554 splice site probably null
hairball UTSW 1 154479305 missense probably damaging 0.97
N/A - 535:Cacna1e UTSW 1 154465764 missense probably damaging 1.00
R0122:Cacna1e UTSW 1 154443901 missense probably damaging 1.00
R0143:Cacna1e UTSW 1 154448947 splice site probably null
R0314:Cacna1e UTSW 1 154442251 missense probably damaging 1.00
R0366:Cacna1e UTSW 1 154416138 missense probably benign 0.03
R0626:Cacna1e UTSW 1 154488817 missense probably damaging 0.99
R0739:Cacna1e UTSW 1 154442278 missense probably damaging 0.97
R1272:Cacna1e UTSW 1 154444968 missense probably damaging 1.00
R1300:Cacna1e UTSW 1 154398673 missense probably benign
R1340:Cacna1e UTSW 1 154472657 missense probably damaging 1.00
R1440:Cacna1e UTSW 1 154561806 missense possibly damaging 0.63
R1449:Cacna1e UTSW 1 154485662 critical splice donor site probably null
R1538:Cacna1e UTSW 1 154561758 missense probably damaging 0.99
R1542:Cacna1e UTSW 1 154477779 missense probably benign 0.01
R1560:Cacna1e UTSW 1 154421104 nonsense probably null
R1748:Cacna1e UTSW 1 154486569 missense possibly damaging 0.92
R1749:Cacna1e UTSW 1 154444000 missense probably damaging 1.00
R1912:Cacna1e UTSW 1 154436449 missense probably damaging 1.00
R1968:Cacna1e UTSW 1 154700494 missense probably damaging 1.00
R1993:Cacna1e UTSW 1 154477817 missense probably damaging 0.97
R1994:Cacna1e UTSW 1 154477817 missense probably damaging 0.97
R2191:Cacna1e UTSW 1 154443845 missense probably damaging 1.00
R2291:Cacna1e UTSW 1 154403683 missense probably damaging 0.99
R2417:Cacna1e UTSW 1 154472193 missense probably damaging 1.00
R3608:Cacna1e UTSW 1 154416085 missense probably benign 0.08
R3757:Cacna1e UTSW 1 154633696 missense probably damaging 0.97
R3890:Cacna1e UTSW 1 154483553 missense probably damaging 1.00
R4015:Cacna1e UTSW 1 154482585 missense probably damaging 1.00
R4088:Cacna1e UTSW 1 154412183 splice site probably null
R4275:Cacna1e UTSW 1 154493325 missense probably damaging 1.00
R4282:Cacna1e UTSW 1 154426550 missense probably benign 0.04
R4297:Cacna1e UTSW 1 154398731 missense probably benign 0.37
R4356:Cacna1e UTSW 1 154443981 missense probably damaging 1.00
R4510:Cacna1e UTSW 1 154561833 missense probably damaging 1.00
R4511:Cacna1e UTSW 1 154561833 missense probably damaging 1.00
R4577:Cacna1e UTSW 1 154402027 missense possibly damaging 0.92
R4590:Cacna1e UTSW 1 154436519 missense possibly damaging 0.87
R4601:Cacna1e UTSW 1 154471613 missense probably benign
R4622:Cacna1e UTSW 1 154471565 missense possibly damaging 0.81
R4626:Cacna1e UTSW 1 154482548 splice site probably null
R4694:Cacna1e UTSW 1 154437266 critical splice donor site probably null
R4727:Cacna1e UTSW 1 154436468 nonsense probably null
R4839:Cacna1e UTSW 1 154421058 missense probably damaging 1.00
R4851:Cacna1e UTSW 1 154436554 splice site probably null
R4894:Cacna1e UTSW 1 154488805 nonsense probably null
R4934:Cacna1e UTSW 1 154481634 nonsense probably null
R4979:Cacna1e UTSW 1 154413993 missense probably damaging 1.00
R5077:Cacna1e UTSW 1 154561729 critical splice donor site probably null
R5128:Cacna1e UTSW 1 154402021 missense probably damaging 0.98
R5214:Cacna1e UTSW 1 154701364 missense possibly damaging 0.93
R5274:Cacna1e UTSW 1 154700504 missense probably damaging 0.98
R5388:Cacna1e UTSW 1 154477796 missense probably damaging 1.00
R5416:Cacna1e UTSW 1 154465779 missense probably damaging 1.00
R5469:Cacna1e UTSW 1 154443937 missense probably damaging 1.00
R5475:Cacna1e UTSW 1 154725709 missense possibly damaging 0.53
R5607:Cacna1e UTSW 1 154471340 missense probably benign 0.00
R5615:Cacna1e UTSW 1 154412170 missense probably damaging 1.00
R5616:Cacna1e UTSW 1 154442194 missense probably damaging 1.00
R5627:Cacna1e UTSW 1 154635858 missense probably damaging 0.98
R5707:Cacna1e UTSW 1 154633717 missense probably damaging 1.00
R5756:Cacna1e UTSW 1 154471637 missense probably benign 0.00
R5893:Cacna1e UTSW 1 154437323 missense probably damaging 1.00
R6117:Cacna1e UTSW 1 154561791 missense possibly damaging 0.68
R6134:Cacna1e UTSW 1 154701291 missense probably damaging 1.00
R6190:Cacna1e UTSW 1 154486570 missense possibly damaging 0.47
R6279:Cacna1e UTSW 1 154425932 missense probably benign 0.38
R6295:Cacna1e UTSW 1 154442173 missense probably damaging 0.98
R6300:Cacna1e UTSW 1 154425932 missense probably benign 0.38
R6320:Cacna1e UTSW 1 154441524 missense possibly damaging 0.76
R6375:Cacna1e UTSW 1 154479305 missense probably damaging 0.97
R6830:Cacna1e UTSW 1 154413974 critical splice donor site probably null
R6842:Cacna1e UTSW 1 154483117 missense probably damaging 1.00
R7023:Cacna1e UTSW 1 154725693 missense probably null 0.85
R7081:Cacna1e UTSW 1 154700383 missense possibly damaging 0.82
R7085:Cacna1e UTSW 1 154473746 splice site probably null
R7108:Cacna1e UTSW 1 154468995 frame shift probably null
R7142:Cacna1e UTSW 1 154412484 missense probably damaging 1.00
R7250:Cacna1e UTSW 1 154700489 missense possibly damaging 0.93
R7332:Cacna1e UTSW 1 154725801 missense possibly damaging 0.89
R7410:Cacna1e UTSW 1 154472234 missense probably benign 0.13
R7502:Cacna1e UTSW 1 154468988 missense probably null 0.35
R7556:Cacna1e UTSW 1 154472673 missense probably benign 0.28
R7563:Cacna1e UTSW 1 154471416 missense probably benign 0.00
R7573:Cacna1e UTSW 1 154726165 intron probably benign
R7689:Cacna1e UTSW 1 154398803 missense probably benign 0.01
R7699:Cacna1e UTSW 1 154443928 missense probably damaging 1.00
R7744:Cacna1e UTSW 1 154465792 missense probably damaging 1.00
R7754:Cacna1e UTSW 1 154413117 missense probably damaging 0.97
R7787:Cacna1e UTSW 1 154482568 missense probably damaging 0.98
R7818:Cacna1e UTSW 1 154398406 missense probably damaging 1.00
R7838:Cacna1e UTSW 1 154471403 missense probably benign 0.08
R7849:Cacna1e UTSW 1 154633718 missense probably damaging 1.00
R8011:Cacna1e UTSW 1 154465822 missense probably benign 0.01
R8094:Cacna1e UTSW 1 154561770 missense probably damaging 1.00
R8162:Cacna1e UTSW 1 154701567 splice site probably null
R8202:Cacna1e UTSW 1 154398449 missense probably benign
R8280:Cacna1e UTSW 1 154469093 missense probably damaging 0.97
R8354:Cacna1e UTSW 1 154398568 missense probably damaging 1.00
R8385:Cacna1e UTSW 1 154443941 missense probably damaging 0.98
R8532:Cacna1e UTSW 1 154465764 missense probably damaging 1.00
R8902:Cacna1e UTSW 1 154473886 missense probably benign 0.01
R8926:Cacna1e UTSW 1 154701334 missense possibly damaging 0.84
R9094:Cacna1e UTSW 1 154479318 missense possibly damaging 0.93
R9126:Cacna1e UTSW 1 154467764 missense probably benign 0.01
R9175:Cacna1e UTSW 1 154398568 missense probably damaging 1.00
R9286:Cacna1e UTSW 1 154413099 missense probably damaging 1.00
R9377:Cacna1e UTSW 1 154485712 missense possibly damaging 0.88
R9452:Cacna1e UTSW 1 154413974 critical splice donor site probably null
R9463:Cacna1e UTSW 1 154481665 missense probably damaging 1.00
R9513:Cacna1e UTSW 1 154442287 missense probably damaging 1.00
R9534:Cacna1e UTSW 1 154444947 missense possibly damaging 0.65
R9562:Cacna1e UTSW 1 154407740 missense probably benign 0.01
RF008:Cacna1e UTSW 1 154442136 missense probably damaging 1.00
X0062:Cacna1e UTSW 1 154412492 missense probably damaging 1.00
Z1176:Cacna1e UTSW 1 154635850 missense probably damaging 0.98
Z1177:Cacna1e UTSW 1 154442292 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGCTAGAGGCTCAACTTC -3'
(R):5'- TTGATCTGCCTGGAGAAGCC -3'

Sequencing Primer
(F):5'- AGAGGCTCAACTTCTCTATATTCAC -3'
(R):5'- AGGGCACTTCAGTCAGTTCAG -3'
Posted On 2021-08-31