Incidental Mutation 'R7483:Nalcn'
ID 579957
Institutional Source Beutler Lab
Gene Symbol Nalcn
Ensembl Gene ENSMUSG00000000197
Gene Name sodium leak channel, non-selective
Synonyms Vgcnl1, A530023G15Rik
MMRRC Submission 045557-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7483 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 123514046-123864556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123551499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1036 (V1036A)
Ref Sequence ENSEMBL: ENSMUSP00000000201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000201]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000000201
AA Change: V1036A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: V1036A

DomainStartEndE-ValueType
Pfam:Ion_trans 35 333 2.8e-37 PFAM
low complexity region 338 348 N/A INTRINSIC
Pfam:Ion_trans 383 609 5.7e-34 PFAM
coiled coil region 796 830 N/A INTRINSIC
Pfam:Ion_trans 885 1166 2.4e-42 PFAM
Pfam:Ion_trans 1209 1458 6.9e-30 PFAM
low complexity region 1548 1560 N/A INTRINSIC
low complexity region 1634 1649 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NALCN forms a voltage-independent, nonselective, noninactivating cation channel permeable to Na+, K+, and Ca(2+). It is responsible for the neuronal background sodium leak conductance (Lu et al., 2007 [PubMed 17448995]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal breathing at birth and die within 24 hours. Mice homozygous for a gain of function ENU mutation exhibit reduced the total amount and episode duration of REMS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,794,075 (GRCm39) probably null Het
Ahnak T C 19: 8,982,186 (GRCm39) S1157P probably damaging Het
Akap12 T G 10: 4,303,967 (GRCm39) V364G probably benign Het
Ankrd17 A G 5: 90,447,855 (GRCm39) S229P probably benign Het
Apof A T 10: 128,104,636 (GRCm39) Y5F probably benign Het
Arhgap24 T A 5: 102,989,174 (GRCm39) M94K probably benign Het
Ash2l G T 8: 26,312,798 (GRCm39) D479E probably damaging Het
Atp8a2 A T 14: 60,245,824 (GRCm39) C623S probably benign Het
Bmper T A 9: 23,395,238 (GRCm39) N656K probably benign Het
Braf T C 6: 39,604,772 (GRCm39) I619V possibly damaging Het
Brwd1 T C 16: 95,857,373 (GRCm39) R396G probably damaging Het
Car7 A T 8: 105,276,216 (GRCm39) T234S probably benign Het
Catsper4 A T 4: 133,945,552 (GRCm39) V169E probably damaging Het
Cemip T G 7: 83,647,784 (GRCm39) I99L probably damaging Het
Chrna7 C A 7: 62,754,738 (GRCm39) V290L probably damaging Het
Clip1 A T 5: 123,755,447 (GRCm39) D944E probably benign Het
Cplane2 A G 4: 140,947,153 (GRCm39) D178G probably damaging Het
Cyp2c68 T C 19: 39,677,581 (GRCm39) T470A probably benign Het
Dmbx1 G T 4: 115,780,908 (GRCm39) A31D probably damaging Het
Dnah7b T C 1: 46,214,579 (GRCm39) F1115L probably damaging Het
Dock10 T C 1: 80,493,283 (GRCm39) I1897V probably benign Het
Efcab3 A G 11: 105,000,112 (GRCm39) I234V probably benign Het
Eid2b T G 7: 27,977,243 (GRCm39) L13R probably damaging Het
Enam A G 5: 88,649,679 (GRCm39) Y396C probably damaging Het
Fam161a A T 11: 22,971,006 (GRCm39) T395S probably damaging Het
Fat1 A G 8: 45,476,197 (GRCm39) R1748G probably benign Het
Fdxacb1 C A 9: 50,681,451 (GRCm39) T124K possibly damaging Het
Fer1l6 A T 15: 58,513,794 (GRCm39) D1563V possibly damaging Het
Gm20834 T C Y: 10,323,226 (GRCm39) H70R probably damaging Het
Gucy2d T A 7: 98,098,964 (GRCm39) M261K probably damaging Het
Hcar2 T A 5: 124,002,861 (GRCm39) Q214L probably benign Het
Hdac11 C T 6: 91,136,214 (GRCm39) H75Y probably damaging Het
Hoxa2 C A 6: 52,141,279 (GRCm39) A116S probably benign Het
Ints2 A G 11: 86,106,444 (GRCm39) C989R probably damaging Het
Jpt1 T C 11: 115,393,950 (GRCm39) E36G probably damaging Het
Kdm5d G A Y: 914,044 (GRCm39) R327Q possibly damaging Het
Klhl1 T C 14: 96,584,304 (GRCm39) M309V probably benign Het
Larp4 A G 15: 99,889,659 (GRCm39) K193E probably benign Het
Lmo3 C T 6: 138,393,500 (GRCm39) C40Y probably damaging Het
Mcm4 A G 16: 15,448,306 (GRCm39) V417A probably benign Het
Med8 A G 4: 118,268,176 (GRCm39) E34G probably damaging Het
Mex3b G T 7: 82,517,114 (GRCm39) A86S possibly damaging Het
Muc6 T C 7: 141,224,245 (GRCm39) T1646A unknown Het
Myo15b A T 11: 115,749,570 (GRCm39) E113D Het
Myo7a T A 7: 97,712,881 (GRCm39) H1698L probably benign Het
Myocos T A 1: 162,484,678 (GRCm39) M44L unknown Het
Nfrkb C T 9: 31,325,328 (GRCm39) Q924* probably null Het
Nol6 A G 4: 41,117,424 (GRCm39) L923P possibly damaging Het
Nrxn3 T C 12: 89,477,232 (GRCm39) Y472H probably damaging Het
Nudcd1 A G 15: 44,269,253 (GRCm39) Y136H possibly damaging Het
Obox2 T C 7: 15,131,241 (GRCm39) C116R probably damaging Het
Onecut3 A T 10: 80,331,310 (GRCm39) S157C unknown Het
Or10ak11 A G 4: 118,687,517 (GRCm39) V39A probably damaging Het
Or11g27 T A 14: 50,771,472 (GRCm39) V201D probably benign Het
Or2d2b T A 7: 106,705,982 (GRCm39) I29F probably benign Het
Or4f15 T C 2: 111,814,124 (GRCm39) I98M probably damaging Het
Oscp1 C T 4: 125,967,726 (GRCm39) R91* probably null Het
Pclo A T 5: 14,762,606 (GRCm39) D408V Het
Pde8a T C 7: 80,932,581 (GRCm39) V81A probably benign Het
Pde8b T A 13: 95,164,251 (GRCm39) D653V probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Pik3cg T C 12: 32,245,647 (GRCm39) Y867C probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Psd4 A T 2: 24,294,768 (GRCm39) D776V possibly damaging Het
Ptprb A G 10: 116,119,334 (GRCm39) E156G probably benign Het
Rad54b A G 4: 11,610,372 (GRCm39) Y663C probably damaging Het
Ranbp3l T A 15: 9,030,955 (GRCm39) V78D possibly damaging Het
Rbm12 T C 2: 155,940,138 (GRCm39) I45V unknown Het
Scn9a A G 2: 66,363,692 (GRCm39) V862A probably damaging Het
Sdcbp T C 4: 6,393,089 (GRCm39) I242T possibly damaging Het
Slc25a24 A G 3: 109,066,751 (GRCm39) T302A probably damaging Het
Slc45a3 G T 1: 131,904,549 (GRCm39) probably benign Het
Srpk1 T C 17: 28,813,192 (GRCm39) I517M probably benign Het
Tmx4 A G 2: 134,481,581 (GRCm39) M114T probably benign Het
Trhr T A 15: 44,092,627 (GRCm39) V288D probably damaging Het
Tspoap1 A T 11: 87,652,351 (GRCm39) I42F probably benign Het
Ttn A T 2: 76,781,856 (GRCm39) D1063E unknown Het
Tusc3 A G 8: 39,538,635 (GRCm39) I225V probably benign Het
Ugt2b38 A G 5: 87,571,973 (GRCm39) S20P probably damaging Het
Upf2 A G 2: 6,032,219 (GRCm39) T922A unknown Het
Usp38 C T 8: 81,741,190 (GRCm39) probably benign Het
Vmn1r216 A G 13: 23,283,738 (GRCm39) I140M probably damaging Het
Vmn2r115 T A 17: 23,565,371 (GRCm39) N419K possibly damaging Het
Vmn2r55 C T 7: 12,404,755 (GRCm39) G216D probably benign Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wnt7b C A 15: 85,421,615 (GRCm39) R349L possibly damaging Het
Xbp1 T C 11: 5,471,098 (GRCm39) V35A probably benign Het
Zan A T 5: 137,445,057 (GRCm39) M1734K unknown Het
Zfhx4 A G 3: 5,477,237 (GRCm39) E3284G probably damaging Het
Zfp458 A G 13: 67,404,978 (GRCm39) L487S possibly damaging Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging Het
Zp1 A G 19: 10,895,280 (GRCm39) L324P possibly damaging Het
Other mutations in Nalcn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Nalcn APN 14 123,586,201 (GRCm39) missense probably benign 0.00
IGL00964:Nalcn APN 14 123,532,796 (GRCm39) splice site probably benign
IGL01310:Nalcn APN 14 123,554,661 (GRCm39) missense probably benign 0.00
IGL01578:Nalcn APN 14 123,809,503 (GRCm39) missense probably benign 0.00
IGL01925:Nalcn APN 14 123,529,260 (GRCm39) missense possibly damaging 0.88
IGL02072:Nalcn APN 14 123,560,770 (GRCm39) missense probably benign 0.05
IGL02096:Nalcn APN 14 123,831,915 (GRCm39) missense probably benign 0.11
IGL02212:Nalcn APN 14 123,752,742 (GRCm39) missense probably damaging 0.99
IGL02306:Nalcn APN 14 123,560,750 (GRCm39) missense probably benign 0.07
IGL02471:Nalcn APN 14 123,560,726 (GRCm39) missense probably benign 0.02
IGL02478:Nalcn APN 14 123,558,717 (GRCm39) missense probably benign 0.26
IGL02551:Nalcn APN 14 123,560,750 (GRCm39) missense probably benign 0.07
IGL02630:Nalcn APN 14 123,555,291 (GRCm39) missense probably benign 0.16
IGL02632:Nalcn APN 14 123,555,265 (GRCm39) missense probably benign 0.11
IGL02661:Nalcn APN 14 123,830,321 (GRCm39) splice site probably benign
IGL02830:Nalcn APN 14 123,530,881 (GRCm39) missense probably damaging 0.98
IGL02939:Nalcn APN 14 123,536,284 (GRCm39) missense probably null 1.00
IGL03035:Nalcn APN 14 123,515,630 (GRCm39) nonsense probably null
IGL03226:Nalcn APN 14 123,518,527 (GRCm39) missense probably benign 0.00
IGL03242:Nalcn APN 14 123,558,899 (GRCm39) missense possibly damaging 0.91
Narnia UTSW 14 123,528,459 (GRCm39) missense probably benign 0.11
R0019:Nalcn UTSW 14 123,744,901 (GRCm39) missense probably benign 0.18
R0144:Nalcn UTSW 14 123,647,251 (GRCm39) splice site probably benign
R0144:Nalcn UTSW 14 123,608,948 (GRCm39) missense probably damaging 0.96
R0359:Nalcn UTSW 14 123,536,580 (GRCm39) missense probably damaging 1.00
R0383:Nalcn UTSW 14 123,744,971 (GRCm39) missense probably benign 0.01
R0400:Nalcn UTSW 14 123,528,372 (GRCm39) splice site probably benign
R0467:Nalcn UTSW 14 123,528,459 (GRCm39) missense probably benign 0.11
R0506:Nalcn UTSW 14 123,834,026 (GRCm39) missense possibly damaging 0.82
R0583:Nalcn UTSW 14 123,531,755 (GRCm39) missense possibly damaging 0.46
R0620:Nalcn UTSW 14 123,536,553 (GRCm39) splice site probably benign
R0624:Nalcn UTSW 14 123,607,444 (GRCm39) missense probably benign
R0883:Nalcn UTSW 14 123,702,152 (GRCm39) missense probably damaging 1.00
R1381:Nalcn UTSW 14 123,551,517 (GRCm39) missense probably damaging 1.00
R1467:Nalcn UTSW 14 123,702,068 (GRCm39) splice site probably benign
R1689:Nalcn UTSW 14 123,522,666 (GRCm39) missense probably damaging 1.00
R1726:Nalcn UTSW 14 123,545,816 (GRCm39) missense probably damaging 1.00
R1774:Nalcn UTSW 14 123,515,678 (GRCm39) missense probably benign
R1854:Nalcn UTSW 14 123,697,824 (GRCm39) missense probably damaging 1.00
R1869:Nalcn UTSW 14 123,831,965 (GRCm39) missense possibly damaging 0.96
R1871:Nalcn UTSW 14 123,831,965 (GRCm39) missense possibly damaging 0.96
R1873:Nalcn UTSW 14 123,521,013 (GRCm39) missense probably benign 0.00
R1899:Nalcn UTSW 14 123,553,538 (GRCm39) missense possibly damaging 0.50
R1915:Nalcn UTSW 14 123,540,181 (GRCm39) missense probably benign 0.08
R2016:Nalcn UTSW 14 123,831,993 (GRCm39) splice site probably null
R2034:Nalcn UTSW 14 123,521,015 (GRCm39) missense probably benign 0.01
R2087:Nalcn UTSW 14 123,518,557 (GRCm39) missense probably benign
R2149:Nalcn UTSW 14 123,607,429 (GRCm39) missense probably benign 0.01
R2157:Nalcn UTSW 14 123,647,164 (GRCm39) missense probably benign 0.32
R2166:Nalcn UTSW 14 123,607,363 (GRCm39) missense probably benign 0.00
R2932:Nalcn UTSW 14 123,830,430 (GRCm39) missense probably benign 0.06
R3408:Nalcn UTSW 14 123,834,029 (GRCm39) missense probably null 0.98
R3778:Nalcn UTSW 14 123,702,128 (GRCm39) missense probably damaging 1.00
R3807:Nalcn UTSW 14 123,515,599 (GRCm39) missense probably damaging 1.00
R3835:Nalcn UTSW 14 123,530,834 (GRCm39) splice site probably benign
R3937:Nalcn UTSW 14 123,607,357 (GRCm39) missense probably benign 0.00
R4001:Nalcn UTSW 14 123,834,006 (GRCm39) missense probably damaging 1.00
R4015:Nalcn UTSW 14 123,723,799 (GRCm39) missense probably damaging 1.00
R4033:Nalcn UTSW 14 123,837,401 (GRCm39) splice site probably benign
R4231:Nalcn UTSW 14 123,837,325 (GRCm39) missense probably benign 0.01
R4464:Nalcn UTSW 14 123,560,762 (GRCm39) missense probably benign
R4512:Nalcn UTSW 14 123,532,860 (GRCm39) missense probably damaging 1.00
R4542:Nalcn UTSW 14 123,558,889 (GRCm39) synonymous silent
R4557:Nalcn UTSW 14 123,558,647 (GRCm39) intron probably benign
R4869:Nalcn UTSW 14 123,837,296 (GRCm39) missense probably benign 0.44
R5083:Nalcn UTSW 14 123,560,706 (GRCm39) splice site probably null
R5109:Nalcn UTSW 14 123,515,650 (GRCm39) missense possibly damaging 0.86
R5131:Nalcn UTSW 14 123,753,182 (GRCm39) missense probably damaging 0.98
R5158:Nalcn UTSW 14 123,753,149 (GRCm39) missense probably damaging 1.00
R5259:Nalcn UTSW 14 123,753,063 (GRCm39) missense possibly damaging 0.94
R5422:Nalcn UTSW 14 123,752,777 (GRCm39) missense probably damaging 1.00
R5514:Nalcn UTSW 14 123,521,123 (GRCm39) missense probably benign 0.14
R5523:Nalcn UTSW 14 123,647,155 (GRCm39) missense probably damaging 1.00
R5551:Nalcn UTSW 14 123,515,698 (GRCm39) missense possibly damaging 0.57
R5667:Nalcn UTSW 14 123,532,818 (GRCm39) missense probably damaging 1.00
R5671:Nalcn UTSW 14 123,532,818 (GRCm39) missense probably damaging 1.00
R5750:Nalcn UTSW 14 123,809,450 (GRCm39) missense probably benign
R5765:Nalcn UTSW 14 123,702,138 (GRCm39) missense possibly damaging 0.46
R6324:Nalcn UTSW 14 123,647,161 (GRCm39) missense possibly damaging 0.83
R6523:Nalcn UTSW 14 123,555,255 (GRCm39) missense probably benign 0.00
R6558:Nalcn UTSW 14 123,723,919 (GRCm39) missense probably benign
R6631:Nalcn UTSW 14 123,697,663 (GRCm39) missense probably benign 0.17
R6667:Nalcn UTSW 14 123,558,735 (GRCm39) missense probably damaging 1.00
R6670:Nalcn UTSW 14 123,702,084 (GRCm39) missense possibly damaging 0.96
R6724:Nalcn UTSW 14 123,535,479 (GRCm39) missense probably damaging 0.99
R6731:Nalcn UTSW 14 123,837,346 (GRCm39) missense probably benign 0.22
R6957:Nalcn UTSW 14 123,744,966 (GRCm39) missense probably damaging 0.96
R6970:Nalcn UTSW 14 123,551,506 (GRCm39) missense possibly damaging 0.46
R7010:Nalcn UTSW 14 123,530,877 (GRCm39) missense probably damaging 1.00
R7018:Nalcn UTSW 14 123,647,233 (GRCm39) missense probably damaging 1.00
R7040:Nalcn UTSW 14 123,525,267 (GRCm39) missense probably benign
R7089:Nalcn UTSW 14 123,515,761 (GRCm39) missense probably benign 0.01
R7128:Nalcn UTSW 14 123,831,914 (GRCm39) missense probably damaging 0.99
R7149:Nalcn UTSW 14 123,837,277 (GRCm39) missense probably benign 0.02
R7361:Nalcn UTSW 14 123,529,251 (GRCm39) missense probably benign 0.00
R7378:Nalcn UTSW 14 123,540,302 (GRCm39) missense probably damaging 1.00
R7408:Nalcn UTSW 14 123,529,272 (GRCm39) missense probably benign 0.00
R7470:Nalcn UTSW 14 123,809,456 (GRCm39) missense probably benign 0.09
R7521:Nalcn UTSW 14 123,530,870 (GRCm39) missense probably damaging 1.00
R7558:Nalcn UTSW 14 123,723,797 (GRCm39) critical splice donor site probably null
R7585:Nalcn UTSW 14 123,753,050 (GRCm39) missense probably damaging 1.00
R7591:Nalcn UTSW 14 123,561,297 (GRCm39) missense probably benign 0.01
R7761:Nalcn UTSW 14 123,531,792 (GRCm39) missense probably damaging 1.00
R7761:Nalcn UTSW 14 123,531,791 (GRCm39) missense probably damaging 1.00
R7811:Nalcn UTSW 14 123,536,357 (GRCm39) missense probably damaging 1.00
R7983:Nalcn UTSW 14 123,830,409 (GRCm39) missense probably benign 0.17
R8089:Nalcn UTSW 14 123,537,372 (GRCm39) missense probably damaging 1.00
R8110:Nalcn UTSW 14 123,702,113 (GRCm39) missense probably benign 0.00
R8190:Nalcn UTSW 14 123,837,351 (GRCm39) missense possibly damaging 0.69
R8273:Nalcn UTSW 14 123,554,436 (GRCm39) missense probably damaging 1.00
R8407:Nalcn UTSW 14 123,554,683 (GRCm39) missense probably damaging 1.00
R8497:Nalcn UTSW 14 123,752,771 (GRCm39) missense probably damaging 1.00
R8544:Nalcn UTSW 14 123,608,935 (GRCm39) missense probably benign 0.40
R8549:Nalcn UTSW 14 123,607,448 (GRCm39) missense probably benign 0.01
R8731:Nalcn UTSW 14 123,837,266 (GRCm39) missense probably benign 0.01
R8862:Nalcn UTSW 14 123,647,199 (GRCm39) missense possibly damaging 0.96
R8919:Nalcn UTSW 14 123,561,284 (GRCm39) missense probably benign 0.00
R9072:Nalcn UTSW 14 123,532,863 (GRCm39) missense possibly damaging 0.66
R9073:Nalcn UTSW 14 123,532,863 (GRCm39) missense possibly damaging 0.66
R9182:Nalcn UTSW 14 123,834,016 (GRCm39) missense probably damaging 1.00
R9193:Nalcn UTSW 14 123,545,792 (GRCm39) nonsense probably null
R9241:Nalcn UTSW 14 123,809,429 (GRCm39) missense probably benign 0.00
R9267:Nalcn UTSW 14 123,518,567 (GRCm39) missense probably benign 0.08
R9274:Nalcn UTSW 14 123,753,068 (GRCm39) missense probably damaging 1.00
R9277:Nalcn UTSW 14 123,518,523 (GRCm39) missense probably damaging 0.98
R9376:Nalcn UTSW 14 123,515,713 (GRCm39) missense possibly damaging 0.74
X0060:Nalcn UTSW 14 123,522,653 (GRCm39) missense probably damaging 1.00
Z1177:Nalcn UTSW 14 123,831,980 (GRCm39) missense probably damaging 1.00
Z1177:Nalcn UTSW 14 123,531,857 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACCTTCTACCAGGAAGAGACATAC -3'
(R):5'- GATGAATGAGTGGCCCATGG -3'

Sequencing Primer
(F):5'- CAGGAAGAGACATACTGTGTGCTTAC -3'
(R):5'- TGGCCCATGGTGGAGAAGTTAG -3'
Posted On 2019-10-07