Incidental Mutation 'R7361:Nalcn'
ID 571375
Institutional Source Beutler Lab
Gene Symbol Nalcn
Ensembl Gene ENSMUSG00000000197
Gene Name sodium leak channel, non-selective
Synonyms Vgcnl1, A530023G15Rik
MMRRC Submission 045447-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7361 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 123514046-123864556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123529251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1408 (D1408G)
Ref Sequence ENSEMBL: ENSMUSP00000000201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000201]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000201
AA Change: D1408G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: D1408G

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: 100.0%
  • 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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik C T 6: 132,604,434 (GRCm39) V4I unknown Het
Actn1 A T 12: 80,240,489 (GRCm39) D199E probably benign Het
Adam17 T C 12: 21,375,602 (GRCm39) D739G probably damaging Het
Agmat T C 4: 141,474,163 (GRCm39) S15P probably benign Het
Ahsa2 A G 11: 23,441,099 (GRCm39) S229P probably damaging Het
Arhgef3 A G 14: 26,987,535 (GRCm39) D36G possibly damaging Het
C6 C A 15: 4,826,404 (GRCm39) Y662* probably null Het
Ccs T C 19: 4,883,378 (GRCm39) D140G probably benign Het
Cdc42bpb A G 12: 111,312,039 (GRCm39) L65P probably damaging Het
Cdh24 A T 14: 54,876,378 (GRCm39) V149E possibly damaging Het
Cdk12 C A 11: 98,101,294 (GRCm39) S384* probably null Het
Cep350 G A 1: 155,777,237 (GRCm39) A1701V probably damaging Het
Ces1g T C 8: 94,060,307 (GRCm39) Q104R not run Het
Chd5 A G 4: 152,447,745 (GRCm39) H537R probably damaging Het
Cln5 T A 14: 103,313,339 (GRCm39) V197D probably damaging Het
Coq7 A G 7: 118,128,798 (GRCm39) V79A probably benign Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Cplx2 A T 13: 54,526,639 (GRCm39) M16L probably benign Het
Crot A G 5: 9,027,534 (GRCm39) L266S probably damaging Het
Ctbs T A 3: 146,164,509 (GRCm39) Y221N probably damaging Het
Cul7 T A 17: 46,967,933 (GRCm39) L707Q probably damaging Het
D430041D05Rik G A 2: 104,085,363 (GRCm39) T378I possibly damaging Het
Dixdc1 T C 9: 50,599,953 (GRCm39) I364V probably damaging Het
Dnah11 T A 12: 117,982,477 (GRCm39) H2564L probably damaging Het
Dnajc3 T C 14: 119,175,576 (GRCm39) Y26H probably benign Het
Dpysl2 G A 14: 67,071,664 (GRCm39) H159Y possibly damaging Het
Ehmt1 T A 2: 24,746,713 (GRCm39) K423I possibly damaging Het
Eif1ad4 A G 12: 87,862,170 (GRCm39) N11D unknown Het
Enpp7 A G 11: 118,882,985 (GRCm39) N353S probably benign Het
Ext1 G A 15: 53,208,119 (GRCm39) A214V probably damaging Het
Fbh1 A T 2: 11,751,887 (GRCm39) I937N probably damaging Het
Fbxo39 T C 11: 72,207,800 (GRCm39) Y51H possibly damaging Het
Firrm A T 1: 163,813,602 (GRCm39) D207E possibly damaging Het
Fry A G 5: 150,360,312 (GRCm39) H1986R possibly damaging Het
Grem2 T C 1: 174,664,514 (GRCm39) K112E probably benign Het
Gucy1a1 A G 3: 82,005,027 (GRCm39) V586A probably damaging Het
Il12rb2 G T 6: 67,280,450 (GRCm39) L586I possibly damaging Het
Il18 T C 9: 50,490,614 (GRCm39) I83T probably damaging Het
Irs1 A T 1: 82,266,835 (GRCm39) Y460* probably null Het
Jak1 G T 4: 101,041,536 (GRCm39) Q161K possibly damaging Het
Jakmip1 T A 5: 37,276,148 (GRCm39) L486Q probably damaging Het
Jmjd1c C A 10: 67,054,143 (GRCm39) Q16K probably benign Het
Kidins220 T C 12: 25,106,999 (GRCm39) L1393P probably benign Het
Klhl24 A C 16: 19,936,750 (GRCm39) I453L probably benign Het
Krtap2-4 C T 11: 99,505,420 (GRCm39) D64N probably damaging Het
Man1a T A 10: 53,784,105 (GRCm39) D592V probably damaging Het
Mepe T A 5: 104,485,009 (GRCm39) Y50N probably benign Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Muc4 T A 16: 32,754,670 (GRCm38) S1515T probably benign Het
Nav1 T C 1: 135,380,591 (GRCm39) M1443V unknown Het
Nckap1l A C 15: 103,379,709 (GRCm39) N332T possibly damaging Het
Neurl4 T A 11: 69,802,905 (GRCm39) L1467Q probably benign Het
Notch2 A G 3: 98,038,718 (GRCm39) N1287S probably benign Het
Nr4a3 C T 4: 48,083,203 (GRCm39) P579S probably benign Het
Nrxn2 A T 19: 6,567,112 (GRCm39) H1329L probably benign Het
Nynrin A T 14: 56,107,857 (GRCm39) H988L possibly damaging Het
Or1e34 T A 11: 73,778,827 (GRCm39) I124F probably damaging Het
Or4c31 A G 2: 88,291,836 (GRCm39) T70A probably benign Het
Or4c3d A G 2: 89,882,089 (GRCm39) I193T probably benign Het
Or52e3 G T 7: 102,869,830 (GRCm39) D302Y possibly damaging Het
Or7g35 T A 9: 19,495,856 (GRCm39) F8I probably benign Het
Pclo G A 5: 14,843,882 (GRCm39) S1534N probably damaging Het
Pign A G 1: 105,512,778 (GRCm39) V635A probably benign Het
Pkhd1 T C 1: 20,664,177 (GRCm39) T134A probably damaging Het
Plcb4 A T 2: 135,818,068 (GRCm39) N790I possibly damaging Het
Plxna2 G T 1: 194,482,087 (GRCm39) C1453F probably damaging Het
Plxna4 A G 6: 32,173,057 (GRCm39) probably null Het
Pnpla2 A G 7: 141,037,344 (GRCm39) I116V possibly damaging Het
Polq A G 16: 36,880,790 (GRCm39) T985A probably benign Het
Pramel11 T C 4: 143,622,456 (GRCm39) T300A possibly damaging Het
Prex1 T C 2: 166,555,490 (GRCm39) N50S probably benign Het
Ptgfrn G A 3: 100,984,760 (GRCm39) A144V probably benign Het
Rad54b G A 4: 11,599,782 (GRCm39) G329S probably damaging Het
Rrbp1 A G 2: 143,809,364 (GRCm39) L931S probably benign Het
Saxo4 T G 19: 10,456,943 (GRCm39) D134A probably damaging Het
Sipa1l2 A G 8: 126,180,071 (GRCm39) S1109P probably damaging Het
Slc26a7 G T 4: 14,546,305 (GRCm39) N341K probably damaging Het
Smg1 A C 7: 117,784,200 (GRCm39) D958E unknown Het
Smg6 T A 11: 74,820,979 (GRCm39) S417T probably benign Het
Srgap3 A G 6: 112,723,882 (GRCm39) V550A probably damaging Het
Terb1 T A 8: 105,195,431 (GRCm39) D570V probably damaging Het
Tet3 A G 6: 83,345,076 (GRCm39) V1787A probably benign Het
Tor1a A T 2: 30,853,753 (GRCm39) D192E probably benign Het
Tpr T C 1: 150,323,372 (GRCm39) S2379P possibly damaging Het
Trip12 A T 1: 84,728,163 (GRCm39) F1138L probably damaging Het
Trpv1 T C 11: 73,151,203 (GRCm39) L797P probably damaging Het
Tut1 T C 19: 8,942,698 (GRCm39) L595P probably damaging Het
Ubl7 T C 9: 57,821,905 (GRCm39) S85P probably damaging Het
Urb1 C A 16: 90,571,656 (GRCm39) S1051I probably damaging Het
Usp17le A G 7: 104,418,084 (GRCm39) W353R probably damaging Het
Usp44 T C 10: 93,682,330 (GRCm39) L260S probably benign Het
Wsb1 T A 11: 79,131,623 (GRCm39) probably null Het
Xrcc2 A T 5: 25,897,755 (GRCm39) C65S probably damaging Het
Zfp316 T A 5: 143,240,430 (GRCm39) M530L probably benign Het
Zfp473 T C 7: 44,382,563 (GRCm39) H590R probably damaging Het
Zfp983 T A 17: 21,880,850 (GRCm39) H259Q probably 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
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
R7483:Nalcn UTSW 14 123,551,499 (GRCm39) missense probably damaging 1.00
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'- AAAGGTCTTTTCAGCTCCTGG -3'
(R):5'- CCGACATGTATGGCTTTTGC -3'

Sequencing Primer
(F):5'- CCAAGCAATCCAGGATAATTACTTG -3'
(R):5'- CGACATGTATGGCTTTTGCTTGATG -3'
Posted On 2019-09-13