Incidental Mutation 'R1915:Nalcn'
ID 214807
Institutional Source Beutler Lab
Gene Symbol Nalcn
Ensembl Gene ENSMUSG00000000197
Gene Name sodium leak channel, non-selective
Synonyms Vgcnl1, A530023G15Rik
MMRRC Submission 039933-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1915 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 123514046-123864556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123540181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1140 (V1140I)
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: V1140I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: V1140I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228860
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency 100% (85/85)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Adam2 C A 14: 66,275,006 (GRCm39) V576F possibly damaging Het
Afmid T C 11: 117,726,625 (GRCm39) F250L possibly damaging Het
Apc2 A T 10: 80,151,701 (GRCm39) I2252L probably benign Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Btnl7-ps T A 17: 34,760,619 (GRCm39) noncoding transcript Het
Cdkn2aip T C 8: 48,164,961 (GRCm39) T251A probably benign Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Cfap54 A G 10: 92,720,564 (GRCm39) V2630A unknown Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cldn23 T A 8: 36,293,099 (GRCm39) I130F possibly damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Dcbld1 G T 10: 52,193,131 (GRCm39) C292F probably damaging Het
Dlgap5 T C 14: 47,645,230 (GRCm39) K304E probably benign Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Exoc3 A G 13: 74,321,413 (GRCm39) probably null Het
F5 C A 1: 164,010,486 (GRCm39) R406S probably damaging Het
Fahd1 A T 17: 25,068,622 (GRCm39) W152R possibly damaging Het
Farp2 T A 1: 93,456,424 (GRCm39) S36T probably benign Het
Foxs1 A G 2: 152,774,760 (GRCm39) C98R probably damaging Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gm8674 A T 13: 50,054,889 (GRCm39) noncoding transcript Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcna4 T C 2: 107,127,123 (GRCm39) V619A probably benign Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Kif1b G A 4: 149,351,673 (GRCm39) T263I probably damaging Het
Large2 G T 2: 92,196,170 (GRCm39) probably benign Het
Lcp1 T A 14: 75,436,737 (GRCm39) Y28N possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mccc2 T C 13: 100,085,038 (GRCm39) probably null Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mlst8 C T 17: 24,696,264 (GRCm39) W155* probably null Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nup58 T C 14: 60,475,980 (GRCm39) K279R probably benign Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or11g1 C T 14: 50,651,798 (GRCm39) P266S probably damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Or8k30 A G 2: 86,339,343 (GRCm39) D180G probably damaging Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Pram1 A T 17: 33,860,131 (GRCm39) I233F probably benign Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Ptpn23 A T 9: 110,215,575 (GRCm39) D1396E probably damaging Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Stk36 T A 1: 74,673,346 (GRCm39) S1080T probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Uri1 A T 7: 37,661,103 (GRCm39) I480K probably damaging Het
Zcchc3 A C 2: 152,255,601 (GRCm39) V366G probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly damaging Het
Zfp54 T C 17: 21,654,414 (GRCm39) Y303H probably benign Het
Zfp729b A G 13: 67,741,339 (GRCm39) F319L probably damaging Het
Zfp934 G A 13: 62,665,769 (GRCm39) H291Y 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
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
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'- TACAACTTAATGTGGCTCCATGC -3'
(R):5'- ATCCTCGGAACTTTAACTTCGAC -3'

Sequencing Primer
(F):5'- GCTCCATGCCATGTATGAAAC -3'
(R):5'- CGGAACTTTAACTTCGACAATGTGGG -3'
Posted On 2014-07-14