Mutagenetix > Incidental Mutation

Incidental Mutation 'R0144:Nalcn'

60801

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

A530023G15Rik, Vgcnl1

MMRRC Submission

038429-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0144 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

123276634-123627144 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 123409839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,605,965		probably null	Het
Acp6	T	A	3: 97,165,829		probably benign	Het
AI661453	A	T	17: 47,469,299		probably benign	Het
Aox1	A	G	1: 58,070,074	I674V	probably benign	Het
Armc2	A	T	10: 41,947,887		probably benign	Het
Atp8b1	G	C	18: 64,571,374		probably benign	Het
Baz2b	A	T	2: 59,907,495	N1823K	probably damaging	Het
Bbx	C	T	16: 50,280,392	E47K	probably benign	Het
Brca1	A	T	11: 101,526,121	S396T	probably damaging	Het
Btnl6	G	T	17: 34,514,020	R290S	probably benign	Het
Casp8ap2	A	G	4: 32,643,797	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,827,351	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,276,203	I738T	probably damaging	Het
Ccdc58	A	T	16: 36,085,114	N92I	possibly damaging	Het
Ceacam15	G	T	7: 16,673,191	H134N	probably benign	Het
Cep170	T	C	1: 176,792,595	I46V	probably benign	Het
Cfap57	T	C	4: 118,584,705	D722G	probably damaging	Het
Col11a1	A	T	3: 114,113,594	D628V	unknown	Het
Csmd1	A	T	8: 16,391,824	V342E	probably benign	Het
Dennd1a	A	G	2: 38,126,640	V64A	probably damaging	Het
Dlec1	G	T	9: 119,142,866	G1345V	probably benign	Het
Dnah1	G	A	14: 31,267,874		probably benign	Het
Dock5	C	T	14: 67,786,286	G1142D	probably benign	Het
Etv2	C	A	7: 30,634,883	A142S	probably benign	Het
Fam110c	C	A	12: 31,074,501	T154K	unknown	Het
Fbxo17	C	G	7: 28,735,340	D183E	probably damaging	Het
Fbxo30	T	A	10: 11,295,220	W681R	probably damaging	Het
Fig4	A	G	10: 41,258,049	Y413H	probably damaging	Het
Gab1	A	G	8: 80,785,201		probably benign	Het
Gabarapl1	T	C	6: 129,533,448	M1T	probably null	Het
Gm4763	A	G	7: 24,723,590	V101A	possibly damaging	Het
H2-M10.6	G	A	17: 36,812,241	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,962,013	D2432G	probably damaging	Het
Il13	T	C	11: 53,633,176	D60G	possibly damaging	Het
Iqgap1	A	G	7: 80,751,920	L479P	probably damaging	Het
Itpr2	T	A	6: 146,327,155	Q1314L	probably damaging	Het
Jrk	C	T	15: 74,706,156	G427S	probably benign	Het
Kcnb1	T	G	2: 167,104,547	N794H	probably damaging	Het
Klhl8	A	T	5: 103,867,938	S361R	probably benign	Het
Krt87	T	C	15: 101,438,661	Y37C	probably benign	Het
Lbp	A	T	2: 158,319,710	S231C	probably damaging	Het
Lpin2	A	G	17: 71,225,076	E142G	probably damaging	Het
Lrch4	G	A	5: 137,638,543		probably null	Het
Manea	A	G	4: 26,340,719	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,481,015	T618A	probably benign	Het
Me3	A	G	7: 89,739,872	D128G	probably damaging	Het
Mug2	A	G	6: 122,071,011		probably benign	Het
Myo9b	A	T	8: 71,346,043	Q901L	probably damaging	Het
Ncor1	T	C	11: 62,392,595	N422S	probably damaging	Het
Nf1	T	A	11: 79,547,127	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,348,392	A358T	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr486	T	C	7: 108,171,971	I258V	probably benign	Het
Olfr593	A	T	7: 103,212,540	I216F	probably damaging	Het
Phlpp2	C	T	8: 109,907,513	R242W	probably damaging	Het
Pld5	T	C	1: 175,970,541	N431D	probably benign	Het
Prss28	G	A	17: 25,309,450	V16M	probably damaging	Het
Psmd2	T	A	16: 20,662,225		probably null	Het
Ptpn21	A	T	12: 98,688,609	S700T	probably benign	Het
Rasa2	A	T	9: 96,592,019	V152D	probably damaging	Het
Reln	G	T	5: 21,948,449	R2286S	probably damaging	Het
Rflnb	G	T	11: 76,024,963	P102Q	probably damaging	Het
Rin2	G	A	2: 145,876,639	V680I	probably damaging	Het
Rnf213	A	T	11: 119,479,600	K4742*	probably null	Het
Rpp40	A	T	13: 35,901,369	S143T	probably benign	Het
Rps12	A	G	10: 23,786,791	I51T	probably benign	Het
Rsf1	T	A	7: 97,636,407	W109R	probably damaging	Het
Sipa1l2	C	T	8: 125,449,876		probably null	Het
Tspan5	G	T	3: 138,898,348	V165L	probably damaging	Het
Uts2r	T	A	11: 121,161,465	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,789,016	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,579		probably benign	Het
Zmiz1	A	G	14: 25,655,247	K766R	probably damaging	Het

Other mutations in Nalcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Nalcn	APN	14	123,348,789 (GRCm38)	missense	probably benign	0.00
IGL00964:Nalcn	APN	14	123,295,384 (GRCm38)	splice site	probably benign
IGL01310:Nalcn	APN	14	123,317,249 (GRCm38)	missense	probably benign	0.00
IGL01578:Nalcn	APN	14	123,572,091 (GRCm38)	missense	probably benign	0.00
IGL01925:Nalcn	APN	14	123,291,848 (GRCm38)	missense	possibly damaging	0.88
IGL02072:Nalcn	APN	14	123,323,358 (GRCm38)	missense	probably benign	0.05
IGL02096:Nalcn	APN	14	123,594,503 (GRCm38)	missense	probably benign	0.11
IGL02212:Nalcn	APN	14	123,515,330 (GRCm38)	missense	probably damaging	0.99
IGL02306:Nalcn	APN	14	123,323,338 (GRCm38)	missense	probably benign	0.07
IGL02471:Nalcn	APN	14	123,323,314 (GRCm38)	missense	probably benign	0.02
IGL02478:Nalcn	APN	14	123,321,305 (GRCm38)	missense	probably benign	0.26
IGL02551:Nalcn	APN	14	123,323,338 (GRCm38)	missense	probably benign	0.07
IGL02630:Nalcn	APN	14	123,317,879 (GRCm38)	missense	probably benign	0.16
IGL02632:Nalcn	APN	14	123,317,853 (GRCm38)	missense	probably benign	0.11
IGL02661:Nalcn	APN	14	123,592,909 (GRCm38)	splice site	probably benign
IGL02830:Nalcn	APN	14	123,293,469 (GRCm38)	missense	probably damaging	0.98
IGL02939:Nalcn	APN	14	123,298,872 (GRCm38)	missense	probably null	1.00
IGL03035:Nalcn	APN	14	123,278,218 (GRCm38)	nonsense	probably null
IGL03226:Nalcn	APN	14	123,281,115 (GRCm38)	missense	probably benign	0.00
IGL03242:Nalcn	APN	14	123,321,487 (GRCm38)	missense	possibly damaging	0.91
Narnia	UTSW	14	123,291,047 (GRCm38)	missense	probably benign	0.11
R0019:Nalcn	UTSW	14	123,507,489 (GRCm38)	missense	probably benign	0.18
R0144:Nalcn	UTSW	14	123,371,536 (GRCm38)	missense	probably damaging	0.96
R0359:Nalcn	UTSW	14	123,299,168 (GRCm38)	missense	probably damaging	1.00
R0383:Nalcn	UTSW	14	123,507,559 (GRCm38)	missense	probably benign	0.01
R0400:Nalcn	UTSW	14	123,290,960 (GRCm38)	splice site	probably benign
R0467:Nalcn	UTSW	14	123,291,047 (GRCm38)	missense	probably benign	0.11
R0506:Nalcn	UTSW	14	123,596,614 (GRCm38)	missense	possibly damaging	0.82
R0583:Nalcn	UTSW	14	123,294,343 (GRCm38)	missense	possibly damaging	0.46
R0620:Nalcn	UTSW	14	123,299,141 (GRCm38)	splice site	probably benign
R0624:Nalcn	UTSW	14	123,370,032 (GRCm38)	missense	probably benign
R0883:Nalcn	UTSW	14	123,464,740 (GRCm38)	missense	probably damaging	1.00
R1381:Nalcn	UTSW	14	123,314,105 (GRCm38)	missense	probably damaging	1.00
R1467:Nalcn	UTSW	14	123,464,656 (GRCm38)	splice site	probably benign
R1689:Nalcn	UTSW	14	123,285,254 (GRCm38)	missense	probably damaging	1.00
R1726:Nalcn	UTSW	14	123,308,404 (GRCm38)	missense	probably damaging	1.00
R1774:Nalcn	UTSW	14	123,278,266 (GRCm38)	missense	probably benign
R1854:Nalcn	UTSW	14	123,460,412 (GRCm38)	missense	probably damaging	1.00
R1869:Nalcn	UTSW	14	123,594,553 (GRCm38)	missense	possibly damaging	0.96
R1871:Nalcn	UTSW	14	123,594,553 (GRCm38)	missense	possibly damaging	0.96
R1873:Nalcn	UTSW	14	123,283,601 (GRCm38)	missense	probably benign	0.00
R1899:Nalcn	UTSW	14	123,316,126 (GRCm38)	missense	possibly damaging	0.50
R1915:Nalcn	UTSW	14	123,302,769 (GRCm38)	missense	probably benign	0.08
R2016:Nalcn	UTSW	14	123,594,581 (GRCm38)	splice site	probably null
R2034:Nalcn	UTSW	14	123,283,603 (GRCm38)	missense	probably benign	0.01
R2087:Nalcn	UTSW	14	123,281,145 (GRCm38)	missense	probably benign
R2149:Nalcn	UTSW	14	123,370,017 (GRCm38)	missense	probably benign	0.01
R2157:Nalcn	UTSW	14	123,409,752 (GRCm38)	missense	probably benign	0.32
R2166:Nalcn	UTSW	14	123,369,951 (GRCm38)	missense	probably benign	0.00
R2932:Nalcn	UTSW	14	123,593,018 (GRCm38)	missense	probably benign	0.06
R3408:Nalcn	UTSW	14	123,596,617 (GRCm38)	missense	probably null	0.98
R3778:Nalcn	UTSW	14	123,464,716 (GRCm38)	missense	probably damaging	1.00
R3807:Nalcn	UTSW	14	123,278,187 (GRCm38)	missense	probably damaging	1.00
R3835:Nalcn	UTSW	14	123,293,422 (GRCm38)	splice site	probably benign
R3937:Nalcn	UTSW	14	123,369,945 (GRCm38)	missense	probably benign	0.00
R4001:Nalcn	UTSW	14	123,596,594 (GRCm38)	missense	probably damaging	1.00
R4015:Nalcn	UTSW	14	123,486,387 (GRCm38)	missense	probably damaging	1.00
R4033:Nalcn	UTSW	14	123,599,989 (GRCm38)	splice site	probably benign
R4231:Nalcn	UTSW	14	123,599,913 (GRCm38)	missense	probably benign	0.01
R4464:Nalcn	UTSW	14	123,323,350 (GRCm38)	missense	probably benign
R4512:Nalcn	UTSW	14	123,295,448 (GRCm38)	missense	probably damaging	1.00
R4542:Nalcn	UTSW	14	123,321,477 (GRCm38)	synonymous	silent
R4557:Nalcn	UTSW	14	123,321,235 (GRCm38)	intron	probably benign
R4869:Nalcn	UTSW	14	123,599,884 (GRCm38)	missense	probably benign	0.44
R5083:Nalcn	UTSW	14	123,323,294 (GRCm38)	splice site	probably null
R5109:Nalcn	UTSW	14	123,278,238 (GRCm38)	missense	possibly damaging	0.86
R5131:Nalcn	UTSW	14	123,515,770 (GRCm38)	missense	probably damaging	0.98
R5158:Nalcn	UTSW	14	123,515,737 (GRCm38)	missense	probably damaging	1.00
R5259:Nalcn	UTSW	14	123,515,651 (GRCm38)	missense	possibly damaging	0.94
R5422:Nalcn	UTSW	14	123,515,365 (GRCm38)	missense	probably damaging	1.00
R5514:Nalcn	UTSW	14	123,283,711 (GRCm38)	missense	probably benign	0.14
R5523:Nalcn	UTSW	14	123,409,743 (GRCm38)	missense	probably damaging	1.00
R5551:Nalcn	UTSW	14	123,278,286 (GRCm38)	missense	possibly damaging	0.57
R5667:Nalcn	UTSW	14	123,295,406 (GRCm38)	missense	probably damaging	1.00
R5671:Nalcn	UTSW	14	123,295,406 (GRCm38)	missense	probably damaging	1.00
R5750:Nalcn	UTSW	14	123,572,038 (GRCm38)	missense	probably benign
R5765:Nalcn	UTSW	14	123,464,726 (GRCm38)	missense	possibly damaging	0.46
R6324:Nalcn	UTSW	14	123,409,749 (GRCm38)	missense	possibly damaging	0.83
R6523:Nalcn	UTSW	14	123,317,843 (GRCm38)	missense	probably benign	0.00
R6558:Nalcn	UTSW	14	123,486,507 (GRCm38)	missense	probably benign
R6631:Nalcn	UTSW	14	123,460,251 (GRCm38)	missense	probably benign	0.17
R6667:Nalcn	UTSW	14	123,321,323 (GRCm38)	missense	probably damaging	1.00
R6670:Nalcn	UTSW	14	123,464,672 (GRCm38)	missense	possibly damaging	0.96
R6724:Nalcn	UTSW	14	123,298,067 (GRCm38)	missense	probably damaging	0.99
R6731:Nalcn	UTSW	14	123,599,934 (GRCm38)	missense	probably benign	0.22
R6957:Nalcn	UTSW	14	123,507,554 (GRCm38)	missense	probably damaging	0.96
R6970:Nalcn	UTSW	14	123,314,094 (GRCm38)	missense	possibly damaging	0.46
R7010:Nalcn	UTSW	14	123,293,465 (GRCm38)	missense	probably damaging	1.00
R7018:Nalcn	UTSW	14	123,409,821 (GRCm38)	missense	probably damaging	1.00
R7040:Nalcn	UTSW	14	123,287,855 (GRCm38)	missense	probably benign
R7089:Nalcn	UTSW	14	123,278,349 (GRCm38)	missense	probably benign	0.01
R7128:Nalcn	UTSW	14	123,594,502 (GRCm38)	missense	probably damaging	0.99
R7149:Nalcn	UTSW	14	123,599,865 (GRCm38)	missense	probably benign	0.02
R7361:Nalcn	UTSW	14	123,291,839 (GRCm38)	missense	probably benign	0.00
R7378:Nalcn	UTSW	14	123,302,890 (GRCm38)	missense	probably damaging	1.00
R7408:Nalcn	UTSW	14	123,291,860 (GRCm38)	missense	probably benign	0.00
R7470:Nalcn	UTSW	14	123,572,044 (GRCm38)	missense	probably benign	0.09
R7483:Nalcn	UTSW	14	123,314,087 (GRCm38)	missense	probably damaging	1.00
R7521:Nalcn	UTSW	14	123,293,458 (GRCm38)	missense	probably damaging	1.00
R7558:Nalcn	UTSW	14	123,486,385 (GRCm38)	critical splice donor site	probably null
R7585:Nalcn	UTSW	14	123,515,638 (GRCm38)	missense	probably damaging	1.00
R7591:Nalcn	UTSW	14	123,323,885 (GRCm38)	missense	probably benign	0.01
R7761:Nalcn	UTSW	14	123,294,379 (GRCm38)	missense	probably damaging	1.00
R7761:Nalcn	UTSW	14	123,294,380 (GRCm38)	missense	probably damaging	1.00
R7811:Nalcn	UTSW	14	123,298,945 (GRCm38)	missense	probably damaging	1.00
R7983:Nalcn	UTSW	14	123,592,997 (GRCm38)	missense	probably benign	0.17
R8089:Nalcn	UTSW	14	123,299,960 (GRCm38)	missense	probably damaging	1.00
R8110:Nalcn	UTSW	14	123,464,701 (GRCm38)	missense	probably benign	0.00
R8190:Nalcn	UTSW	14	123,599,939 (GRCm38)	missense	possibly damaging	0.69
R8273:Nalcn	UTSW	14	123,317,024 (GRCm38)	missense	probably damaging	1.00
R8407:Nalcn	UTSW	14	123,317,271 (GRCm38)	missense	probably damaging	1.00
R8497:Nalcn	UTSW	14	123,515,359 (GRCm38)	missense	probably damaging	1.00
R8544:Nalcn	UTSW	14	123,371,523 (GRCm38)	missense	probably benign	0.40
R8549:Nalcn	UTSW	14	123,370,036 (GRCm38)	missense	probably benign	0.01
R8731:Nalcn	UTSW	14	123,599,854 (GRCm38)	missense	probably benign	0.01
R8862:Nalcn	UTSW	14	123,409,787 (GRCm38)	missense	possibly damaging	0.96
R8919:Nalcn	UTSW	14	123,323,872 (GRCm38)	missense	probably benign	0.00
R9072:Nalcn	UTSW	14	123,295,451 (GRCm38)	missense	possibly damaging	0.66
R9073:Nalcn	UTSW	14	123,295,451 (GRCm38)	missense	possibly damaging	0.66
R9182:Nalcn	UTSW	14	123,596,604 (GRCm38)	missense	probably damaging	1.00
R9193:Nalcn	UTSW	14	123,308,380 (GRCm38)	nonsense	probably null
R9241:Nalcn	UTSW	14	123,572,017 (GRCm38)	missense	probably benign	0.00
R9267:Nalcn	UTSW	14	123,281,155 (GRCm38)	missense	probably benign	0.08
R9274:Nalcn	UTSW	14	123,515,656 (GRCm38)	missense	probably damaging	1.00
R9277:Nalcn	UTSW	14	123,281,111 (GRCm38)	missense	probably damaging	0.98
R9376:Nalcn	UTSW	14	123,278,301 (GRCm38)	missense	possibly damaging	0.74
X0060:Nalcn	UTSW	14	123,285,241 (GRCm38)	missense	probably damaging	1.00
Z1177:Nalcn	UTSW	14	123,594,568 (GRCm38)	missense	probably damaging	1.00
Z1177:Nalcn	UTSW	14	123,294,445 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCAAATATCTGGTGATGCTCATCCCA -3'
(R):5'- GTTCTCCAATCTCTCCCATGTTGCATAA -3'

Sequencing Primer
(F):5'- CTGGTGATGCTCATCCCATTATAAG -3'
(R):5'- tcaaaaagagcaacaagtcacc -3'

Posted On

2013-07-24