Mutagenetix > Incidental Mutations

Incidental Mutation 'R2016:Nalcn'

223099

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

A530023G15Rik, Vgcnl1

MMRRC Submission

040025-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123276634-123627144 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 123594581 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000201]

Predicted Effect

probably null
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: ENSMUST00000226617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228860

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 165,079,026	D29G	unknown	Het
Abca13	A	T	11: 9,290,619	L827F	probably damaging	Het
Abca8a	A	G	11: 110,070,387	F570L	probably damaging	Het
Adck1	T	A	12: 88,461,092	I493N	probably damaging	Het
Adra2c	T	C	5: 35,280,312	C143R	probably damaging	Het
Akap13	C	T	7: 75,704,531	T1800M	probably damaging	Het
Angpt2	T	C	8: 18,705,731	N240S	probably damaging	Het
Apob	G	A	12: 8,007,751	D2078N	possibly damaging	Het
Atp8b1	T	C	18: 64,540,334	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,836,621	D189G	probably damaging	Het
Bcam	G	A	7: 19,760,349	T374M	probably benign	Het
Blm	T	C	7: 80,505,926	D335G	probably benign	Het
Cbfa2t2	T	C	2: 154,517,807	L264P	probably damaging	Het
Col4a2	T	C	8: 11,445,086	F1515L	probably benign	Het
Csf2ra	T	G	19: 61,226,893	M95L	probably benign	Het
Cyp2c70	T	A	19: 40,164,412	T300S	possibly damaging	Het
Cyp4f15	A	T	17: 32,702,159	H440L	probably damaging	Het
Dcaf1	T	A	9: 106,839,088	D360E	probably benign	Het
Ddr2	T	C	1: 169,984,968	M652V	probably damaging	Het
Dnah2	T	A	11: 69,437,070	I3370F	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Efemp1	G	T	11: 28,921,613	R376L	probably damaging	Het
Efl1	A	C	7: 82,753,709	D673A	probably damaging	Het
Eid1	A	G	2: 125,673,201	M4V	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Emilin3	G	A	2: 160,909,610	R170C	possibly damaging	Het
Erap1	T	C	13: 74,664,151	W362R	probably damaging	Het
Fam208b	A	T	13: 3,576,770	I1060K	probably benign	Het
Fam234a	A	G	17: 26,218,316	F91L	probably benign	Het
Fam71e2	A	T	7: 4,759,398	I244N	probably damaging	Het
Flnc	G	A	6: 29,443,797		probably null	Het
Fsip2	A	G	2: 82,982,732	K3132E	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably benign	Het
Gnl3	A	G	14: 31,016,369		probably null	Het
Has1	A	T	17: 17,848,270	I274N	probably damaging	Het
Itsn1	T	C	16: 91,905,501		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Kif13a	T	C	13: 46,810,799	D475G	probably benign	Het
Klhl20	A	T	1: 161,103,038	M298K	probably damaging	Het
Kynu	G	T	2: 43,604,277	G241*	probably null	Het
Lrif1	G	T	3: 106,732,206	L202F	possibly damaging	Het
Lrp5	T	C	19: 3,610,056	K1003E	probably benign	Het
Mamdc2	T	C	19: 23,334,029	D487G	probably damaging	Het
Mapk8ip1	A	G	2: 92,391,034		probably null	Het
Mettl25	T	A	10: 105,797,306	E425D	probably benign	Het
Midn	G	T	10: 80,150,115	R13L	possibly damaging	Het
Mtmr9	T	C	14: 63,540,264	Y136C	possibly damaging	Het
Mylk	G	A	16: 34,996,817	V61M	probably damaging	Het
Nle1	G	T	11: 82,905,547	P166Q	probably damaging	Het
Nr4a3	G	A	4: 48,083,252	C595Y	probably damaging	Het
Olfr1133	C	T	2: 87,646,052	V24M	probably benign	Het
Olfr1288	G	T	2: 111,479,187	M134I	probably benign	Het
Olfr724	A	G	14: 49,960,502	I190T	probably benign	Het
Olfr906	A	T	9: 38,488,013		probably null	Het
Olfr963	A	G	9: 39,669,555	Y166C	probably damaging	Het
Pds5a	T	A	5: 65,648,007		probably null	Het
Pitpnm1	T	C	19: 4,111,873	V955A	probably benign	Het
Plcb1	T	A	2: 135,362,420	I898N	possibly damaging	Het
Plcl2	G	A	17: 50,606,694	V244M	probably damaging	Het
Plk1	A	G	7: 122,162,440	K257R	probably damaging	Het
Prkcg	A	T	7: 3,323,550	T460S	probably damaging	Het
Prl7d1	G	A	13: 27,710,173	H138Y	probably damaging	Het
Prss35	A	G	9: 86,755,512	S112G	probably benign	Het
Ptprj	C	T	2: 90,464,614	V417M	probably damaging	Het
Pwwp2b	A	T	7: 139,256,151	I503F	possibly damaging	Het
Rasgrp2	T	C	19: 6,413,165	V498A	probably benign	Het
Sall1	A	G	8: 89,028,409	V1314A	probably benign	Het
Sema6c	A	G	3: 95,171,234	I549V	probably benign	Het
Slc17a1	A	G	13: 23,878,539	S230G	probably benign	Het
Slc5a4a	T	G	10: 76,153,580	F106V	probably benign	Het
Spata5	T	C	3: 37,578,762	V839A	possibly damaging	Het
Stat6	T	C	10: 127,650,796	L147P	probably damaging	Het
Taar7d	T	A	10: 24,027,744	S175T	probably benign	Het
Tmem132b	A	G	5: 125,623,016	Q206R	probably benign	Het
Tmem229a	T	C	6: 24,955,062	D231G	probably benign	Het
Trim66	A	G	7: 109,472,232		probably null	Het
Ttc30a1	A	G	2: 75,981,457	L94P	probably benign	Het
Ttll9	A	T	2: 153,002,294	E374V	probably damaging	Het
Vmn2r69	A	T	7: 85,407,285	D548E	probably damaging	Het
Zcchc2	T	A	1: 106,004,121		probably null	Het
Zfp282	T	A	6: 47,897,787		probably null	Het
Zfp352	A	G	4: 90,225,171	E516G	probably benign	Het

Other mutations in Nalcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Nalcn	APN	14	123348789	missense	probably benign	0.00
IGL00964:Nalcn	APN	14	123295384	splice site	probably benign
IGL01310:Nalcn	APN	14	123317249	missense	probably benign	0.00
IGL01578:Nalcn	APN	14	123572091	missense	probably benign	0.00
IGL01925:Nalcn	APN	14	123291848	missense	possibly damaging	0.88
IGL02072:Nalcn	APN	14	123323358	missense	probably benign	0.05
IGL02096:Nalcn	APN	14	123594503	missense	probably benign	0.11
IGL02212:Nalcn	APN	14	123515330	missense	probably damaging	0.99
IGL02306:Nalcn	APN	14	123323338	missense	probably benign	0.07
IGL02471:Nalcn	APN	14	123323314	missense	probably benign	0.02
IGL02478:Nalcn	APN	14	123321305	missense	probably benign	0.26
IGL02551:Nalcn	APN	14	123323338	missense	probably benign	0.07
IGL02630:Nalcn	APN	14	123317879	missense	probably benign	0.16
IGL02632:Nalcn	APN	14	123317853	missense	probably benign	0.11
IGL02661:Nalcn	APN	14	123592909	splice site	probably benign
IGL02830:Nalcn	APN	14	123293469	missense	probably damaging	0.98
IGL02939:Nalcn	APN	14	123298872	missense	probably null	1.00
IGL03035:Nalcn	APN	14	123278218	nonsense	probably null
IGL03226:Nalcn	APN	14	123281115	missense	probably benign	0.00
IGL03242:Nalcn	APN	14	123321487	missense	possibly damaging	0.91
Narnia	UTSW	14	123291047	missense	probably benign	0.11
R0019:Nalcn	UTSW	14	123507489	missense	probably benign	0.18
R0144:Nalcn	UTSW	14	123371536	missense	probably damaging	0.96
R0144:Nalcn	UTSW	14	123409839	splice site	probably benign
R0359:Nalcn	UTSW	14	123299168	missense	probably damaging	1.00
R0383:Nalcn	UTSW	14	123507559	missense	probably benign	0.01
R0400:Nalcn	UTSW	14	123290960	splice site	probably benign
R0467:Nalcn	UTSW	14	123291047	missense	probably benign	0.11
R0506:Nalcn	UTSW	14	123596614	missense	possibly damaging	0.82
R0583:Nalcn	UTSW	14	123294343	missense	possibly damaging	0.46
R0620:Nalcn	UTSW	14	123299141	splice site	probably benign
R0624:Nalcn	UTSW	14	123370032	missense	probably benign
R0883:Nalcn	UTSW	14	123464740	missense	probably damaging	1.00
R1381:Nalcn	UTSW	14	123314105	missense	probably damaging	1.00
R1467:Nalcn	UTSW	14	123464656	splice site	probably benign
R1689:Nalcn	UTSW	14	123285254	missense	probably damaging	1.00
R1726:Nalcn	UTSW	14	123308404	missense	probably damaging	1.00
R1774:Nalcn	UTSW	14	123278266	missense	probably benign
R1854:Nalcn	UTSW	14	123460412	missense	probably damaging	1.00
R1869:Nalcn	UTSW	14	123594553	missense	possibly damaging	0.96
R1871:Nalcn	UTSW	14	123594553	missense	possibly damaging	0.96
R1873:Nalcn	UTSW	14	123283601	missense	probably benign	0.00
R1899:Nalcn	UTSW	14	123316126	missense	possibly damaging	0.50
R1915:Nalcn	UTSW	14	123302769	missense	probably benign	0.08
R2034:Nalcn	UTSW	14	123283603	missense	probably benign	0.01
R2087:Nalcn	UTSW	14	123281145	missense	probably benign
R2149:Nalcn	UTSW	14	123370017	missense	probably benign	0.01
R2157:Nalcn	UTSW	14	123409752	missense	probably benign	0.32
R2166:Nalcn	UTSW	14	123369951	missense	probably benign	0.00
R2932:Nalcn	UTSW	14	123593018	missense	probably benign	0.06
R3408:Nalcn	UTSW	14	123596617	missense	probably null	0.98
R3778:Nalcn	UTSW	14	123464716	missense	probably damaging	1.00
R3807:Nalcn	UTSW	14	123278187	missense	probably damaging	1.00
R3835:Nalcn	UTSW	14	123293422	splice site	probably benign
R3937:Nalcn	UTSW	14	123369945	missense	probably benign	0.00
R4001:Nalcn	UTSW	14	123596594	missense	probably damaging	1.00
R4015:Nalcn	UTSW	14	123486387	missense	probably damaging	1.00
R4033:Nalcn	UTSW	14	123599989	splice site	probably benign
R4231:Nalcn	UTSW	14	123599913	missense	probably benign	0.01
R4464:Nalcn	UTSW	14	123323350	missense	probably benign
R4512:Nalcn	UTSW	14	123295448	missense	probably damaging	1.00
R4542:Nalcn	UTSW	14	123321477	synonymous	silent
R4557:Nalcn	UTSW	14	123321235	intron	probably benign
R4869:Nalcn	UTSW	14	123599884	missense	probably benign	0.44
R5083:Nalcn	UTSW	14	123323294	splice site	probably null
R5109:Nalcn	UTSW	14	123278238	missense	possibly damaging	0.86
R5131:Nalcn	UTSW	14	123515770	missense	probably damaging	0.98
R5158:Nalcn	UTSW	14	123515737	missense	probably damaging	1.00
R5259:Nalcn	UTSW	14	123515651	missense	possibly damaging	0.94
R5422:Nalcn	UTSW	14	123515365	missense	probably damaging	1.00
R5514:Nalcn	UTSW	14	123283711	missense	probably benign	0.14
R5523:Nalcn	UTSW	14	123409743	missense	probably damaging	1.00
R5551:Nalcn	UTSW	14	123278286	missense	possibly damaging	0.57
R5667:Nalcn	UTSW	14	123295406	missense	probably damaging	1.00
R5671:Nalcn	UTSW	14	123295406	missense	probably damaging	1.00
R5750:Nalcn	UTSW	14	123572038	missense	probably benign
R5765:Nalcn	UTSW	14	123464726	missense	possibly damaging	0.46
R6324:Nalcn	UTSW	14	123409749	missense	possibly damaging	0.83
R6523:Nalcn	UTSW	14	123317843	missense	probably benign	0.00
R6558:Nalcn	UTSW	14	123486507	missense	probably benign
R6631:Nalcn	UTSW	14	123460251	missense	probably benign	0.17
R6667:Nalcn	UTSW	14	123321323	missense	probably damaging	1.00
R6670:Nalcn	UTSW	14	123464672	missense	possibly damaging	0.96
R6724:Nalcn	UTSW	14	123298067	missense	probably damaging	0.99
R6731:Nalcn	UTSW	14	123599934	missense	probably benign	0.22
R6957:Nalcn	UTSW	14	123507554	missense	probably damaging	0.96
R6970:Nalcn	UTSW	14	123314094	missense	possibly damaging	0.46
R7010:Nalcn	UTSW	14	123293465	missense	probably damaging	1.00
R7018:Nalcn	UTSW	14	123409821	missense	probably damaging	1.00
R7040:Nalcn	UTSW	14	123287855	missense	probably benign
R7089:Nalcn	UTSW	14	123278349	missense	probably benign	0.01
R7128:Nalcn	UTSW	14	123594502	missense	probably damaging	0.99
R7149:Nalcn	UTSW	14	123599865	missense	probably benign	0.02
R7361:Nalcn	UTSW	14	123291839	missense	probably benign	0.00
R7378:Nalcn	UTSW	14	123302890	missense	probably damaging	1.00
R7408:Nalcn	UTSW	14	123291860	missense	probably benign	0.00
R7470:Nalcn	UTSW	14	123572044	missense	probably benign	0.09
R7483:Nalcn	UTSW	14	123314087	missense	probably damaging	1.00
R7521:Nalcn	UTSW	14	123293458	missense	probably damaging	1.00
R7558:Nalcn	UTSW	14	123486385	critical splice donor site	probably null
R7585:Nalcn	UTSW	14	123515638	missense	probably damaging	1.00
R7591:Nalcn	UTSW	14	123323885	missense	probably benign	0.01
X0060:Nalcn	UTSW	14	123285241	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCCACATTTGAAATGCATTC -3'
(R):5'- AAGCGCTCATTAGCCTCTGTTAC -3'

Sequencing Primer
(F):5'- CCACATTTGAAATGCATTCCTTAATG -3'
(R):5'- ACTGTTGATGGCTTTGACT -3'

Posted On

2014-08-25