Mutagenetix > Incidental Mutation

Incidental Mutation 'R0400:Nalcn'

38159

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

A530023G15Rik, Vgcnl1

MMRRC Submission

038605-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0400 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

123276634-123627144 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 123290960 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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	T	A	11: 30,426,360	H169L	probably benign	Het
9130230L23Rik	T	C	5: 65,990,356	D28G	unknown	Het
Abca12	T	A	1: 71,259,776		probably benign	Het
Acsl5	T	C	19: 55,293,711	V573A	probably damaging	Het
Agap1	A	G	1: 89,843,250		probably benign	Het
Arid2	A	G	15: 96,356,925		probably benign	Het
B430305J03Rik	T	A	3: 61,364,135		probably benign	Het
Brsk2	T	C	7: 141,998,553	L584P	probably damaging	Het
C2cd4c	A	G	10: 79,613,209	Y35H	probably damaging	Het
Cacul1	A	G	19: 60,563,153		probably benign	Het
Cers3	T	C	7: 66,764,330	V88A	probably benign	Het
Cnnm1	A	T	19: 43,468,364	H614L	probably damaging	Het
Col1a1	T	A	11: 94,941,369		probably benign	Het
Cyp1b1	T	A	17: 79,713,587	D242V	probably damaging	Het
Cyp4a31	T	C	4: 115,563,718	M1T	probably null	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Dclk2	A	T	3: 86,813,747		probably null	Het
Ddx58	A	G	4: 40,235,257	Y78H	probably benign	Het
Dnah17	A	G	11: 118,082,078	S2010P	probably damaging	Het
Dram2	T	C	3: 106,573,618	L246P	probably damaging	Het
Dus2	A	T	8: 106,048,677	T279S	probably benign	Het
Epn2	T	C	11: 61,532,696		probably null	Het
Esco2	C	A	14: 65,831,706	V52F	possibly damaging	Het
Fbp1	T	A	13: 62,865,068	T104S	probably benign	Het
Foxj2	A	T	6: 122,833,808	Q249L	possibly damaging	Het
Galnt7	T	C	8: 57,583,989	Y122C	probably damaging	Het
Gimd1	T	C	3: 132,634,827	Y35H	probably benign	Het
Gipc2	A	G	3: 152,165,668	F74L	probably damaging	Het
Glt1d1	T	A	5: 127,657,075		probably benign	Het
Hmcn2	A	G	2: 31,400,129	T2325A	probably damaging	Het
Iffo1	A	G	6: 125,153,471	K471R	probably damaging	Het
Ireb2	G	A	9: 54,896,498	R491H	probably benign	Het
Isg20	A	G	7: 78,916,725	N141D	possibly damaging	Het
Kmt5c	G	A	7: 4,746,244	R100H	probably benign	Het
Lrp1b	T	C	2: 40,750,914	D3506G	probably benign	Het
Lrrn4	A	C	2: 132,878,020	F287V	probably benign	Het
Mmrn1	A	C	6: 60,977,115	K793N	probably benign	Het
Muc16	A	G	9: 18,510,534	V8227A	possibly damaging	Het
Myh2	C	T	11: 67,192,598		probably benign	Het
Nfia	T	C	4: 98,063,136	V400A	probably damaging	Het
Nxph4	T	A	10: 127,526,258	T255S	possibly damaging	Het
Olfm5	G	A	7: 104,154,179	T359I	probably damaging	Het
Olfr141	A	G	2: 86,806,651	M116T	probably damaging	Het
Olfr393	T	C	11: 73,848,041	Y28C	probably benign	Het
Olfr907	A	G	9: 38,498,911	M81V	possibly damaging	Het
Olfr935	G	T	9: 38,995,198	P79Q	probably damaging	Het
Pak7	T	C	2: 136,097,579	I545M	possibly damaging	Het
Pcdhb15	T	C	18: 37,475,895	F727L	probably benign	Het
Pds5b	T	A	5: 150,723,353	N202K	possibly damaging	Het
Phlpp1	T	A	1: 106,392,934	I1553N	probably benign	Het
Pink1	T	C	4: 138,317,918	T282A	probably damaging	Het
Prdm2	A	G	4: 143,111,670	F1706S	probably benign	Het
Pycr1	G	A	11: 120,641,526		probably benign	Het
Skint9	A	G	4: 112,414,001	S71P	probably damaging	Het
Smad1	A	G	8: 79,371,770		probably benign	Het
Snapc5	A	T	9: 64,180,507	E33D	probably damaging	Het
Snrnp40	T	C	4: 130,362,650	L56P	probably damaging	Het
Stab2	A	C	10: 86,872,610	I1697S	probably damaging	Het
Tfap2a	G	T	13: 40,717,412		probably benign	Het
Tmem57	T	C	4: 134,828,116	K349E	probably benign	Het
Tph2	A	G	10: 115,080,120		probably benign	Het
Triml1	A	G	8: 43,141,040	V118A	probably benign	Het
Ttbk2	T	A	2: 120,750,242	T538S	probably benign	Het
Ttn	A	G	2: 76,715,272	V32569A	possibly damaging	Het
U2af1	T	A	17: 31,648,192	Y158F	probably benign	Het
Usp7	A	T	16: 8,716,632		probably benign	Het
Vdr	A	G	15: 97,869,351	S179P	probably benign	Het
Vps13d	A	C	4: 145,065,827	S663A	probably benign	Het
Wdr62	T	A	7: 30,241,462	T844S	possibly damaging	Het
Wipi1	C	T	11: 109,577,130	R407Q	probably damaging	Het
Zbtb43	A	G	2: 33,453,897	C439R	probably damaging	Het
Zfp507	T	A	7: 35,791,746	H704L	probably damaging	Het
Zzef1	G	A	11: 72,895,242	R2080K	probably damaging	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
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
R2016:Nalcn	UTSW	14	123594581	splice site	probably null
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
R7761:Nalcn	UTSW	14	123294379	missense	probably damaging	1.00
R7761:Nalcn	UTSW	14	123294380	missense	probably damaging	1.00
R7811:Nalcn	UTSW	14	123298945	missense	probably damaging	1.00
R7983:Nalcn	UTSW	14	123592997	missense	probably benign	0.17
R8089:Nalcn	UTSW	14	123299960	missense	probably damaging	1.00
R8110:Nalcn	UTSW	14	123464701	missense	probably benign	0.00
R8190:Nalcn	UTSW	14	123599939	missense	possibly damaging	0.69
R8273:Nalcn	UTSW	14	123317024	missense	probably damaging	1.00
R8407:Nalcn	UTSW	14	123317271	missense	probably damaging	1.00
R8497:Nalcn	UTSW	14	123515359	missense	probably damaging	1.00
R8544:Nalcn	UTSW	14	123371523	missense	probably benign	0.40
R8549:Nalcn	UTSW	14	123370036	missense	probably benign	0.01
R8731:Nalcn	UTSW	14	123599854	missense	probably benign	0.01
R8862:Nalcn	UTSW	14	123409787	missense	possibly damaging	0.96
R8919:Nalcn	UTSW	14	123323872	missense	probably benign	0.00
R9072:Nalcn	UTSW	14	123295451	missense	possibly damaging	0.66
R9073:Nalcn	UTSW	14	123295451	missense	possibly damaging	0.66
R9182:Nalcn	UTSW	14	123596604	missense	probably damaging	1.00
R9193:Nalcn	UTSW	14	123308380	nonsense	probably null
R9241:Nalcn	UTSW	14	123572017	missense	probably benign	0.00
R9267:Nalcn	UTSW	14	123281155	missense	probably benign	0.08
R9274:Nalcn	UTSW	14	123515656	missense	probably damaging	1.00
R9277:Nalcn	UTSW	14	123281111	missense	probably damaging	0.98
R9376:Nalcn	UTSW	14	123278301	missense	possibly damaging	0.74
X0060:Nalcn	UTSW	14	123285241	missense	probably damaging	1.00
Z1177:Nalcn	UTSW	14	123294445	missense	probably damaging	1.00
Z1177:Nalcn	UTSW	14	123594568	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCACTGCAAAGCAACAGTGAC -3'
(R):5'- TGAGAGACATGCCAGCTTGGAAAC -3'

Sequencing Primer
(F):5'- gagattgagcaggtaaacaatgg -3'
(R):5'- GCTTGGAAACTGTACTAAAAGCAC -3'

Posted On

2013-05-23