Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Nalcn'

214132

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

A530023G15Rik, Vgcnl1

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123276634-123627144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123316126 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 972 (M972K)

Ref Sequence

ENSEMBL: ENSMUSP00000000201 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000201
AA Change: M972K

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: M972K

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

Meta Mutation Damage Score

0.4538

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297		probably benign	Het
Atg2a	C	A	19: 6,245,067	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642	D167G	possibly damaging	Het
Calr4	T	G	4: 109,246,293		probably null	Het
Camsap3	G	T	8: 3,603,922	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780		probably benign	Het
Chst14	A	G	2: 118,927,015	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,675,813	M748V	probably benign	Het
Col7a1	A	G	9: 108,978,888	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033	R274*	probably null	Het
Dexi	A	G	16: 10,542,518	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050		probably benign	Het
Dusp10	A	T	1: 184,069,180	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842		probably benign	Het
Fam83f	A	T	15: 80,692,080	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532	S167*	probably null	Het
Glg1	T	G	8: 111,165,674	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,520,455		probably benign	Het
Larp1b	T	A	3: 40,964,084	D53E	probably benign	Het
Ltf	T	C	9: 111,022,845	F117L	possibly damaging	Het
Maml1	A	G	11: 50,266,130	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831	Y111C	probably damaging	Het
Mto1	T	C	9: 78,461,517		probably benign	Het
Nemf	T	C	12: 69,346,378	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866		probably benign	Het
Nlrp5	A	G	7: 23,404,797	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Piezo1	T	C	8: 122,489,566	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070		probably benign	Het
Ryr2	A	T	13: 11,591,336	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema4f	A	G	6: 82,918,029	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337		probably null	Het
Sik2	A	T	9: 50,995,674		probably benign	Het
Smtn	G	T	11: 3,531,326	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580		probably benign	Het
Tacc2	T	G	7: 130,624,202	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,633		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tlx3	T	C	11: 33,203,072	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216		probably null	Het
Trak2	A	T	1: 58,946,336	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460		probably null	Het
Uso1	T	A	5: 92,201,192	S819T	probably benign	Het
Yes1	A	T	5: 32,645,051	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037	Q288L	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
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'- GATTGTCTCAAACATGAAGCAGGTG -3'
(R):5'- CCAACTCTCTGCAGGCATAG -3'

Sequencing Primer
(F):5'- TGGGTGGCAGCTTCACGTAC -3'
(R):5'- CTCTCTGCAGGCATAGAATATACTC -3'

Posted On

2014-07-14