Mutagenetix > Incidental Mutation

Incidental Mutation 'R6970:Nalcn'

542212

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

A530023G15Rik, Vgcnl1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123276634-123627144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123314094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1034 (F1034L)

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: F1034L

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: F1034L

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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
1700017D01Rik	A	G	19: 11,112,314		probably null	Het
2410089E03Rik	T	C	15: 8,187,548	V750A	probably benign	Het
Acadsb	T	C	7: 131,434,315	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,345,668	S285P	probably benign	Het
Adcy10	A	G	1: 165,556,916	N1082S	probably benign	Het
Ahdc1	T	A	4: 133,062,345	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,772,600		probably benign	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,738,462	V543A	probably damaging	Het
BC034090	T	A	1: 155,241,439	D311V	probably damaging	Het
Blnk	G	T	19: 40,962,377	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,718,585	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,709,533	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,615,958	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,457,220	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,989,977	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,118,137	F188L	probably benign	Het
Dclk1	A	T	3: 55,466,601		probably benign	Het
Ddx20	A	T	3: 105,680,358	L434H	probably damaging	Het
Ddx51	G	A	5: 110,656,862	V547M	probably damaging	Het
Dnah11	T	A	12: 118,108,944	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,507,422	E149G	probably damaging	Het
Fat4	A	G	3: 38,981,775	N3192S	probably damaging	Het
Fat4	A	T	3: 38,995,971	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,284,620		probably null	Het
Gm11639	A	G	11: 104,776,356	E1422G	probably benign	Het
Gm12185	G	A	11: 48,907,912	R585*	probably null	Het
Gm32687	A	G	10: 81,879,470	H232R	probably benign	Het
Gm5431	G	T	11: 48,888,490	A535D	probably damaging	Het
Gm8300	G	T	12: 87,516,618		probably benign	Het
Gm906	A	T	13: 50,246,971	Y440N	possibly damaging	Het
Jarid2	C	T	13: 44,902,985	P556S	probably damaging	Het
Map3k4	C	A	17: 12,248,916	G1077V	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlxip	A	G	5: 123,445,672	T433A	possibly damaging	Het
Mus81	G	T	19: 5,485,526	H199Q	probably benign	Het
Mylk3	G	A	8: 85,359,263	T54M	probably damaging	Het
Nfatc1	A	C	18: 80,667,013	S513A	probably benign	Het
Ninj2	A	G	6: 120,198,131	I88V	possibly damaging	Het
Nomo1	C	T	7: 46,045,967	P277L	probably damaging	Het
Nup214	C	T	2: 32,051,798	S571L	probably damaging	Het
Olfr1469	T	A	19: 13,411,428	N286K	probably damaging	Het
Olfr461	T	C	6: 40,544,656	S108G	probably benign	Het
Olfr980	T	A	9: 40,006,713	M79L	probably benign	Het
Pcdh15	C	T	10: 74,502,687	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,511,674	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,125,116	C34R	probably damaging	Het
Plekha2	T	C	8: 25,059,264	Q168R	probably benign	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plekhm3	T	G	1: 64,892,753	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,530,546	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,329,823	Y302*	probably null	Het
Prdm8	A	G	5: 98,184,612	E124G	probably damaging	Het
Prg4	T	G	1: 150,455,906		probably benign	Het
Qser1	A	G	2: 104,788,130	V779A	probably benign	Het
Rbm39	G	A	2: 156,167,584	R123C	probably damaging	Het
Ric1	C	T	19: 29,587,772	P640S	probably damaging	Het
Rpl14	G	A	9: 120,574,227		probably benign	Het
Rsl1d1	T	A	16: 11,193,694	D382V	probably benign	Het
Rubcn	G	T	16: 32,868,144		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,356,972	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,316,096	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,179,831	Y674S	probably damaging	Het
Strc	A	C	2: 121,378,014	M292R	probably benign	Het
Syde2	A	G	3: 145,988,626	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,755,048	A97E	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tepsin	G	A	11: 120,095,364	T168M	probably damaging	Het
Tex15	A	T	8: 33,557,428	M178L	probably benign	Het
Tgfbr2	T	C	9: 116,110,051	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,727,989	V2531A	probably damaging	Het
Ttn	T	G	2: 76,895,423		probably benign	Het
Tubgcp3	G	T	8: 12,637,000	D630E	probably damaging	Het
Ubr4	G	A	4: 139,406,528	W745*	probably null	Het
Vmn2r115	G	A	17: 23,346,015	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,075,341	K681*	probably null	Het
Xrcc6	A	G	15: 82,031,174	K98E	probably benign	Het
Zfp423	A	G	8: 87,803,779	V13A	probably benign	Het
Zfp512b	A	G	2: 181,586,348	I5T	possibly damaging	Het
Zmynd8	C	T	2: 165,875,750	E14K	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
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
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
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'- ACCTTCTACCAGGAAGAGACATACTG -3'
(R):5'- GATGAATGAGTGGCCCATGG -3'

Sequencing Primer
(F):5'- CAGGAAGAGACATACTGTGTGCTTAC -3'
(R):5'- TGGCCCATGGTGGAGAAGTTAG -3'

Posted On

2018-11-28