Mutagenetix > Incidental Mutation

Incidental Mutation 'R6523:Nalcn'

521551

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

A530023G15Rik, Vgcnl1

MMRRC Submission

044649-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123276634-123627144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123317843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 876 (H876L)

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
AA Change: H876L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: H876L

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

0.0800

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,332,553 (GRCm38)		probably null	Het
Alg2	A	T	4: 47,472,071 (GRCm38)	S246T	possibly damaging	Het
Ankfy1	G	A	11: 72,730,482 (GRCm38)	R198Q	possibly damaging	Het
Arid4a	A	G	12: 71,067,341 (GRCm38)		probably null	Het
AU040320	G	A	4: 126,868,760 (GRCm38)		probably null	Het
B430306N03Rik	A	G	17: 48,319,165 (GRCm38)	T129A	possibly damaging	Het
Blvrb	C	A	7: 27,465,717 (GRCm38)		probably null	Het
Ccdc175	T	C	12: 72,144,791 (GRCm38)	N337S	probably benign	Het
Ccdc28b	A	C	4: 129,620,987 (GRCm38)	F110V	probably damaging	Het
Cd200	A	G	16: 45,400,270 (GRCm38)	Y16H	probably benign	Het
Cfh	T	G	1: 140,101,707 (GRCm38)	E950A	possibly damaging	Het
Clec3a	A	T	8: 114,425,605 (GRCm38)	Y117F	probably damaging	Het
CN725425	A	G	15: 91,231,581 (GRCm38)	S9G	probably benign	Het
Coasy	T	A	11: 101,086,118 (GRCm38)	W535R	probably damaging	Het
Cox4i1	T	A	8: 120,672,741 (GRCm38)	S30R	probably benign	Het
Csnk1a1	G	A	18: 61,555,758 (GRCm38)	S3N	probably benign	Het
Dcst2	C	G	3: 89,373,501 (GRCm38)	L669V	probably benign	Het
Dnah14	A	G	1: 181,643,621 (GRCm38)	I1346V	probably benign	Het
Fbxw24	G	A	9: 109,604,980 (GRCm38)	R421*	probably null	Het
Fstl5	G	A	3: 76,536,334 (GRCm38)	V329I	probably benign	Het
Gli3	T	C	13: 15,713,650 (GRCm38)		probably null	Het
Gna11	A	T	10: 81,544,854 (GRCm38)	I25N	probably damaging	Het
Greb1	C	T	12: 16,684,373 (GRCm38)	V1539I	possibly damaging	Het
Hipk3	T	A	2: 104,439,408 (GRCm38)	T479S	possibly damaging	Het
Hspa1b	A	G	17: 34,957,191 (GRCm38)	I606T	probably benign	Het
Idnk	T	A	13: 58,163,643 (GRCm38)	F141L	probably damaging	Het
Ifit3	A	G	19: 34,588,155 (GRCm38)	N367S	probably benign	Het
Kcnn1	A	T	8: 70,846,525 (GRCm38)	D448E	possibly damaging	Het
Krt14	T	C	11: 100,205,097 (GRCm38)	T212A	possibly damaging	Het
Ldlr	G	A	9: 21,737,253 (GRCm38)	C285Y	probably damaging	Het
Mark3	G	A	12: 111,627,235 (GRCm38)	V234I	probably damaging	Het
Meikin	T	A	11: 54,398,501 (GRCm38)	Y233*	probably null	Het
Mtcl2	G	A	2: 157,060,343 (GRCm38)	Q251*	probably null	Het
Muc20	T	C	16: 32,793,450 (GRCm38)	D519G	possibly damaging	Het
Ncaph	A	T	2: 127,105,889 (GRCm38)	I698K	probably damaging	Het
Nipal1	A	T	5: 72,667,608 (GRCm38)	I215F	probably damaging	Het
Nrde2	A	T	12: 100,134,405 (GRCm38)	D607E	possibly damaging	Het
Nt5dc2	T	C	14: 31,135,705 (GRCm38)	F217S	probably damaging	Het
Ntsr2	T	A	12: 16,656,696 (GRCm38)	S156T	probably benign	Het
Olfr271-ps1	A	T	4: 52,935,500 (GRCm38)	I261N	probably damaging	Het
Or5b110-ps1	A	C	19: 13,282,364 (GRCm38)	D231E	probably benign	Het
Or5p4	A	C	7: 108,081,555 (GRCm38)	T254P	probably benign	Het
Pfas	A	T	11: 68,990,457 (GRCm38)	I1028K	probably benign	Het
Pnpla5	C	A	15: 84,115,711 (GRCm38)	R329L	possibly damaging	Het
Pramel30	T	C	4: 144,331,648 (GRCm38)	V275A	probably benign	Het
Rhot2	A	G	17: 25,839,420 (GRCm38)	V393A	possibly damaging	Het
Rigi	T	A	4: 40,205,947 (GRCm38)	T882S	probably benign	Het
Rnase9	T	A	14: 51,039,227 (GRCm38)	Y98F	possibly damaging	Het
Sacs	C	A	14: 61,202,961 (GRCm38)	L819I	probably damaging	Het
Sall3	C	T	18: 80,973,188 (GRCm38)	M508I	possibly damaging	Het
Scube3	G	A	17: 28,162,388 (GRCm38)	C301Y	probably damaging	Het
Sgo2b	G	T	8: 63,927,504 (GRCm38)	H765N	probably benign	Het
Sh3gl1	A	T	17: 56,017,617 (GRCm38)	Y344N	possibly damaging	Het
Slc15a2	A	G	16: 36,752,321 (GRCm38)	V635A	probably benign	Het
Slc1a4	T	A	11: 20,332,114 (GRCm38)	Y40F	probably damaging	Het
Slc4a10	A	T	2: 62,286,961 (GRCm38)	K755*	probably null	Het
Slco1a5	C	T	6: 142,266,395 (GRCm38)	G38R	probably damaging	Het
Snx25	T	A	8: 46,055,855 (GRCm38)	D564V	probably damaging	Het
Spon1	T	A	7: 113,886,785 (GRCm38)	D189E	probably benign	Het
Sptbn5	T	C	2: 120,065,614 (GRCm38)		probably null	Het
Ssbp2	A	G	13: 91,693,051 (GRCm38)	I317V	probably benign	Het
Stil	AAGATTTCCAG	A	4: 115,032,714 (GRCm38)		probably null	Het
Strn3	A	T	12: 51,643,098 (GRCm38)		probably null	Het
Tcaf2	A	T	6: 42,643,019 (GRCm38)	F25I	probably benign	Het
Themis	C	T	10: 28,781,898 (GRCm38)	T154I	possibly damaging	Het
Ttn	T	C	2: 76,796,046 (GRCm38)	R13176G	probably damaging	Het
Utp4	G	A	8: 106,898,463 (GRCm38)	V125M	probably damaging	Het
Vmn1r119	T	A	7: 21,011,852 (GRCm38)	M202L	possibly damaging	Het
Zfp292	G	C	4: 34,816,301 (GRCm38)	F329L	probably benign	Het
Zfp541	C	T	7: 16,095,520 (GRCm38)	P1281L	probably damaging	Het
Zfp616	A	T	11: 74,083,142 (GRCm38)	Q79L	possibly 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	123,409,839 (GRCm38)	splice site	probably benign
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
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	123,294,380 (GRCm38)	missense	probably damaging	1.00
R7761:Nalcn	UTSW	14	123,294,379 (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'- TGTATTCTTGAACCCGGGTCTC -3'
(R):5'- CAGTAATGTGCGGTTCCATACATC -3'

Sequencing Primer
(F):5'- ACACATGAGGCCATATCTGG -3'
(R):5'- GTGCGGTTCCATACATCATAATAGTC -3'

Posted On

2018-06-06