Mutagenetix > Incidental Mutation

Incidental Mutation 'R8731:Nalcn'

662770

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

A530023G15Rik, Vgcnl1

MMRRC Submission

068579-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8731 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123276634-123627144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123599854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 33 (I33V)

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: I33V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: I33V

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: 99.1%
20x: 95.9%

Validation Efficiency

100% (48/48)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 60,024,946 (GRCm38)	D294V	probably benign	Het
Abcc8	T	G	7: 46,154,562 (GRCm38)	Y396S	probably damaging	Het
Ace	T	A	11: 105,970,600 (GRCm38)	F192I	possibly damaging	Het
Apeh	A	G	9: 108,087,223 (GRCm38)	S494P	probably benign	Het
Bod1	A	G	11: 31,669,242 (GRCm38)		probably null	Het
Cap2	T	C	13: 46,646,530 (GRCm38)	M404T	probably benign	Het
Cc2d2a	A	T	5: 43,735,446 (GRCm38)	D1450V	probably damaging	Het
Cdk5rap2	A	T	4: 70,245,510 (GRCm38)		probably benign	Het
Clip1	A	C	5: 123,614,693 (GRCm38)	S342A		Het
Cox10	A	G	11: 63,964,219 (GRCm38)	F412S	probably damaging	Het
Cracr2a	T	G	6: 127,625,927 (GRCm38)		probably null	Het
Dcaf7	T	A	11: 106,054,722 (GRCm38)	M299K	possibly damaging	Het
Dffb	T	C	4: 153,974,644 (GRCm38)	T59A	possibly damaging	Het
Dgkd	A	G	1: 87,916,813 (GRCm38)	M234V	possibly damaging	Het
Disp1	A	T	1: 183,087,508 (GRCm38)	V1116E	possibly damaging	Het
Dpysl3	C	T	18: 43,438,092 (GRCm38)	C39Y	probably damaging	Het
Dync1h1	T	A	12: 110,640,584 (GRCm38)	V2565D	possibly damaging	Het
Fam227b	A	T	2: 126,126,978 (GRCm38)	Y59N	possibly damaging	Het
Gm21680	A	T	5: 25,968,232 (GRCm38)	V210D	probably damaging	Het
Gm57858	A	T	3: 36,035,285 (GRCm38)	N163K	probably benign	Het
Gnas	T	C	2: 174,284,906 (GRCm38)	V78A	probably benign	Het
Gpr179	T	C	11: 97,343,729 (GRCm38)	T509A	probably damaging	Het
Igfn1	A	G	1: 135,997,836 (GRCm38)	M60T	probably benign	Het
Llgl2	A	G	11: 115,851,190 (GRCm38)	Q686R	probably benign	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Mylk3	T	G	8: 85,359,005 (GRCm38)	E300A	probably benign	Het
Myo1b	A	C	1: 51,760,411 (GRCm38)		probably benign	Het
Myo9b	T	C	8: 71,353,842 (GRCm38)		probably null	Het
Nsl1	A	G	1: 191,082,412 (GRCm38)	Y270C	probably damaging	Het
Or5af1	C	T	11: 58,831,442 (GRCm38)	A96V	probably benign	Het
Otulin	A	G	15: 27,608,842 (GRCm38)	M205T	probably benign	Het
Plch1	A	T	3: 63,697,638 (GRCm38)	V1615E	probably benign	Het
Rab9	C	T	X: 166,457,758 (GRCm38)	D186N	probably benign	Het
Repin1	G	T	6: 48,597,345 (GRCm38)	E403*	probably null	Het
Scn3a	A	T	2: 65,468,163 (GRCm38)	Y1397*	probably null	Het
Scrib	A	T	15: 76,063,639 (GRCm38)	H549Q	probably benign	Het
Slc36a4	A	G	9: 15,719,752 (GRCm38)	I56V	possibly damaging	Het
Spata7	T	A	12: 98,658,282 (GRCm38)	S148T	probably damaging	Het
Stk31	T	A	6: 49,438,501 (GRCm38)	L590Q	probably benign	Het
Tanc1	T	C	2: 59,843,252 (GRCm38)	V1567A	probably benign	Het
Tspan33	T	C	6: 29,717,311 (GRCm38)	F237S	probably damaging	Het
Uhrf1	T	A	17: 56,322,363 (GRCm38)	L737Q	probably damaging	Het
Vmn2r2	A	G	3: 64,116,983 (GRCm38)	F726L	probably benign	Het
Vmn2r65	A	T	7: 84,940,239 (GRCm38)	L823*	probably null	Het
Vps11	T	C	9: 44,354,459 (GRCm38)	N508D	probably benign	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
R6523:Nalcn	UTSW	14	123,317,843 (GRCm38)	missense	probably benign	0.00
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
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'- TGGGAGACATTCATAGCAGCC -3'
(R):5'- CTCAATACTTTTGGTGGGAAAGGAAG -3'

Sequencing Primer
(F):5'- ATTCATAGCAGCCCCTCATC -3'
(R):5'- AAGTAGGTTAGGTGGCTAATAAGG -3'

Posted On

2021-03-08