Mutagenetix > Incidental Mutation

Incidental Mutation 'R7761:Nalcn'

597895

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

Vgcnl1, A530023G15Rik

MMRRC Submission

045817-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7761 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123514046-123864556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 123531792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1353 (G1353R)

Ref Sequence

ENSEMBL: ENSMUSP00000000201 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000201
AA Change: G1353R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: G1353R

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (72/75)

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
Abca12	C	T	1: 71,369,447 (GRCm39)	C378Y	probably damaging	Het
Adcy6	A	C	15: 98,497,895 (GRCm39)	L421R	probably damaging	Het
AI837181	A	G	19: 5,476,319 (GRCm39)	T161A	probably benign	Het
Ascl2	A	G	7: 142,521,840 (GRCm39)	S203P	possibly damaging	Het
Casq2	G	T	3: 102,052,580 (GRCm39)	W364L	probably damaging	Het
Cdc20	T	C	4: 118,293,186 (GRCm39)	T245A	possibly damaging	Het
Cfap99	C	T	5: 34,480,774 (GRCm39)	Q475*	probably null	Het
Chmp2b	G	A	16: 65,343,745 (GRCm39)	T104I	possibly damaging	Het
Cimap1c	A	G	9: 56,759,822 (GRCm39)	L16P	unknown	Het
Cln3	A	T	7: 126,180,886 (GRCm39)	Y52N	probably damaging	Het
Cpm	A	G	10: 117,519,340 (GRCm39)	Y416C	possibly damaging	Het
Creb3l3	T	C	10: 80,920,833 (GRCm39)	D399G	possibly damaging	Het
Csnk2a1-ps3	A	T	1: 156,352,707 (GRCm39)	K303*	probably null	Het
Dbnl	A	G	11: 5,738,597 (GRCm39)	Q13R	probably benign	Het
Dnah11	T	A	12: 117,987,648 (GRCm39)	Q2418L	probably damaging	Het
Echs1	A	T	7: 139,692,378 (GRCm39)	I123N	probably damaging	Het
Exd2	T	C	12: 80,522,546 (GRCm39)	S2P	probably damaging	Het
F2rl1	A	G	13: 95,650,382 (GRCm39)	F167L	probably damaging	Het
Fam83g	C	A	11: 61,575,584 (GRCm39)	D75E	possibly damaging	Het
Fes	T	C	7: 80,030,615 (GRCm39)	D558G	probably damaging	Het
Ggnbp2	A	T	11: 84,730,803 (GRCm39)		probably null	Het
Gm10283	A	T	8: 60,954,236 (GRCm39)		probably null	Het
Gm14410	T	C	2: 176,885,527 (GRCm39)	N246D	probably benign	Het
Gpr39	A	T	1: 125,605,249 (GRCm39)	Q59L	probably damaging	Het
Hic1	C	T	11: 75,058,200 (GRCm39)	A230T	probably damaging	Het
Hmcn1	A	G	1: 150,598,196 (GRCm39)	L1702P	possibly damaging	Het
Kif13a	A	T	13: 46,951,955 (GRCm39)	Y773N	probably benign	Het
Lins1	A	T	7: 66,363,853 (GRCm39)	R583*	probably null	Het
Lrch4	T	A	5: 137,638,025 (GRCm39)	H102Q		Het
Ltn1	T	C	16: 87,208,681 (GRCm39)	T806A	probably benign	Het
Luc7l2	G	A	6: 38,531,999 (GRCm39)		probably null	Het
Mdfic	T	C	6: 15,728,055 (GRCm39)	I25T	unknown	Het
Muc16	G	T	9: 18,491,870 (GRCm39)	T6727N	probably damaging	Het
Nbeal1	C	T	1: 60,358,500 (GRCm39)	P2476S	probably benign	Het
Nell2	T	C	15: 95,330,550 (GRCm39)	T233A	probably damaging	Het
Nobox	G	A	6: 43,281,125 (GRCm39)	Q450*	probably null	Het
Nostrin	T	G	2: 68,991,466 (GRCm39)	L153R	possibly damaging	Het
Nup160	T	C	2: 90,533,456 (GRCm39)	V635A	probably benign	Het
Opn4	T	A	14: 34,320,809 (GRCm39)	M84L	probably benign	Het
Or4f14	T	A	2: 111,743,222 (GRCm39)	T18S	probably benign	Het
Or4f53	T	C	2: 111,087,519 (GRCm39)	S20P	possibly damaging	Het
Or4k77	C	T	2: 111,199,138 (GRCm39)	H54Y	probably benign	Het
Or56a42-ps1	A	G	7: 104,775,926 (GRCm39)	I184T	probably benign	Het
Papolg	T	C	11: 23,841,884 (GRCm39)	Q13R	probably benign	Het
Pax6	T	G	2: 105,522,036 (GRCm39)	F231C	probably damaging	Het
Pcdha3	T	C	18: 37,079,347 (GRCm39)	Y30H	probably damaging	Het
Pkhd1l1	A	G	15: 44,393,280 (GRCm39)	T1872A	probably benign	Het
Pln	T	C	10: 53,220,005 (GRCm39)	S16P	probably damaging	Het
Ppp4r3a	C	T	12: 101,022,080 (GRCm39)	E308K	probably damaging	Het
Prp2	C	T	6: 132,577,306 (GRCm39)	Q198*	probably null	Het
Ptpn20	T	A	14: 33,344,509 (GRCm39)	S144R	probably benign	Het
Pum3	A	T	19: 27,404,492 (GRCm39)	F10L	probably benign	Het
Rapgefl1	A	T	11: 98,728,485 (GRCm39)	D169V	probably benign	Het
Rbm12b1	T	C	4: 12,146,460 (GRCm39)	Y811H	possibly damaging	Het
Rcor1	T	A	12: 111,076,297 (GRCm39)	F418L		Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Samd11	T	C	4: 156,332,282 (GRCm39)	T520A	probably benign	Het
Scn3a	T	A	2: 65,359,798 (GRCm39)	T137S	possibly damaging	Het
Sgo2b	T	C	8: 64,379,946 (GRCm39)	N962S	probably benign	Het
Slc39a12	T	A	2: 14,439,141 (GRCm39)	I465N	probably benign	Het
Spcs1	T	A	14: 30,723,607 (GRCm39)		probably benign	Het
Stard9	T	C	2: 120,529,860 (GRCm39)	V2039A	probably benign	Het
Syt11	G	T	3: 88,669,778 (GRCm39)	T38K	possibly damaging	Het
Tcf7l2	T	A	19: 55,914,468 (GRCm39)	C454S	probably damaging	Het
Tfap2a	G	C	13: 40,878,656 (GRCm39)	H155D	probably benign	Het
Trim46	T	C	3: 89,149,565 (GRCm39)	K273R	probably damaging	Het
Trim60	A	T	8: 65,453,964 (GRCm39)	V95E	possibly damaging	Het
Ttc39d	G	A	17: 80,524,741 (GRCm39)	A467T	probably damaging	Het
Ttn	T	C	2: 76,550,274 (GRCm39)	T31636A	probably benign	Het
U2surp	A	G	9: 95,370,814 (GRCm39)	V420A	probably damaging	Het
Vps26b	T	C	9: 26,940,826 (GRCm39)	D31G	probably benign	Het
Vps35	T	C	8: 86,010,707 (GRCm39)	E212G	possibly damaging	Het
Zfp1010	T	C	2: 176,957,310 (GRCm39)	I63V	possibly damaging	Het

Other mutations in Nalcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Nalcn	APN	14	123,586,201 (GRCm39)	missense	probably benign	0.00
IGL00964:Nalcn	APN	14	123,532,796 (GRCm39)	splice site	probably benign
IGL01310:Nalcn	APN	14	123,554,661 (GRCm39)	missense	probably benign	0.00
IGL01578:Nalcn	APN	14	123,809,503 (GRCm39)	missense	probably benign	0.00
IGL01925:Nalcn	APN	14	123,529,260 (GRCm39)	missense	possibly damaging	0.88
IGL02072:Nalcn	APN	14	123,560,770 (GRCm39)	missense	probably benign	0.05
IGL02096:Nalcn	APN	14	123,831,915 (GRCm39)	missense	probably benign	0.11
IGL02212:Nalcn	APN	14	123,752,742 (GRCm39)	missense	probably damaging	0.99
IGL02306:Nalcn	APN	14	123,560,750 (GRCm39)	missense	probably benign	0.07
IGL02471:Nalcn	APN	14	123,560,726 (GRCm39)	missense	probably benign	0.02
IGL02478:Nalcn	APN	14	123,558,717 (GRCm39)	missense	probably benign	0.26
IGL02551:Nalcn	APN	14	123,560,750 (GRCm39)	missense	probably benign	0.07
IGL02630:Nalcn	APN	14	123,555,291 (GRCm39)	missense	probably benign	0.16
IGL02632:Nalcn	APN	14	123,555,265 (GRCm39)	missense	probably benign	0.11
IGL02661:Nalcn	APN	14	123,830,321 (GRCm39)	splice site	probably benign
IGL02830:Nalcn	APN	14	123,530,881 (GRCm39)	missense	probably damaging	0.98
IGL02939:Nalcn	APN	14	123,536,284 (GRCm39)	missense	probably null	1.00
IGL03035:Nalcn	APN	14	123,515,630 (GRCm39)	nonsense	probably null
IGL03226:Nalcn	APN	14	123,518,527 (GRCm39)	missense	probably benign	0.00
IGL03242:Nalcn	APN	14	123,558,899 (GRCm39)	missense	possibly damaging	0.91
Narnia	UTSW	14	123,528,459 (GRCm39)	missense	probably benign	0.11
R0019:Nalcn	UTSW	14	123,744,901 (GRCm39)	missense	probably benign	0.18
R0144:Nalcn	UTSW	14	123,647,251 (GRCm39)	splice site	probably benign
R0144:Nalcn	UTSW	14	123,608,948 (GRCm39)	missense	probably damaging	0.96
R0359:Nalcn	UTSW	14	123,536,580 (GRCm39)	missense	probably damaging	1.00
R0383:Nalcn	UTSW	14	123,744,971 (GRCm39)	missense	probably benign	0.01
R0400:Nalcn	UTSW	14	123,528,372 (GRCm39)	splice site	probably benign
R0467:Nalcn	UTSW	14	123,528,459 (GRCm39)	missense	probably benign	0.11
R0506:Nalcn	UTSW	14	123,834,026 (GRCm39)	missense	possibly damaging	0.82
R0583:Nalcn	UTSW	14	123,531,755 (GRCm39)	missense	possibly damaging	0.46
R0620:Nalcn	UTSW	14	123,536,553 (GRCm39)	splice site	probably benign
R0624:Nalcn	UTSW	14	123,607,444 (GRCm39)	missense	probably benign
R0883:Nalcn	UTSW	14	123,702,152 (GRCm39)	missense	probably damaging	1.00
R1381:Nalcn	UTSW	14	123,551,517 (GRCm39)	missense	probably damaging	1.00
R1467:Nalcn	UTSW	14	123,702,068 (GRCm39)	splice site	probably benign
R1689:Nalcn	UTSW	14	123,522,666 (GRCm39)	missense	probably damaging	1.00
R1726:Nalcn	UTSW	14	123,545,816 (GRCm39)	missense	probably damaging	1.00
R1774:Nalcn	UTSW	14	123,515,678 (GRCm39)	missense	probably benign
R1854:Nalcn	UTSW	14	123,697,824 (GRCm39)	missense	probably damaging	1.00
R1869:Nalcn	UTSW	14	123,831,965 (GRCm39)	missense	possibly damaging	0.96
R1871:Nalcn	UTSW	14	123,831,965 (GRCm39)	missense	possibly damaging	0.96
R1873:Nalcn	UTSW	14	123,521,013 (GRCm39)	missense	probably benign	0.00
R1899:Nalcn	UTSW	14	123,553,538 (GRCm39)	missense	possibly damaging	0.50
R1915:Nalcn	UTSW	14	123,540,181 (GRCm39)	missense	probably benign	0.08
R2016:Nalcn	UTSW	14	123,831,993 (GRCm39)	splice site	probably null
R2034:Nalcn	UTSW	14	123,521,015 (GRCm39)	missense	probably benign	0.01
R2087:Nalcn	UTSW	14	123,518,557 (GRCm39)	missense	probably benign
R2149:Nalcn	UTSW	14	123,607,429 (GRCm39)	missense	probably benign	0.01
R2157:Nalcn	UTSW	14	123,647,164 (GRCm39)	missense	probably benign	0.32
R2166:Nalcn	UTSW	14	123,607,363 (GRCm39)	missense	probably benign	0.00
R2932:Nalcn	UTSW	14	123,830,430 (GRCm39)	missense	probably benign	0.06
R3408:Nalcn	UTSW	14	123,834,029 (GRCm39)	missense	probably null	0.98
R3778:Nalcn	UTSW	14	123,702,128 (GRCm39)	missense	probably damaging	1.00
R3807:Nalcn	UTSW	14	123,515,599 (GRCm39)	missense	probably damaging	1.00
R3835:Nalcn	UTSW	14	123,530,834 (GRCm39)	splice site	probably benign
R3937:Nalcn	UTSW	14	123,607,357 (GRCm39)	missense	probably benign	0.00
R4001:Nalcn	UTSW	14	123,834,006 (GRCm39)	missense	probably damaging	1.00
R4015:Nalcn	UTSW	14	123,723,799 (GRCm39)	missense	probably damaging	1.00
R4033:Nalcn	UTSW	14	123,837,401 (GRCm39)	splice site	probably benign
R4231:Nalcn	UTSW	14	123,837,325 (GRCm39)	missense	probably benign	0.01
R4464:Nalcn	UTSW	14	123,560,762 (GRCm39)	missense	probably benign
R4512:Nalcn	UTSW	14	123,532,860 (GRCm39)	missense	probably damaging	1.00
R4542:Nalcn	UTSW	14	123,558,889 (GRCm39)	synonymous	silent
R4557:Nalcn	UTSW	14	123,558,647 (GRCm39)	intron	probably benign
R4869:Nalcn	UTSW	14	123,837,296 (GRCm39)	missense	probably benign	0.44
R5083:Nalcn	UTSW	14	123,560,706 (GRCm39)	splice site	probably null
R5109:Nalcn	UTSW	14	123,515,650 (GRCm39)	missense	possibly damaging	0.86
R5131:Nalcn	UTSW	14	123,753,182 (GRCm39)	missense	probably damaging	0.98
R5158:Nalcn	UTSW	14	123,753,149 (GRCm39)	missense	probably damaging	1.00
R5259:Nalcn	UTSW	14	123,753,063 (GRCm39)	missense	possibly damaging	0.94
R5422:Nalcn	UTSW	14	123,752,777 (GRCm39)	missense	probably damaging	1.00
R5514:Nalcn	UTSW	14	123,521,123 (GRCm39)	missense	probably benign	0.14
R5523:Nalcn	UTSW	14	123,647,155 (GRCm39)	missense	probably damaging	1.00
R5551:Nalcn	UTSW	14	123,515,698 (GRCm39)	missense	possibly damaging	0.57
R5667:Nalcn	UTSW	14	123,532,818 (GRCm39)	missense	probably damaging	1.00
R5671:Nalcn	UTSW	14	123,532,818 (GRCm39)	missense	probably damaging	1.00
R5750:Nalcn	UTSW	14	123,809,450 (GRCm39)	missense	probably benign
R5765:Nalcn	UTSW	14	123,702,138 (GRCm39)	missense	possibly damaging	0.46
R6324:Nalcn	UTSW	14	123,647,161 (GRCm39)	missense	possibly damaging	0.83
R6523:Nalcn	UTSW	14	123,555,255 (GRCm39)	missense	probably benign	0.00
R6558:Nalcn	UTSW	14	123,723,919 (GRCm39)	missense	probably benign
R6631:Nalcn	UTSW	14	123,697,663 (GRCm39)	missense	probably benign	0.17
R6667:Nalcn	UTSW	14	123,558,735 (GRCm39)	missense	probably damaging	1.00
R6670:Nalcn	UTSW	14	123,702,084 (GRCm39)	missense	possibly damaging	0.96
R6724:Nalcn	UTSW	14	123,535,479 (GRCm39)	missense	probably damaging	0.99
R6731:Nalcn	UTSW	14	123,837,346 (GRCm39)	missense	probably benign	0.22
R6957:Nalcn	UTSW	14	123,744,966 (GRCm39)	missense	probably damaging	0.96
R6970:Nalcn	UTSW	14	123,551,506 (GRCm39)	missense	possibly damaging	0.46
R7010:Nalcn	UTSW	14	123,530,877 (GRCm39)	missense	probably damaging	1.00
R7018:Nalcn	UTSW	14	123,647,233 (GRCm39)	missense	probably damaging	1.00
R7040:Nalcn	UTSW	14	123,525,267 (GRCm39)	missense	probably benign
R7089:Nalcn	UTSW	14	123,515,761 (GRCm39)	missense	probably benign	0.01
R7128:Nalcn	UTSW	14	123,831,914 (GRCm39)	missense	probably damaging	0.99
R7149:Nalcn	UTSW	14	123,837,277 (GRCm39)	missense	probably benign	0.02
R7361:Nalcn	UTSW	14	123,529,251 (GRCm39)	missense	probably benign	0.00
R7378:Nalcn	UTSW	14	123,540,302 (GRCm39)	missense	probably damaging	1.00
R7408:Nalcn	UTSW	14	123,529,272 (GRCm39)	missense	probably benign	0.00
R7470:Nalcn	UTSW	14	123,809,456 (GRCm39)	missense	probably benign	0.09
R7483:Nalcn	UTSW	14	123,551,499 (GRCm39)	missense	probably damaging	1.00
R7521:Nalcn	UTSW	14	123,530,870 (GRCm39)	missense	probably damaging	1.00
R7558:Nalcn	UTSW	14	123,723,797 (GRCm39)	critical splice donor site	probably null
R7585:Nalcn	UTSW	14	123,753,050 (GRCm39)	missense	probably damaging	1.00
R7591:Nalcn	UTSW	14	123,561,297 (GRCm39)	missense	probably benign	0.01
R7761:Nalcn	UTSW	14	123,531,791 (GRCm39)	missense	probably damaging	1.00
R7811:Nalcn	UTSW	14	123,536,357 (GRCm39)	missense	probably damaging	1.00
R7983:Nalcn	UTSW	14	123,830,409 (GRCm39)	missense	probably benign	0.17
R8089:Nalcn	UTSW	14	123,537,372 (GRCm39)	missense	probably damaging	1.00
R8110:Nalcn	UTSW	14	123,702,113 (GRCm39)	missense	probably benign	0.00
R8190:Nalcn	UTSW	14	123,837,351 (GRCm39)	missense	possibly damaging	0.69
R8273:Nalcn	UTSW	14	123,554,436 (GRCm39)	missense	probably damaging	1.00
R8407:Nalcn	UTSW	14	123,554,683 (GRCm39)	missense	probably damaging	1.00
R8497:Nalcn	UTSW	14	123,752,771 (GRCm39)	missense	probably damaging	1.00
R8544:Nalcn	UTSW	14	123,608,935 (GRCm39)	missense	probably benign	0.40
R8549:Nalcn	UTSW	14	123,607,448 (GRCm39)	missense	probably benign	0.01
R8731:Nalcn	UTSW	14	123,837,266 (GRCm39)	missense	probably benign	0.01
R8862:Nalcn	UTSW	14	123,647,199 (GRCm39)	missense	possibly damaging	0.96
R8919:Nalcn	UTSW	14	123,561,284 (GRCm39)	missense	probably benign	0.00
R9072:Nalcn	UTSW	14	123,532,863 (GRCm39)	missense	possibly damaging	0.66
R9073:Nalcn	UTSW	14	123,532,863 (GRCm39)	missense	possibly damaging	0.66
R9182:Nalcn	UTSW	14	123,834,016 (GRCm39)	missense	probably damaging	1.00
R9193:Nalcn	UTSW	14	123,545,792 (GRCm39)	nonsense	probably null
R9241:Nalcn	UTSW	14	123,809,429 (GRCm39)	missense	probably benign	0.00
R9267:Nalcn	UTSW	14	123,518,567 (GRCm39)	missense	probably benign	0.08
R9274:Nalcn	UTSW	14	123,753,068 (GRCm39)	missense	probably damaging	1.00
R9277:Nalcn	UTSW	14	123,518,523 (GRCm39)	missense	probably damaging	0.98
R9376:Nalcn	UTSW	14	123,515,713 (GRCm39)	missense	possibly damaging	0.74
X0060:Nalcn	UTSW	14	123,522,653 (GRCm39)	missense	probably damaging	1.00
Z1177:Nalcn	UTSW	14	123,831,980 (GRCm39)	missense	probably damaging	1.00
Z1177:Nalcn	UTSW	14	123,531,857 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGGGTTGTTATTCCTGACAGTG -3'
(R):5'- TGAAATGACTGTTCTCCCACC -3'

Sequencing Primer
(F):5'- CTGACAGTGGGTAGAATTATAAAACC -3'
(R):5'- AAATGACTGTTCTCCCACCTCCTG -3'

Posted On

2019-11-26