Mutagenetix > Incidental Mutation

Incidental Mutation 'R6957:Nalcn'

541541

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

Vgcnl1, A530023G15Rik

MMRRC Submission

045068-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6957 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123514046-123864556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123744966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 354 (D354G)

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: D354G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: D354G

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: 99.4%
20x: 98.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	G	1: 138,779,857 (GRCm39)	S132P	probably damaging	Het
Abcb5	A	G	12: 118,871,270 (GRCm39)	F710L	probably damaging	Het
Acsm4	T	G	7: 119,310,622 (GRCm39)	V503G	probably damaging	Het
Adam26a	T	A	8: 44,021,940 (GRCm39)	M517L	probably benign	Het
Adcy10	C	A	1: 165,391,854 (GRCm39)	L1345I	probably damaging	Het
Adgrv1	T	C	13: 81,715,609 (GRCm39)	I860V	probably benign	Het
Alcam	T	C	16: 52,097,257 (GRCm39)	D333G	probably damaging	Het
Amt	C	A	9: 108,177,032 (GRCm39)	F213L	possibly damaging	Het
Ascc3	A	G	10: 50,604,278 (GRCm39)	T1333A	probably damaging	Het
Asxl3	C	A	18: 22,655,148 (GRCm39)	L1053I	probably damaging	Het
Atxn10	T	C	15: 85,220,699 (GRCm39)	S12P	probably damaging	Het
AU021092	T	C	16: 5,030,017 (GRCm39)	I333V	probably benign	Het
Birc6	A	G	17: 74,886,486 (GRCm39)	I577V	probably benign	Het
Cadm2	A	T	16: 66,609,726 (GRCm39)	F132I	probably benign	Het
Casp3	T	A	8: 47,087,308 (GRCm39)	V85D	probably damaging	Het
Ccdc168	C	T	1: 44,096,367 (GRCm39)	C1577Y	probably benign	Het
Ccdc85a	A	T	11: 28,342,944 (GRCm39)		probably benign	Het
Cd22	T	C	7: 30,566,999 (GRCm39)	R760G	possibly damaging	Het
Cela3a	A	T	4: 137,135,441 (GRCm39)	W41R	probably damaging	Het
Cep164	A	G	9: 45,683,578 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Ddx20	C	A	3: 105,591,626 (GRCm39)	K181N	probably benign	Het
Dnah14	G	C	1: 181,612,740 (GRCm39)	A3846P	possibly damaging	Het
Ern1	A	C	11: 106,294,365 (GRCm39)	I813S	probably damaging	Het
Fam181a	G	A	12: 103,282,773 (GRCm39)	G226D	probably damaging	Het
Fam186a	T	A	15: 99,844,357 (GRCm39)	D629V	unknown	Het
Gipr	T	A	7: 18,898,529 (GRCm39)	T26S	probably benign	Het
Gm3159	A	G	14: 4,398,530 (GRCm38)	R74G	possibly damaging	Het
Greb1l	G	A	18: 10,558,786 (GRCm39)	V1814I	probably benign	Het
Hacd1	A	T	2: 14,049,664 (GRCm39)	V98E	probably damaging	Het
Iars1	T	G	13: 49,875,637 (GRCm39)	F775V	probably damaging	Het
Il12rb2	G	A	6: 67,269,636 (GRCm39)	L726F	possibly damaging	Het
Itih4	T	C	14: 30,614,560 (GRCm39)	V474A	probably damaging	Het
Kmt2a	A	C	9: 44,731,319 (GRCm39)		probably benign	Het
Ktn1	T	A	14: 47,904,810 (GRCm39)	L196*	probably null	Het
Lipo4	A	G	19: 33,476,767 (GRCm39)	V327A	probably benign	Het
Lratd2	T	C	15: 60,694,934 (GRCm39)	T271A	probably benign	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp4	C	A	2: 91,317,387 (GRCm39)	T837K	probably damaging	Het
Mad1l1	G	T	5: 140,051,572 (GRCm39)	F664L	probably damaging	Het
Mecr	A	G	4: 131,589,172 (GRCm39)	T247A	probably benign	Het
Msi1	G	A	5: 115,583,483 (GRCm39)	A228T	probably benign	Het
Mup5	T	A	4: 61,751,273 (GRCm39)	N125I	probably damaging	Het
Mybl2	C	T	2: 162,914,728 (GRCm39)	S282F	possibly damaging	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nckap1l	T	C	15: 103,399,938 (GRCm39)	V1040A	possibly damaging	Het
Nlrp12	T	A	7: 3,271,160 (GRCm39)	D1051V	probably damaging	Het
Nudt7	A	G	8: 114,860,385 (GRCm39)	K16R	probably benign	Het
Or4b1	G	T	2: 89,979,494 (GRCm39)	Y285*	probably null	Het
Or8g29-ps1	A	G	9: 39,200,577 (GRCm39)	V203A	unknown	Het
Paqr3	A	T	5: 97,256,110 (GRCm39)	I88K	possibly damaging	Het
Parp9	A	G	16: 35,768,716 (GRCm39)	M299V	probably benign	Het
Pde4dip	A	T	3: 97,731,649 (GRCm39)		probably null	Het
Pex13	T	G	11: 23,605,628 (GRCm39)	M201L	probably benign	Het
Pfas	C	A	11: 68,884,709 (GRCm39)	V498L	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Plec	T	A	15: 76,070,414 (GRCm39)	D932V	probably damaging	Het
Qng1	C	A	13: 58,529,775 (GRCm39)	C279F	probably damaging	Het
Qsox2	C	T	2: 26,107,654 (GRCm39)	A445T	probably benign	Het
Rapgef1	C	A	2: 29,623,710 (GRCm39)	Q820K	possibly damaging	Het
Samd13	A	G	3: 146,368,424 (GRCm39)		probably null	Het
Samm50	G	T	15: 84,082,850 (GRCm39)	D104Y	probably damaging	Het
Sbk3	A	T	7: 4,970,522 (GRCm39)	F282L	probably benign	Het
Sfmbt1	C	T	14: 30,509,546 (GRCm39)	H342Y	probably benign	Het
Sgo2b	CCATCATCATCATCATCATCAT	CCATCATCATCATCATCAT	8: 64,384,489 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,043,344 (GRCm39)	L596*	probably null	Het
Spata31h1	A	T	10: 82,129,620 (GRCm39)	I1130K	probably benign	Het
St8sia3	T	C	18: 64,404,853 (GRCm39)	S377P	probably benign	Het
Stmnd1	T	G	13: 46,427,375 (GRCm39)	S28A	probably benign	Het
Syne3	A	T	12: 104,920,561 (GRCm39)	L458Q	probably damaging	Het
Synm	C	T	7: 67,385,848 (GRCm39)	V163I	probably benign	Het
Tbc1d23	A	G	16: 57,028,686 (GRCm39)	C161R	probably damaging	Het
Tnfrsf4	G	A	4: 156,100,625 (GRCm39)	V215I	probably benign	Het
Vars2	T	G	17: 35,977,967 (GRCm39)	K67Q	probably benign	Het
Vmn2r13	A	T	5: 109,304,753 (GRCm39)	Y559*	probably null	Het
Wdpcp	T	C	11: 21,671,154 (GRCm39)	I465T	possibly damaging	Het
Zwilch	A	C	9: 64,069,844 (GRCm39)		probably null	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
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	123,531,792 (GRCm39)	missense	probably damaging	1.00
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'- AATCTGGGCAAGTTTAGAGCTTGG -3'
(R):5'- GCAAGCTATTATCATTGCTCATGAG -3'

Sequencing Primer
(F):5'- AGAGCTTGGAGCCTATGAATTTC -3'
(R):5'- GCTATTATCATTGCTCATGAGAGTAG -3'

Posted On

2018-11-28