Mutagenetix > Incidental Mutation

Incidental Mutation 'R0144:Nalcn'

22531

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

Vgcnl1, A530023G15Rik

MMRRC Submission

038429-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0144 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

123514046-123864556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123608948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 640 (R640G)

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: R640G

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

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: R640G

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: ENSMUST00000227541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228860

Meta Mutation Damage Score

0.1304

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	A	12: 84,652,739 (GRCm39)		probably null	Het
Acp6	T	A	3: 97,073,145 (GRCm39)		probably benign	Het
AI661453	A	T	17: 47,780,224 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,109,233 (GRCm39)	I674V	probably benign	Het
Armc2	A	T	10: 41,823,883 (GRCm39)		probably benign	Het
Atp8b1	G	C	18: 64,704,445 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,737,839 (GRCm39)	N1823K	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Brca1	A	T	11: 101,416,947 (GRCm39)	S396T	probably damaging	Het
Btnl6	G	T	17: 34,732,994 (GRCm39)	R290S	probably benign	Het
Casp8ap2	A	G	4: 32,643,797 (GRCm39)	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,656,417 (GRCm39)	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,166,215 (GRCm39)	I738T	probably damaging	Het
Ceacam15	G	T	7: 16,407,116 (GRCm39)	H134N	probably benign	Het
Cep170	T	C	1: 176,620,161 (GRCm39)	I46V	probably benign	Het
Cfap57	T	C	4: 118,441,902 (GRCm39)	D722G	probably damaging	Het
Col11a1	A	T	3: 113,907,243 (GRCm39)	D628V	unknown	Het
Csmd1	A	T	8: 16,441,838 (GRCm39)	V342E	probably benign	Het
Dennd1a	A	G	2: 38,016,652 (GRCm39)	V64A	probably damaging	Het
Dlec1	G	T	9: 118,971,934 (GRCm39)	G1345V	probably benign	Het
Dnah1	G	A	14: 30,989,831 (GRCm39)		probably benign	Het
Dock5	C	T	14: 68,023,735 (GRCm39)	G1142D	probably benign	Het
Etv2	C	A	7: 30,334,308 (GRCm39)	A142S	probably benign	Het
Fam110c	C	A	12: 31,124,500 (GRCm39)	T154K	unknown	Het
Fbxo17	C	G	7: 28,434,765 (GRCm39)	D183E	probably damaging	Het
Fbxo30	T	A	10: 11,170,964 (GRCm39)	W681R	probably damaging	Het
Fig4	A	G	10: 41,134,045 (GRCm39)	Y413H	probably damaging	Het
Gab1	A	G	8: 81,511,830 (GRCm39)		probably benign	Het
Gabarapl1	T	C	6: 129,510,411 (GRCm39)	M1T	probably null	Het
H2-M10.6	G	A	17: 37,123,133 (GRCm39)	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,889,751 (GRCm39)	D2432G	probably damaging	Het
Il13	T	C	11: 53,524,003 (GRCm39)	D60G	possibly damaging	Het
Iqgap1	A	G	7: 80,401,668 (GRCm39)	L479P	probably damaging	Het
Itpr2	T	A	6: 146,228,653 (GRCm39)	Q1314L	probably damaging	Het
Jrk	C	T	15: 74,578,005 (GRCm39)	G427S	probably benign	Het
Kcnb1	T	G	2: 166,946,467 (GRCm39)	N794H	probably damaging	Het
Klhl8	A	T	5: 104,015,804 (GRCm39)	S361R	probably benign	Het
Krt87	T	C	15: 101,336,542 (GRCm39)	Y37C	probably benign	Het
Lbp	A	T	2: 158,161,630 (GRCm39)	S231C	probably damaging	Het
Lpin2	A	G	17: 71,532,071 (GRCm39)	E142G	probably damaging	Het
Lrch4	G	A	5: 137,636,805 (GRCm39)		probably null	Het
Lypd11	A	G	7: 24,423,015 (GRCm39)	V101A	possibly damaging	Het
Manea	A	G	4: 26,340,719 (GRCm39)	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,316,849 (GRCm39)	T618A	probably benign	Het
Me3	A	G	7: 89,389,080 (GRCm39)	D128G	probably damaging	Het
Mix23	A	T	16: 35,905,484 (GRCm39)	N92I	possibly damaging	Het
Mug2	A	G	6: 122,047,970 (GRCm39)		probably benign	Het
Myo9b	A	T	8: 71,798,687 (GRCm39)	Q901L	probably damaging	Het
Ncor1	T	C	11: 62,283,421 (GRCm39)	N422S	probably damaging	Het
Nf1	T	A	11: 79,437,953 (GRCm39)	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,315,162 (GRCm39)	A358T	probably damaging	Het
Or52s1	A	T	7: 102,861,747 (GRCm39)	I216F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p62	T	C	7: 107,771,178 (GRCm39)	I258V	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pld5	T	C	1: 175,798,107 (GRCm39)	N431D	probably benign	Het
Prss28	G	A	17: 25,528,424 (GRCm39)	V16M	probably damaging	Het
Psmd2	T	A	16: 20,480,975 (GRCm39)		probably null	Het
Ptpn21	A	T	12: 98,654,868 (GRCm39)	S700T	probably benign	Het
Rasa2	A	T	9: 96,474,072 (GRCm39)	V152D	probably damaging	Het
Reln	G	T	5: 22,153,447 (GRCm39)	R2286S	probably damaging	Het
Rflnb	G	T	11: 75,915,789 (GRCm39)	P102Q	probably damaging	Het
Rin2	G	A	2: 145,718,559 (GRCm39)	V680I	probably damaging	Het
Rnf213	A	T	11: 119,370,426 (GRCm39)	K4742*	probably null	Het
Rpp40	A	T	13: 36,085,352 (GRCm39)	S143T	probably benign	Het
Rps12	A	G	10: 23,662,689 (GRCm39)	I51T	probably benign	Het
Rsf1	T	A	7: 97,285,614 (GRCm39)	W109R	probably damaging	Het
Sipa1l2	C	T	8: 126,176,615 (GRCm39)		probably null	Het
Tspan5	G	T	3: 138,604,109 (GRCm39)	V165L	probably damaging	Het
Uts2r	T	A	11: 121,052,291 (GRCm39)	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231 (GRCm39)	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,440 (GRCm39)	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,665 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,655,671 (GRCm39)	K766R	probably 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
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	123,531,792 (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'- GTGCTCACATCGAAGTCTGTCCTC -3'
(R):5'- AGTGAACAATCTCTGGGACCGCTG -3'

Sequencing Primer
(F):5'- GAGCAAAGTTCACCTTGTCTATGC -3'
(R):5'- TTCCATCTAGCGGCGATATG -3'

Posted On

2013-04-16