Mutagenetix > Incidental Mutation

Incidental Mutation 'R3778:Nalcn'

271930

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

Vgcnl1, A530023G15Rik

MMRRC Submission

040750-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123514046-123864556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123702128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 461 (T461M)

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: T461M

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

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: T461M

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,618,846 (GRCm39)	L769H	probably damaging	Het
Aldh1a7	A	T	19: 20,696,675 (GRCm39)	M106K	possibly damaging	Het
Ankfn1	G	T	11: 89,332,220 (GRCm39)	P442Q	probably damaging	Het
Aox1	A	C	1: 58,092,862 (GRCm39)	D158A	possibly damaging	Het
Apc	A	G	18: 34,446,134 (GRCm39)	N976S	probably damaging	Het
Cfap54	C	T	10: 92,740,206 (GRCm39)		probably benign	Het
Cldn1	C	T	16: 26,190,216 (GRCm39)	C54Y	probably damaging	Het
Col22a1	A	T	15: 71,845,541 (GRCm39)	I407N	probably damaging	Het
Cyp2e1	T	C	7: 140,343,822 (GRCm39)	V20A	possibly damaging	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fbn1	C	T	2: 125,159,006 (GRCm39)	C2253Y	probably damaging	Het
Fhip1b	T	A	7: 105,037,435 (GRCm39)	T383S	probably damaging	Het
Flnb	G	A	14: 7,915,353 (GRCm38)	V1495I	probably benign	Het
Fscn3	A	C	6: 28,430,031 (GRCm39)	K67T	possibly damaging	Het
Gls	A	G	1: 52,208,071 (GRCm39)	V571A	probably benign	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm4871	A	G	5: 144,966,893 (GRCm39)	S197P	probably damaging	Het
Gm7104	A	T	12: 88,252,441 (GRCm39)		noncoding transcript	Het
Gp9	A	T	6: 87,755,987 (GRCm39)	M1L	probably benign	Het
Greb1l	T	A	18: 10,469,444 (GRCm39)	L153H	possibly damaging	Het
H1f8	T	C	6: 115,926,708 (GRCm39)		probably null	Het
Hadha	A	T	5: 30,325,127 (GRCm39)	C688S	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmcn1	A	T	1: 150,678,575 (GRCm39)	D515E	possibly damaging	Het
Hsfy2	A	T	1: 56,675,847 (GRCm39)	V230E	possibly damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Itpr3	A	G	17: 27,314,446 (GRCm39)	D632G	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lrig2	A	G	3: 104,365,277 (GRCm39)	I625T	probably benign	Het
Lrp2	A	T	2: 69,339,548 (GRCm39)	M1121K	probably benign	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mei1	T	C	15: 81,966,209 (GRCm39)	L277P	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mycbp2	T	A	14: 103,434,721 (GRCm39)	I2241F	probably damaging	Het
Ncoa6	A	G	2: 155,263,115 (GRCm39)	S440P	probably damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Notch2	T	C	3: 98,053,939 (GRCm39)	S2201P	probably damaging	Het
Or10c1	T	C	17: 37,522,649 (GRCm39)	T32A	probably benign	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Pard6g	A	T	18: 80,123,038 (GRCm39)		probably null	Het
Pask	T	A	1: 93,255,189 (GRCm39)	I294F	probably damaging	Het
Pax9	A	G	12: 56,743,533 (GRCm39)	Y60C	probably damaging	Het
Pcdh15	G	A	10: 73,782,983 (GRCm39)		probably null	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Ppm1e	T	C	11: 87,139,754 (GRCm39)		probably null	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Sec24c	A	G	14: 20,733,375 (GRCm39)	Q234R	possibly damaging	Het
Shcbp1	A	T	8: 4,786,295 (GRCm39)	N602K	probably benign	Het
Sirt5	A	G	13: 43,536,583 (GRCm39)		probably null	Het
Slc66a1	T	C	4: 139,026,293 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tmem235	A	T	11: 117,753,126 (GRCm39)	H83L	probably benign	Het
Trappc10	A	G	10: 78,036,636 (GRCm39)	V861A	possibly damaging	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,821,941 (GRCm39)	D174A	possibly damaging	Het
Wwox	T	C	8: 115,601,347 (GRCm39)	C355R	probably benign	Het
Zfp229	A	T	17: 21,964,183 (GRCm39)	T138S	probably benign	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
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'- TGAAACAAACTCATATGTCCTTCCC -3'
(R):5'- AGTGGCTGGAACTCACTATTG -3'

Sequencing Primer
(F):5'- CCCTTTAAGTTTGTGCCAAAATC -3'
(R):5'- GGCTGGAACTCACTATTGATAAATTC -3'

Posted On

2015-03-25