Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Nalcn'

298085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

A530023G15Rik, Vgcnl1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

123276634-123627144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123323338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 776 (I776F)

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: I776F

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: I776F

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,969,048 (GRCm38)		noncoding transcript	Het
Abca8a	T	C	11: 110,084,242 (GRCm38)	I109V	probably benign	Het
Acsm2	C	T	7: 119,573,284 (GRCm38)	P117S	probably damaging	Het
Adamts18	C	A	8: 113,699,072 (GRCm38)	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,870,038 (GRCm38)	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,543,233 (GRCm38)	T694A	probably damaging	Het
Adgra2	G	A	8: 27,119,222 (GRCm38)	V609I	probably benign	Het
Agbl3	A	G	6: 34,823,071 (GRCm38)	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,372,751 (GRCm38)	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,418,091 (GRCm38)	I245N	probably damaging	Het
Aqp9	A	G	9: 71,132,640 (GRCm38)	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,930,346 (GRCm38)	E465G	probably damaging	Het
Btrc	G	T	19: 45,423,134 (GRCm38)	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,133,100 (GRCm38)	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,152,912 (GRCm38)	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686 (GRCm38)	S25P	probably benign	Het
Dnajc6	T	A	4: 101,639,353 (GRCm38)	W838R	probably damaging	Het
Fam78a	T	A	2: 32,069,556 (GRCm38)	T181S	probably damaging	Het
Fat1	A	G	8: 45,051,398 (GRCm38)	T4600A	probably damaging	Het
Fbxo31	A	T	8: 121,566,344 (GRCm38)	Y101N	probably damaging	Het
Glmp	A	G	3: 88,325,082 (GRCm38)	M1V	probably null	Het
Gsdmc	T	A	15: 63,801,933 (GRCm38)	T168S	probably benign	Het
Has1	C	T	17: 17,848,298 (GRCm38)	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,454,811 (GRCm38)	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,484,902 (GRCm38)	M292I	probably benign	Het
Kmo	A	T	1: 175,637,919 (GRCm38)	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,813,548 (GRCm38)	T608I	possibly damaging	Het
Mical2	A	T	7: 112,323,990 (GRCm38)	N635I	probably benign	Het
Nags	T	C	11: 102,147,941 (GRCm38)	S403P	probably damaging	Het
Ncan	A	T	8: 70,102,462 (GRCm38)	N1018K	probably damaging	Het
Notch3	T	A	17: 32,154,731 (GRCm38)		probably benign	Het
Nup93	C	T	8: 94,227,833 (GRCm38)	Q53*	probably null	Het
Pdk2	T	A	11: 95,028,586 (GRCm38)	M288L	probably benign	Het
Pkd1	A	G	17: 24,573,815 (GRCm38)	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,403,870 (GRCm38)	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,299,094 (GRCm38)	D511V	possibly damaging	Het
Plin2	C	A	4: 86,658,692 (GRCm38)	M265I	probably benign	Het
Ppp6c	A	T	2: 39,206,657 (GRCm38)	F78I	probably damaging	Het
Prop1	A	T	11: 50,950,946 (GRCm38)	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,831,484 (GRCm38)	E222D	probably damaging	Het
Rtkn	A	T	6: 83,151,924 (GRCm38)	I454F	probably damaging	Het
Serinc2	T	C	4: 130,260,774 (GRCm38)	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,904,338 (GRCm38)	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,424,573 (GRCm38)	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,404,275 (GRCm38)		probably benign	Het
Spg7	G	A	8: 123,076,978 (GRCm38)	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916 (GRCm38)	D40G	probably benign	Het
Tmcc2	A	G	1: 132,357,579 (GRCm38)	L683P	probably damaging	Het
Triobp	T	C	15: 78,973,489 (GRCm38)	S1097P	probably benign	Het
Tspan9	T	C	6: 127,965,763 (GRCm38)	D167G	probably null	Het
Ttll6	T	C	11: 96,154,700 (GRCm38)	I581T	probably benign	Het
Usp29	A	G	7: 6,963,353 (GRCm38)		probably null	Het
Vgll4	A	G	6: 114,862,293 (GRCm38)	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,026,141 (GRCm38)	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,788,506 (GRCm38)	T185A	probably benign	Het
Vwce	A	G	19: 10,645,036 (GRCm38)	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462 (GRCm38)	E2194G	possibly damaging	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
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
R8731:Nalcn	UTSW	14	123,599,854 (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

Posted On

2015-04-16