Mutagenetix > Incidental Mutation

Incidental Mutation 'R7591:Nalcn'

587420

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

Vgcnl1, A530023G15Rik

MMRRC Submission

045638-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7591 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123514046-123864556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123561297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 734 (T734A)

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: T734A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: T734A

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

Meta Mutation Damage Score

0.1132

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (45/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccne2	T	C	4: 11,201,393 (GRCm39)	I307T	probably benign	Het
Chrm3	A	T	13: 9,927,349 (GRCm39)	C562*	probably null	Het
Cldn11	A	T	3: 31,204,436 (GRCm39)	E46D	probably benign	Het
Cyp4a14	A	G	4: 115,347,157 (GRCm39)		probably null	Het
Dbh	A	G	2: 27,060,522 (GRCm39)	T233A	probably damaging	Het
Dennd2c	T	A	3: 103,040,661 (GRCm39)	Y309N	possibly damaging	Het
Dnttip2	T	A	3: 122,070,117 (GRCm39)	L444*	probably null	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epop	A	T	11: 97,519,158 (GRCm39)	V317E	probably damaging	Het
Eppk1	T	C	15: 75,991,797 (GRCm39)	T1695A	possibly damaging	Het
Fam149a	T	A	8: 45,803,472 (GRCm39)	I421F	possibly damaging	Het
Impa2	T	C	18: 67,451,480 (GRCm39)	L258P	probably damaging	Het
Itga1	G	A	13: 115,119,315 (GRCm39)	R855W	probably damaging	Het
Kcnh5	T	C	12: 75,054,541 (GRCm39)	T468A	probably benign	Het
Kif11	A	G	19: 37,372,711 (GRCm39)	K33R	probably damaging	Het
Lamb1	C	A	12: 31,376,647 (GRCm39)	A1657E	probably damaging	Het
Macc1	T	C	12: 119,410,393 (GRCm39)	V387A	probably damaging	Het
Nphp3	T	C	9: 103,895,477 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,627,903 (GRCm39)	I461M	probably damaging	Het
Or14p1	T	C	13: 65,292,462 (GRCm39)	F130L	probably benign	Het
Or4p7	G	A	2: 88,222,220 (GRCm39)	V210M	probably benign	Het
Or4s2	A	C	2: 88,473,811 (GRCm39)	K233N	probably damaging	Het
Or5b112	A	G	19: 13,319,619 (GRCm39)	S166G	probably benign	Het
Pigo	T	C	4: 43,025,093 (GRCm39)	N2S	probably benign	Het
Plcl1	A	T	1: 55,736,608 (GRCm39)	I650L	probably benign	Het
Ppcdc	A	T	9: 57,342,262 (GRCm39)	V20D	probably damaging	Het
Pramel27	A	T	4: 143,577,481 (GRCm39)	I88L	probably benign	Het
Rhobtb2	A	G	14: 70,037,190 (GRCm39)	V78A	possibly damaging	Het
Rp1l1	T	C	14: 64,263,558 (GRCm39)	V226A	probably damaging	Het
Scrt1	C	A	15: 76,403,694 (GRCm39)	G99C	probably damaging	Het
Skint9	A	T	4: 112,248,147 (GRCm39)	I199N	probably damaging	Het
Slc5a4a	T	C	10: 75,983,501 (GRCm39)		probably benign	Het
Smad3	C	T	9: 63,561,999 (GRCm39)	W326*	probably null	Het
Spata18	A	T	5: 73,829,759 (GRCm39)	I305F		Het
Spata31h1	C	A	10: 82,128,046 (GRCm39)	V1655F	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syne3	A	G	12: 104,906,863 (GRCm39)		probably null	Het
Trim69	G	A	2: 121,998,454 (GRCm39)	R142Q	probably benign	Het
Vmn1r40	A	T	6: 89,691,755 (GRCm39)	I191F	probably benign	Het
Vmn2r16	T	A	5: 109,510,223 (GRCm39)	D535E	probably damaging	Het
Vwa5b2	A	G	16: 20,420,317 (GRCm39)	E742G	probably damaging	Het
Zfp442	A	T	2: 150,250,092 (GRCm39)	Y603*	probably null	Het
Zp1	T	C	19: 10,896,835 (GRCm39)	N68S	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
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
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'- AACCTAGGTCCTCACCATGC -3'
(R):5'- AGCTCCTCTTGGTCTTGGAC -3'

Sequencing Primer
(F):5'- TTGCCAACAAGGGTAGAGGCC -3'
(R):5'- GACTTCTGCTTTGTGTTTCTGAC -3'

Posted On

2019-10-24