Mutagenetix > Incidental Mutation

Incidental Mutation 'R8544:Nalcn'

659555

Institutional Source

Beutler Lab

Gene Symbol

Nalcn

Ensembl Gene

ENSMUSG00000000197

Gene Name

sodium leak channel, non-selective

Synonyms

Vgcnl1, A530023G15Rik

MMRRC Submission

068509-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8544 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123514046-123864556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123608935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 644 (V644A)

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: V644A

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000000201
Gene: ENSMUSG00000000197
AA Change: V644A

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: 99.6%
20x: 98.6%

Validation Efficiency

97% (74/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	A	15: 37,425,979 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,832,461 (GRCm39)	L1171H	probably damaging	Het
Ace	A	T	11: 105,862,116 (GRCm39)		probably null	Het
Adsl	G	T	15: 80,832,734 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,585,890 (GRCm39)	M215T	probably benign	Het
Cabp2	A	T	19: 4,134,892 (GRCm39)	R77S	probably damaging	Het
Cast	A	T	13: 74,882,177 (GRCm39)	H40Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,358 (GRCm39)	Y946N	unknown	Het
Ccdc9b	C	T	2: 118,587,702 (GRCm39)	R544K	unknown	Het
Chst14	A	G	2: 118,758,010 (GRCm39)	Y268C	probably damaging	Het
Dennd1a	T	C	2: 37,872,920 (GRCm39)		probably null	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Entpd8	T	C	2: 24,973,856 (GRCm39)	V271A	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fam234b	A	G	6: 135,210,287 (GRCm39)	Y561C	probably damaging	Het
Flg	A	G	3: 93,195,448 (GRCm39)		probably benign	Het
Galnt5	T	A	2: 57,907,160 (GRCm39)	M541K	probably damaging	Het
Gjd3	C	A	11: 98,873,488 (GRCm39)	E119*	probably null	Het
Gm266	T	C	12: 111,451,799 (GRCm39)	T136A	possibly damaging	Het
Gng11	G	A	6: 4,008,045 (GRCm39)	C36Y	possibly damaging	Het
Gse1	G	A	8: 121,280,391 (GRCm39)	V36I	probably damaging	Het
Hycc2	T	C	1: 58,568,981 (GRCm39)	T477A	probably benign	Het
Invs	A	T	4: 48,397,598 (GRCm39)	H335L	probably damaging	Het
Kcnc2	A	T	10: 112,292,101 (GRCm39)	I28F	probably damaging	Het
Klhl40	C	T	9: 121,607,892 (GRCm39)	H351Y	probably damaging	Het
Kremen2	A	G	17: 23,961,201 (GRCm39)	L382P	probably benign	Het
Lenep	A	T	3: 89,309,784 (GRCm39)	C55S	possibly damaging	Het
Lrp12	A	T	15: 39,741,970 (GRCm39)	Y248*	probably null	Het
Man2c1	A	G	9: 57,038,325 (GRCm39)		probably null	Het
Map2k2	T	C	10: 80,955,376 (GRCm39)	M32T	possibly damaging	Het
Mnt	A	G	11: 74,722,218 (GRCm39)	R22G	probably damaging	Het
Mroh1	G	T	15: 76,327,558 (GRCm39)	E1127*	probably null	Het
Mtmr4	A	G	11: 87,502,735 (GRCm39)	R930G	possibly damaging	Het
Ngf	G	T	3: 102,427,991 (GRCm39)	V247F	probably damaging	Het
Ninj2	A	G	6: 120,175,018 (GRCm39)	Y63C	probably damaging	Het
Or4c121	T	C	2: 89,024,312 (GRCm39)	E22G	possibly damaging	Het
Or51g2	A	T	7: 102,622,938 (GRCm39)	I87N	probably damaging	Het
Phf12	A	C	11: 77,918,235 (GRCm39)	I816L	probably damaging	Het
Pkhd1	C	A	1: 20,593,199 (GRCm39)	G1638V	probably damaging	Het
Plce1	T	A	19: 38,512,903 (GRCm39)	S67R	probably benign	Het
Plekhf1	A	G	7: 37,920,768 (GRCm39)	F267L	probably damaging	Het
Poc1b	A	T	10: 98,960,770 (GRCm39)	K60*	probably null	Het
Ppic	G	A	18: 53,544,612 (GRCm39)	T66M	probably damaging	Het
Prep	G	T	10: 45,029,223 (GRCm39)	G541V	probably damaging	Het
Rasal3	C	T	17: 32,611,093 (GRCm39)	V947I	probably benign	Het
Rbl1	T	C	2: 157,035,124 (GRCm39)	R319G	probably damaging	Het
Rbm34	A	G	8: 127,696,821 (GRCm39)	S94P	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Sacm1l	T	C	9: 123,406,123 (GRCm39)		probably null	Het
Scaf8	T	C	17: 3,213,295 (GRCm39)		probably benign	Het
Scrn1	T	A	6: 54,499,841 (GRCm39)	T215S	probably benign	Het
Sfrp4	A	G	13: 19,816,336 (GRCm39)		probably null	Het
Slc37a3	T	C	6: 39,321,297 (GRCm39)	I406V	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sptbn1	C	A	11: 30,169,750 (GRCm39)		probably benign	Het
St8sia5	T	C	18: 77,342,114 (GRCm39)	Y275H	probably damaging	Het
Stab1	A	T	14: 30,885,008 (GRCm39)	C137*	probably null	Het
Svep1	A	G	4: 58,206,025 (GRCm39)	S118P	probably benign	Het
Tbx6	A	G	7: 126,380,656 (GRCm39)		probably null	Het
Tril	C	T	6: 53,796,295 (GRCm39)	S309N	possibly damaging	Het
Trmt13	A	G	3: 116,386,094 (GRCm39)		probably null	Het
Trpm1	T	A	7: 63,874,356 (GRCm39)		probably null	Het
Tyr	T	C	7: 87,142,000 (GRCm39)	T110A	probably benign	Het
Upf1	A	C	8: 70,789,702 (GRCm39)	F711C	probably damaging	Het
Usp5	A	T	6: 124,800,480 (GRCm39)	V267D	probably damaging	Het
Virma	C	A	4: 11,516,949 (GRCm39)	D714E	probably benign	Het
Vmn2r115	A	C	17: 23,564,773 (GRCm39)	Q220P	possibly damaging	Het
Vmn2r40	T	C	7: 8,911,191 (GRCm39)	I701V		Het
Vwde	T	A	6: 13,187,652 (GRCm39)	M612L	probably benign	Het
Wwox	A	G	8: 115,215,646 (GRCm39)	T140A	probably benign	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,194,139 (GRCm39)		probably benign	Het
Zbtb9	T	A	17: 27,193,448 (GRCm39)	C284*	probably null	Het
Zdhhc12	C	A	2: 29,983,486 (GRCm39)	A39S	probably benign	Het
Zfp532	T	A	18: 65,758,227 (GRCm39)	I720K	possibly damaging	Het
Zfp595	G	A	13: 67,465,244 (GRCm39)	R340C	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
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
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'- TGGAACTCAAAGGCTTTGTACC -3'
(R):5'- CTTCCATCTAGCGGCGATATG -3'

Sequencing Primer
(F):5'- TTTGTACCACAAAGGCAGGG -3'
(R):5'- CTAGCGGCGATATGTGTAATTAC -3'

Posted On

2021-01-18