Mutagenetix > Incidental Mutation

Incidental Mutation 'R3933:Nalf2'

308578

Institutional Source

Beutler Lab

Gene Symbol

Nalf2

Ensembl Gene

ENSMUSG00000071719

Gene Name

NALCN channel auxiliary factor 2

Synonyms

EG620592, Tmem28, Fam155b

MMRRC Submission

040920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R3933 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

98864627-98892396 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98865470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 266 (V266M)

Ref Sequence

ENSEMBL: ENSMUSP00000094090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096363]

AlphaFold

A2BDP1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096363
AA Change: V266M

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094090
Gene: ENSMUSG00000071719
AA Change: V266M

Domain	Start	End	E-Value	Type
low complexity region	90	112	N/A	INTRINSIC
low complexity region	159	176	N/A	INTRINSIC
low complexity region	381	401	N/A	INTRINSIC
low complexity region	432	444	N/A	INTRINSIC
low complexity region	447	457	N/A	INTRINSIC

Meta Mutation Damage Score

0.0940

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

96% (43/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,304,856 (GRCm39)	F3350L	probably damaging	Het
Acp6	T	C	3: 97,073,499 (GRCm39)	V146A	probably benign	Het
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Arhgef33	A	G	17: 80,680,749 (GRCm39)	I630V	probably benign	Het
Astn2	G	A	4: 66,322,192 (GRCm39)	R136C	unknown	Het
Bcl2l14	A	G	6: 134,400,771 (GRCm39)	D64G	probably damaging	Het
C1rl	T	A	6: 124,485,781 (GRCm39)	L384*	probably null	Het
Ccdc6	TCCGCCGCCGCC	TCCGCCGCC	10: 70,025,000 (GRCm39)		probably benign	Het
Coch	T	C	12: 51,650,121 (GRCm39)	I370T	probably damaging	Het
Ercc5	T	A	1: 44,207,016 (GRCm39)	M643K	probably benign	Het
Fut8	A	C	12: 77,522,033 (GRCm39)	K557N	probably damaging	Het
Hsdl2	T	C	4: 59,597,274 (GRCm39)	Y88H	probably damaging	Het
Hspg2	T	C	4: 137,242,879 (GRCm39)	V670A	probably damaging	Het
Itga8	A	G	2: 12,194,330 (GRCm39)	I690T	probably benign	Het
Lepr	T	C	4: 101,622,498 (GRCm39)		probably benign	Het
Matn2	T	C	15: 34,345,566 (GRCm39)		probably null	Het
Mei1	A	G	15: 81,967,353 (GRCm39)	K310E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msl3	C	T	X: 167,454,813 (GRCm39)	A87T	probably damaging	Het
Ogdh	T	C	11: 6,292,601 (GRCm39)	V438A	possibly damaging	Het
Opa1	A	T	16: 29,429,698 (GRCm39)	E401D	probably damaging	Het
Or4f17-ps1	T	C	2: 111,358,300 (GRCm39)	Y232H	probably damaging	Het
Or5aq6	T	A	2: 86,923,106 (GRCm39)	I212F	probably benign	Het
Parp2	G	A	14: 51,056,844 (GRCm39)	V323M	probably benign	Het
Pip5k1a	A	G	3: 94,979,314 (GRCm39)	S161P	probably benign	Het
Pold3	T	C	7: 99,770,608 (GRCm39)	E8G	probably damaging	Het
Pomt1	G	A	2: 32,135,631 (GRCm39)	V332I	probably benign	Het
Ppp2ca	T	A	11: 52,010,089 (GRCm39)	N232K	probably damaging	Het
Prune2	A	T	19: 17,101,318 (GRCm39)	D2274V	probably damaging	Het
Pwwp2b	G	A	7: 138,835,950 (GRCm39)	V464I	possibly damaging	Het
Rgs7bp	T	C	13: 105,189,506 (GRCm39)	M98V	probably benign	Het
Rubcn	A	G	16: 32,649,629 (GRCm39)		probably null	Het
Scai	A	T	2: 38,965,064 (GRCm39)	D593E	probably benign	Het
Slc24a2	T	C	4: 87,094,422 (GRCm39)	T366A	probably benign	Het
Sp100	A	G	1: 85,608,830 (GRCm39)	I320V	probably benign	Het
Syngr2	C	A	11: 117,704,243 (GRCm39)	P206Q	probably damaging	Het
Tatdn3	A	T	1: 190,778,521 (GRCm39)		probably null	Het
Thsd7a	C	T	6: 12,555,225 (GRCm39)	G220S	probably benign	Het
Vmn2r10	C	A	5: 109,150,088 (GRCm39)	A319S	possibly damaging	Het
Vmn2r11	C	T	5: 109,201,260 (GRCm39)	A415T	probably damaging	Het
Vmn2r88	A	G	14: 51,651,435 (GRCm39)	M258V	probably benign	Het
Wiz	G	A	17: 32,576,872 (GRCm39)	R561C	probably damaging	Het
Yju2b	G	A	8: 84,986,981 (GRCm39)	A172V	probably benign	Het
Zfp422	T	C	6: 116,603,420 (GRCm39)	K193R	probably benign	Het

Other mutations in Nalf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3405:Nalf2	UTSW	X	98,889,109 (GRCm39)	missense	probably benign	0.02
R3406:Nalf2	UTSW	X	98,889,109 (GRCm39)	missense	probably benign	0.02
R3932:Nalf2	UTSW	X	98,865,470 (GRCm39)	missense	possibly damaging	0.94
R9393:Nalf2	UTSW	X	98,889,097 (GRCm39)	missense	probably damaging	1.00
R9395:Nalf2	UTSW	X	98,889,097 (GRCm39)	missense	probably damaging	1.00
R9396:Nalf2	UTSW	X	98,889,097 (GRCm39)	missense	probably damaging	1.00
RF011:Nalf2	UTSW	X	98,864,967 (GRCm39)	small insertion	probably benign
RF017:Nalf2	UTSW	X	98,864,971 (GRCm39)	small insertion	probably benign
RF018:Nalf2	UTSW	X	98,864,967 (GRCm39)	small insertion	probably benign
RF033:Nalf2	UTSW	X	98,864,979 (GRCm39)	small insertion	probably benign
RF039:Nalf2	UTSW	X	98,864,978 (GRCm39)	small insertion	probably benign
RF051:Nalf2	UTSW	X	98,864,968 (GRCm39)	small insertion	probably benign
X0033:Nalf2	UTSW	X	98,864,727 (GRCm39)	small deletion	probably benign
X0036:Nalf2	UTSW	X	98,864,727 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCGACACCTACACAGTCTG -3'
(R):5'- AGTACTACACTGGGAATGGTGG -3'

Sequencing Primer
(F):5'- ACCTACACAGTCTGGGACTTG -3'
(R):5'- CACTGGGAATGGTGGGAGCC -3'

Posted On

2015-04-17