Mutagenetix > Incidental Mutation

Incidental Mutation 'R2192:Nf2'

238229

Institutional Source

Beutler Lab

Gene Symbol

Nf2

Ensembl Gene

ENSMUSG00000009073

Gene Name

neurofibromin 2

Synonyms

schwannomin, merlin, moesin-ezrin-radixin-like protein

MMRRC Submission

040194-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2192 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4715845-4799536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4749899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 61 (W61R)

Ref Sequence

ENSEMBL: ENSMUSP00000128494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053079] [ENSMUST00000056290] [ENSMUST00000109910] [ENSMUST00000152656] [ENSMUST00000164190]

AlphaFold

P46662

Predicted Effect

probably damaging
Transcript: ENSMUST00000053079
AA Change: W258R

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

SMART Domains

Protein: ENSMUSP00000055033
Gene: ENSMUSG00000009073
AA Change: W258R

Domain	Start	End	E-Value	Type
B41	18	222	5.26e-81	SMART
FERM_C	226	315	1.08e-30	SMART
Pfam:ERM	347	585	6.3e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056290
AA Change: W258R

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

SMART Domains

Protein: ENSMUSP00000055061
Gene: ENSMUSG00000009073
AA Change: W258R

Domain	Start	End	E-Value	Type
B41	18	222	5.26e-81	SMART
FERM_C	226	315	1.08e-30	SMART
Pfam:ERM	347	585	6.3e-63	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000093374
AA Change: W187R

SMART Domains

Protein: ENSMUSP00000091066
Gene: ENSMUSG00000009073
AA Change: W187R

Domain	Start	End	E-Value	Type
B41	2	152	2.21e-33	SMART
FERM_C	156	245	1.08e-30	SMART
Pfam:ERM	277	515	1.7e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109908

Predicted Effect

probably damaging
Transcript: ENSMUST00000109910
AA Change: W258R

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

SMART Domains

Protein: ENSMUSP00000105536
Gene: ENSMUSG00000009073
AA Change: W258R

Domain	Start	End	E-Value	Type
B41	18	222	5.26e-81	SMART
FERM_C	226	315	1.08e-30	SMART
Pfam:ERM	347	596	5.5e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124878

SMART Domains

Protein: ENSMUSP00000132184
Gene: ENSMUSG00000009073

Domain	Start	End	E-Value	Type
Pfam:FERM_M	35	83	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137926

SMART Domains

Protein: ENSMUSP00000116505
Gene: ENSMUSG00000009073

Domain	Start	End	E-Value	Type
B41	2	116	1.53e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000152656
AA Change: W61R

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

SMART Domains

Protein: ENSMUSP00000128494
Gene: ENSMUSG00000009073
AA Change: W61R

Domain	Start	End	E-Value	Type
Blast:B41	1	28	2e-9	BLAST
PDB:1E5W\|A	1	28	7e-6	PDB
FERM_C	29	118	1.08e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155600

Predicted Effect

probably benign
Transcript: ENSMUST00000164190

SMART Domains

Protein: ENSMUSP00000129388
Gene: ENSMUSG00000009073

Domain	Start	End	E-Value	Type
B41	18	181	1.24e-45	SMART
FERM_C	160	229	1.23e0	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants lack extraembryonic ectoderm, do not initiate gastrulation and die by embryonic day 7. Heterozygotes develop malignant tumors, especially osteosarcomas. Conditional Schwann cell knockouts resemble neurofibromatosis type 2. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	T	2: 131,403,289 (GRCm39)	M267K	probably damaging	Het
Aen	T	C	7: 78,555,793 (GRCm39)		probably null	Het
Ano2	A	G	6: 125,992,502 (GRCm39)	D825G	probably damaging	Het
Bdh2	T	C	3: 135,001,025 (GRCm39)	S142P	probably damaging	Het
Celsr1	A	G	15: 85,800,924 (GRCm39)	L2507P	possibly damaging	Het
Ces3a	T	C	8: 105,782,212 (GRCm39)	F308S	probably benign	Het
Cfap47	C	T	X: 78,454,218 (GRCm39)	R1646Q	probably damaging	Het
Chd4	T	A	6: 125,082,320 (GRCm39)	M603K	probably damaging	Het
Cit	T	C	5: 116,106,068 (GRCm39)	V984A	probably benign	Het
Clstn3	A	T	6: 124,436,166 (GRCm39)	D194E	probably damaging	Het
Ctdp1	T	C	18: 80,492,696 (GRCm39)	R600G	probably benign	Het
Ctnnd1	C	T	2: 84,439,907 (GRCm39)	G801D	probably damaging	Het
Dgkg	A	G	16: 22,407,049 (GRCm39)	F179L	probably damaging	Het
Dlg3	G	A	X: 99,817,827 (GRCm39)	D379N	probably damaging	Het
Drd2	G	T	9: 49,314,571 (GRCm39)	R267S	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edc3	T	C	9: 57,620,826 (GRCm39)	V49A	probably damaging	Het
Ern1	G	A	11: 106,300,750 (GRCm39)	T548I	probably benign	Het
Fam186a	T	C	15: 99,838,192 (GRCm39)	D2684G	possibly damaging	Het
Fam20a	A	G	11: 109,565,449 (GRCm39)	M454T	probably benign	Het
Fbp2	A	G	13: 63,006,056 (GRCm39)	M19T	possibly damaging	Het
Frmd4b	A	T	6: 97,464,577 (GRCm39)	C47S	probably damaging	Het
Gtf2h1	T	A	7: 46,464,747 (GRCm39)	I388N	possibly damaging	Het
Hectd4	T	C	5: 121,453,206 (GRCm39)	V571A	possibly damaging	Het
Helz2	T	A	2: 180,870,841 (GRCm39)	K2832*	probably null	Het
Herc1	T	A	9: 66,372,688 (GRCm39)	D3081E	probably damaging	Het
Hmcn1	A	T	1: 150,591,566 (GRCm39)	S1878T	probably damaging	Het
Iars1	A	G	13: 49,841,605 (GRCm39)		probably null	Het
Il17rd	A	T	14: 26,816,835 (GRCm39)	K180M	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Khdrbs1	A	G	4: 129,613,830 (GRCm39)		probably null	Het
Lce3a	A	C	3: 92,832,837 (GRCm39)	S88A	unknown	Het
Lgals12	C	T	19: 7,578,606 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,399,373 (GRCm39)	T57A	probably benign	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc4c	C	G	2: 97,459,657 (GRCm39)	N94K	possibly damaging	Het
Mag	A	T	7: 30,600,066 (GRCm39)	Y571*	probably null	Het
Mbd1	T	A	18: 74,410,449 (GRCm39)	D583E	probably damaging	Het
Mill1	T	A	7: 17,998,544 (GRCm39)	Y251*	probably null	Het
Mllt10	T	C	2: 18,211,871 (GRCm39)	I928T	probably benign	Het
Ms4a18	T	C	19: 10,991,029 (GRCm39)	T22A	probably benign	Het
Mtmr14	T	C	6: 113,257,700 (GRCm39)	F250L	probably damaging	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myorg	A	G	4: 41,497,704 (GRCm39)	I642T	probably damaging	Het
Nat10	C	A	2: 103,556,522 (GRCm39)	E885D	probably benign	Het
Nbeal1	T	A	1: 60,321,054 (GRCm39)	L2055H	probably damaging	Het
Necab3	T	A	2: 154,388,999 (GRCm39)	I192F	possibly damaging	Het
Nedd4	T	A	9: 72,650,000 (GRCm39)	N783K	probably damaging	Het
Nox4	T	A	7: 87,023,588 (GRCm39)	F491L	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or4c125	A	T	2: 89,170,009 (GRCm39)	Y212*	probably null	Het
Or4c127	T	A	2: 89,832,774 (GRCm39)	I8N	probably damaging	Het
Or8i2	A	G	2: 86,852,855 (GRCm39)	V11A	probably benign	Het
Osbpl5	A	T	7: 143,247,596 (GRCm39)	Y723*	probably null	Het
Otop2	T	C	11: 115,217,757 (GRCm39)	S198P	possibly damaging	Het
Pgam5	T	G	5: 110,413,785 (GRCm39)	H126P	probably damaging	Het
Phip	A	T	9: 82,753,868 (GRCm39)	N1625K	probably damaging	Het
Phospho2	T	A	2: 69,626,451 (GRCm39)	Y202*	probably null	Het
Pkd1l3	T	A	8: 110,347,156 (GRCm39)	H176Q	unknown	Het
Plxdc2	A	G	2: 16,570,147 (GRCm39)	R109G	probably damaging	Het
Prorsd1	T	C	11: 29,463,592 (GRCm39)	K57E	probably benign	Het
Rnf150	A	T	8: 83,591,020 (GRCm39)	R128W	probably damaging	Het
Samm50	G	A	15: 84,084,625 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,722,909 (GRCm39)	Y889*	probably null	Het
Slc35b1	T	C	11: 95,276,640 (GRCm39)	Y40H	probably damaging	Het
Speg	A	G	1: 75,394,371 (GRCm39)	H1722R	probably damaging	Het
Suz12	T	C	11: 79,913,024 (GRCm39)	L356P	probably damaging	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Trim2	G	A	3: 84,098,225 (GRCm39)	Q359*	probably null	Het
Ttc28	T	C	5: 111,371,362 (GRCm39)	Y635H	probably damaging	Het
Ttn	C	T	2: 76,543,549 (GRCm39)	E33146K	probably damaging	Het
Vcp	G	T	4: 42,982,547 (GRCm39)	T715K	probably benign	Het
Vmn1r230	T	A	17: 21,067,355 (GRCm39)	N181K	probably benign	Het
Vmn2r17	T	A	5: 109,582,144 (GRCm39)	M511K	possibly damaging	Het
Wdfy3	C	T	5: 102,055,408 (GRCm39)	R1554Q	possibly damaging	Het
Zfp112	A	T	7: 23,824,863 (GRCm39)	Q277L	probably damaging	Het
Zfp850	T	C	7: 27,684,620 (GRCm39)	E42G	probably damaging	Het
Zfp976	G	A	7: 42,262,695 (GRCm39)	P381S	probably damaging	Het
Zzef1	A	T	11: 72,800,982 (GRCm39)		probably null	Het

Other mutations in Nf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Nf2	APN	11	4,741,123 (GRCm39)	missense	probably benign	0.00
IGL01072:Nf2	APN	11	4,739,713 (GRCm39)	missense	probably null	0.00
IGL01349:Nf2	APN	11	4,734,472 (GRCm39)	missense	possibly damaging	0.94
IGL01686:Nf2	APN	11	4,768,613 (GRCm39)	missense	probably benign
IGL01820:Nf2	APN	11	4,739,655 (GRCm39)	splice site	probably null
IGL02251:Nf2	APN	11	4,798,873 (GRCm39)	missense	probably null	1.00
IGL02755:Nf2	APN	11	4,768,542 (GRCm39)	missense	probably damaging	1.00
IGL02859:Nf2	APN	11	4,741,209 (GRCm39)	missense	probably damaging	1.00
R0331:Nf2	UTSW	11	4,744,914 (GRCm39)	missense	probably benign	0.21
R0513:Nf2	UTSW	11	4,741,185 (GRCm39)	missense	possibly damaging	0.56
R0606:Nf2	UTSW	11	4,732,194 (GRCm39)	missense	possibly damaging	0.90
R0734:Nf2	UTSW	11	4,770,409 (GRCm39)	missense	probably benign	0.00
R1749:Nf2	UTSW	11	4,753,694 (GRCm39)	missense	possibly damaging	0.60
R4073:Nf2	UTSW	11	4,798,958 (GRCm39)	missense	probably benign	0.27
R4355:Nf2	UTSW	11	4,730,613 (GRCm39)	nonsense	probably null
R4629:Nf2	UTSW	11	4,798,915 (GRCm39)	missense	probably damaging	0.99
R5129:Nf2	UTSW	11	4,766,145 (GRCm39)	missense	probably benign
R5130:Nf2	UTSW	11	4,779,862 (GRCm39)	intron	probably benign
R5580:Nf2	UTSW	11	4,753,689 (GRCm39)	missense	probably damaging	1.00
R5599:Nf2	UTSW	11	4,732,269 (GRCm39)	missense	probably damaging	1.00
R5840:Nf2	UTSW	11	4,766,146 (GRCm39)	missense	probably benign	0.24
R6017:Nf2	UTSW	11	4,766,137 (GRCm39)	missense	possibly damaging	0.95
R6029:Nf2	UTSW	11	4,734,566 (GRCm39)	splice site	probably null
R6230:Nf2	UTSW	11	4,758,262 (GRCm39)	missense	possibly damaging	0.81
R6897:Nf2	UTSW	11	4,749,878 (GRCm39)	missense	probably damaging	1.00
R6990:Nf2	UTSW	11	4,749,944 (GRCm39)	missense	probably benign	0.09
R7155:Nf2	UTSW	11	4,749,964 (GRCm39)	missense	probably damaging	0.96
R7826:Nf2	UTSW	11	4,739,750 (GRCm39)	missense	probably benign	0.35
R8427:Nf2	UTSW	11	4,741,118 (GRCm39)	missense	probably benign	0.00
R8717:Nf2	UTSW	11	4,766,099 (GRCm39)	missense	probably damaging	1.00
R9154:Nf2	UTSW	11	4,744,873 (GRCm39)	missense	probably damaging	1.00
RF028:Nf2	UTSW	11	4,779,936 (GRCm39)	frame shift	probably null
RF031:Nf2	UTSW	11	4,779,936 (GRCm39)	frame shift	probably null
RF032:Nf2	UTSW	11	4,779,936 (GRCm39)	frame shift	probably null
RF033:Nf2	UTSW	11	4,779,936 (GRCm39)	frame shift	probably null
RF041:Nf2	UTSW	11	4,779,936 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGGGATTAAAGGGCTTTCACC -3'
(R):5'- TGGGTTACAAGAGAGCCATG -3'

Sequencing Primer
(F):5'- CTTTCACCGACAAGGAGATGGTC -3'
(R):5'- CTTGTCAGATATAACAGTGTGTGCC -3'

Posted On

2014-10-02