Mutagenetix > Incidental Mutation

Incidental Mutation 'R4629:Nf2'

349062

Institutional Source

Beutler Lab

Gene Symbol

Nf2

Ensembl Gene

ENSMUSG00000009073

Gene Name

neurofibromin 2

Synonyms

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

MMRRC Submission

041894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4629 (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 4798915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 24 (V24E)

Ref Sequence

ENSEMBL: ENSMUSP00000105536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053079] [ENSMUST00000056290] [ENSMUST00000109910] [ENSMUST00000164190] [ENSMUST00000172305]

AlphaFold

P46662

Predicted Effect

probably damaging
Transcript: ENSMUST00000053079
AA Change: V24E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055033
Gene: ENSMUSG00000009073
AA Change: V24E

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: V24E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055061
Gene: ENSMUSG00000009073
AA Change: V24E

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: ENSMUST00000109910
AA Change: V24E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105536
Gene: ENSMUSG00000009073
AA Change: V24E

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

possibly damaging
Transcript: ENSMUST00000164190
AA Change: V24E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129388
Gene: ENSMUSG00000009073
AA Change: V24E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172305
AA Change: V24E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130263
Gene: ENSMUSG00000009073
AA Change: V24E

Domain	Start	End	E-Value	Type
PDB:1H4R\|B	1	38	2e-18	PDB
Blast:B41	1	39	1e-18	BLAST
SCOP:d1h4ra3	20	42	2e-4	SMART
low complexity region	86	99	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	T	C	9: 114,108,419 (GRCm39)		noncoding transcript	Het
Abca6	T	C	11: 110,121,375 (GRCm39)		probably null	Het
Adam22	A	G	5: 8,282,663 (GRCm39)	S111P	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alg10b	C	T	15: 90,111,948 (GRCm39)	A264V	probably benign	Het
Angpt1	T	A	15: 42,301,796 (GRCm39)	Y404F	probably benign	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Asic5	T	A	3: 81,913,811 (GRCm39)	Y162N	probably damaging	Het
Cacna2d2	A	T	9: 107,404,521 (GRCm39)	E1104V	probably damaging	Het
Cad	G	A	5: 31,227,639 (GRCm39)	V1263I	probably damaging	Het
Cdc20	T	C	4: 118,290,761 (GRCm39)	E413G	probably damaging	Het
Cfap46	A	T	7: 139,260,843 (GRCm39)	L85Q	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cubn	T	A	2: 13,318,790 (GRCm39)		probably null	Het
Cx3cr1	T	C	9: 119,880,730 (GRCm39)	N224S	probably damaging	Het
Fam98c	T	C	7: 28,854,693 (GRCm39)	T49A	possibly damaging	Het
Fez2	C	T	17: 78,710,183 (GRCm39)	S202N	probably benign	Het
Fras1	A	G	5: 96,924,593 (GRCm39)	N3678S	probably benign	Het
Glyr1	A	G	16: 4,854,907 (GRCm39)	V57A	possibly damaging	Het
Gm5617	T	A	9: 48,407,187 (GRCm39)	L107Q	possibly damaging	Het
Gpnmb	A	G	6: 49,027,994 (GRCm39)	D401G	possibly damaging	Het
Gtpbp6	C	A	5: 110,254,774 (GRCm39)	V100L	possibly damaging	Het
Gucy1a1	A	G	3: 82,004,931 (GRCm39)	V618A	probably damaging	Het
H6pd	A	T	4: 150,080,803 (GRCm39)	M14K	probably benign	Het
Hectd4	A	G	5: 121,435,266 (GRCm39)	M993V	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama1	A	G	17: 68,112,355 (GRCm39)		probably null	Het
Lgr6	T	C	1: 135,032,670 (GRCm39)	Y70C	probably damaging	Het
Lipg	T	A	18: 75,081,107 (GRCm39)	K325*	probably null	Het
Lrrc43	T	C	5: 123,637,583 (GRCm39)	L250P	probably damaging	Het
Lyz1	C	T	10: 117,127,041 (GRCm39)	R65H	probably benign	Het
Marchf10	T	A	11: 105,280,664 (GRCm39)	L540F	probably benign	Het
Maz	G	T	7: 126,624,519 (GRCm39)	H334N	possibly damaging	Het
Myh1	A	G	11: 67,100,119 (GRCm39)	K646R	probably benign	Het
Nup210l	T	C	3: 90,075,182 (GRCm39)	S831P	probably benign	Het
Nup210l	C	T	3: 90,098,181 (GRCm39)	R1378*	probably null	Het
Or13a17	T	A	7: 140,271,291 (GRCm39)	S158T	probably benign	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Palb2	A	C	7: 121,727,189 (GRCm39)	I227S	possibly damaging	Het
Pate3	A	T	9: 35,557,453 (GRCm39)	C68S	probably damaging	Het
Pcdha12	T	A	18: 37,154,926 (GRCm39)	N548K	probably damaging	Het
Prdm10	C	T	9: 31,248,612 (GRCm39)	Q345*	probably null	Het
Ptx4	A	T	17: 25,341,737 (GRCm39)	N71Y	probably damaging	Het
Rab42	C	T	4: 132,030,548 (GRCm39)	R34Q	probably benign	Het
Rergl	A	G	6: 139,478,850 (GRCm39)	V8A	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rpia	A	G	6: 70,743,578 (GRCm39)	M291T	possibly damaging	Het
Rplp0	G	A	5: 115,699,482 (GRCm39)		probably null	Het
Rrp12	A	T	19: 41,871,955 (GRCm39)	I443N	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Saxo1	T	C	4: 86,406,064 (GRCm39)	Y45C	probably damaging	Het
Sec24a	A	T	11: 51,612,640 (GRCm39)		probably null	Het
Setdb2	A	G	14: 59,646,808 (GRCm39)	V585A	probably benign	Het
Sik1	T	C	17: 32,068,581 (GRCm39)	E347G	probably benign	Het
Srbd1	T	C	17: 86,428,100 (GRCm39)	T378A	probably damaging	Het
Tacr1	A	G	6: 82,380,861 (GRCm39)	T91A	probably benign	Het
Tas2r135	T	A	6: 42,383,160 (GRCm39)	M233K	probably benign	Het
Tfg	A	T	16: 56,533,039 (GRCm39)	M40K	probably damaging	Het
Tmem35b	C	T	4: 127,022,796 (GRCm39)	P133S	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Trpv3	A	T	11: 73,172,615 (GRCm39)	K253N	probably damaging	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc13a	A	G	8: 72,106,097 (GRCm39)	M669T	possibly damaging	Het
Vmn1r61	T	A	7: 5,614,249 (GRCm39)	I22F	probably benign	Het
Vmn2r26	A	T	6: 124,038,150 (GRCm39)	Q575L	possibly damaging	Het
Vmn2r81	A	T	10: 79,103,276 (GRCm39)	E156D	probably damaging	Het
Vwa3a	T	A	7: 120,392,598 (GRCm39)	N812K	probably benign	Het
Wasl	T	C	6: 24,637,680 (GRCm39)	R71G	probably damaging	Het
Wdfy4	A	T	14: 32,824,515 (GRCm39)	N1301K	probably damaging	Het
Zfp827	G	A	8: 79,787,011 (GRCm39)	R59Q	probably damaging	Het
Zfp87	A	G	13: 74,520,512 (GRCm39)	C189R	probably damaging	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
R2192:Nf2	UTSW	11	4,749,899 (GRCm39)	missense	probably damaging	1.00
R4073:Nf2	UTSW	11	4,798,958 (GRCm39)	missense	probably benign	0.27
R4355:Nf2	UTSW	11	4,730,613 (GRCm39)	nonsense	probably null
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'- GCTTGCACTTCGACTGTCAC -3'
(R):5'- CGTCAGAGACTGTCCCTTAACTC -3'

Sequencing Primer
(F):5'- TGTCACCACAGCGAGGG -3'
(R):5'- AGGCAGCCTAGGTCTGTCTC -3'

Posted On

2015-10-08