Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Nf2'

557231

Institutional Source

Beutler Lab

Gene Symbol

Nf2

Ensembl Gene

ENSMUSG00000009073

Gene Name

neurofibromin 2

Synonyms

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

MMRRC Submission

045226-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4715845-4799536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4749964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 236 (V236A)

Ref Sequence

ENSEMBL: ENSMUSP00000105536 (fasta)

Gene Model

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

AlphaFold

P46662

Predicted Effect

probably damaging
Transcript: ENSMUST00000053079
AA Change: V236A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055033
Gene: ENSMUSG00000009073
AA Change: V236A

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: V236A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055061
Gene: ENSMUSG00000009073
AA Change: V236A

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

SMART Domains

Protein: ENSMUSP00000091066
Gene: ENSMUSG00000009073
AA Change: V165A

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

probably damaging
Transcript: ENSMUST00000109910
AA Change: V236A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105536
Gene: ENSMUSG00000009073
AA Change: V236A

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: V39A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128494
Gene: ENSMUSG00000009073
AA Change: V39A

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,489 (GRCm39)	L63P	possibly damaging	Het
Abca13	A	T	11: 9,479,010 (GRCm39)	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 25,095,572 (GRCm39)	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,241,141 (GRCm39)	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,707,733 (GRCm39)	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,616,879 (GRCm39)	Y383*	probably null	Het
Aste1	C	T	9: 105,282,335 (GRCm39)	P614L	probably damaging	Het
B3galt5	T	A	16: 96,117,005 (GRCm39)	S213T	probably damaging	Het
Bak1	A	G	17: 27,241,434 (GRCm39)	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bdp1	T	G	13: 100,197,659 (GRCm39)	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,279,439 (GRCm39)	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,111,772 (GRCm39)	P246Q	probably damaging	Het
Colgalt1	T	C	8: 72,076,354 (GRCm39)	S602P	probably damaging	Het
Csde1	T	C	3: 102,947,269 (GRCm39)	S74P	probably damaging	Het
Cyp51	A	T	5: 4,137,846 (GRCm39)	C366S	possibly damaging	Het
Dcaf7	A	G	11: 105,928,016 (GRCm39)	N23D	probably damaging	Het
Ddx10	G	A	9: 53,028,588 (GRCm39)	A772V	probably benign	Het
Ddx4	A	G	13: 112,750,319 (GRCm39)	F404S	probably benign	Het
Dlg4	T	A	11: 69,908,042 (GRCm39)	M1K	probably null	Het
Dnajc6	T	C	4: 101,470,142 (GRCm39)	V293A	probably damaging	Het
Etl4	G	T	2: 20,811,742 (GRCm39)	R1643L	probably damaging	Het
F13b	G	A	1: 139,435,895 (GRCm39)	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,226,766 (GRCm39)	I633T	probably benign	Het
Frem3	A	G	8: 81,342,668 (GRCm39)	I1654V	probably benign	Het
Galr2	A	G	11: 116,174,408 (GRCm39)	E346G	possibly damaging	Het
Gck	G	A	11: 5,899,705 (GRCm39)		probably benign	Het
Gen1	G	T	12: 11,291,833 (GRCm39)	T717K	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hat1	A	G	2: 71,251,595 (GRCm39)	T215A	possibly damaging	Het
Hmbox1	A	T	14: 65,134,486 (GRCm39)	M38K	probably damaging	Het
Ifi47	A	G	11: 48,987,369 (GRCm39)	K379E	probably benign	Het
Ift81	T	C	5: 122,707,062 (GRCm39)	Y460C	probably damaging	Het
Jarid2	T	A	13: 45,055,938 (GRCm39)	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,279,388 (GRCm39)	V1458E	probably damaging	Het
Kpna4	G	T	3: 68,997,266 (GRCm39)	P336Q	probably damaging	Het
Krt84	T	C	15: 101,440,689 (GRCm39)	R168G	probably damaging	Het
Lhx8	T	A	3: 154,030,221 (GRCm39)	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,019,651 (GRCm39)	E19G	probably damaging	Het
Lrmda	A	T	14: 22,634,608 (GRCm39)	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,389,512 (GRCm39)	A280T	possibly damaging	Het
Megf11	G	A	9: 64,555,233 (GRCm39)	R268K	probably null	Het
Mgat4e	G	T	1: 134,469,697 (GRCm39)	Q116K	probably damaging	Het
Mlkl	A	G	8: 112,046,035 (GRCm39)	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641 (GRCm39)	L134P	probably damaging	Het
Myo19	A	G	11: 84,791,412 (GRCm39)	E489G	probably damaging	Het
Ncbp3	C	A	11: 72,938,835 (GRCm39)	P37Q	probably damaging	Het
Nlrp1a	A	T	11: 71,014,905 (GRCm39)	M115K	possibly damaging	Het
Nsf	T	A	11: 103,719,356 (GRCm39)	K649*	probably null	Het
Olfml2b	A	T	1: 170,494,354 (GRCm39)	I313L	probably benign	Het
Or2ak4	T	A	11: 58,649,109 (GRCm39)	I206N	probably damaging	Het
Or52u1	T	A	7: 104,237,764 (GRCm39)	V251D	possibly damaging	Het
Papln	T	A	12: 83,823,295 (GRCm39)	L444Q	probably damaging	Het
Phc3	T	C	3: 30,968,346 (GRCm39)	I897V	probably benign	Het
Plcg1	T	C	2: 160,596,300 (GRCm39)	L632P	probably damaging	Het
Pramel21	A	T	4: 143,342,735 (GRCm39)	I281F	probably benign	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Ptges	T	A	2: 30,782,816 (GRCm39)	T79S	probably benign	Het
Rab26	T	C	17: 24,751,263 (GRCm39)	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,089 (GRCm39)	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 89,884,414 (GRCm39)	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,821,455 (GRCm39)	I755F	probably damaging	Het
Rims1	T	G	1: 22,503,174 (GRCm39)	L670F	probably damaging	Het
Rtkn	G	A	6: 83,126,692 (GRCm39)	C297Y	probably damaging	Het
Sec23a	A	T	12: 59,036,229 (GRCm39)	N378K	probably benign	Het
Slc1a2	T	C	2: 102,597,340 (GRCm39)	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,652,518 (GRCm39)	L369F	possibly damaging	Het
Slc34a1	A	G	13: 24,006,390 (GRCm39)	E472G	probably benign	Het
Slc49a4	G	T	16: 35,555,947 (GRCm39)	T171K	probably benign	Het
Smad6	G	T	9: 63,929,069 (GRCm39)	D82E	unknown	Het
Smgc	A	T	15: 91,736,811 (GRCm39)	I463F	possibly damaging	Het
Strada	C	A	11: 106,061,865 (GRCm39)	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,570,825 (GRCm39)	V309A	probably benign	Het
Tet2	C	T	3: 133,175,352 (GRCm39)	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,362 (GRCm39)	N366D	probably damaging	Het
Tll2	G	A	19: 41,105,723 (GRCm39)	P369L	possibly damaging	Het
Tox4	T	C	14: 52,529,554 (GRCm39)	V505A	probably benign	Het
Trbv4	A	G	6: 41,036,787 (GRCm39)	D104G	probably damaging	Het
Ugdh	T	C	5: 65,574,380 (GRCm39)	E416G	probably damaging	Het
Usp47	T	A	7: 111,686,220 (GRCm39)	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,115,147 (GRCm39)	N270K	probably benign	Het
Wsb2	T	A	5: 117,509,160 (GRCm39)	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,861,198 (GRCm39)	A453T	possibly damaging	Het
Zan	A	G	5: 137,460,106 (GRCm39)	S1262P	unknown	Het
Zswim4	A	G	8: 84,946,556 (GRCm39)	L700P	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
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
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'- ACAAGGAGATGGTCTGGCTTG -3'
(R):5'- AGAAGCTGGAAGCCTTCTG -3'

Sequencing Primer
(F):5'- CTTGGAGAGCTTCGGCAAAG -3'
(R):5'- CCTTCTGGGTTACAAGAGAGC -3'

Posted On

2019-06-26