Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Nf2'

26070

Institutional Source

Beutler Lab

Gene Symbol

Nf2

Ensembl Gene

ENSMUSG00000009073

Gene Name

neurofibromin 2

Synonyms

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

MMRRC Submission

038540-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4715845-4799536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4744914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 75 (T75S)

Ref Sequence

ENSEMBL: ENSMUSP00000128494 (fasta)

Gene Model

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

AlphaFold

P46662

Predicted Effect

probably benign
Transcript: ENSMUST00000053079
AA Change: T272S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055033
Gene: ENSMUSG00000009073
AA Change: T272S

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 benign
Transcript: ENSMUST00000056290
AA Change: T272S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055061
Gene: ENSMUSG00000009073
AA Change: T272S

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: T201S

SMART Domains

Protein: ENSMUSP00000091066
Gene: ENSMUSG00000009073
AA Change: T201S

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 benign
Transcript: ENSMUST00000109910
AA Change: T272S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105536
Gene: ENSMUSG00000009073
AA Change: T272S

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

unknown
Transcript: ENSMUST00000137926
AA Change: T120S

SMART Domains

Protein: ENSMUSP00000116505
Gene: ENSMUSG00000009073
AA Change: T120S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152656
AA Change: T75S

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128494
Gene: ENSMUSG00000009073
AA Change: T75S

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
AA Change: T186S

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129388
Gene: ENSMUSG00000009073
AA Change: T186S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155600

Meta Mutation Damage Score

0.1279

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

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
1700011L22Rik	T	A	8: 79,956,021 (GRCm39)	T79S	probably benign	Het
Abtb1	T	C	6: 88,817,684 (GRCm39)		probably benign	Het
Acot12	G	A	13: 91,908,183 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,078,541 (GRCm39)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,203,577 (GRCm39)	S96P	probably benign	Het
Aip	G	T	19: 4,168,247 (GRCm39)	T40K	probably damaging	Het
Anapc4	A	G	5: 53,012,984 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,103,618 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,538,161 (GRCm39)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,866,953 (GRCm39)	Q127*	probably null	Het
Axin1	A	G	17: 26,362,081 (GRCm39)	R142G	probably damaging	Het
Bcat1	T	A	6: 144,993,040 (GRCm39)	E86V	probably benign	Het
Brd4	G	A	17: 32,421,489 (GRCm39)	P749L	probably benign	Het
C1ra	G	A	6: 124,496,394 (GRCm39)		probably null	Het
Capza2	A	T	6: 17,665,102 (GRCm39)	N237I	probably benign	Het
Cd2ap	A	T	17: 43,116,192 (GRCm39)	V556E	probably benign	Het
Cfap65	G	A	1: 74,968,460 (GRCm39)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,968,461 (GRCm39)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,225 (GRCm39)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,193,337 (GRCm39)		probably null	Het
Cmya5	T	G	13: 93,280,911 (GRCm39)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,796,570 (GRCm39)		probably benign	Het
Crmp1	C	T	5: 37,422,657 (GRCm39)	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,291,227 (GRCm39)	T33S	probably benign	Het
Dhdh	T	C	7: 45,137,544 (GRCm39)	K48E	probably benign	Het
Dlst	T	C	12: 85,165,586 (GRCm39)	V103A	probably damaging	Het
Dohh	C	T	10: 81,223,646 (GRCm39)	T233I	probably benign	Het
Dvl2	C	A	11: 69,897,043 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,914,703 (GRCm39)	Q286*	probably null	Het
Enpp6	C	A	8: 47,535,484 (GRCm39)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,661,895 (GRCm39)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,622,215 (GRCm39)	N231K	probably benign	Het
Gm6370	A	T	5: 146,430,576 (GRCm39)	T254S	probably benign	Het
Hapln4	G	T	8: 70,537,159 (GRCm39)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,056,316 (GRCm39)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,839,092 (GRCm39)	L101P	probably damaging	Het
Itga10	T	C	3: 96,559,799 (GRCm39)	Y485H	probably damaging	Het
Itgal	T	A	7: 126,905,853 (GRCm39)		probably null	Het
Itln1	T	C	1: 171,359,117 (GRCm39)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,693,289 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,226,479 (GRCm39)		probably benign	Het
Lman2	A	T	13: 55,500,829 (GRCm39)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,342,101 (GRCm39)		probably benign	Het
Myo3b	G	T	2: 69,925,605 (GRCm39)	G24V	probably damaging	Het
Nacad	T	A	11: 6,549,441 (GRCm39)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,161,981 (GRCm39)	M431K	unknown	Het
Nek9	T	A	12: 85,374,149 (GRCm39)		probably benign	Het
Neu1	C	A	17: 35,153,146 (GRCm39)	N255K	possibly damaging	Het
Nipal4	T	A	11: 46,041,040 (GRCm39)	D385V	probably damaging	Het
Olah	T	A	2: 3,343,511 (GRCm39)	N245I	probably damaging	Het
Or5p54	G	T	7: 107,554,077 (GRCm39)	L76F	probably benign	Het
Pag1	T	A	3: 9,767,030 (GRCm39)	T90S	probably benign	Het
Pald1	A	G	10: 61,176,708 (GRCm39)		probably null	Het
Parva	A	G	7: 112,144,005 (GRCm39)	M98V	probably benign	Het
Paxbp1	T	A	16: 90,834,255 (GRCm39)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,970,230 (GRCm39)	I587T	probably damaging	Het
Pclo	T	C	5: 14,730,390 (GRCm39)		probably benign	Het
Pdgfra	T	A	5: 75,355,713 (GRCm39)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,021,241 (GRCm39)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,893,794 (GRCm39)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,364,695 (GRCm39)	G40D	probably damaging	Het
Psg18	A	G	7: 18,087,233 (GRCm39)	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,733,017 (GRCm39)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm39)	D51G	probably benign	Het
Rnf139	T	A	15: 58,771,755 (GRCm39)	D593E	probably benign	Het
Septin7	A	G	9: 25,217,552 (GRCm39)	N422S	probably benign	Het
Shprh	T	C	10: 11,069,914 (GRCm39)		probably benign	Het
Slc7a6os	A	G	8: 106,937,199 (GRCm39)	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,615,381 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,609 (GRCm39)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,559 (GRCm39)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,234,132 (GRCm39)		probably null	Het
Trav13-5	A	G	14: 54,033,205 (GRCm39)	N38S	probably benign	Het
Ttn	G	T	2: 76,641,364 (GRCm39)	Y11801*	probably null	Het
Usp37	A	T	1: 74,493,223 (GRCm39)	L688*	probably null	Het
Usp38	T	C	8: 81,722,469 (GRCm39)	I351V	probably benign	Het
Vav2	T	A	2: 27,186,187 (GRCm39)	M223L	probably benign	Het
Wdr36	A	G	18: 32,985,968 (GRCm39)	I557M	possibly damaging	Het
Wwc2	A	T	8: 48,333,239 (GRCm39)	M259K	probably benign	Het
Znfx1	G	A	2: 166,888,898 (GRCm39)	S770L	probably benign	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
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
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'- ACAGTGCCACGGCATCCATTAC -3'
(R):5'- CCCATTTGTGCTAGGTCTGCTCTAAAC -3'

Sequencing Primer
(F):5'- GCCAGATAGATTCCTGGCAG -3'
(R):5'- Tcctactagactgtgagctttatg -3'

Posted On

2013-04-16