Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Nf2'

54160

Institutional Source

Beutler Lab

Gene Symbol

Nf2

Ensembl Gene

ENSMUSG00000009073

Gene Name

neurofibromin 2

Synonyms

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

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0606 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

4715845-4799536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4732194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 507 (I507T)

Gene Model

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

AlphaFold

P46662

Predicted Effect

probably benign
Transcript: ENSMUST00000053079
AA Change: I578T

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000055033
Gene: ENSMUSG00000009073
AA Change: I578T

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: I578T

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000055061
Gene: ENSMUSG00000009073
AA Change: I578T

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

possibly damaging
Transcript: ENSMUST00000093374
AA Change: I507T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091066
Gene: ENSMUSG00000009073
AA Change: I507T

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: I578T

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105536
Gene: ENSMUSG00000009073
AA Change: I578T

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

noncoding transcript
Transcript: ENSMUST00000141342

Predicted Effect

probably benign
Transcript: ENSMUST00000152656

SMART Domains

Protein: ENSMUSP00000128494
Gene: ENSMUSG00000009073

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

Meta Mutation Damage Score

0.6820

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	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
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
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'- TCTTACACAAAGATGGAAGGGACGC -3'
(R):5'- GTTGCACCAGAGTGGAGTACATGG -3'

Sequencing Primer
(F):5'- TGACGCCTTGGGCATAAGTC -3'
(R):5'- TACATGGAGAAGAGCAAGCACC -3'

Posted On

2013-07-11