Incidental Mutation 'R6990:Nf2'
| ID |
543208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nf2
|
| Ensembl Gene |
ENSMUSG00000009073 |
| Gene Name |
neurofibromin 2 |
| Synonyms |
schwannomin, merlin, moesin-ezrin-radixin-like protein |
| MMRRC Submission |
045096-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6990 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4715845-4799536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4749944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 46
(I46V)
|
| 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: I243V
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000055033
Gene: ENSMUSG00000009073
AA Change: I243V
| 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: I243V
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000055061
Gene: ENSMUSG00000009073
AA Change: I243V
| 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: I172V
| 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 benign
Transcript: ENSMUST00000109910
AA Change: I243V
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105536
Gene: ENSMUSG00000009073
AA Change: I243V
| 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 benign
Transcript: ENSMUST00000152656
AA Change: I46V
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128494
Gene: ENSMUSG00000009073
AA Change: I46V
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
G |
10: 78,902,925 (GRCm39) |
T464P |
probably damaging |
Het |
| Abca16 |
A |
G |
7: 120,126,950 (GRCm39) |
I1214V |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,833,860 (GRCm39) |
F869S |
probably damaging |
Het |
| Astn2 |
G |
T |
4: 65,910,540 (GRCm39) |
H431N |
possibly damaging |
Het |
| Bap1 |
A |
G |
14: 30,977,608 (GRCm39) |
T308A |
probably benign |
Het |
| Bcr |
G |
A |
10: 74,966,868 (GRCm39) |
E492K |
possibly damaging |
Het |
| Bltp3b |
A |
G |
10: 89,641,979 (GRCm39) |
D1050G |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,229,501 (GRCm39) |
F444L |
probably damaging |
Het |
| Chd7 |
A |
T |
4: 8,844,525 (GRCm39) |
T1545S |
probably benign |
Het |
| Dnmt1 |
A |
T |
9: 20,827,110 (GRCm39) |
Y877* |
probably null |
Het |
| Fam13b |
A |
G |
18: 34,630,500 (GRCm39) |
V86A |
possibly damaging |
Het |
| Gm11562 |
T |
A |
11: 99,510,817 (GRCm39) |
R128W |
unknown |
Het |
| Krt86 |
A |
G |
15: 101,371,714 (GRCm39) |
I95V |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,942,284 (GRCm39) |
T349A |
possibly damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,310,605 (GRCm39) |
L38Q |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,468,221 (GRCm39) |
S339P |
probably damaging |
Het |
| Nr1h4 |
T |
C |
10: 89,290,792 (GRCm39) |
D416G |
probably benign |
Het |
| Oga |
G |
A |
19: 45,755,915 (GRCm39) |
A576V |
probably benign |
Het |
| Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
| Or4p18 |
A |
G |
2: 88,232,639 (GRCm39) |
M213T |
probably benign |
Het |
| Pde1c |
C |
G |
6: 56,419,020 (GRCm39) |
E87Q |
possibly damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pga5 |
A |
T |
19: 10,646,779 (GRCm39) |
D317E |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,844,067 (GRCm39) |
K568N |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,109,161 (GRCm39) |
D290G |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,596,990 (GRCm39) |
K617E |
probably damaging |
Het |
| Slc7a14 |
G |
A |
3: 31,277,728 (GRCm39) |
P626S |
possibly damaging |
Het |
| Speer4b |
A |
T |
5: 27,702,076 (GRCm39) |
L228* |
probably null |
Het |
| Spns2 |
T |
C |
11: 72,380,447 (GRCm39) |
T59A |
probably benign |
Het |
| Tbc1d5 |
A |
T |
17: 51,275,260 (GRCm39) |
N78K |
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,788,686 (GRCm39) |
V341A |
probably benign |
Het |
| Trpt1 |
A |
G |
19: 6,975,683 (GRCm39) |
T146A |
probably benign |
Het |
| Tyrp1 |
T |
C |
4: 80,753,674 (GRCm39) |
C122R |
probably damaging |
Het |
| Uchl1 |
A |
G |
5: 66,839,818 (GRCm39) |
E120G |
possibly damaging |
Het |
| Ucn3 |
C |
T |
13: 3,991,295 (GRCm39) |
R119Q |
possibly damaging |
Het |
| Vmn2r2 |
T |
G |
3: 64,024,608 (GRCm39) |
I658L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,082 (GRCm39) |
V444E |
probably benign |
Het |
| Wdr54 |
A |
C |
6: 83,132,629 (GRCm39) |
|
probably null |
Het |
| Xcr1 |
A |
G |
9: 123,685,300 (GRCm39) |
L154P |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,557 (GRCm39) |
K160E |
probably benign |
Het |
| Zfp157 |
T |
G |
5: 138,454,772 (GRCm39) |
Y323* |
probably null |
Het |
| Zfp850 |
A |
T |
7: 27,689,801 (GRCm39) |
F136I |
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 |
|
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 |
|
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'- CTTGGAGAGCTTCGGCAAAG -3'
(R):5'- CTGCTTCCCCAAATCTAGAAGC -3'
Sequencing Primer
(F):5'- TTCGGCAAAGAAGAGAAATGGG -3'
(R):5'- ATCTAGAAGCTGGAAGCCTTCTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation