Incidental Mutation 'RF041:Nf2'
ID 604828
Institutional Source Beutler Lab
Gene Symbol Nf2
Ensembl Gene ENSMUSG00000009073
Gene Name neurofibromin 2
Synonyms schwannomin, merlin, moesin-ezrin-radixin-like protein
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF041 (G1)
Quality Score 214.458
Status Not validated
Chromosome 11
Chromosomal Location 4715845-4799536 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AAAAG to A at 4779936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053079] [ENSMUST00000056290] [ENSMUST00000109910] [ENSMUST00000164190] [ENSMUST00000172305]
AlphaFold P46662
Predicted Effect probably benign
Transcript: ENSMUST00000053079
SMART Domains Protein: ENSMUSP00000055033
Gene: ENSMUSG00000009073

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000055061
Gene: ENSMUSG00000009073

DomainStartEndE-ValueType
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: ENSMUST00000109910
SMART Domains Protein: ENSMUSP00000105536
Gene: ENSMUSG00000009073

DomainStartEndE-ValueType
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: ENSMUST00000164190
SMART Domains Protein: ENSMUSP00000129388
Gene: ENSMUSG00000009073

DomainStartEndE-ValueType
B41 18 181 1.24e-45 SMART
FERM_C 160 229 1.23e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000172305
SMART Domains Protein: ENSMUSP00000130263
Gene: ENSMUSG00000009073

DomainStartEndE-ValueType
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: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik TGAGGA TGA 12: 72,928,050 (GRCm39) probably benign Het
5430401F13Rik CCAGCAAAAACAGAAAGGAAAAGG CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG 6: 131,529,836 (GRCm39) probably benign Het
5430401F13Rik AAAGGTGGC AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC 6: 131,529,855 (GRCm39) probably benign Het
5430401F13Rik AGGTGGCCAG AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,857 (GRCm39) probably benign Het
Abcf1 CTCTTC CTC 17: 36,274,093 (GRCm39) probably benign Het
Acap3 GGCTGC GGCTGCGGCATCCTGTGCTGC 4: 155,989,557 (GRCm39) probably benign Het
AI837181 GGC GGCTGC 19: 5,475,257 (GRCm39) probably benign Het
Arid1b CGG CGGTGG 17: 5,045,870 (GRCm39) probably benign Het
AY761185 CACTGTGGG C 8: 21,433,928 (GRCm39) probably null Het
Btnl1 C T 17: 34,600,342 (GRCm39) T246M probably benign Het
Cdc40 C T 10: 40,719,119 (GRCm39) D337N probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cul9 CCT CCTACT 17: 46,811,780 (GRCm39) probably null Het
Defb22 GCTGGCCTTTGC GCTGGCCTTTGCCGCAGACCTGGCCTTTGC 2: 152,327,743 (GRCm39) probably benign Het
Dmkn GGGGTGGAAG GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG 7: 30,466,598 (GRCm39) probably benign Het
Flywch1 GT GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT 17: 23,981,151 (GRCm39) probably null Het
Flywch1 CTCACCCACTCCTGGTGT CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT 17: 23,981,135 (GRCm39) probably null Het
Gabre CTCCGG CTCCGGATCCGG X: 71,313,655 (GRCm39) probably benign Het
Gm8369 GTGTGT GTGTGTATGTGT 19: 11,489,122 (GRCm39) probably benign Het
Gykl1 G A 18: 52,827,488 (GRCm39) R232Q probably benign Het
Il2 GG GGGCTTGAAGTGCG 3: 37,179,991 (GRCm39) probably benign Het
Iqcf4 CTTTTCCTTTT CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT 9: 106,447,812 (GRCm39) probably null Het
Kif12 GGC GGCCTCCACCCGGCGTGC 4: 63,089,662 (GRCm39) probably benign Het
Kmt2c TG TGTTGCAG 5: 25,520,773 (GRCm39) probably benign Het
Lce1m CTGCTGCTGCC CTGCTGCTGCCCTTGCTGCTGCC 3: 92,925,448 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,432 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,435 (GRCm39) probably benign Het
Med12l GC GCACC 3: 59,183,416 (GRCm39) probably benign Het
Med12l AGC AGCTGC 3: 59,183,406 (GRCm39) probably benign Het
Nefh CCTCACCTGGGG CCTCACCTGGGGCCTTGGGCTCACCTGGGG 11: 4,891,039 (GRCm39) probably benign Het
Ngfr CAGG C 11: 95,478,337 (GRCm39) probably benign Het
Nusap1 GTGAGGAGCAAGCTGA GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA 2: 119,458,074 (GRCm39) probably benign Het
Nusap1 GATACACGTTAGCAGTGAGGAGCAAGCTGA GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA 2: 119,458,060 (GRCm39) probably benign Het
Nusap1 GAGA GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA 2: 119,458,088 (GRCm39) probably null Het
Phc1 TG TGCTGCGG 6: 122,300,559 (GRCm39) probably benign Het
Pnma8a CAACATC CAACATCTCATGATGCACCTGCTTAAACATC 7: 16,695,369 (GRCm39) probably null Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Setd1a GGTGGTGGT GGTGGTGGTCGTGGTGGT 7: 127,384,504 (GRCm39) probably benign Het
Sfr1 ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC 19: 47,721,307 (GRCm39) probably benign Het
Slc39a4 TGTGGTC TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC 15: 76,499,066 (GRCm39) probably benign Het
Smarca2 AGC AGCCCCTGC 19: 26,608,421 (GRCm39) probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Tcof1 CCCCTTG CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG 18: 60,966,648 (GRCm39) probably benign Het
Tcof1 AGATCCCCTTGGC AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC 18: 60,966,644 (GRCm39) probably benign Het
Tfeb GCA GCATCA 17: 48,097,025 (GRCm39) probably benign Het
Tmem59 T TGTTTGTTG 4: 107,047,729 (GRCm39) probably benign Het
Tob1 CACA CACAACA 11: 94,105,277 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Unc13b AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG 4: 43,177,338 (GRCm39) probably benign Het
Usp19 GTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGT 9: 108,371,187 (GRCm39) unknown Het
Other mutations in Nf2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GGAGTAATCTTACCAGCCCTG -3'
(R):5'- CATCACACTGCAGCCTGTTA -3'

Sequencing Primer
(F):5'- CTGTTCCTAGTCAAGTCAAGGAGC -3'
(R):5'- CTGCAGCCTGTTAATGGAAC -3'
Posted On 2019-12-04