Incidental Mutation 'IGL01671:Metap2'
ID 103503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Metap2
Ensembl Gene ENSMUSG00000036112
Gene Name methionine aminopeptidase 2
Synonyms eIF-2-associated p67, 4930584B20Rik, A930035J23Rik, p67
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01671
Quality Score
Status
Chromosome 10
Chromosomal Location 93694351-93732952 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 93707340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047910] [ENSMUST00000180688] [ENSMUST00000180840] [ENSMUST00000181091] [ENSMUST00000181217]
AlphaFold O08663
Predicted Effect probably benign
Transcript: ENSMUST00000047910
SMART Domains Protein: ENSMUSP00000048285
Gene: ENSMUSG00000036112

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
low complexity region 77 108 N/A INTRINSIC
Pfam:Peptidase_M24 167 466 1.2e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180375
Predicted Effect probably benign
Transcript: ENSMUST00000180392
Predicted Effect probably benign
Transcript: ENSMUST00000180688
SMART Domains Protein: ENSMUSP00000137652
Gene: ENSMUSG00000036112

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
low complexity region 76 107 N/A INTRINSIC
Pfam:Peptidase_M24 166 233 2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180840
SMART Domains Protein: ENSMUSP00000138006
Gene: ENSMUSG00000036112

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
low complexity region 77 108 N/A INTRINSIC
Pfam:Peptidase_M24 167 466 2.8e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181091
SMART Domains Protein: ENSMUSP00000137904
Gene: ENSMUSG00000036112

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
low complexity region 77 108 N/A INTRINSIC
Pfam:Peptidase_M24 144 443 2.2e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181217
SMART Domains Protein: ENSMUSP00000138083
Gene: ENSMUSG00000036112

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
low complexity region 77 108 N/A INTRINSIC
Pfam:Peptidase_M24 177 476 2.7e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216232
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the methionyl aminopeptidase family. The encoded protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitory phosphorylation and by removing the amino-terminal methionine residue from nascent proteins. Increased expression of this gene is associated with various forms of cancer, and the anti-cancer drugs fumagillin and ovalicin inhibit the protein by irreversibly binding to its active site. Inhibitors of this gene have also been shown to be effective for the treatment of obesity. A pseudogene of this gene is located on chromosome 2. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E8.5, smaller size, failure to gastrulate, reduced cell proliferation and absence of a distinct mesoderm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc7 C T 5: 107,131,111 (GRCm39) P529S probably damaging Het
Defb45 T C 2: 152,435,331 (GRCm39) K26E probably benign Het
Dnajb8 T C 6: 88,199,902 (GRCm39) L146S probably benign Het
Egln1 T C 8: 125,637,454 (GRCm39) D399G probably benign Het
Ephb1 A T 9: 101,873,986 (GRCm39) C563S probably damaging Het
Gad2 T A 2: 22,513,711 (GRCm39) Y49* probably null Het
Gga2 A G 7: 121,594,079 (GRCm39) S470P probably benign Het
Gm21276 G T 7: 38,464,151 (GRCm39) noncoding transcript Het
Gm3115 G A 14: 4,084,189 (GRCm38) C9Y probably benign Het
H2-M1 T C 17: 36,981,330 (GRCm39) E235G probably damaging Het
Hjv T C 3: 96,435,807 (GRCm39) V355A probably damaging Het
Hsp90b1 C T 10: 86,540,189 (GRCm39) G41S probably benign Het
Mccc1 T C 3: 36,018,609 (GRCm39) D575G probably benign Het
Myh7 T C 14: 55,210,381 (GRCm39) T1775A probably damaging Het
Or2aj5 A G 16: 19,424,671 (GRCm39) I249T probably benign Het
Or5b3 T A 19: 13,388,255 (GRCm39) F107L probably benign Het
Or8g21 A G 9: 38,906,149 (GRCm39) V194A probably benign Het
Pak5 T C 2: 135,958,293 (GRCm39) D265G possibly damaging Het
Pex1 A G 5: 3,674,088 (GRCm39) I793V probably benign Het
Prkdc A G 16: 15,485,609 (GRCm39) I479V possibly damaging Het
Rhcg A C 7: 79,248,299 (GRCm39) I435S probably benign Het
Slc9c1 A T 16: 45,380,678 (GRCm39) T535S probably benign Het
Stab2 T C 10: 86,805,141 (GRCm39) D279G possibly damaging Het
Wdr83 T C 8: 85,802,448 (GRCm39) probably benign Het
Other mutations in Metap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02553:Metap2 APN 10 93,701,311 (GRCm39) missense probably damaging 1.00
R0212:Metap2 UTSW 10 93,697,242 (GRCm39) missense probably damaging 1.00
R0749:Metap2 UTSW 10 93,715,429 (GRCm39) missense probably benign 0.43
R1183:Metap2 UTSW 10 93,706,046 (GRCm39) missense probably damaging 1.00
R1459:Metap2 UTSW 10 93,704,811 (GRCm39) missense probably damaging 1.00
R1468:Metap2 UTSW 10 93,707,345 (GRCm39) splice site probably null
R1468:Metap2 UTSW 10 93,707,345 (GRCm39) splice site probably null
R1646:Metap2 UTSW 10 93,706,059 (GRCm39) missense probably damaging 1.00
R3810:Metap2 UTSW 10 93,706,026 (GRCm39) nonsense probably null
R3811:Metap2 UTSW 10 93,706,026 (GRCm39) nonsense probably null
R3812:Metap2 UTSW 10 93,706,026 (GRCm39) nonsense probably null
R4174:Metap2 UTSW 10 93,715,427 (GRCm39) missense possibly damaging 0.68
R4801:Metap2 UTSW 10 93,704,757 (GRCm39) missense probably damaging 1.00
R4802:Metap2 UTSW 10 93,704,757 (GRCm39) missense probably damaging 1.00
R4983:Metap2 UTSW 10 93,725,462 (GRCm39) missense possibly damaging 0.86
R5030:Metap2 UTSW 10 93,715,539 (GRCm39) splice site probably null
R5276:Metap2 UTSW 10 93,704,794 (GRCm39) missense probably benign 0.02
R5276:Metap2 UTSW 10 93,704,784 (GRCm39) missense possibly damaging 0.93
R8191:Metap2 UTSW 10 93,701,267 (GRCm39) critical splice donor site probably null
R8311:Metap2 UTSW 10 93,697,384 (GRCm39) missense possibly damaging 0.71
R9622:Metap2 UTSW 10 93,707,366 (GRCm39) missense probably benign 0.02
Posted On 2014-01-21