Incidental Mutation 'R0212:Metap2'
ID 33552
Institutional Source Beutler Lab
Gene Symbol Metap2
Ensembl Gene ENSMUSG00000036112
Gene Name methionine aminopeptidase 2
Synonyms eIF-2-associated p67, 4930584B20Rik, A930035J23Rik, p67
MMRRC Submission 038463-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0212 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 93694351-93732952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93697242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 479 (K479N)
Ref Sequence ENSEMBL: ENSMUSP00000138083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047910] [ENSMUST00000180840] [ENSMUST00000181091] [ENSMUST00000181217] [ENSMUST00000181470] [ENSMUST00000216224]
AlphaFold O08663
Predicted Effect probably damaging
Transcript: ENSMUST00000047910
AA Change: K469N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048285
Gene: ENSMUSG00000036112
AA Change: K469N

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: ENSMUST00000180392
Predicted Effect probably damaging
Transcript: ENSMUST00000180840
AA Change: K469N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138006
Gene: ENSMUSG00000036112
AA Change: K469N

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 noncoding transcript
Transcript: ENSMUST00000181009
Predicted Effect probably damaging
Transcript: ENSMUST00000181091
AA Change: K446N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137904
Gene: ENSMUSG00000036112
AA Change: K446N

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 damaging
Transcript: ENSMUST00000181217
AA Change: K479N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138083
Gene: ENSMUSG00000036112
AA Change: K479N

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 probably benign
Transcript: ENSMUST00000181470
SMART Domains Protein: ENSMUSP00000138050
Gene: ENSMUSG00000036112

DomainStartEndE-ValueType
Pfam:Peptidase_M24 1 97 6.6e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181894
Predicted Effect probably benign
Transcript: ENSMUST00000216224
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 36,006,254 (GRCm39) probably null Het
Adat1 T A 8: 112,713,840 (GRCm39) D113V possibly damaging Het
Arhgap40 T G 2: 158,392,495 (GRCm39) L656V probably damaging Het
Atg2a T C 19: 6,296,584 (GRCm39) I330T probably damaging Het
Cad A G 5: 31,235,454 (GRCm39) D2137G probably damaging Het
Cd8a G A 6: 71,350,633 (GRCm39) E33K probably benign Het
Cemip C A 7: 83,622,398 (GRCm39) G594C probably damaging Het
Chd6 T A 2: 160,894,767 (GRCm39) D31V probably damaging Het
Cmpk1 A T 4: 114,822,216 (GRCm39) M111K possibly damaging Het
Crispld2 T G 8: 120,737,370 (GRCm39) H40Q probably benign Het
Depdc5 A G 5: 33,069,586 (GRCm39) T441A probably benign Het
Dpm1 T C 2: 168,069,414 (GRCm39) N5S probably benign Het
Ercc4 A G 16: 12,941,196 (GRCm39) probably null Het
Fam83f A T 15: 80,574,779 (GRCm39) M229L probably benign Het
Fgd5 A T 6: 91,965,189 (GRCm39) D474V probably damaging Het
Fgf21 G T 7: 45,263,526 (GRCm39) P184Q probably benign Het
Fry A T 5: 150,419,862 (GRCm39) D1008V probably damaging Het
Gjd2 T C 2: 113,841,953 (GRCm39) T175A probably benign Het
Gphn C T 12: 78,684,326 (GRCm39) T577I probably damaging Het
Ifi207 A T 1: 173,563,964 (GRCm39) N18K possibly damaging Het
Ifne T C 4: 88,797,972 (GRCm39) R149G possibly damaging Het
Ift80 A T 3: 68,847,506 (GRCm39) L330H probably benign Het
Inpp4b A T 8: 82,497,546 (GRCm39) H122L probably benign Het
Inpp5e T C 2: 26,298,352 (GRCm39) probably null Het
Ism1 T C 2: 139,582,177 (GRCm39) L163S probably benign Het
Itga11 T A 9: 62,653,251 (GRCm39) V375E probably benign Het
Itpr3 T G 17: 27,308,293 (GRCm39) F306V probably damaging Het
Kif19a A T 11: 114,675,736 (GRCm39) I403F possibly damaging Het
Klf12 A T 14: 100,260,298 (GRCm39) S144T probably benign Het
Lyst C T 13: 13,810,570 (GRCm39) H747Y possibly damaging Het
Mccc2 A G 13: 100,091,163 (GRCm39) Y445H probably benign Het
Mei1 G A 15: 81,980,132 (GRCm39) probably null Het
Mief2 A T 11: 60,621,493 (GRCm39) D62V probably damaging Het
Mtrf1 A G 14: 79,656,719 (GRCm39) D407G probably benign Het
Myo3a A G 2: 22,296,659 (GRCm39) R210G probably damaging Het
Nkx2-2 T C 2: 147,026,090 (GRCm39) H216R probably damaging Het
Nos1 A G 5: 118,048,277 (GRCm39) E694G possibly damaging Het
Nptn A T 9: 58,535,164 (GRCm39) Y103F probably benign Het
Nrxn1 A G 17: 90,670,186 (GRCm39) probably benign Het
Numbl T C 7: 26,980,184 (GRCm39) S389P probably damaging Het
Or10d5 A G 9: 39,861,236 (GRCm39) V277A probably benign Het
Or1q1 T A 2: 36,887,644 (GRCm39) V274E possibly damaging Het
Or1q1 A T 2: 36,887,335 (GRCm39) D171V probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5d16 A G 2: 87,773,435 (GRCm39) F179S probably damaging Het
Or5i1 C T 2: 87,613,826 (GRCm39) P314L unknown Het
Or8g20 C A 9: 39,396,384 (GRCm39) S55I probably damaging Het
Osm T G 11: 4,188,465 (GRCm39) S31A probably benign Het
Paqr4 T C 17: 23,957,294 (GRCm39) M70V probably benign Het
Pikfyve T A 1: 65,302,064 (GRCm39) Y1607N probably benign Het
Plec A C 15: 76,075,505 (GRCm39) Y402* probably null Het
Polq A G 16: 36,887,216 (GRCm39) K1631E probably damaging Het
Pou6f1 A G 15: 100,478,696 (GRCm39) V129A possibly damaging Het
Prm2 A G 16: 10,609,463 (GRCm39) probably benign Het
Prtn3 A G 10: 79,716,971 (GRCm39) Y112C probably damaging Het
Qrfp T A 2: 31,698,797 (GRCm39) H45L probably benign Het
Rps6ka5 A T 12: 100,519,428 (GRCm39) probably null Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Slc10a1 A C 12: 81,014,486 (GRCm39) L78R possibly damaging Het
Slc26a5 A T 5: 22,028,547 (GRCm39) Y340* probably null Het
Sptbn2 T C 19: 4,796,970 (GRCm39) probably null Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
Tmem131l A T 3: 83,820,575 (GRCm39) S1226T probably benign Het
Togaram2 C T 17: 72,031,978 (GRCm39) L866F probably damaging Het
Txndc17 A G 11: 72,098,558 (GRCm39) T37A probably benign Het
Vmn2r105 C A 17: 20,428,827 (GRCm39) V750F possibly damaging Het
Vmn2r54 T A 7: 12,366,424 (GRCm39) Y170F probably benign Het
Wrnip1 T C 13: 33,005,889 (GRCm39) V577A probably benign Het
Zc3h7b A G 15: 81,660,529 (GRCm39) T226A probably benign Het
Zfp948 T C 17: 21,808,422 (GRCm39) I538T probably benign Het
Zzef1 A G 11: 72,764,736 (GRCm39) E1401G possibly damaging Het
Other mutations in Metap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01671:Metap2 APN 10 93,707,340 (GRCm39) splice site probably benign
IGL02553:Metap2 APN 10 93,701,311 (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
Predicted Primers PCR Primer
(F):5'- GAGCAGTACAGCATTTCCTAGACGG -3'
(R):5'- ACTCCAGGTGCAGACACAGCTTAG -3'

Sequencing Primer
(F):5'- AAGTCTTGAAAGCCTTTTCCTTGG -3'
(R):5'- aaatctgcctgcctctgtc -3'
Posted On 2013-05-09