Incidental Mutation 'R3811:Metap2'
| ID |
275201 |
| 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 |
040767-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3811 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93694351-93732952 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 93706026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 252
(L252*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047910]
[ENSMUST00000180688]
[ENSMUST00000180840]
[ENSMUST00000181091]
[ENSMUST00000181217]
[ENSMUST00000181470]
|
| AlphaFold |
O08663 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047910
AA Change: L242*
|
| SMART Domains |
Protein: ENSMUSP00000048285
Gene: ENSMUSG00000036112
AA Change: L242*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000180375
AA Change: L215*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180392
AA Change: L99*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180688
|
| SMART Domains |
Protein: ENSMUSP00000137652
Gene: ENSMUSG00000036112
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000180840
AA Change: L242*
|
| SMART Domains |
Protein: ENSMUSP00000138006
Gene: ENSMUSG00000036112
AA Change: L242*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000181091
AA Change: L219*
|
| SMART Domains |
Protein: ENSMUSP00000137904
Gene: ENSMUSG00000036112
AA Change: L219*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000181217
AA Change: L252*
|
| SMART Domains |
Protein: ENSMUSP00000138083
Gene: ENSMUSG00000036112
AA Change: L252*
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000181470
|
| SMART Domains |
Protein: ENSMUSP00000138050
Gene: ENSMUSG00000036112
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M24
|
1 |
97 |
6.6e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216232
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (36/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 68,203,088 (GRCm39) |
P122S |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Cacybp |
T |
C |
1: 160,031,222 (GRCm39) |
D202G |
probably benign |
Het |
| Chsy3 |
C |
G |
18: 59,309,242 (GRCm39) |
P165R |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,565,501 (GRCm39) |
Q227* |
probably null |
Het |
| Crnkl1 |
C |
A |
2: 145,773,226 (GRCm39) |
R140L |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,488,849 (GRCm39) |
E39G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,168,481 (GRCm39) |
T481A |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,829,123 (GRCm39) |
I1003N |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
| Glrx5 |
C |
G |
12: 104,999,147 (GRCm39) |
C63W |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,525,328 (GRCm39) |
|
probably null |
Het |
| Ighv1-24 |
G |
T |
12: 114,736,685 (GRCm39) |
L72I |
probably benign |
Het |
| Ilvbl |
G |
A |
10: 78,414,869 (GRCm39) |
C244Y |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,182,441 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,138,454 (GRCm39) |
|
probably null |
Het |
| Mall |
T |
A |
2: 127,550,774 (GRCm39) |
I129F |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,693,506 (GRCm39) |
K1044* |
probably null |
Het |
| Med23 |
A |
T |
10: 24,768,490 (GRCm39) |
R77* |
probably null |
Het |
| Med23 |
G |
A |
10: 24,768,491 (GRCm39) |
|
probably null |
Het |
| Or8k28 |
A |
T |
2: 86,285,691 (GRCm39) |
V308E |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
G |
T |
2: 158,456,656 (GRCm39) |
C437F |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,707,990 (GRCm39) |
E325G |
possibly damaging |
Het |
| Steap4 |
A |
G |
5: 8,027,017 (GRCm39) |
T327A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,848,011 (GRCm39) |
D70G |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
|
| Other mutations in Metap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- GTACAGCTTTAGAGAAGGAGCC -3'
(R):5'- ATGAGCTCCGCATTCAGAAAG -3'
Sequencing Primer
(F):5'- CAGCTTTAGAGAAGGAGCCAAGAAC -3'
(R):5'- TGAGCTCCGCATTCAGAAAGTACTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation