Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02553:Metap2'

298568

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 #

IGL02553

Quality Score

Status

Chromosome

Chromosomal Location

93694351-93732952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93701311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 165 (M165V)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047910] [ENSMUST00000180688] [ENSMUST00000180840] [ENSMUST00000181091] [ENSMUST00000181470] [ENSMUST00000181217]

AlphaFold

O08663

Predicted Effect

probably benign
Transcript: ENSMUST00000047910
AA Change: M308V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000048285
Gene: ENSMUSG00000036112
AA Change: M308V

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 benign
Transcript: ENSMUST00000180375

Predicted Effect

probably damaging
Transcript: ENSMUST00000180392
AA Change: M165V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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 benign
Transcript: ENSMUST00000180840
AA Change: M308V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138006
Gene: ENSMUSG00000036112
AA Change: M308V

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

noncoding transcript
Transcript: ENSMUST00000181009

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181091
AA Change: M285V

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137904
Gene: ENSMUSG00000036112
AA Change: M285V

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

possibly damaging
Transcript: ENSMUST00000181470
AA Change: M19V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138050
Gene: ENSMUSG00000036112
AA Change: M19V

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M24	1	97	6.6e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181217
AA Change: M318V

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138083
Gene: ENSMUSG00000036112
AA Change: M318V

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: ENSMUST00000181894

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,242,750 (GRCm39)	S1326P	probably damaging	Het
Alpk1	A	T	3: 127,466,970 (GRCm39)	L1103Q	probably damaging	Het
Arhgap11a	A	C	2: 113,667,906 (GRCm39)		probably benign	Het
Arl6ip6	A	G	2: 53,082,226 (GRCm39)	Y31C	possibly damaging	Het
Arpin	G	T	7: 79,577,395 (GRCm39)	D217E	possibly damaging	Het
Atp13a4	C	T	16: 29,241,521 (GRCm39)	V735I	probably benign	Het
Ccdc146	A	T	5: 21,502,631 (GRCm39)	F753L	probably benign	Het
Cdh3	T	A	8: 107,270,880 (GRCm39)	L511*	probably null	Het
Chrna1	A	T	2: 73,397,206 (GRCm39)	I361N	possibly damaging	Het
Clk2	G	A	3: 89,083,020 (GRCm39)	R432H	probably damaging	Het
Col9a1	T	C	1: 24,261,018 (GRCm39)		probably benign	Het
Cstf1	G	T	2: 172,219,774 (GRCm39)	R295L	probably benign	Het
Dsg2	A	G	18: 20,725,467 (GRCm39)	D526G	probably damaging	Het
Dsg4	T	A	18: 20,595,577 (GRCm39)	H593Q	probably benign	Het
Dysf	T	C	6: 84,107,109 (GRCm39)	Y1171H	possibly damaging	Het
Erbb4	A	G	1: 68,345,023 (GRCm39)	L566P	probably benign	Het
Fam185a	T	A	5: 21,660,829 (GRCm39)	D281E	probably damaging	Het
Fam185a	T	A	5: 21,634,839 (GRCm39)		probably benign	Het
Fam91a1	T	A	15: 58,304,831 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,202,109 (GRCm39)	W322R	probably damaging	Het
Fbxw8	T	A	5: 118,204,125 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,288,615 (GRCm39)	T874A	probably benign	Het
Gm3543	T	C	14: 41,802,048 (GRCm39)	I145M	probably benign	Het
Gtf2i	G	A	5: 134,274,015 (GRCm39)	T712I	probably damaging	Het
Hk1	A	G	10: 62,131,552 (GRCm39)	S268P	possibly damaging	Het
Hmcn1	A	G	1: 150,868,774 (GRCm39)	V10A	probably benign	Het
Hsd17b4	C	T	18: 50,295,164 (GRCm39)		probably benign	Het
Ighv1-75	A	T	12: 115,797,725 (GRCm39)	W66R	probably damaging	Het
Kif21b	G	T	1: 136,081,859 (GRCm39)	D636Y	probably damaging	Het
Kif5b	A	T	18: 6,220,914 (GRCm39)	I398N	probably benign	Het
Mterf2	A	C	10: 84,956,331 (GRCm39)	L98V	probably damaging	Het
Muc16	A	G	9: 18,409,849 (GRCm39)		probably null	Het
Myo3b	A	G	2: 69,925,568 (GRCm39)	M12V	probably benign	Het
Nat10	C	A	2: 103,583,013 (GRCm39)	R136I	probably damaging	Het
Nsd2	T	G	5: 34,003,542 (GRCm39)	S231A	probably damaging	Het
Or4a71	T	C	2: 89,358,275 (GRCm39)	T160A	probably benign	Het
Or4k37	A	T	2: 111,159,333 (GRCm39)	M190L	probably benign	Het
Pcdhb14	T	A	18: 37,581,071 (GRCm39)	L59*	probably null	Het
Pias4	A	G	10: 80,999,621 (GRCm39)	L144P	probably damaging	Het
Plxna2	T	A	1: 194,433,746 (GRCm39)	N598K	probably benign	Het
Polq	A	G	16: 36,862,130 (GRCm39)	Y550C	probably damaging	Het
Pot1b	T	A	17: 56,002,024 (GRCm39)		probably benign	Het
Proz	T	C	8: 13,115,260 (GRCm39)	V92A	probably benign	Het
Rab4a	T	C	8: 124,550,561 (GRCm39)	F14L	probably benign	Het
Riok3	T	A	18: 12,276,073 (GRCm39)	C256*	probably null	Het
Slc6a1	T	A	6: 114,279,451 (GRCm39)		probably benign	Het
Socs5	C	T	17: 87,442,419 (GRCm39)	T453M	probably damaging	Het
Spata3	T	C	1: 85,952,211 (GRCm39)	L135P	probably damaging	Het
Spata46	A	G	1: 170,139,534 (GRCm39)	K178E	probably damaging	Het
Spr	T	C	6: 85,114,430 (GRCm39)	N100D	probably damaging	Het
Srrm4	C	T	5: 116,582,624 (GRCm39)		probably benign	Het
Stard3	T	C	11: 98,267,389 (GRCm39)	F169S	possibly damaging	Het
Tbx1	T	A	16: 18,402,847 (GRCm39)	D222V	probably damaging	Het
Trbv23	C	T	6: 41,193,279 (GRCm39)	Q56*	probably null	Het
Tsc22d1	A	G	14: 76,654,838 (GRCm39)	N357S	possibly damaging	Het
Ugt1a6a	C	T	1: 88,066,811 (GRCm39)	P206S	probably benign	Het
Utp20	A	G	10: 88,600,657 (GRCm39)	V19A	probably damaging	Het
Vps13b	A	G	15: 35,646,447 (GRCm39)	N1517S	probably benign	Het
Washc2	T	C	6: 116,218,571 (GRCm39)	I672T	probably damaging	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
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

2015-04-16