Mutagenetix > Incidental Mutation

Incidental Mutation 'R1304:Ece2'

157761

Institutional Source

Beutler Lab

Gene Symbol

Ece2

Ensembl Gene

ENSMUSG00000022842

Gene Name

endothelin converting enzyme 2

Synonyms

9630025D12Rik, 6330509A19Rik, 1810009K13Rik

MMRRC Submission

039370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1304 (G1)

Quality Score

213

Status

Not validated

Chromosome

Chromosomal Location

20448601-20464665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20430532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 53 (E53G)

Ref Sequence

ENSEMBL: ENSMUSP00000113475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000079600] [ENSMUST00000115522] [ENSMUST00000119224] [ENSMUST00000120394] [ENSMUST00000123774] [ENSMUST00000147867] [ENSMUST00000232319] [ENSMUST00000231531] [ENSMUST00000231749] [ENSMUST00000231904] [ENSMUST00000232458] [ENSMUST00000231362] [ENSMUST00000231386] [ENSMUST00000232451] [ENSMUST00000231387] [ENSMUST00000231471]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045918

SMART Domains

Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
Pfam:ALG3	47	406	2.5e-145	PFAM
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000079600
AA Change: E53G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: E53G

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	63	158	8.5e-8	PFAM
transmembrane domain	179	201	N/A	INTRINSIC
Pfam:Peptidase_M13_N	233	618	1.2e-124	PFAM
Pfam:Peptidase_M13	677	880	1.4e-66	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115522
AA Change: E53G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111184
Gene: ENSMUSG00000115219
AA Change: E53G

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_18	58	176	5.9e-11	PFAM
Pfam:Methyltransf_31	58	208	1.5e-10	PFAM
Pfam:Methyltransf_25	62	169	1.4e-7	PFAM
Pfam:Methyltransf_12	63	171	4.5e-9	PFAM
Pfam:Methyltransf_11	63	173	2.8e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119224
AA Change: E53G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113772
Gene: ENSMUSG00000115219
AA Change: E53G

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_18	58	166	1.9e-8	PFAM
Pfam:Methyltransf_25	62	142	1.7e-7	PFAM
Pfam:Methyltransf_11	63	164	5.7e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120394
AA Change: E53G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: E53G

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_18	58	163	1.2e-8	PFAM
Pfam:Methyltransf_11	63	163	1.7e-9	PFAM
transmembrane domain	208	230	N/A	INTRINSIC
Pfam:Peptidase_M13_N	262	647	5e-109	PFAM
Pfam:Peptidase_M13	706	909	9.4e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123774

SMART Domains

Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
transmembrane domain	42	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127454

SMART Domains

Protein: ENSMUSP00000120559
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
Pfam:ALG3	51	118	2.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147867

Predicted Effect

probably benign
Transcript: ENSMUST00000232319

Predicted Effect

probably benign
Transcript: ENSMUST00000231531

Predicted Effect

probably benign
Transcript: ENSMUST00000231749

Predicted Effect

probably benign
Transcript: ENSMUST00000231904

Predicted Effect

probably benign
Transcript: ENSMUST00000232458

Predicted Effect

probably benign
Transcript: ENSMUST00000231362

Predicted Effect

probably benign
Transcript: ENSMUST00000231386

Predicted Effect

probably benign
Transcript: ENSMUST00000232451

Predicted Effect

probably benign
Transcript: ENSMUST00000231387

Predicted Effect

probably benign
Transcript: ENSMUST00000231471

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 90.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M13 family, which includes type 2 integral membrane metallopeptidases. The encoded enzyme is a membrane-bound zinc-dependent metalloprotease. The enzyme catalyzes the cleavage of big endothelin to produce the vasoconstrictor endothelin-1, and plays a role in the processing of several neuroendocrine peptides. It may also have methyltransferase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous mutant mice develop normally, are viable and healthy, and exhibit normal fertility in both sexes, as well as a normal life span. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankmy2	T	G	12: 36,236,804 (GRCm39)	I204S	probably damaging	Het
Cdh12	T	G	15: 21,584,023 (GRCm39)	L621R	probably benign	Het
Dnah9	A	G	11: 65,818,414 (GRCm39)	I3308T	probably damaging	Het
Dync2h1	A	G	9: 7,102,318 (GRCm39)	L454P	probably damaging	Het
Kcp	T	A	6: 29,501,291 (GRCm39)		probably benign	Het
Lyst	C	A	13: 13,926,569 (GRCm39)	Y3458*	probably null	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or12e13	C	T	2: 87,664,049 (GRCm39)	T222I	possibly damaging	Het
Or9g4	T	C	2: 85,504,682 (GRCm39)	D271G	probably damaging	Het
Pde6a	A	G	18: 61,391,364 (GRCm39)	T570A	probably damaging	Het
Plekha1	A	G	7: 130,503,949 (GRCm39)	T219A	probably benign	Het
Prkdc	T	A	16: 15,577,587 (GRCm39)	F2380L	probably damaging	Het
Slc35b4	T	A	6: 34,140,300 (GRCm39)	K151*	probably null	Het
Tmem241	A	G	18: 12,203,135 (GRCm39)		probably null	Het
Zfp607a	C	A	7: 27,565,000 (GRCm39)	R56S	probably benign	Het

Other mutations in Ece2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Ece2	APN	16	20,451,544 (GRCm39)	missense	possibly damaging	0.88
IGL01644:Ece2	APN	16	20,436,616 (GRCm39)	missense	possibly damaging	0.93
IGL02414:Ece2	APN	16	20,459,456 (GRCm39)	missense	probably damaging	1.00
IGL02754:Ece2	APN	16	20,451,398 (GRCm39)	missense	probably damaging	1.00
IGL03368:Ece2	APN	16	20,462,908 (GRCm39)	missense	possibly damaging	0.95
IGL03383:Ece2	APN	16	20,451,847 (GRCm39)	missense	possibly damaging	0.90
R0063:Ece2	UTSW	16	20,461,067 (GRCm39)	missense	probably benign
R0063:Ece2	UTSW	16	20,461,067 (GRCm39)	missense	probably benign
R0750:Ece2	UTSW	16	20,451,800 (GRCm39)	missense	probably benign	0.00
R1500:Ece2	UTSW	16	20,462,992 (GRCm39)	missense	probably damaging	1.00
R1539:Ece2	UTSW	16	20,461,263 (GRCm39)	missense	probably damaging	1.00
R1667:Ece2	UTSW	16	20,456,588 (GRCm39)	missense	possibly damaging	0.78
R1702:Ece2	UTSW	16	20,449,996 (GRCm39)	missense	probably damaging	0.99
R1903:Ece2	UTSW	16	20,463,922 (GRCm39)	missense	probably damaging	0.99
R1937:Ece2	UTSW	16	20,436,616 (GRCm39)	missense	probably damaging	0.99
R2014:Ece2	UTSW	16	20,461,067 (GRCm39)	missense	probably benign
R4393:Ece2	UTSW	16	20,451,598 (GRCm39)	missense	probably damaging	1.00
R4678:Ece2	UTSW	16	20,459,468 (GRCm39)	missense	probably damaging	1.00
R4839:Ece2	UTSW	16	20,449,918 (GRCm39)	missense	probably damaging	1.00
R4857:Ece2	UTSW	16	20,436,556 (GRCm39)	missense	probably damaging	1.00
R4871:Ece2	UTSW	16	20,462,905 (GRCm39)	missense	probably damaging	1.00
R4903:Ece2	UTSW	16	20,449,972 (GRCm39)	nonsense	probably null
R4914:Ece2	UTSW	16	20,462,820 (GRCm39)	missense	probably damaging	1.00
R5119:Ece2	UTSW	16	20,437,381 (GRCm39)	missense	probably damaging	0.98
R5218:Ece2	UTSW	16	20,437,290 (GRCm39)	missense	probably benign	0.06
R5642:Ece2	UTSW	16	20,462,477 (GRCm39)	missense	probably benign	0.42
R5911:Ece2	UTSW	16	20,457,510 (GRCm39)	missense	probably damaging	1.00
R6037:Ece2	UTSW	16	20,449,112 (GRCm39)	missense	probably damaging	1.00
R6037:Ece2	UTSW	16	20,449,112 (GRCm39)	missense	probably damaging	1.00
R6253:Ece2	UTSW	16	20,457,932 (GRCm39)	missense	probably damaging	1.00
R8159:Ece2	UTSW	16	20,430,534 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATTTCTTACCTCGGTGATTGGGC -3'
(R):5'- GTGGTGACTCCCTTTACCTGACAAC -3'

Sequencing Primer
(F):5'- CTCGGTGATTGGGCTCCTTAG -3'
(R):5'- agaaacggaaactgaaacacac -3'

Posted On

2014-02-18