Mutagenetix > Incidental Mutations

Incidental Mutation 'R6037:Ece2'

486652

Institutional Source

Beutler Lab

Gene Symbol

Ece2

Ensembl Gene

ENSMUSG00000022842

Gene Name

endothelin converting enzyme 2

Synonyms

1810009K13Rik, 9630025D12Rik, 6330509A19Rik

MMRRC Submission

043258-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6037 (G1)

Quality Score

217.009

Status

Not validated

Chromosome

Chromosomal Location

20629828-20646485 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20630362 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 17 (Y17C)

Ref Sequence

ENSEMBL: ENSMUSP00000114039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003898] [ENSMUST00000079600] [ENSMUST00000120394] [ENSMUST00000122306] [ENSMUST00000133344]

Predicted Effect

probably damaging
Transcript: ENSMUST00000003898
AA Change: Y17C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842
AA Change: Y17C

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
Pfam:Peptidase_M13_N	115	500	8.3e-125	PFAM
Pfam:Peptidase_M13	559	762	1.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079600

SMART Domains

Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293

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: ENSMUST00000120394
AA Change: Y164C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: Y164C

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 damaging
Transcript: ENSMUST00000122306
AA Change: Y17C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842
AA Change: Y17C

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
Pfam:Peptidase_M13_N	115	500	6.9e-125	PFAM
Pfam:Peptidase_M13	559	709	6e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125971

SMART Domains

Protein: ENSMUSP00000120239
Gene: ENSMUSG00000022842

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M13_N	1	261	1.3e-71	PFAM
Pfam:Peptidase_M13	320	482	3.4e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133344

SMART Domains

Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
Pfam:Peptidase_M13_N	86	471	7.5e-125	PFAM
Pfam:Peptidase_M13	530	733	1e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152246

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Abi2	C	A	1: 60,464,579	P212T	probably damaging	Het
Ano4	A	G	10: 89,317,246	F68S	possibly damaging	Het
Art5	C	A	7: 102,098,384	A63S	probably benign	Het
Asgr1	T	A	11: 70,056,421	S96R	probably benign	Het
Bdp1	A	T	13: 100,027,449	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 136,070,967	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,513,539	K357E	probably damaging	Het
Cfap52	C	T	11: 67,946,300	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,857,742	F249S	probably damaging	Het
Efemp1	C	T	11: 28,921,760	T425I	probably damaging	Het
Eprs	A	G	1: 185,396,109	E562G	probably damaging	Het
Fbn2	T	C	18: 58,044,223	T2001A	probably benign	Het
Flt4	G	A	11: 49,637,040	R940H	probably damaging	Het
Fry	T	A	5: 150,428,179	M1716K	probably benign	Het
Gm10684	T	A	9: 45,107,741		probably benign	Het
Gm281	T	C	14: 13,864,282	N348S	probably damaging	Het
Hivep1	G	A	13: 42,157,940	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Il23r	C	T	6: 67,478,954	V177M	probably damaging	Het
Klf12	T	C	14: 99,900,214	S299G	probably benign	Het
Lama5	G	A	2: 180,207,013	R265C	probably damaging	Het
Lifr	A	G	15: 7,186,943	T800A	probably damaging	Het
Megf8	T	C	7: 25,364,406	L2729P	probably damaging	Het
Mki67	A	C	7: 135,696,803	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,484,004	K400E	probably damaging	Het
Nomo1	T	A	7: 46,062,999	I656N	possibly damaging	Het
Oas3	T	C	5: 120,769,319	T418A	probably benign	Het
Olfr1034	T	C	2: 86,046,584	M34T	probably benign	Het
Olfr1066	T	A	2: 86,455,789	I161L	probably benign	Het
Olfr147	T	A	9: 38,403,305	C144S	probably benign	Het
Olfr301	C	T	7: 86,413,270	L303F	probably benign	Het
Olfr936	A	G	9: 39,047,107	V104A	probably damaging	Het
Olr1	A	G	6: 129,493,541	L221P	probably damaging	Het
Pih1d1	C	T	7: 45,156,314	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,819,766	S656R	probably damaging	Het
Polr3f	A	G	2: 144,536,023	D171G	probably damaging	Het
Rasal1	T	C	5: 120,649,501	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Sptbn4	T	A	7: 27,364,170	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,612,228	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,417,292	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 64,081,729	Q30K	probably benign	Het
Wipf2	C	T	11: 98,896,179	P345S	probably benign	Het
Zeb2	G	T	2: 44,988,640	S1170*	probably null	Het
Zfp947	A	G	17: 22,147,434	Y38H	probably damaging	Het

Other mutations in Ece2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Ece2	APN	16	20632794	missense	possibly damaging	0.88
IGL01644:Ece2	APN	16	20617866	missense	possibly damaging	0.93
IGL02414:Ece2	APN	16	20640706	missense	probably damaging	1.00
IGL02754:Ece2	APN	16	20632648	missense	probably damaging	1.00
IGL03368:Ece2	APN	16	20644158	missense	possibly damaging	0.95
IGL03383:Ece2	APN	16	20633097	missense	possibly damaging	0.90
R0063:Ece2	UTSW	16	20642317	missense	probably benign
R0063:Ece2	UTSW	16	20642317	missense	probably benign
R0750:Ece2	UTSW	16	20633050	missense	probably benign	0.00
R1304:Ece2	UTSW	16	20611782	missense	probably damaging	1.00
R1500:Ece2	UTSW	16	20644242	missense	probably damaging	1.00
R1539:Ece2	UTSW	16	20642513	missense	probably damaging	1.00
R1667:Ece2	UTSW	16	20637838	missense	possibly damaging	0.78
R1702:Ece2	UTSW	16	20631246	missense	probably damaging	0.99
R1903:Ece2	UTSW	16	20645172	missense	probably damaging	0.99
R1937:Ece2	UTSW	16	20617866	missense	probably damaging	0.99
R2014:Ece2	UTSW	16	20642317	missense	probably benign
R4393:Ece2	UTSW	16	20632848	missense	probably damaging	1.00
R4678:Ece2	UTSW	16	20640718	missense	probably damaging	1.00
R4839:Ece2	UTSW	16	20631168	missense	probably damaging	1.00
R4857:Ece2	UTSW	16	20617806	missense	probably damaging	1.00
R4871:Ece2	UTSW	16	20644155	missense	probably damaging	1.00
R4903:Ece2	UTSW	16	20631222	nonsense	probably null
R4914:Ece2	UTSW	16	20644070	missense	probably damaging	1.00
R5119:Ece2	UTSW	16	20618631	missense	probably damaging	0.98
R5218:Ece2	UTSW	16	20618540	missense	probably benign	0.06
R5642:Ece2	UTSW	16	20643727	missense	probably benign	0.42
R5911:Ece2	UTSW	16	20638760	missense	probably damaging	1.00
R6037:Ece2	UTSW	16	20630362	missense	probably damaging	1.00
R6253:Ece2	UTSW	16	20639182	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCAGCAGTGACTGTGATG -3'
(R):5'- AAATGCCTCACTACAGTCCTGG -3'

Sequencing Primer
(F):5'- TGAGTGAACTGGCAGCGTC -3'
(R):5'- ACTACAGTCCTGGCGCAGAG -3'

Posted On

2017-08-16