Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Ece2'

500089

Institutional Source

Beutler Lab

Gene Symbol

Ece2

Ensembl Gene

ENSMUSG00000022842

Gene Name

endothelin converting enzyme 2

Synonyms

9630025D12Rik, 6330509A19Rik, 1810009K13Rik

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4914 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20448601-20464665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20462820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 582 (R582C)

Ref Sequence

ENSEMBL: ENSMUSP00000119693 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000003898
AA Change: R611C

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

SMART Domains

Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842
AA Change: R611C

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 damaging
Transcript: ENSMUST00000079600
AA Change: R729C

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

SMART Domains

Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: R729C

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: R758C

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

SMART Domains

Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: R758C

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: R611C

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

SMART Domains

Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842
AA Change: R611C

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

unknown
Transcript: ENSMUST00000125971
AA Change: R371C

SMART Domains

Protein: ENSMUSP00000120239
Gene: ENSMUSG00000022842
AA Change: R371C

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 damaging
Transcript: ENSMUST00000133344
AA Change: R582C

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

SMART Domains

Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842
AA Change: R582C

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

SMART Domains

Protein: ENSMUSP00000121231
Gene: ENSMUSG00000022842
AA Change: R672C

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_18	2	105	1.1e-8	PFAM
Pfam:Methyltransf_11	7	103	1.7e-9	PFAM
transmembrane domain	123	145	N/A	INTRINSIC
Pfam:Peptidase_M13_N	177	562	4e-109	PFAM
Pfam:Peptidase_M13	621	824	8e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231739

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,870,423 (GRCm39)	V281M	probably damaging	Het
Ap1b1	C	T	11: 4,974,400 (GRCm39)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arhgef1	T	A	7: 24,623,264 (GRCm39)	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,887,159 (GRCm39)	D276E	probably damaging	Het
AU040320	A	T	4: 126,729,469 (GRCm39)	K544*	probably null	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,192,844 (GRCm39)	V1330A	probably benign	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cabs1	T	C	5: 88,128,296 (GRCm39)	Y316H	probably damaging	Het
Carmil2	A	G	8: 106,420,175 (GRCm39)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,036,083 (GRCm39)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cemip2	G	A	19: 21,786,653 (GRCm39)	V472I	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnai3	A	G	3: 145,772,582 (GRCm39)	I488T	probably damaging	Het
Dpp4	A	T	2: 62,178,236 (GRCm39)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 21,990,197 (GRCm39)	T192M	possibly damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Emc1	C	T	4: 139,102,476 (GRCm39)	R924*	probably null	Het
Etaa1	A	T	11: 17,896,532 (GRCm39)	S528R	probably benign	Het
Exoc2	A	T	13: 31,060,796 (GRCm39)	N569K	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,267,245 (GRCm39)	V329I	probably benign	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,748,760 (GRCm39)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,581,513 (GRCm39)	T189A	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,967,672 (GRCm39)	Y482*	probably null	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gper1	A	G	5: 139,412,623 (GRCm39)	I323V	probably benign	Het
Grm5	C	A	7: 87,779,337 (GRCm39)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,369,503 (GRCm39)	T85A	probably benign	Het
Hgsnat	A	G	8: 26,454,866 (GRCm39)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,787,884 (GRCm39)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,054,750 (GRCm39)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,599,681 (GRCm39)	E471G	probably damaging	Het
Lalba	T	A	15: 98,380,061 (GRCm39)	N63I	probably benign	Het
Mcoln1	T	A	8: 3,557,483 (GRCm39)	L163*	probably null	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mpzl2	T	A	9: 44,955,146 (GRCm39)	D114E	probably benign	Het
Myef2	T	A	2: 124,951,659 (GRCm39)	K259*	probably null	Het
Myh8	C	A	11: 67,183,510 (GRCm39)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,863,367 (GRCm39)		probably null	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or2h2	T	C	17: 37,396,883 (GRCm39)	Y58C	probably damaging	Het
Or2w1b	A	T	13: 21,300,567 (GRCm39)	Q235L	probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Orc1	T	C	4: 108,461,755 (GRCm39)	F584S	probably damaging	Het
Osgin1	C	A	8: 120,169,283 (GRCm39)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,622,644 (GRCm39)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,287,439 (GRCm39)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,446,265 (GRCm39)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,327,395 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,163,425 (GRCm39)	S1082G	probably benign	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,487,248 (GRCm39)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,877,613 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slain2	T	A	5: 73,115,609 (GRCm39)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,018,395 (GRCm39)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Smg8	T	C	11: 86,971,536 (GRCm39)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,196,321 (GRCm39)	I322L	probably benign	Het
Snx13	G	A	12: 35,182,032 (GRCm39)	V694I	possibly damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Srprb	C	A	9: 103,079,147 (GRCm39)	V747L	possibly damaging	Het
Stam	A	G	2: 14,107,227 (GRCm39)	E16G	probably damaging	Het
Taar5	A	T	10: 23,847,468 (GRCm39)	I289F	possibly damaging	Het
Tgif1	C	T	17: 71,152,242 (GRCm39)	R70H	probably damaging	Het
Top2a	A	T	11: 98,893,786 (GRCm39)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,303,283 (GRCm39)	I232F	probably damaging	Het
Ttn	T	C	2: 76,577,175 (GRCm39)	T24573A	probably damaging	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ube2n	T	A	10: 95,377,607 (GRCm39)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,106,357 (GRCm39)	K445M	probably null	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Zfp1007	A	G	5: 109,826,396 (GRCm39)	S59P	probably damaging	Het
Zfp157	T	C	5: 138,454,557 (GRCm39)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,275,567 (GRCm39)	C228*	probably null	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	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
R1304:Ece2	UTSW	16	20,430,532 (GRCm39)	missense	probably damaging	1.00
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
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'- GTTGACACATGCCTTTGATGACC -3'
(R):5'- AAGGACCCTTCGACACAGTC -3'

Sequencing Primer
(F):5'- CACATGCCTTTGATGACCAAGGTAG -3'
(R):5'- CTCACATTGTAAGCAGCCTTAAGG -3'

Posted On

2017-11-30