Mutagenetix > Incidental Mutation

Incidental Mutation 'R4857:Ece2'

374104

Institutional Source

Beutler Lab

Gene Symbol

Ece2

Ensembl Gene

ENSMUSG00000022842

Gene Name

endothelin converting enzyme 2

Synonyms

9630025D12Rik, 6330509A19Rik, 1810009K13Rik

MMRRC Submission

042468-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4857 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20448601-20464665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20436556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 126 (V126D)

Ref Sequence

ENSEMBL: ENSMUSP00000113475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052939] [ENSMUST00000079600] [ENSMUST00000115522] [ENSMUST00000119224] [ENSMUST00000120394]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052939

SMART Domains

Protein: ENSMUSP00000057368
Gene: ENSMUSG00000051146

Domain	Start	End	E-Value	Type
Pfam:CaM-KIIN	1	79	1.6e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079600
AA Change: V126D

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

SMART Domains

Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: V126D

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: V126D

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

SMART Domains

Protein: ENSMUSP00000111184
Gene: ENSMUSG00000115219
AA Change: V126D

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: V126D

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

SMART Domains

Protein: ENSMUSP00000113772
Gene: ENSMUSG00000115219
AA Change: V126D

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: V126D

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

SMART Domains

Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: V126D

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

possibly damaging
Transcript: ENSMUST00000147849
AA Change: V69D

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121231
Gene: ENSMUSG00000022842
AA Change: V69D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.3%

Validation Efficiency

97% (115/119)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	C	T	15: 46,488,927 (GRCm39)		noncoding transcript	Het
Aasdh	A	T	5: 77,035,131 (GRCm39)	F428L	probably benign	Het
Abca13	A	G	11: 9,244,143 (GRCm39)	N2002S	probably benign	Het
Acot7	T	G	4: 152,322,211 (GRCm39)	F248V	possibly damaging	Het
Acsf2	A	G	11: 94,460,164 (GRCm39)	I396T	probably benign	Het
Agbl1	A	G	7: 76,069,583 (GRCm39)	N372D	probably benign	Het
Ahctf1	A	T	1: 179,626,922 (GRCm39)		probably benign	Het
Akap11	T	C	14: 78,736,300 (GRCm39)	D1830G		Het
Bcl7b	A	G	5: 135,202,033 (GRCm39)	*59W	probably null	Het
Bdh1	A	G	16: 31,266,366 (GRCm39)		probably null	Het
Bin3	A	G	14: 70,366,344 (GRCm39)	N69S	probably benign	Het
Bltp3b	A	T	10: 89,615,825 (GRCm39)	N156I	probably damaging	Het
Bsdc1	T	C	4: 129,365,685 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,253,863 (GRCm39)	V700A	probably damaging	Het
Calcr	T	C	6: 3,708,511 (GRCm39)	N225S	probably benign	Het
Cby2	C	T	14: 75,830,478 (GRCm39)	E8K	probably damaging	Het
Cdh23	A	G	10: 60,227,563 (GRCm39)	S1173P	probably damaging	Het
Cftr	C	T	6: 18,320,974 (GRCm39)	T1428M	possibly damaging	Het
Chd1l	T	C	3: 97,479,975 (GRCm39)	K591E	probably benign	Het
Chrd	C	T	16: 20,557,508 (GRCm39)	P709L	possibly damaging	Het
Ckap4	T	C	10: 84,369,352 (GRCm39)	R127G	possibly damaging	Het
Cnbd2	T	C	2: 156,209,485 (GRCm39)	F476S	probably benign	Het
Dclk3	T	C	9: 111,297,716 (GRCm39)	V420A	probably benign	Het
Dnah5	A	G	15: 28,345,953 (GRCm39)	D2431G	probably benign	Het
Duox1	T	A	2: 122,146,212 (GRCm39)	I10N	probably benign	Het
Elfn1	T	C	5: 139,958,840 (GRCm39)	Y615H	probably damaging	Het
Epha1	T	C	6: 42,338,416 (GRCm39)	D720G	probably benign	Het
Fras1	A	G	5: 96,926,018 (GRCm39)	I3741V	probably benign	Het
Gm53	A	T	11: 96,142,562 (GRCm39)		noncoding transcript	Het
Grb10	G	T	11: 11,901,469 (GRCm39)		probably benign	Het
Grid2ip	A	G	5: 143,368,384 (GRCm39)	H568R	probably damaging	Het
Gsap	A	T	5: 21,492,797 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,299,496 (GRCm39)		probably benign	Het
Gstm1	T	C	3: 107,923,724 (GRCm39)	R94G	possibly damaging	Het
Gtf2ird1	A	G	5: 134,391,398 (GRCm39)	F866L	probably damaging	Het
Haao	T	A	17: 84,146,009 (GRCm39)		probably null	Het
Hcn4	A	T	9: 58,766,853 (GRCm39)	I805F	unknown	Het
Hemk1	A	T	9: 107,206,647 (GRCm39)		probably benign	Het
Il12rb1	A	T	8: 71,263,232 (GRCm39)	Y33F	possibly damaging	Het
Il19	T	A	1: 130,863,683 (GRCm39)	I103F	probably damaging	Het
Itpr1	A	G	6: 108,387,828 (GRCm39)	N1522S	probably benign	Het
Klhdc8a	A	G	1: 132,230,843 (GRCm39)	Y236C	probably damaging	Het
Klhl3	C	T	13: 58,166,620 (GRCm39)	G404S	probably damaging	Het
Large2	T	C	2: 92,196,979 (GRCm39)		probably benign	Het
Lgi1	C	A	19: 38,294,698 (GRCm39)	A490E	probably damaging	Het
Lmbr1	A	G	5: 29,528,807 (GRCm39)	L112P	probably damaging	Het
Lmo7	T	A	14: 102,124,784 (GRCm39)		probably null	Het
Lpin1	A	C	12: 16,613,631 (GRCm39)	I479S	possibly damaging	Het
Lrrc40	T	A	3: 157,771,866 (GRCm39)		probably benign	Het
Lrrc9	A	G	12: 72,546,466 (GRCm39)	N1218S	possibly damaging	Het
Map3k9	A	G	12: 81,771,401 (GRCm39)	V729A	probably benign	Het
Marf1	A	T	16: 13,946,475 (GRCm39)	Y1215*	probably null	Het
Moap1	T	A	12: 102,708,824 (GRCm39)	I242L	probably benign	Het
Mpo	A	G	11: 87,687,107 (GRCm39)	K218E	probably benign	Het
Mpz	C	T	1: 170,986,379 (GRCm39)	R98C	probably damaging	Het
Neb	T	G	2: 52,091,992 (GRCm39)	K5024T	probably damaging	Het
Nlrp4b	C	T	7: 10,449,225 (GRCm39)	T109I	probably benign	Het
Noc3l	T	A	19: 38,781,244 (GRCm39)		probably null	Het
Nosip	G	A	7: 44,726,102 (GRCm39)	V220I	probably benign	Het
Nyap1	A	C	5: 137,733,840 (GRCm39)	S398A	probably damaging	Het
Or12d17	A	G	17: 37,777,714 (GRCm39)	M206V	possibly damaging	Het
Or4a68	T	G	2: 89,269,967 (GRCm39)	I219L	probably damaging	Het
Or4f54	A	G	2: 111,123,488 (GRCm39)	N292D	possibly damaging	Het
Osbpl7	T	C	11: 96,947,495 (GRCm39)		probably benign	Het
Pard3	A	T	8: 128,050,535 (GRCm39)	Y199F	probably damaging	Het
Pcdha11	G	A	18: 37,144,505 (GRCm39)	V199I	probably benign	Het
Pcdhga8	A	T	18: 37,859,967 (GRCm39)	N341I	probably damaging	Het
Pcsk4	A	G	10: 80,160,873 (GRCm39)	S318P	probably damaging	Het
Phldb1	C	A	9: 44,607,389 (GRCm39)	R1272L	probably damaging	Het
Phlpp2	A	G	8: 110,603,642 (GRCm39)	T103A	probably damaging	Het
Pibf1	T	A	14: 99,423,937 (GRCm39)	Y503*	probably null	Het
Pkn1	A	T	8: 84,410,856 (GRCm39)		probably null	Het
Pramel22	A	T	4: 143,383,158 (GRCm39)	N20K	possibly damaging	Het
Ptprf	A	G	4: 118,074,394 (GRCm39)		probably benign	Het
Rbm19	C	A	5: 120,270,898 (GRCm39)		probably benign	Het
Rcan1	T	C	16: 92,262,794 (GRCm39)	D5G	possibly damaging	Het
Recql5	A	T	11: 115,819,038 (GRCm39)	L176Q	probably damaging	Het
Rev3l	T	A	10: 39,714,455 (GRCm39)	L2393Q	probably damaging	Het
Rp1	C	A	1: 4,422,539 (GRCm39)	K180N	probably damaging	Het
Rp1	T	A	1: 4,422,540 (GRCm39)	K180M	probably damaging	Het
Sdk1	T	C	5: 142,147,531 (GRCm39)	V1461A	probably benign	Het
Sdk2	A	T	11: 113,712,208 (GRCm39)	L1653*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint10	A	T	4: 112,603,830 (GRCm39)	V119D	possibly damaging	Het
Sncaip	T	C	18: 53,002,297 (GRCm39)	S273P	probably benign	Het
Sp1	T	G	15: 102,339,409 (GRCm39)	I449S	probably damaging	Het
Spata31h1	T	C	10: 82,119,682 (GRCm39)	T4443A	possibly damaging	Het
Spats2	T	C	15: 99,072,301 (GRCm39)	L78P	probably damaging	Het
Stambp	T	A	6: 83,533,348 (GRCm39)	N305I	probably benign	Het
Stim2	A	T	5: 54,275,888 (GRCm39)	S688C	probably damaging	Het
Sytl3	A	G	17: 7,003,980 (GRCm39)	N355S	probably damaging	Het
Taf4b	C	T	18: 14,937,635 (GRCm39)	A236V	probably null	Het
Tnfaip6	A	G	2: 51,941,086 (GRCm39)		probably null	Het
Trpc2	T	A	7: 101,733,176 (GRCm39)	S416T	probably benign	Het
Ttn	T	C	2: 76,569,210 (GRCm39)	T27228A	probably damaging	Het
Ush2a	T	A	1: 188,269,917 (GRCm39)	D1721E	probably benign	Het
Usp47	T	A	7: 111,681,759 (GRCm39)	H523Q	probably damaging	Het
Vmn1r8	A	T	6: 57,013,338 (GRCm39)	I130F	probably benign	Het
Vps13b	A	G	15: 35,456,800 (GRCm39)	S749G	probably benign	Het
Xrcc5	C	A	1: 72,365,424 (GRCm39)	T283K	possibly damaging	Het
Ydjc	A	G	16: 16,966,002 (GRCm39)		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
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'- ATCCTACCCATGGCAGGTTG -3'
(R):5'- AGAACCTGCTCCAAACCTCATTTTC -3'

Sequencing Primer
(F):5'- TGCGGGAACAGTGCCTTG -3'
(R):5'- CTGAATTTGTCCAATGTCTGAGAG -3'

Posted On

2016-03-01