Mutagenetix > Incidental Mutation

Incidental Mutation 'R4839:Ece2'

371668

Institutional Source

Beutler Lab

Gene Symbol

Ece2

Ensembl Gene

ENSMUSG00000022842

Gene Name

endothelin converting enzyme 2

Synonyms

9630025D12Rik, 6330509A19Rik, 1810009K13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4839 (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 20449918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 257 (R257C)

Ref Sequence

ENSEMBL: ENSMUSP00000113475 (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: R110C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842
AA Change: R110C

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: R228C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: R228C

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: R257C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: R257C

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: R110C

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

SMART Domains

Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842
AA Change: R110C

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 damaging
Transcript: ENSMUST00000133344
AA Change: R81C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842
AA Change: R81C

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121231
Gene: ENSMUSG00000022842
AA Change: R171C

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,845 (GRCm39)	S467T	probably benign	Het
2310030G06Rik	A	T	9: 50,652,023 (GRCm39)	Y68*	probably null	Het
Abat	T	G	16: 8,401,512 (GRCm39)		probably benign	Het
Abca2	C	T	2: 25,330,921 (GRCm39)	S1203F	probably damaging	Het
Adam22	G	A	5: 8,186,813 (GRCm39)	P436L	probably damaging	Het
Ak3	A	C	19: 29,025,132 (GRCm39)	L33R	probably damaging	Het
Arhgap11a	A	T	2: 113,672,374 (GRCm39)	I198K	probably damaging	Het
Arl14epl	A	T	18: 47,065,544 (GRCm39)	K103M	possibly damaging	Het
Atg16l1	T	A	1: 87,693,896 (GRCm39)	N65K	probably damaging	Het
Btnl2	G	A	17: 34,584,260 (GRCm39)	W394*	probably null	Het
Cacna1e	C	A	1: 154,296,804 (GRCm39)	R1687L	probably damaging	Het
Cacna1g	G	T	11: 94,350,433 (GRCm39)	R471S	probably benign	Het
Cdh13	A	T	8: 119,578,587 (GRCm39)	R205*	probably null	Het
Cdkl3	A	T	11: 51,895,861 (GRCm39)	Y36F	probably damaging	Het
Cep290	T	A	10: 100,344,648 (GRCm39)	N488K	probably damaging	Het
Cep350	A	T	1: 155,804,240 (GRCm39)	C948S	probably benign	Het
Cep70	A	G	9: 99,178,138 (GRCm39)	K446R	probably benign	Het
Cfap70	T	C	14: 20,475,597 (GRCm39)	T375A	probably damaging	Het
Cfhr1	A	G	1: 139,487,871 (GRCm39)	L9S	probably damaging	Het
Chrm4	T	A	2: 91,757,952 (GRCm39)	M120K	probably damaging	Het
Col1a1	A	G	11: 94,840,921 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,362,963 (GRCm39)		probably null	Het
Csrnp3	A	T	2: 65,852,375 (GRCm39)	R256*	probably null	Het
Dbf4	T	A	5: 8,458,263 (GRCm39)	K190*	probably null	Het
Dnah10	A	T	5: 124,850,196 (GRCm39)	I1573F	probably damaging	Het
Dock8	A	G	19: 25,146,858 (GRCm39)	I1446V	probably benign	Het
Dst	G	T	1: 34,229,943 (GRCm39)	R2187M	probably damaging	Het
Espn	A	G	4: 152,222,961 (GRCm39)	Y306H	probably damaging	Het
Fkbpl	G	A	17: 34,864,839 (GRCm39)	M202I	probably benign	Het
Fn1	A	G	1: 71,681,242 (GRCm39)	L362P	probably damaging	Het
Ganc	A	C	2: 120,290,304 (GRCm39)	R880S	probably benign	Het
Gucy1b2	A	T	14: 62,685,695 (GRCm39)	L90Q	probably damaging	Het
Hcn1	T	A	13: 118,062,246 (GRCm39)	I504N	unknown	Het
Hdac2	C	A	10: 36,873,462 (GRCm39)	T352K	probably benign	Het
Hip1	T	C	5: 135,455,172 (GRCm39)		probably null	Het
Hspa13	G	A	16: 75,562,169 (GRCm39)	S10L	probably damaging	Het
Ipo5	T	C	14: 121,157,450 (GRCm39)	I96T	probably benign	Het
Isl1	T	C	13: 116,438,220 (GRCm39)	Y264C	probably damaging	Het
Izumo1	T	C	7: 45,275,657 (GRCm39)	I322T	probably benign	Het
Kars1	A	C	8: 112,729,158 (GRCm39)	V183G	possibly damaging	Het
Lrrc15	C	A	16: 30,093,086 (GRCm39)	M84I	probably benign	Het
Magi1	A	T	6: 93,671,177 (GRCm39)	V796E	probably damaging	Het
Matn4	G	T	2: 164,242,896 (GRCm39)	D67E	probably benign	Het
Mertk	A	G	2: 128,624,496 (GRCm39)	M636V	probably damaging	Het
Mettl27	C	A	5: 134,963,266 (GRCm39)	P126T	probably damaging	Het
Mfrp	T	A	9: 44,013,432 (GRCm39)	H52Q	possibly damaging	Het
Mrgprb8	T	G	7: 48,038,656 (GRCm39)	I109R	probably benign	Het
Mroh2a	G	A	1: 88,165,666 (GRCm39)	G512S	probably damaging	Het
Ncoa7	T	A	10: 30,598,655 (GRCm39)	R89S	possibly damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nin	G	T	12: 70,137,325 (GRCm39)	H84N	possibly damaging	Het
Nwd2	A	T	5: 63,962,893 (GRCm39)	I826F	possibly damaging	Het
Or10d1	A	G	9: 39,484,441 (GRCm39)	M38T	probably benign	Het
Or14c43	T	C	7: 86,115,117 (GRCm39)	F166S	probably damaging	Het
Or1j11	G	A	2: 36,312,012 (GRCm39)	V201I	probably benign	Het
Or4l15	C	T	14: 50,197,646 (GRCm39)	M294I	probably benign	Het
Or52a5b	T	C	7: 103,416,961 (GRCm39)	I214M	possibly damaging	Het
Or5k3	A	G	16: 58,969,393 (GRCm39)	Y60C	probably damaging	Het
Or5p73	T	C	7: 108,064,938 (GRCm39)	S136P	probably benign	Het
Otof	C	T	5: 30,576,748 (GRCm39)	R168H	probably damaging	Het
Pcdha6	T	C	18: 37,101,485 (GRCm39)	V226A	possibly damaging	Het
Pggt1b	T	C	18: 46,391,166 (GRCm39)	I200V	possibly damaging	Het
Ppat	G	A	5: 77,098,811 (GRCm39)	Q41*	probably null	Het
Ppfibp2	A	T	7: 107,342,192 (GRCm39)	H27L	probably damaging	Het
Rbm27	T	A	18: 42,460,510 (GRCm39)	I775N	probably damaging	Het
Rnf40	C	T	7: 127,191,812 (GRCm39)	R349*	probably null	Het
Rtp3	A	T	9: 110,818,544 (GRCm39)	W46R	probably damaging	Het
Sass6	C	T	3: 116,403,949 (GRCm39)	R196W	probably damaging	Het
Sel1l	A	T	12: 91,799,932 (GRCm39)	D131E	probably benign	Het
Slain2	T	C	5: 73,106,066 (GRCm39)	S234P	probably damaging	Het
Slc47a1	C	T	11: 61,264,176 (GRCm39)		probably null	Het
Sp140	CAGAAGAAG	CAGAAG	1: 85,538,529 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,440 (GRCm39)	T247A	probably benign	Het
Spef2	A	T	15: 9,713,264 (GRCm39)	Y369*	probably null	Het
Spred2	T	A	11: 19,948,233 (GRCm39)	M76K	possibly damaging	Het
Svs5	T	A	2: 164,078,806 (GRCm39)	D367V	probably benign	Het
Tasor2	G	A	13: 3,634,807 (GRCm39)	P667S	probably damaging	Het
Tefm	A	T	11: 80,027,947 (GRCm39)	D270E	probably benign	Het
Tfcp2l1	C	A	1: 118,597,194 (GRCm39)	P425H	probably benign	Het
Thbd	A	T	2: 148,248,591 (GRCm39)	C426S	probably damaging	Het
Timm10b	T	A	7: 105,333,219 (GRCm39)	D968E	probably damaging	Het
Tle2	C	T	10: 81,413,518 (GRCm39)	T119I	probably damaging	Het
Tnik	T	A	3: 28,650,224 (GRCm39)	Y446N	possibly damaging	Het
Tpr	T	A	1: 150,324,948 (GRCm39)	L2400*	probably null	Het
Trrap	T	C	5: 144,782,402 (GRCm39)	F3328S	probably damaging	Het
Vldlr	G	A	19: 27,215,465 (GRCm39)	C154Y	probably damaging	Het
Vmn1r79	T	G	7: 11,910,361 (GRCm39)	M81R	probably benign	Het
Vps13d	T	C	4: 144,812,000 (GRCm39)	T3305A	possibly damaging	Het
Wdr62	T	C	7: 29,970,111 (GRCm39)	E232G	probably damaging	Het
Wdr62	T	A	7: 29,940,890 (GRCm39)	I843F	probably benign	Het
Zfp747l1	T	C	7: 126,984,179 (GRCm39)	S308G	probably benign	Het
Zfp873	T	A	10: 81,896,353 (GRCm39)	H361Q	probably damaging	Het
Zfp949	A	C	9: 88,452,047 (GRCm39)	H539P	probably damaging	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
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'- GGGCTAGCCTTTCCAACTTC -3'
(R):5'- ACCCACCTAATTCTGAACTTGTG -3'

Sequencing Primer
(F):5'- AACTTCCTGCTGTCATCGG -3'
(R):5'- GTACCTACTAAGTGCTGGACCATG -3'

Posted On

2016-03-01