Incidental Mutation 'R0063:Ece2'
ID |
16336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ece2
|
Ensembl Gene |
ENSMUSG00000022842 |
Gene Name |
endothelin converting enzyme 2 |
Synonyms |
9630025D12Rik, 6330509A19Rik, 1810009K13Rik |
MMRRC Submission |
038355-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0063 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
20448601-20464665 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20461067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 442
(T442A)
|
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 benign
Transcript: ENSMUST00000003898
AA Change: T471A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000003898 Gene: ENSMUSG00000022842 AA Change: T471A
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
AA Change: T589A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078550 Gene: ENSMUSG00000115293 AA Change: T589A
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 benign
Transcript: ENSMUST00000120394
AA Change: T618A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113475 Gene: ENSMUSG00000115293 AA Change: T618A
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: ENSMUST00000122306
AA Change: T471A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114039 Gene: ENSMUSG00000022842 AA Change: T471A
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: T231A
|
SMART Domains |
Protein: ENSMUSP00000120239 Gene: ENSMUSG00000022842 AA Change: T231A
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
AA Change: T442A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119693 Gene: ENSMUSG00000022842 AA Change: T442A
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 |
|
SMART Domains |
Protein: ENSMUSP00000121231 Gene: ENSMUSG00000022842 AA Change: T532A
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 89.1%
- 3x: 86.1%
- 10x: 78.0%
- 20x: 64.7%
|
Validation Efficiency |
99% (86/87) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
Dazl |
T |
C |
17: 152,705,859 (NCBIm37) |
T212A |
probably damaging |
Het |
Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
Emid1 |
A |
T |
11: 5,139,704 (GRCm38) |
|
probably benign |
Het |
Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
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 |
|
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 |
|
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 |
|
Posted On |
2013-01-20 |