Incidental Mutation 'R6253:Ece2'
| ID |
506357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ece2
|
| Ensembl Gene |
ENSMUSG00000022842 |
| Gene Name |
endothelin converting enzyme 2 |
| Synonyms |
9630025D12Rik, 6330509A19Rik, 1810009K13Rik |
| MMRRC Submission |
044370-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
20448601-20464665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 20457932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 356
(N356H)
|
| 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: N385H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842
AA Change: N385H
| 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: N503H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293
AA Change: N503H
| 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: N532H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293
AA Change: N532H
| 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: N385H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842
AA Change: N385H
| 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 damaging
Transcript: ENSMUST00000125971
AA Change: N145H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120239
Gene: ENSMUSG00000022842
AA Change: N145H
| 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: N356H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842
AA Change: N356H
| 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 |
probably damaging
Transcript: ENSMUST00000147849
AA Change: N446H
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121231
Gene: ENSMUSG00000022842
AA Change: N446H
| 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: ENSMUST00000231739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152246
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,528,929 (GRCm39) |
Y151H |
possibly damaging |
Het |
| Aasdh |
A |
G |
5: 77,034,105 (GRCm39) |
I482T |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,616,526 (GRCm39) |
M989I |
probably benign |
Het |
| Acvr2b |
C |
T |
9: 119,257,627 (GRCm39) |
P220L |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,986,758 (GRCm39) |
D204G |
possibly damaging |
Het |
| Arpp19 |
G |
T |
9: 74,964,016 (GRCm39) |
D123Y |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,983,881 (GRCm39) |
I554T |
probably damaging |
Het |
| Bpifa5 |
A |
G |
2: 154,005,420 (GRCm39) |
M1V |
probably null |
Het |
| Cdh3 |
T |
A |
8: 107,263,695 (GRCm39) |
|
probably null |
Het |
| Cep170 |
A |
T |
1: 176,607,960 (GRCm39) |
D165E |
possibly damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
A |
G |
14: 75,957,152 (GRCm39) |
L627P |
probably damaging |
Het |
| Col23a1 |
C |
T |
11: 51,464,995 (GRCm39) |
L453F |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,633,657 (GRCm39) |
Q351L |
probably benign |
Het |
| Ddx4 |
T |
G |
13: 112,772,557 (GRCm39) |
K77N |
probably benign |
Het |
| Ddx4 |
C |
A |
13: 112,772,556 (GRCm39) |
E78* |
probably null |
Het |
| Decr1 |
A |
T |
4: 15,931,179 (GRCm39) |
N92K |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,411,571 (GRCm39) |
L600P |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,317,734 (GRCm39) |
I130N |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,187,097 (GRCm39) |
R1250C |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,505 (GRCm39) |
V1968D |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,923,987 (GRCm39) |
K82E |
probably damaging |
Het |
| Gm5431 |
A |
G |
11: 48,785,826 (GRCm39) |
V183A |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,735,984 (GRCm39) |
S1744P |
possibly damaging |
Het |
| Hnrnpa3 |
C |
G |
2: 75,492,914 (GRCm39) |
Q213E |
possibly damaging |
Het |
| Hspa1a |
A |
G |
17: 35,189,526 (GRCm39) |
F459S |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,751,283 (GRCm39) |
L1601P |
probably damaging |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,323 (GRCm39) |
D102V |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,248,352 (GRCm39) |
T534I |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,538,264 (GRCm39) |
S303R |
probably damaging |
Het |
| Lrpprc |
T |
A |
17: 85,048,065 (GRCm39) |
I845F |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,749,593 (GRCm39) |
T4259A |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,863,339 (GRCm39) |
S1197G |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,568 (GRCm39) |
I664T |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,793 (GRCm39) |
E1528G |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,152,319 (GRCm39) |
E69V |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,513,203 (GRCm39) |
D627V |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,528,314 (GRCm39) |
N1053S |
probably benign |
Het |
| Or10a4 |
G |
A |
7: 106,697,464 (GRCm39) |
R264H |
possibly damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,145 (GRCm39) |
S308T |
probably benign |
Het |
| Or6z3 |
T |
C |
7: 6,463,547 (GRCm39) |
V13A |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,247 (GRCm39) |
S399T |
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,091,558 (GRCm39) |
Y84F |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,802,160 (GRCm39) |
S278P |
probably benign |
Het |
| Prol1 |
A |
G |
5: 88,475,736 (GRCm39) |
Y42C |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,798,205 (GRCm39) |
E906G |
probably damaging |
Het |
| Pwwp3a |
T |
A |
10: 80,068,848 (GRCm39) |
C331S |
probably benign |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rbp4 |
G |
A |
19: 38,113,428 (GRCm39) |
T30M |
probably benign |
Het |
| Selenbp1 |
T |
C |
3: 94,851,157 (GRCm39) |
L351P |
possibly damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,156,255 (GRCm39) |
F115S |
probably damaging |
Het |
| Tigd3 |
A |
T |
19: 5,942,870 (GRCm39) |
Y87N |
probably damaging |
Het |
| Tigd5 |
T |
A |
15: 75,782,871 (GRCm39) |
L411H |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,258,272 (GRCm39) |
|
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,449 (GRCm39) |
Q416R |
probably damaging |
Het |
| Zfand4 |
T |
C |
6: 116,250,575 (GRCm39) |
F2L |
probably damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,682,020 (GRCm39) |
T3153M |
possibly damaging |
Het |
| Zfp697 |
T |
G |
3: 98,334,855 (GRCm39) |
C207G |
possibly damaging |
Het |
| Zfp935 |
T |
C |
13: 62,602,685 (GRCm39) |
T172A |
probably benign |
Het |
| Znrf3 |
G |
T |
11: 5,230,865 (GRCm39) |
L883I |
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 |
|
|
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 |
|
R8159:Ece2
|
UTSW |
16 |
20,430,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGTCTGTGGACCCTTCC -3'
(R):5'- TACACTGTGGGCAGGTACAC -3'
Sequencing Primer
(F):5'- TCAGGGTATCCATTTGTGACC -3'
(R):5'- GCAGGTACACCAGCTAGATTTAGTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation