Incidental Mutation 'R5368:Ecm2'
ID |
429495 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ecm2
|
Ensembl Gene |
ENSMUSG00000043631 |
Gene Name |
extracellular matrix protein 2, female organ and adipocyte specific |
Synonyms |
tenonectin, 9030618O22Rik |
MMRRC Submission |
043204-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R5368 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49658286-49686265 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 49674419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 280
(T280P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021818]
[ENSMUST00000051504]
|
AlphaFold |
Q5FW85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021818
|
SMART Domains |
Protein: ENSMUSP00000021818 Gene: ENSMUSG00000021391
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051504
AA Change: T280P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000060402 Gene: ENSMUSG00000043631 AA Change: T280P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
VWC
|
98 |
152 |
1.37e-11 |
SMART |
coiled coil region
|
235 |
269 |
N/A |
INTRINSIC |
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
LRR
|
314 |
336 |
1.41e2 |
SMART |
LRR
|
337 |
362 |
1.76e-1 |
SMART |
LRR
|
363 |
386 |
5.41e0 |
SMART |
LRR
|
408 |
433 |
1.91e1 |
SMART |
LRR
|
434 |
457 |
4.98e-1 |
SMART |
LRR
|
459 |
478 |
8.03e1 |
SMART |
LRR
|
506 |
528 |
2.76e1 |
SMART |
LRR
|
529 |
549 |
1.19e2 |
SMART |
LRR
|
578 |
600 |
1.81e1 |
SMART |
LRR
|
601 |
624 |
9.48e0 |
SMART |
LRR
|
631 |
655 |
6.06e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222592
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (61/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
|
Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
A |
7: 130,740,925 (GRCm39) |
H97L |
possibly damaging |
Het |
Abca9 |
T |
A |
11: 110,036,372 (GRCm39) |
N579I |
probably damaging |
Het |
Acbd3 |
A |
T |
1: 180,549,660 (GRCm39) |
|
probably benign |
Het |
Ankrd50 |
A |
T |
3: 38,509,199 (GRCm39) |
I1056N |
probably damaging |
Het |
Ceacam18 |
T |
C |
7: 43,291,458 (GRCm39) |
V300A |
probably benign |
Het |
Cfap46 |
C |
A |
7: 139,207,389 (GRCm39) |
R1843S |
possibly damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,078,629 (GRCm39) |
V1229A |
probably damaging |
Het |
Dbx2 |
G |
A |
15: 95,538,522 (GRCm39) |
S206L |
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,918,628 (GRCm39) |
D1530E |
probably damaging |
Het |
Emc2 |
G |
A |
15: 43,375,207 (GRCm39) |
|
probably null |
Het |
Epb42 |
C |
T |
2: 120,849,943 (GRCm39) |
V689I |
probably benign |
Het |
Fam114a1 |
T |
A |
5: 65,163,452 (GRCm39) |
M209K |
possibly damaging |
Het |
Fam117a |
C |
T |
11: 95,266,459 (GRCm39) |
S193F |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,377,913 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
A |
12: 70,910,874 (GRCm39) |
C19* |
probably null |
Het |
Fyb1 |
A |
G |
15: 6,610,159 (GRCm39) |
|
probably null |
Het |
Gata6 |
C |
A |
18: 11,063,059 (GRCm39) |
H442Q |
possibly damaging |
Het |
Gldc |
A |
G |
19: 30,135,921 (GRCm39) |
S160P |
probably benign |
Het |
Gm3952 |
A |
G |
8: 129,472,455 (GRCm39) |
S1626P |
possibly damaging |
Het |
Gm9762 |
T |
A |
3: 78,873,742 (GRCm39) |
|
noncoding transcript |
Het |
Gtpbp2 |
T |
C |
17: 46,477,230 (GRCm39) |
|
probably benign |
Het |
Hgd |
A |
T |
16: 37,410,113 (GRCm39) |
T50S |
probably benign |
Het |
Itpr1 |
C |
T |
6: 108,364,459 (GRCm39) |
T22M |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,743,449 (GRCm39) |
E1182K |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,919,034 (GRCm39) |
E230G |
probably damaging |
Het |
Leng8 |
A |
G |
7: 4,142,987 (GRCm39) |
Y88C |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,711,895 (GRCm39) |
D54G |
possibly damaging |
Het |
Lypd2 |
G |
T |
15: 74,604,908 (GRCm39) |
A29E |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,936,434 (GRCm39) |
Y1364C |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,935,054 (GRCm39) |
N163S |
probably damaging |
Het |
Mtf1 |
G |
A |
4: 124,718,872 (GRCm39) |
C295Y |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,969,391 (GRCm39) |
L212Q |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,959,852 (GRCm39) |
|
probably null |
Het |
Or10ag56 |
T |
A |
2: 87,139,126 (GRCm39) |
|
probably null |
Het |
Or4c110 |
A |
G |
2: 88,832,435 (GRCm39) |
S66P |
probably damaging |
Het |
Peli1 |
A |
G |
11: 21,098,389 (GRCm39) |
T375A |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,856,803 (GRCm39) |
*611Q |
probably null |
Het |
Plch1 |
G |
T |
3: 63,609,394 (GRCm39) |
Q938K |
possibly damaging |
Het |
Plxnb2 |
A |
G |
15: 89,043,796 (GRCm39) |
V1352A |
possibly damaging |
Het |
Pmepa1 |
G |
A |
2: 173,070,115 (GRCm39) |
R147W |
probably damaging |
Het |
Prdm16 |
T |
G |
4: 154,429,848 (GRCm39) |
K373Q |
probably damaging |
Het |
Qki |
T |
G |
17: 10,457,964 (GRCm39) |
E135A |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,575,073 (GRCm39) |
K556E |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Sin3a |
T |
A |
9: 57,018,084 (GRCm39) |
D834E |
possibly damaging |
Het |
Smg8 |
G |
A |
11: 86,971,086 (GRCm39) |
S895L |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,890,686 (GRCm39) |
I1944M |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tmprss7 |
A |
T |
16: 45,481,252 (GRCm39) |
W645R |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,980,176 (GRCm39) |
M1111V |
probably benign |
Het |
Ttn |
A |
C |
2: 76,608,726 (GRCm39) |
D17763E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,124,839 (GRCm39) |
|
probably benign |
Het |
Usp31 |
T |
C |
7: 121,260,588 (GRCm39) |
H637R |
probably damaging |
Het |
Vps50 |
A |
C |
6: 3,567,739 (GRCm39) |
E545A |
possibly damaging |
Het |
Wdfy3 |
G |
T |
5: 102,020,724 (GRCm39) |
L2527M |
probably damaging |
Het |
Wfdc2 |
T |
C |
2: 164,405,354 (GRCm39) |
V85A |
possibly damaging |
Het |
|
Other mutations in Ecm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00677:Ecm2
|
APN |
13 |
49,684,794 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01685:Ecm2
|
APN |
13 |
49,682,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02070:Ecm2
|
APN |
13 |
49,671,846 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02108:Ecm2
|
APN |
13 |
49,671,920 (GRCm39) |
nonsense |
probably null |
|
IGL02138:Ecm2
|
APN |
13 |
49,676,304 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02937:Ecm2
|
APN |
13 |
49,671,952 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03350:Ecm2
|
APN |
13 |
49,674,420 (GRCm39) |
missense |
probably benign |
|
R0049:Ecm2
|
UTSW |
13 |
49,677,922 (GRCm39) |
nonsense |
probably null |
|
R0049:Ecm2
|
UTSW |
13 |
49,677,922 (GRCm39) |
nonsense |
probably null |
|
R0627:Ecm2
|
UTSW |
13 |
49,674,559 (GRCm39) |
splice site |
probably benign |
|
R1515:Ecm2
|
UTSW |
13 |
49,671,808 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1864:Ecm2
|
UTSW |
13 |
49,683,621 (GRCm39) |
missense |
probably benign |
0.28 |
R1865:Ecm2
|
UTSW |
13 |
49,683,621 (GRCm39) |
missense |
probably benign |
0.28 |
R1991:Ecm2
|
UTSW |
13 |
49,683,732 (GRCm39) |
missense |
probably benign |
0.28 |
R2103:Ecm2
|
UTSW |
13 |
49,683,732 (GRCm39) |
missense |
probably benign |
0.28 |
R2181:Ecm2
|
UTSW |
13 |
49,683,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R2209:Ecm2
|
UTSW |
13 |
49,683,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R2568:Ecm2
|
UTSW |
13 |
49,683,605 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4856:Ecm2
|
UTSW |
13 |
49,676,263 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4867:Ecm2
|
UTSW |
13 |
49,684,821 (GRCm39) |
missense |
probably damaging |
0.99 |
R4886:Ecm2
|
UTSW |
13 |
49,676,263 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5420:Ecm2
|
UTSW |
13 |
49,681,210 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6084:Ecm2
|
UTSW |
13 |
49,668,570 (GRCm39) |
nonsense |
probably null |
|
R6244:Ecm2
|
UTSW |
13 |
49,683,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R6881:Ecm2
|
UTSW |
13 |
49,683,818 (GRCm39) |
nonsense |
probably null |
|
R6931:Ecm2
|
UTSW |
13 |
49,682,487 (GRCm39) |
missense |
probably benign |
0.00 |
R7085:Ecm2
|
UTSW |
13 |
49,674,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R7347:Ecm2
|
UTSW |
13 |
49,668,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R7490:Ecm2
|
UTSW |
13 |
49,683,818 (GRCm39) |
nonsense |
probably null |
|
R8039:Ecm2
|
UTSW |
13 |
49,668,326 (GRCm39) |
missense |
probably benign |
|
R8131:Ecm2
|
UTSW |
13 |
49,671,940 (GRCm39) |
missense |
probably benign |
0.33 |
R8333:Ecm2
|
UTSW |
13 |
49,671,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R8345:Ecm2
|
UTSW |
13 |
49,674,276 (GRCm39) |
missense |
probably benign |
0.00 |
R9042:Ecm2
|
UTSW |
13 |
49,682,439 (GRCm39) |
nonsense |
probably null |
|
R9286:Ecm2
|
UTSW |
13 |
49,683,696 (GRCm39) |
missense |
|
|
R9334:Ecm2
|
UTSW |
13 |
49,677,815 (GRCm39) |
missense |
probably benign |
0.00 |
R9390:Ecm2
|
UTSW |
13 |
49,683,792 (GRCm39) |
missense |
probably benign |
0.00 |
R9610:Ecm2
|
UTSW |
13 |
49,681,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Ecm2
|
UTSW |
13 |
49,668,518 (GRCm39) |
missense |
probably benign |
0.39 |
R9611:Ecm2
|
UTSW |
13 |
49,681,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R9611:Ecm2
|
UTSW |
13 |
49,668,518 (GRCm39) |
missense |
probably benign |
0.39 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTACTAAGATCCATGGCG -3'
(R):5'- TCATATGGCGGTAAAATTCACCC -3'
Sequencing Primer
(F):5'- CTGAGAGAAAACTGAGGCCG -3'
(R):5'- GGCGGTAAAATTCACCCTTATATCTG -3'
|
Posted On |
2016-09-06 |