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 |
Ncbi RefSeq: NM_001012324.2; MGI:3039578
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R5368 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49504810-49532789 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 49520943 bp (GRCm38)
|
| 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: 131,139,196 (GRCm38) |
H97L |
possibly damaging |
Het |
| Abca9 |
T |
A |
11: 110,145,546 (GRCm38) |
N579I |
probably damaging |
Het |
| Acbd3 |
A |
T |
1: 180,722,095 (GRCm38) |
|
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,455,050 (GRCm38) |
I1056N |
probably damaging |
Het |
| Ceacam18 |
T |
C |
7: 43,642,034 (GRCm38) |
V300A |
probably benign |
Het |
| Cfap46 |
C |
A |
7: 139,627,473 (GRCm38) |
R1843S |
possibly damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,248,284 (GRCm38) |
V1229A |
probably damaging |
Het |
| Dbx2 |
G |
A |
15: 95,640,641 (GRCm38) |
S206L |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,954,893 (GRCm38) |
D1530E |
probably damaging |
Het |
| Emc2 |
G |
A |
15: 43,511,811 (GRCm38) |
|
probably null |
Het |
| Epb42 |
C |
T |
2: 121,019,462 (GRCm38) |
V689I |
probably benign |
Het |
| Fam114a1 |
T |
A |
5: 65,006,109 (GRCm38) |
M209K |
possibly damaging |
Het |
| Fam117a |
C |
T |
11: 95,375,633 (GRCm38) |
S193F |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,377,914 (GRCm38) |
|
probably benign |
Het |
| Frmd6 |
T |
A |
12: 70,864,100 (GRCm38) |
C19* |
probably null |
Het |
| Fyb |
A |
G |
15: 6,580,678 (GRCm38) |
|
probably null |
Het |
| Gata6 |
C |
A |
18: 11,063,059 (GRCm38) |
H442Q |
possibly damaging |
Het |
| Gldc |
A |
G |
19: 30,158,521 (GRCm38) |
S160P |
probably benign |
Het |
| Gm3952 |
A |
G |
8: 128,745,974 (GRCm38) |
S1626P |
possibly damaging |
Het |
| Gm9762 |
T |
A |
3: 78,966,435 (GRCm38) |
|
noncoding transcript |
Het |
| Gtpbp2 |
T |
C |
17: 46,166,304 (GRCm38) |
|
probably benign |
Het |
| Hgd |
A |
T |
16: 37,589,751 (GRCm38) |
T50S |
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,387,498 (GRCm38) |
T22M |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,915,884 (GRCm38) |
E1182K |
probably damaging |
Het |
| Kirrel3 |
A |
G |
9: 35,007,738 (GRCm38) |
E230G |
probably damaging |
Het |
| Leng8 |
A |
G |
7: 4,139,988 (GRCm38) |
Y88C |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,821,069 (GRCm38) |
D54G |
possibly damaging |
Het |
| Lypd2 |
G |
T |
15: 74,733,059 (GRCm38) |
A29E |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm38) |
P2542L |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,959,473 (GRCm38) |
Y1364C |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,905,572 (GRCm38) |
N163S |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,825,079 (GRCm38) |
C295Y |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,969,391 (GRCm38) |
L212Q |
probably damaging |
Het |
| Obscn |
A |
T |
11: 59,069,026 (GRCm38) |
|
probably null |
Het |
| Olfr1118 |
T |
A |
2: 87,308,782 (GRCm38) |
|
probably null |
Het |
| Olfr1215 |
A |
G |
2: 89,002,091 (GRCm38) |
S66P |
probably damaging |
Het |
| Peli1 |
A |
G |
11: 21,148,389 (GRCm38) |
T375A |
probably damaging |
Het |
| Picalm |
T |
C |
7: 90,207,595 (GRCm38) |
*611Q |
probably null |
Het |
| Plch1 |
G |
T |
3: 63,701,973 (GRCm38) |
Q938K |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,159,593 (GRCm38) |
V1352A |
possibly damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,228,322 (GRCm38) |
R147W |
probably damaging |
Het |
| Prdm16 |
T |
G |
4: 154,345,391 (GRCm38) |
K373Q |
probably damaging |
Het |
| Qk |
T |
G |
17: 10,239,035 (GRCm38) |
E135A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,684,246 (GRCm38) |
K556E |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,759,662 (GRCm38) |
|
probably null |
Het |
| Sin3a |
T |
A |
9: 57,110,800 (GRCm38) |
D834E |
possibly damaging |
Het |
| Smg8 |
G |
A |
11: 87,080,260 (GRCm38) |
S895L |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,979,390 (GRCm38) |
I1944M |
probably benign |
Het |
| Stam2 |
G |
A |
2: 52,736,293 (GRCm38) |
|
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,660,889 (GRCm38) |
W645R |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,941,017 (GRCm38) |
M1111V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,778,382 (GRCm38) |
D17763E |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,397,528 (GRCm38) |
|
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,661,365 (GRCm38) |
H637R |
probably damaging |
Het |
| Vps50 |
A |
C |
6: 3,567,739 (GRCm38) |
E545A |
possibly damaging |
Het |
| Wdfy3 |
G |
T |
5: 101,872,858 (GRCm38) |
L2527M |
probably damaging |
Het |
| Wfdc2 |
T |
C |
2: 164,563,434 (GRCm38) |
V85A |
possibly damaging |
Het |
|
| Other mutations in Ecm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00677:Ecm2
|
APN |
13 |
49,531,318 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL01685:Ecm2
|
APN |
13 |
49,528,898 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02070:Ecm2
|
APN |
13 |
49,518,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02108:Ecm2
|
APN |
13 |
49,518,444 (GRCm38) |
nonsense |
probably null |
|
|
IGL02138:Ecm2
|
APN |
13 |
49,522,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02937:Ecm2
|
APN |
13 |
49,518,476 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03350:Ecm2
|
APN |
13 |
49,520,944 (GRCm38) |
missense |
probably benign |
|
|
R0049:Ecm2
|
UTSW |
13 |
49,524,446 (GRCm38) |
nonsense |
probably null |
|
|
R0049:Ecm2
|
UTSW |
13 |
49,524,446 (GRCm38) |
nonsense |
probably null |
|
|
R0627:Ecm2
|
UTSW |
13 |
49,521,083 (GRCm38) |
splice site |
probably benign |
|
|
R1515:Ecm2
|
UTSW |
13 |
49,518,332 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1864:Ecm2
|
UTSW |
13 |
49,530,145 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1865:Ecm2
|
UTSW |
13 |
49,530,145 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1991:Ecm2
|
UTSW |
13 |
49,530,256 (GRCm38) |
missense |
probably benign |
0.28 |
|
R2103:Ecm2
|
UTSW |
13 |
49,530,256 (GRCm38) |
missense |
probably benign |
0.28 |
|
R2181:Ecm2
|
UTSW |
13 |
49,530,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2209:Ecm2
|
UTSW |
13 |
49,530,156 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2568:Ecm2
|
UTSW |
13 |
49,530,129 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4856:Ecm2
|
UTSW |
13 |
49,522,787 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4867:Ecm2
|
UTSW |
13 |
49,531,345 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4886:Ecm2
|
UTSW |
13 |
49,522,787 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R5420:Ecm2
|
UTSW |
13 |
49,527,734 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R6084:Ecm2
|
UTSW |
13 |
49,515,094 (GRCm38) |
nonsense |
probably null |
|
|
R6244:Ecm2
|
UTSW |
13 |
49,530,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6881:Ecm2
|
UTSW |
13 |
49,530,342 (GRCm38) |
nonsense |
probably null |
|
|
R6931:Ecm2
|
UTSW |
13 |
49,529,011 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7085:Ecm2
|
UTSW |
13 |
49,520,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7347:Ecm2
|
UTSW |
13 |
49,515,078 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7490:Ecm2
|
UTSW |
13 |
49,530,342 (GRCm38) |
nonsense |
probably null |
|
|
R8039:Ecm2
|
UTSW |
13 |
49,514,850 (GRCm38) |
missense |
probably benign |
|
|
R8131:Ecm2
|
UTSW |
13 |
49,518,464 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8333:Ecm2
|
UTSW |
13 |
49,518,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8345:Ecm2
|
UTSW |
13 |
49,520,800 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9042:Ecm2
|
UTSW |
13 |
49,528,963 (GRCm38) |
nonsense |
probably null |
|
|
R9286:Ecm2
|
UTSW |
13 |
49,530,220 (GRCm38) |
missense |
|
|
|
R9334:Ecm2
|
UTSW |
13 |
49,524,339 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9390:Ecm2
|
UTSW |
13 |
49,530,316 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9610:Ecm2
|
UTSW |
13 |
49,527,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9610:Ecm2
|
UTSW |
13 |
49,515,042 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9611:Ecm2
|
UTSW |
13 |
49,527,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9611:Ecm2
|
UTSW |
13 |
49,515,042 (GRCm38) |
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 |
Incidental Mutation