Incidental Mutation 'R2209:Ecm2'
| ID |
239277 |
| 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 |
040211-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R2209 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49658286-49686265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49683632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 537
(N537D)
|
| 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 damaging
Transcript: ENSMUST00000051504
AA Change: N537D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: N537D
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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 |
|---|
| 6430548M08Rik |
A |
G |
8: 120,884,227 (GRCm39) |
E330G |
possibly damaging |
Het |
| Apob |
A |
C |
12: 8,057,752 (GRCm39) |
D2078A |
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,854,331 (GRCm39) |
Q1681L |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,998,609 (GRCm39) |
T306A |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,047,394 (GRCm39) |
D1053N |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,384,795 (GRCm39) |
I2495N |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,599,634 (GRCm39) |
K840E |
possibly damaging |
Het |
| Cry1 |
A |
G |
10: 84,982,619 (GRCm39) |
L269P |
probably damaging |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,701 (GRCm39) |
E289* |
probably null |
Het |
| Dcp2 |
A |
T |
18: 44,538,581 (GRCm39) |
K215* |
probably null |
Het |
| Dnaaf11 |
A |
G |
15: 66,321,400 (GRCm39) |
I247T |
probably benign |
Het |
| Emid1 |
G |
A |
11: 5,085,407 (GRCm39) |
T113M |
probably benign |
Het |
| Exoc8 |
C |
T |
8: 125,622,918 (GRCm39) |
W483* |
probably null |
Het |
| Fes |
A |
T |
7: 80,030,031 (GRCm39) |
N582K |
probably damaging |
Het |
| Flnb |
G |
T |
14: 7,905,507 (GRCm38) |
E1086* |
probably null |
Het |
| Flnc |
T |
A |
6: 29,455,844 (GRCm39) |
D2058E |
possibly damaging |
Het |
| Gatb |
G |
A |
3: 85,561,112 (GRCm39) |
D543N |
probably benign |
Het |
| Gm14412 |
A |
G |
2: 177,009,229 (GRCm39) |
V9A |
probably damaging |
Het |
| Gm4884 |
T |
C |
7: 40,692,745 (GRCm39) |
V238A |
possibly damaging |
Het |
| Igfbp5 |
A |
G |
1: 72,913,096 (GRCm39) |
V68A |
possibly damaging |
Het |
| Igflr1 |
T |
A |
7: 30,267,222 (GRCm39) |
I330N |
probably damaging |
Het |
| Il1r2 |
A |
G |
1: 40,154,298 (GRCm39) |
T222A |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,330,989 (GRCm39) |
E419G |
probably benign |
Het |
| Lman2 |
A |
G |
13: 55,499,315 (GRCm39) |
S187P |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,029,288 (GRCm39) |
E76G |
possibly damaging |
Het |
| Mtx3 |
A |
G |
13: 92,984,112 (GRCm39) |
I130V |
probably benign |
Het |
| Naf1 |
T |
G |
8: 67,313,188 (GRCm39) |
|
probably benign |
Het |
| Nkx2-1 |
T |
G |
12: 56,580,293 (GRCm39) |
M216L |
probably benign |
Het |
| Notch1 |
C |
A |
2: 26,350,019 (GRCm39) |
V2374L |
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,543,037 (GRCm39) |
D1087G |
probably benign |
Het |
| Nudt8 |
T |
C |
19: 4,051,902 (GRCm39) |
F171S |
probably damaging |
Het |
| Or5an1 |
T |
G |
19: 12,261,224 (GRCm39) |
F271V |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,785,357 (GRCm39) |
C916* |
probably null |
Het |
| Phyhip |
A |
T |
14: 70,699,334 (GRCm39) |
N46Y |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,140,874 (GRCm39) |
Y502C |
possibly damaging |
Het |
| Prkcg |
A |
C |
7: 3,352,097 (GRCm39) |
|
probably benign |
Het |
| Prl8a6 |
C |
T |
13: 27,619,369 (GRCm39) |
E118K |
probably benign |
Het |
| Prpf39 |
T |
C |
12: 65,104,689 (GRCm39) |
|
probably null |
Het |
| Ptprb |
A |
G |
10: 116,205,262 (GRCm39) |
H2159R |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,595 (GRCm39) |
D571V |
probably damaging |
Het |
| Rps19 |
C |
T |
7: 24,584,552 (GRCm39) |
L34F |
probably benign |
Het |
| Rusc1 |
A |
G |
3: 88,996,128 (GRCm39) |
S145P |
probably damaging |
Het |
| Scn4a |
T |
A |
11: 106,230,051 (GRCm39) |
T586S |
probably damaging |
Het |
| Slc7a12 |
A |
G |
3: 14,546,124 (GRCm39) |
S90G |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,410 (GRCm39) |
D619G |
probably damaging |
Het |
| Src |
A |
G |
2: 157,304,710 (GRCm39) |
D143G |
probably benign |
Het |
| Sst |
T |
C |
16: 23,708,558 (GRCm39) |
N91S |
probably benign |
Het |
| Stxbp5l |
T |
A |
16: 37,036,398 (GRCm39) |
I406F |
probably damaging |
Het |
| Thsd1 |
T |
A |
8: 22,748,887 (GRCm39) |
I525N |
probably damaging |
Het |
| Ticam2 |
A |
T |
18: 46,693,467 (GRCm39) |
F207I |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,656,180 (GRCm39) |
N31K |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,336,989 (GRCm39) |
V253A |
probably benign |
Het |
| Ttc33 |
A |
G |
15: 5,237,924 (GRCm39) |
K99R |
possibly damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,806,212 (GRCm39) |
N140I |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,990,498 (GRCm39) |
V45I |
probably benign |
Het |
| Zbtb25 |
A |
G |
12: 76,395,903 (GRCm39) |
*440Q |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,461,978 (GRCm39) |
C1218S |
probably damaging |
Het |
| Zfp84 |
T |
A |
7: 29,476,607 (GRCm39) |
I433N |
probably 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 |
|
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 |
|
R5368:Ecm2
|
UTSW |
13 |
49,674,419 (GRCm39) |
missense |
probably benign |
|
|
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'- GCTAGAACCTAGGTCTGTTCAGG -3'
(R):5'- GTTCAGCCTCAGAAAATGCAGTG -3'
Sequencing Primer
(F):5'- CTGTTCAGGATCATTAGGACGACC -3'
(R):5'- GCCTCAGAAAATGCAGTGCTTTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation