Incidental Mutation 'R8131:Ecm2'
| ID |
632033 |
| 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 |
067560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R8131 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
49658286-49686265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49671940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 147
(E147G)
|
| 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: E147G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: E147G
| 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 |
|
| Meta Mutation Damage Score |
0.2890 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
100% (50/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
G |
11: 70,506,834 (GRCm39) |
|
probably null |
Het |
| Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
| Acan |
C |
T |
7: 78,741,086 (GRCm39) |
P484L |
possibly damaging |
Het |
| Amotl2 |
T |
A |
9: 102,597,615 (GRCm39) |
Y125N |
probably damaging |
Het |
| Apaf1 |
C |
A |
10: 90,913,420 (GRCm39) |
V168F |
possibly damaging |
Het |
| Arhgap32 |
C |
T |
9: 32,158,426 (GRCm39) |
H154Y |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,271,346 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
C |
T |
11: 120,163,664 (GRCm39) |
A654V |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,931,967 (GRCm39) |
M202L |
probably benign |
Het |
| Cdc40 |
C |
A |
10: 40,717,473 (GRCm39) |
R406L |
possibly damaging |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Col26a1 |
T |
C |
5: 136,775,894 (GRCm39) |
D353G |
probably benign |
Het |
| Col6a5 |
T |
A |
9: 105,778,815 (GRCm39) |
Q1682L |
unknown |
Het |
| Cul9 |
C |
T |
17: 46,822,168 (GRCm39) |
G1819D |
probably damaging |
Het |
| Cyp2b10 |
C |
T |
7: 25,614,242 (GRCm39) |
Q239* |
probably null |
Het |
| Dthd1 |
T |
A |
5: 63,000,259 (GRCm39) |
I527N |
probably damaging |
Het |
| Dzip3 |
C |
T |
16: 48,754,156 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
C |
T |
13: 63,982,561 (GRCm39) |
T132M |
probably damaging |
Het |
| Esf1 |
G |
A |
2: 139,990,751 (GRCm39) |
Q578* |
probably null |
Het |
| Gria4 |
C |
T |
9: 4,502,429 (GRCm39) |
R368H |
probably benign |
Het |
| Hps5 |
T |
C |
7: 46,421,312 (GRCm39) |
D717G |
probably benign |
Het |
| Hrh1 |
A |
T |
6: 114,457,253 (GRCm39) |
D178V |
probably benign |
Het |
| Inppl1 |
T |
C |
7: 101,479,268 (GRCm39) |
N537S |
possibly damaging |
Het |
| Itih1 |
T |
C |
14: 30,663,521 (GRCm39) |
Y165C |
probably damaging |
Het |
| Krt71 |
T |
A |
15: 101,643,141 (GRCm39) |
I456F |
possibly damaging |
Het |
| Larp4 |
T |
C |
15: 99,892,570 (GRCm39) |
V255A |
probably damaging |
Het |
| Lrriq1 |
T |
G |
10: 103,051,572 (GRCm39) |
R393S |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,813,558 (GRCm39) |
I31L |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,396,146 (GRCm39) |
T134I |
unknown |
Het |
| Neurl4 |
T |
C |
11: 69,800,067 (GRCm39) |
Y1052H |
probably benign |
Het |
| Nlrc5 |
C |
G |
8: 95,208,420 (GRCm39) |
N755K |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,108,502 (GRCm39) |
K363R |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,335 (GRCm39) |
S494P |
possibly damaging |
Het |
| Pcnx1 |
C |
A |
12: 81,965,292 (GRCm39) |
S486R |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,161 (GRCm39) |
R494* |
probably null |
Het |
| Plrg1 |
T |
A |
3: 82,977,081 (GRCm39) |
V374E |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,042,916 (GRCm39) |
I1491T |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Scn4a |
T |
C |
11: 106,232,367 (GRCm39) |
E490G |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,300,958 (GRCm39) |
V887A |
|
Het |
| Serpina3a |
T |
C |
12: 104,082,467 (GRCm39) |
I80T |
probably damaging |
Het |
| Setd1b |
A |
T |
5: 123,281,443 (GRCm39) |
I66F |
unknown |
Het |
| Slirp |
T |
A |
12: 87,494,428 (GRCm39) |
|
probably null |
Het |
| Socs6 |
A |
C |
18: 88,888,169 (GRCm39) |
S249A |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,669,027 (GRCm39) |
E1183G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,616,077 (GRCm39) |
I16622N |
probably damaging |
Het |
| Uox |
A |
T |
3: 146,331,589 (GRCm39) |
T237S |
probably damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,326 (GRCm39) |
I296L |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,601,943 (GRCm39) |
D565V |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,372,255 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
G |
4: 144,882,707 (GRCm39) |
V962A |
|
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 |
|
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 |
|
|
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'- TCCACTCGGGGATTTGGATAATC -3'
(R):5'- CTATCTGTTTATCAGCACTGAGC -3'
Sequencing Primer
(F):5'- CTTTTAATCCTAGCACTCAGAAGGC -3'
(R):5'- GCACTGAGCTACATTTAAGTGCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation