Incidental Mutation 'R2181:Ecm2'
| ID |
237201 |
| 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 |
040183-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R2181 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
49658286-49686265 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49683765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 581
(L581Q)
|
| 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: L581Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: L581Q
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
C |
T |
16: 3,724,950 (GRCm39) |
S43N |
possibly damaging |
Het |
| Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
| Adgra2 |
G |
A |
8: 27,611,701 (GRCm39) |
G1002S |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,112 (GRCm39) |
T114A |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,846,828 (GRCm39) |
S75T |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,597,541 (GRCm39) |
C486R |
possibly damaging |
Het |
| Faxc |
T |
A |
4: 21,931,591 (GRCm39) |
S10T |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,482,008 (GRCm39) |
I1893T |
possibly damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,268,372 (GRCm39) |
D328E |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,791 (GRCm39) |
I421V |
possibly damaging |
Het |
| Gorasp1 |
A |
G |
9: 119,757,422 (GRCm39) |
S317P |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,736 (GRCm39) |
S113P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,520,951 (GRCm39) |
E168G |
probably damaging |
Het |
| Kdm6b |
A |
T |
11: 69,291,952 (GRCm39) |
Y1443* |
probably null |
Het |
| Mmp28 |
A |
C |
11: 83,333,543 (GRCm39) |
V466G |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,937,360 (GRCm39) |
S750R |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 34,057,853 (GRCm39) |
N314D |
probably benign |
Het |
| Numbl |
T |
A |
7: 26,968,346 (GRCm39) |
|
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,524 (GRCm39) |
K90M |
probably damaging |
Het |
| Or1j17 |
G |
A |
2: 36,578,346 (GRCm39) |
D111N |
probably damaging |
Het |
| Or2p2 |
G |
T |
13: 21,257,394 (GRCm39) |
P26T |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,719,418 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,438 (GRCm39) |
V149F |
probably benign |
Het |
| Penk |
T |
C |
4: 4,134,041 (GRCm39) |
|
probably null |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,936 (GRCm39) |
S31P |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,366 (GRCm39) |
S538P |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,815 (GRCm39) |
T252A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,509,098 (GRCm39) |
I394V |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,816,272 (GRCm39) |
V510F |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,640,651 (GRCm39) |
H677R |
possibly damaging |
Het |
| Stam2 |
A |
T |
2: 52,593,156 (GRCm39) |
H345Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,284,835 (GRCm39) |
N600S |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,952,279 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,595 (GRCm39) |
C284* |
probably null |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,743 (GRCm39) |
I745V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,392 (GRCm39) |
D2850A |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,671 (GRCm39) |
W36R |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,821,674 (GRCm39) |
T463I |
probably damaging |
Het |
| Zfp811 |
T |
G |
17: 33,016,695 (GRCm39) |
K448N |
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 |
|
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 |
|
|
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'- CCTGAGGTTCCTTATGCTGC -3'
(R):5'- ACTCTGCAGGTCACTTTCTG -3'
Sequencing Primer
(F):5'- ATTGACCTGTCCTATAACAAGCTC -3'
(R):5'- GCAGGTCACTTTCTGTATTACATG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation