Incidental Mutation 'IGL03351:Mmp2'
| ID |
419709 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mmp2
|
| Ensembl Gene |
ENSMUSG00000031740 |
| Gene Name |
matrix metallopeptidase 2 |
| Synonyms |
Clg4a, 72kDa gelatinase, gelatinase A, 72kDa type IV collagenase, GelA, MMP-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
IGL03351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93553920-93580049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93565970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 424
(I424V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034187]
[ENSMUST00000211567]
|
| AlphaFold |
P33434 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034187
AA Change: I424V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: I424V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
43 |
97 |
2.4e-9 |
PFAM |
|
ZnMc
|
115 |
447 |
1.06e-49 |
SMART |
|
FN2
|
226 |
274 |
2.88e-25 |
SMART |
|
FN2
|
284 |
332 |
5.17e-27 |
SMART |
|
FN2
|
342 |
390 |
3.33e-30 |
SMART |
|
HX
|
477 |
520 |
1.13e-4 |
SMART |
|
HX
|
522 |
565 |
1.33e-10 |
SMART |
|
HX
|
570 |
617 |
2.21e-16 |
SMART |
|
HX
|
619 |
662 |
4.29e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211308
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211567
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211691
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme that hydrolyzes collagens, gelatins, laminin, fibronectin and elastin. Mice lacking the encoded protein exhibit suppressed angiogenesis and attenuated features of human multicentric osteolysis with arthritis including abnormal skeletal and craniofacial development. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit slightly delayed growth, reduced neovascularization, retarded tumor progression, an exaggerated asthma response to allergens, and impaired branching morphogenesis of the mammary gland. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,561,427 (GRCm39) |
D251E |
probably benign |
Het |
| 5730460C07Rik |
C |
T |
3: 153,495,595 (GRCm39) |
|
noncoding transcript |
Het |
| Coch |
G |
A |
12: 51,649,989 (GRCm39) |
R326Q |
probably benign |
Het |
| Cpa3 |
A |
G |
3: 20,270,126 (GRCm39) |
V366A |
probably benign |
Het |
| Csf1r |
C |
T |
18: 61,250,180 (GRCm39) |
Q382* |
probably null |
Het |
| Csta1 |
C |
A |
16: 35,951,411 (GRCm39) |
G4* |
probably null |
Het |
| Cts7 |
T |
C |
13: 61,504,417 (GRCm39) |
R49G |
probably damaging |
Het |
| Dlg5 |
A |
G |
14: 24,220,522 (GRCm39) |
V575A |
probably benign |
Het |
| Ero1a |
G |
T |
14: 45,531,990 (GRCm39) |
N227K |
probably benign |
Het |
| Faap24 |
G |
T |
7: 35,094,734 (GRCm39) |
C58* |
probably null |
Het |
| Hfm1 |
G |
A |
5: 107,059,441 (GRCm39) |
Q194* |
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,709,319 (GRCm39) |
Y285N |
probably damaging |
Het |
| Hyal6 |
G |
A |
6: 24,743,428 (GRCm39) |
G375R |
probably damaging |
Het |
| Itgb5 |
T |
C |
16: 33,730,922 (GRCm39) |
S93P |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,633,442 (GRCm39) |
M205K |
probably damaging |
Het |
| Kdm6a |
C |
T |
X: 18,113,343 (GRCm39) |
Q92* |
probably null |
Het |
| Klhl38 |
A |
G |
15: 58,186,726 (GRCm39) |
M1T |
probably null |
Het |
| Krtap7-1 |
T |
C |
16: 89,304,884 (GRCm39) |
|
probably benign |
Het |
| L1cam |
T |
C |
X: 72,906,634 (GRCm39) |
T270A |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,598,015 (GRCm39) |
N45S |
probably benign |
Het |
| Magea13 |
G |
A |
X: 57,964,297 (GRCm39) |
V19I |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,194,739 (GRCm39) |
Q1650R |
possibly damaging |
Het |
| Naalad2 |
T |
A |
9: 18,275,483 (GRCm39) |
E313V |
possibly damaging |
Het |
| Nipsnap3a |
A |
G |
4: 52,994,134 (GRCm39) |
T74A |
probably benign |
Het |
| Npr2 |
G |
T |
4: 43,640,652 (GRCm39) |
M368I |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,466,224 (GRCm39) |
T445A |
probably benign |
Het |
| Or14a256 |
A |
G |
7: 86,264,885 (GRCm39) |
Y323H |
possibly damaging |
Het |
| Or52r1b |
A |
G |
7: 102,691,337 (GRCm39) |
D212G |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,606 (GRCm39) |
T73A |
probably benign |
Het |
| Pole |
A |
G |
5: 110,449,864 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3d |
C |
T |
9: 101,088,391 (GRCm39) |
G644D |
probably benign |
Het |
| Pramel23 |
G |
A |
4: 143,423,658 (GRCm39) |
T377I |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,175,487 (GRCm39) |
Y1161H |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,744,943 (GRCm39) |
K264N |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,020,311 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,613,172 (GRCm39) |
I376N |
probably damaging |
Het |
| Setx |
T |
G |
2: 29,051,811 (GRCm39) |
I2062M |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,363,531 (GRCm39) |
D99G |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,401 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,451,154 (GRCm39) |
Y309H |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,024,595 (GRCm39) |
D1178G |
probably damaging |
Het |
| Trav5-1 |
G |
A |
14: 52,860,302 (GRCm39) |
E36K |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,535,099 (GRCm39) |
V274A |
probably benign |
Het |
| Vmn1r29 |
A |
T |
6: 58,284,735 (GRCm39) |
S152C |
probably damaging |
Het |
| Washc5 |
C |
A |
15: 59,235,199 (GRCm39) |
|
probably benign |
Het |
| Zfp369 |
T |
G |
13: 65,443,967 (GRCm39) |
L370R |
possibly damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,173 (GRCm39) |
Y234C |
probably damaging |
Het |
|
| Other mutations in Mmp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00647:Mmp2
|
APN |
8 |
93,557,312 (GRCm39) |
missense |
probably benign |
|
|
IGL02165:Mmp2
|
APN |
8 |
93,559,847 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02424:Mmp2
|
APN |
8 |
93,562,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02478:Mmp2
|
APN |
8 |
93,579,235 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2012:Mmp2
|
UTSW |
8 |
93,576,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2034:Mmp2
|
UTSW |
8 |
93,563,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Mmp2
|
UTSW |
8 |
93,576,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Mmp2
|
UTSW |
8 |
93,579,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Mmp2
|
UTSW |
8 |
93,558,413 (GRCm39) |
nonsense |
probably null |
|
|
R5357:Mmp2
|
UTSW |
8 |
93,559,780 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6902:Mmp2
|
UTSW |
8 |
93,563,545 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6925:Mmp2
|
UTSW |
8 |
93,566,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Mmp2
|
UTSW |
8 |
93,558,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Mmp2
|
UTSW |
8 |
93,558,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Mmp2
|
UTSW |
8 |
93,567,038 (GRCm39) |
missense |
probably benign |
|
|
R7332:Mmp2
|
UTSW |
8 |
93,576,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Mmp2
|
UTSW |
8 |
93,562,755 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7549:Mmp2
|
UTSW |
8 |
93,563,594 (GRCm39) |
missense |
probably null |
1.00 |
|
R7585:Mmp2
|
UTSW |
8 |
93,563,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7694:Mmp2
|
UTSW |
8 |
93,558,358 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7814:Mmp2
|
UTSW |
8 |
93,576,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8536:Mmp2
|
UTSW |
8 |
93,557,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Mmp2
|
UTSW |
8 |
93,567,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Mmp2
|
UTSW |
8 |
93,554,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation