Incidental Mutation 'IGL02478:Mmp2'
| ID |
295047 |
| 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 # |
IGL02478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93553920-93580049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93579235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 108
(N108S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034187]
[ENSMUST00000046290]
[ENSMUST00000209265]
[ENSMUST00000210099]
[ENSMUST00000211567]
|
| AlphaFold |
P33434 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034187
AA Change: N644S
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: N644S
| 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 |
probably benign
Transcript: ENSMUST00000046290
|
| SMART Domains |
Protein: ENSMUSP00000049252
Gene: ENSMUSG00000033192
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
45 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
PlsC
|
140 |
251 |
2.78e-22 |
SMART |
|
Blast:PlsC
|
284 |
326 |
3e-19 |
BLAST |
|
EFh
|
395 |
423 |
4.49e-4 |
SMART |
|
EFh
|
432 |
460 |
6.11e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130471
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209265
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211295
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211308
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211567
AA Change: N108S
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,856,018 (GRCm39) |
A42E |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,451,985 (GRCm39) |
F247L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,049,332 (GRCm39) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,408,585 (GRCm39) |
D1974G |
unknown |
Het |
| Asxl3 |
C |
T |
18: 22,656,070 (GRCm39) |
A1360V |
possibly damaging |
Het |
| Celsr1 |
T |
A |
15: 85,825,337 (GRCm39) |
T1599S |
possibly damaging |
Het |
| Chrdl2 |
T |
C |
7: 99,670,190 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,701,794 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
C |
T |
9: 64,222,055 (GRCm39) |
E452K |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,499,840 (GRCm39) |
P213L |
probably benign |
Het |
| Erbb3 |
T |
A |
10: 128,407,227 (GRCm39) |
R978* |
probably null |
Het |
| Exoc2 |
A |
T |
13: 31,111,403 (GRCm39) |
C142S |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,695,039 (GRCm39) |
E735G |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,123,864 (GRCm39) |
V174A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,364 (GRCm39) |
L419P |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,814,736 (GRCm39) |
V3490L |
probably benign |
Het |
| Ftcd |
A |
T |
10: 76,417,255 (GRCm39) |
R255* |
probably null |
Het |
| Galc |
T |
C |
12: 98,179,391 (GRCm39) |
N506S |
possibly damaging |
Het |
| Gm20441 |
G |
T |
10: 75,608,644 (GRCm39) |
A26E |
probably damaging |
Het |
| Gm21969 |
T |
G |
4: 139,367,999 (GRCm39) |
|
probably null |
Het |
| Ifitm3 |
T |
A |
7: 140,589,787 (GRCm39) |
M89L |
possibly damaging |
Het |
| Ift25 |
T |
A |
4: 107,132,449 (GRCm39) |
S79T |
probably benign |
Het |
| Inmt |
T |
C |
6: 55,150,355 (GRCm39) |
E94G |
probably damaging |
Het |
| Insrr |
G |
A |
3: 87,716,719 (GRCm39) |
G649D |
probably benign |
Het |
| Ivd |
T |
C |
2: 118,692,572 (GRCm39) |
L24P |
probably benign |
Het |
| Kcnc1 |
A |
G |
7: 46,084,593 (GRCm39) |
N506D |
probably benign |
Het |
| Krt39 |
T |
A |
11: 99,411,723 (GRCm39) |
D121V |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,461,536 (GRCm39) |
I510V |
probably benign |
Het |
| Mkx |
C |
T |
18: 7,002,418 (GRCm39) |
V43M |
probably damaging |
Het |
| Mob1b |
T |
C |
5: 88,903,947 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,661,844 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
T |
G |
11: 67,260,204 (GRCm39) |
S1881A |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,558,717 (GRCm39) |
E843G |
probably benign |
Het |
| Ngef |
A |
G |
1: 87,408,301 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,344 (GRCm39) |
I158N |
probably damaging |
Het |
| Osm |
A |
G |
11: 4,189,507 (GRCm39) |
Y97C |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,816,792 (GRCm39) |
L4556Q |
unknown |
Het |
| Pcyox1l |
T |
C |
18: 61,830,780 (GRCm39) |
D364G |
probably benign |
Het |
| Plekha6 |
T |
A |
1: 133,211,031 (GRCm39) |
V467E |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,758,158 (GRCm39) |
S312T |
probably damaging |
Het |
| Ripk1 |
T |
A |
13: 34,194,572 (GRCm39) |
L70Q |
probably damaging |
Het |
| Rnaseh1 |
A |
T |
12: 28,705,662 (GRCm39) |
Y162F |
probably damaging |
Het |
| Ror2 |
T |
A |
13: 53,275,703 (GRCm39) |
T195S |
probably damaging |
Het |
| Sh3bp2 |
T |
C |
5: 34,709,006 (GRCm39) |
L33P |
probably damaging |
Het |
| Skil |
T |
A |
3: 31,151,968 (GRCm39) |
C163* |
probably null |
Het |
| Slc25a37 |
A |
T |
14: 69,486,883 (GRCm39) |
N133K |
probably benign |
Het |
| Slitrk3 |
A |
C |
3: 72,958,046 (GRCm39) |
V242G |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,801,845 (GRCm39) |
S82P |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,088,199 (GRCm39) |
N1417D |
probably benign |
Het |
| Tas2r122 |
A |
G |
6: 132,688,578 (GRCm39) |
V105A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,661 (GRCm39) |
E1763G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,018,624 (GRCm39) |
N1261S |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,055,889 (GRCm39) |
S750P |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,519,786 (GRCm39) |
T568A |
probably benign |
Het |
| Zfp319 |
T |
A |
8: 96,055,721 (GRCm39) |
I161F |
possibly 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 |
|
IGL03351:Mmp2
|
APN |
8 |
93,565,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation