Incidental Mutation 'R2099:Mmp3'
| ID |
233245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp3
|
| Ensembl Gene |
ENSMUSG00000043613 |
| Gene Name |
matrix metallopeptidase 3 |
| Synonyms |
Stmy1, SLN-1, Str1, stromelysin 1, STR-1, stromelysin-1, SLN1, progelatinase |
| MMRRC Submission |
040103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R2099 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7445822-7455975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7453672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 431
(D431G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034497]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034497
AA Change: D431G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: D431G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
29 |
89 |
1.7e-12 |
PFAM |
|
ZnMc
|
107 |
267 |
6.24e-65 |
SMART |
|
HX
|
298 |
340 |
4.56e-9 |
SMART |
|
HX
|
342 |
385 |
2.87e-6 |
SMART |
|
HX
|
390 |
437 |
4.73e-16 |
SMART |
|
HX
|
439 |
479 |
3.3e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| 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 protein is activated by the removal of an N-temrinal activation peptide to generate a zinc-dependent endopeptidase with a broad range of substrates such as proteoglycans, laminin, fibronectin, elastin, and collagens. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disrutptions in this gene display abnormalities of the immune system as well as minor structural abnormalities in the neuromuscular junction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,817,820 (GRCm39) |
R14Q |
unknown |
Het |
| Aga |
C |
A |
8: 53,974,166 (GRCm39) |
Y286* |
probably null |
Het |
| Anks1 |
T |
C |
17: 28,197,465 (GRCm39) |
|
probably null |
Het |
| Arih2 |
A |
T |
9: 108,493,937 (GRCm39) |
F159I |
probably damaging |
Het |
| Asxl1 |
A |
T |
2: 153,194,187 (GRCm39) |
M46L |
possibly damaging |
Het |
| Atp23 |
G |
T |
10: 126,727,595 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
T |
A |
13: 24,357,650 (GRCm39) |
L66F |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,192,059 (GRCm39) |
V1027A |
probably benign |
Het |
| Cx3cr1 |
G |
A |
9: 119,881,339 (GRCm39) |
A21V |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,616,403 (GRCm39) |
F221S |
probably damaging |
Het |
| Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,384,063 (GRCm39) |
D1051G |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,768,429 (GRCm39) |
E958G |
possibly damaging |
Het |
| Eif3a |
C |
A |
19: 60,752,551 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
T |
C |
4: 136,388,066 (GRCm39) |
D678G |
probably damaging |
Het |
| Fpr3 |
G |
T |
17: 18,191,443 (GRCm39) |
R238L |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,342,488 (GRCm39) |
S1594G |
probably benign |
Het |
| Gbp4 |
A |
C |
5: 105,268,947 (GRCm39) |
L402W |
probably damaging |
Het |
| Gdpd5 |
T |
A |
7: 99,097,696 (GRCm39) |
L164Q |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,487,616 (GRCm39) |
|
probably null |
Het |
| Kcp |
G |
T |
6: 29,496,164 (GRCm39) |
C723* |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,284,486 (GRCm39) |
F2L |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,630,185 (GRCm39) |
D633E |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,186,732 (GRCm39) |
I79V |
probably benign |
Het |
| Mcrs1 |
A |
G |
15: 99,147,827 (GRCm39) |
S27P |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,634,649 (GRCm39) |
Y2423* |
probably null |
Het |
| Ndc80 |
A |
T |
17: 71,811,773 (GRCm39) |
D484E |
probably benign |
Het |
| Ndufb8 |
T |
A |
19: 44,543,749 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
A |
T |
11: 55,931,589 (GRCm39) |
S41T |
probably benign |
Het |
| Notch2 |
T |
C |
3: 98,022,637 (GRCm39) |
C819R |
possibly damaging |
Het |
| Or10d3 |
A |
G |
9: 39,461,963 (GRCm39) |
V68A |
probably benign |
Het |
| Or4f7 |
A |
G |
2: 111,644,177 (GRCm39) |
I298T |
probably benign |
Het |
| Or6c35 |
A |
T |
10: 129,169,152 (GRCm39) |
N134I |
probably damaging |
Het |
| Pheta1 |
C |
T |
5: 121,991,349 (GRCm39) |
P237L |
possibly damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Samd7 |
T |
C |
3: 30,810,709 (GRCm39) |
V242A |
probably benign |
Het |
| Sde2 |
T |
C |
1: 180,693,713 (GRCm39) |
L401P |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,049,758 (GRCm39) |
D340G |
probably benign |
Het |
| Slc2a5 |
T |
A |
4: 150,227,634 (GRCm39) |
Y484* |
probably null |
Het |
| Spata31d1a |
A |
G |
13: 59,853,885 (GRCm39) |
L27P |
probably damaging |
Het |
| Sqstm1 |
T |
C |
11: 50,093,811 (GRCm39) |
T269A |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,026,747 (GRCm39) |
V3525A |
probably benign |
Het |
| Tctn1 |
G |
A |
5: 122,380,772 (GRCm39) |
P512L |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,082,411 (GRCm39) |
F722S |
probably damaging |
Het |
| Treh |
A |
G |
9: 44,595,943 (GRCm39) |
Y376C |
probably damaging |
Het |
| Trim47 |
T |
C |
11: 115,997,170 (GRCm39) |
N529S |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,719,049 (GRCm39) |
V184A |
possibly damaging |
Het |
| Tyrp1 |
T |
A |
4: 80,753,616 (GRCm39) |
N102K |
possibly damaging |
Het |
| Uspl1 |
T |
A |
5: 149,151,568 (GRCm39) |
S724T |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,474 (GRCm39) |
K702N |
probably damaging |
Het |
| Zfp267 |
C |
T |
3: 36,218,361 (GRCm39) |
T128I |
possibly damaging |
Het |
|
| Other mutations in Mmp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00579:Mmp3
|
APN |
9 |
7,445,894 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01738:Mmp3
|
APN |
9 |
7,446,946 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02154:Mmp3
|
APN |
9 |
7,453,662 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02212:Mmp3
|
APN |
9 |
7,450,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02568:Mmp3
|
APN |
9 |
7,446,001 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03366:Mmp3
|
APN |
9 |
7,450,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0047:Mmp3
|
UTSW |
9 |
7,451,910 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Mmp3
|
UTSW |
9 |
7,451,910 (GRCm39) |
splice site |
probably benign |
|
|
R0356:Mmp3
|
UTSW |
9 |
7,451,768 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0390:Mmp3
|
UTSW |
9 |
7,451,320 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0401:Mmp3
|
UTSW |
9 |
7,449,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:Mmp3
|
UTSW |
9 |
7,450,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0549:Mmp3
|
UTSW |
9 |
7,455,638 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0903:Mmp3
|
UTSW |
9 |
7,445,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1438:Mmp3
|
UTSW |
9 |
7,453,705 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1498:Mmp3
|
UTSW |
9 |
7,446,967 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1515:Mmp3
|
UTSW |
9 |
7,451,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1629:Mmp3
|
UTSW |
9 |
7,447,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1844:Mmp3
|
UTSW |
9 |
7,453,662 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1858:Mmp3
|
UTSW |
9 |
7,451,799 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2497:Mmp3
|
UTSW |
9 |
7,450,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2571:Mmp3
|
UTSW |
9 |
7,451,844 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4659:Mmp3
|
UTSW |
9 |
7,453,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4687:Mmp3
|
UTSW |
9 |
7,451,223 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4717:Mmp3
|
UTSW |
9 |
7,449,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4930:Mmp3
|
UTSW |
9 |
7,447,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4932:Mmp3
|
UTSW |
9 |
7,446,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5020:Mmp3
|
UTSW |
9 |
7,445,984 (GRCm39) |
missense |
probably benign |
|
|
R5384:Mmp3
|
UTSW |
9 |
7,451,759 (GRCm39) |
nonsense |
probably null |
|
|
R5385:Mmp3
|
UTSW |
9 |
7,451,759 (GRCm39) |
nonsense |
probably null |
|
|
R5408:Mmp3
|
UTSW |
9 |
7,449,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6268:Mmp3
|
UTSW |
9 |
7,447,622 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7317:Mmp3
|
UTSW |
9 |
7,446,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Mmp3
|
UTSW |
9 |
7,450,125 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7467:Mmp3
|
UTSW |
9 |
7,447,621 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8101:Mmp3
|
UTSW |
9 |
7,446,985 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9098:Mmp3
|
UTSW |
9 |
7,446,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Mmp3
|
UTSW |
9 |
7,451,256 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
X0022:Mmp3
|
UTSW |
9 |
7,449,857 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGCCATGTATGTGCAG -3'
(R):5'- TGAGTCAAAGCAGCTCACCC -3'
Sequencing Primer
(F):5'- GCCATGTATGTGCAGAACTTG -3'
(R):5'- AGAGCTGCAATGGCCAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation