Incidental Mutation 'R6651:Mmp12'
| ID |
527792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp12
|
| Ensembl Gene |
ENSMUSG00000049723 |
| Gene Name |
matrix metallopeptidase 12 |
| Synonyms |
MMP12, Mmel, macrophage elastase |
| MMRRC Submission |
044772-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R6651 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
7344397-7360461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 7355345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 294
(P294Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005950]
[ENSMUST00000065079]
[ENSMUST00000120655]
[ENSMUST00000127722]
|
| AlphaFold |
P34960 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005950
AA Change: P364Q
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000005950
Gene: ENSMUSG00000049723
AA Change: P364Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
30 |
91 |
7.6e-22 |
PFAM |
|
ZnMc
|
109 |
268 |
2.76e-57 |
SMART |
|
low complexity region
|
269 |
284 |
N/A |
INTRINSIC |
|
HX
|
292 |
334 |
1.44e-6 |
SMART |
|
HX
|
336 |
379 |
2.03e-6 |
SMART |
|
HX
|
384 |
431 |
2.29e-14 |
SMART |
|
HX
|
433 |
473 |
2.94e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065079
|
| SMART Domains |
Protein: ENSMUSP00000065291
Gene: ENSMUSG00000049723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
30 |
91 |
6.5e-22 |
PFAM |
|
ZnMc
|
109 |
268 |
1.23e-54 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120655
AA Change: P294Q
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114129
Gene: ENSMUSG00000049723
AA Change: P294Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
1 |
21 |
9.1e-9 |
PFAM |
|
ZnMc
|
39 |
198 |
2.76e-57 |
SMART |
|
low complexity region
|
199 |
214 |
N/A |
INTRINSIC |
|
HX
|
222 |
264 |
1.44e-6 |
SMART |
|
HX
|
266 |
309 |
2.03e-6 |
SMART |
|
HX
|
314 |
361 |
2.29e-14 |
SMART |
|
HX
|
363 |
403 |
2.94e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127722
|
| SMART Domains |
Protein: ENSMUSP00000120225
Gene: ENSMUSG00000049723
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148005
|
| Meta Mutation Damage Score |
0.1211 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (50/51) |
| 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. Mice lacking the encoded protein have a diminished capacity to degrade extracellular matrix components, do not develop emphysema in response to long-term exposure to cigarette smoke, and exhibit impaired clearance and increased mortality upon bacterial infection. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to cigarette smoke, decreased littler size, abnormal myelination, abnormal macrophage physiology, and decreased oligodedrocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
C |
7: 43,147,496 (GRCm39) |
S198A |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,448 (GRCm39) |
I29N |
probably damaging |
Het |
| Ankrd61 |
A |
T |
5: 143,830,438 (GRCm39) |
I33N |
probably damaging |
Het |
| Arl6ip1 |
C |
T |
7: 117,728,708 (GRCm39) |
R7H |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,011,470 (GRCm39) |
D946E |
probably benign |
Het |
| Cc2d2b |
A |
T |
19: 40,766,573 (GRCm39) |
Q114L |
probably damaging |
Het |
| Ccdc163 |
T |
A |
4: 116,566,261 (GRCm39) |
S16R |
possibly damaging |
Het |
| Chil6 |
C |
T |
3: 106,311,576 (GRCm39) |
C68Y |
probably damaging |
Het |
| Cngb3 |
G |
T |
4: 19,375,231 (GRCm39) |
R287L |
probably benign |
Het |
| Crem |
C |
T |
18: 3,325,428 (GRCm39) |
R16H |
probably benign |
Het |
| Cyp4f16 |
C |
T |
17: 32,763,118 (GRCm39) |
R188C |
probably benign |
Het |
| Dap |
A |
G |
15: 31,273,353 (GRCm39) |
D46G |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,650,776 (GRCm39) |
Y687H |
probably damaging |
Het |
| Fzd4 |
A |
T |
7: 89,054,010 (GRCm39) |
D39V |
possibly damaging |
Het |
| Ggta1 |
G |
T |
2: 35,292,306 (GRCm39) |
H334N |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,365,996 (GRCm39) |
R1254* |
probably null |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,881,350 (GRCm39) |
W377* |
probably null |
Het |
| Hfm1 |
T |
C |
5: 106,995,553 (GRCm39) |
D1286G |
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,613,768 (GRCm39) |
R425G |
probably damaging |
Het |
| Hivep3 |
G |
A |
4: 119,980,146 (GRCm39) |
R1728H |
probably damaging |
Het |
| Hyal1 |
A |
G |
9: 107,456,570 (GRCm39) |
Y419C |
probably damaging |
Het |
| Ighv8-12 |
A |
T |
12: 115,611,644 (GRCm39) |
D84E |
possibly damaging |
Het |
| Itln1 |
A |
G |
1: 171,345,940 (GRCm39) |
F271L |
possibly damaging |
Het |
| Klra7 |
C |
A |
6: 130,206,908 (GRCm39) |
L64F |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,740,108 (GRCm39) |
C1878* |
probably null |
Het |
| Mia2 |
C |
A |
12: 59,201,148 (GRCm39) |
Q825K |
possibly damaging |
Het |
| Nedd4 |
A |
G |
9: 72,638,553 (GRCm39) |
N480S |
possibly damaging |
Het |
| Or4c12b |
A |
T |
2: 89,647,240 (GRCm39) |
E190V |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Pax6 |
T |
A |
2: 105,516,175 (GRCm39) |
M151K |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,269,437 (GRCm39) |
Y508C |
probably benign |
Het |
| Ptpn20 |
T |
C |
14: 33,354,897 (GRCm39) |
F324S |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,310,160 (GRCm39) |
|
probably null |
Het |
| Rerg |
A |
G |
6: 137,033,384 (GRCm39) |
V97A |
probably damaging |
Het |
| Rffl |
C |
A |
11: 82,703,605 (GRCm39) |
C106F |
probably damaging |
Het |
| Scaper |
T |
G |
9: 55,765,788 (GRCm39) |
N499T |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Slc36a4 |
A |
G |
9: 15,634,874 (GRCm39) |
S139G |
probably benign |
Het |
| Slco2b1 |
T |
A |
7: 99,316,376 (GRCm39) |
M385L |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,977,372 (GRCm39) |
T70A |
probably benign |
Het |
| Spats2l |
A |
T |
1: 57,985,336 (GRCm39) |
K463M |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,893,044 (GRCm39) |
I715V |
probably benign |
Het |
| Tmem234 |
T |
A |
4: 129,501,264 (GRCm39) |
M113K |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,488 (GRCm39) |
I821V |
probably null |
Het |
| Vmn2r116 |
A |
T |
17: 23,607,805 (GRCm39) |
K458* |
probably null |
Het |
| Vmn2r76 |
T |
A |
7: 85,878,059 (GRCm39) |
N446I |
possibly damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,622 (GRCm39) |
Y345N |
probably damaging |
Het |
|
| Other mutations in Mmp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01510:Mmp12
|
APN |
9 |
7,358,307 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03047:Mmp12
|
APN |
9 |
7,357,797 (GRCm39) |
splice site |
probably benign |
|
|
IGL03224:Mmp12
|
APN |
9 |
7,350,002 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03247:Mmp12
|
APN |
9 |
7,348,631 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0050:Mmp12
|
UTSW |
9 |
7,350,152 (GRCm39) |
unclassified |
probably benign |
|
|
R0480:Mmp12
|
UTSW |
9 |
7,350,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Mmp12
|
UTSW |
9 |
7,358,290 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0800:Mmp12
|
UTSW |
9 |
7,357,827 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1114:Mmp12
|
UTSW |
9 |
7,358,289 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1441:Mmp12
|
UTSW |
9 |
7,354,787 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1765:Mmp12
|
UTSW |
9 |
7,354,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2071:Mmp12
|
UTSW |
9 |
7,349,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Mmp12
|
UTSW |
9 |
7,349,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2882:Mmp12
|
UTSW |
9 |
7,358,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2936:Mmp12
|
UTSW |
9 |
7,357,819 (GRCm39) |
missense |
probably benign |
|
|
R4645:Mmp12
|
UTSW |
9 |
7,347,515 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5210:Mmp12
|
UTSW |
9 |
7,349,729 (GRCm39) |
nonsense |
probably null |
|
|
R5499:Mmp12
|
UTSW |
9 |
7,353,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5774:Mmp12
|
UTSW |
9 |
7,354,823 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5778:Mmp12
|
UTSW |
9 |
7,350,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Mmp12
|
UTSW |
9 |
7,347,501 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5869:Mmp12
|
UTSW |
9 |
7,348,446 (GRCm39) |
intron |
probably benign |
|
|
R6044:Mmp12
|
UTSW |
9 |
7,350,050 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6494:Mmp12
|
UTSW |
9 |
7,353,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7057:Mmp12
|
UTSW |
9 |
7,369,173 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7057:Mmp12
|
UTSW |
9 |
7,357,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8938:Mmp12
|
UTSW |
9 |
7,348,446 (GRCm39) |
intron |
probably benign |
|
|
R9024:Mmp12
|
UTSW |
9 |
7,355,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Mmp12
|
UTSW |
9 |
7,347,516 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0062:Mmp12
|
UTSW |
9 |
7,353,013 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTGACATGACTCAGTGAC -3'
(R):5'- GTGCCTGTCTTACAAATCTTAGC -3'
Sequencing Primer
(F):5'- GAGACCCTACTTTCCATGGATGAAG -3'
(R):5'- AGACAGCTGCATCAACCT -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation