Incidental Mutation 'R1441:Mmp12'
| ID |
161013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp12
|
| Ensembl Gene |
ENSMUSG00000049723 |
| Gene Name |
matrix metallopeptidase 12 |
| Synonyms |
MMP12, Mmel, macrophage elastase |
| MMRRC Submission |
039496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R1441 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
7344397-7360461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 7354787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 330
(P330L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005950]
[ENSMUST00000065079]
[ENSMUST00000120655]
[ENSMUST00000127722]
[ENSMUST00000150167]
|
| AlphaFold |
P34960 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005950
AA Change: P330L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005950
Gene: ENSMUSG00000049723
AA Change: P330L
| 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 |
probably damaging
Transcript: ENSMUST00000120655
AA Change: P260L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114129
Gene: ENSMUSG00000049723
AA Change: P260L
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150167
|
| SMART Domains |
Protein: ENSMUSP00000116080
Gene: ENSMUSG00000049723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
1 |
21 |
7.3e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| 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. 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,481,194 (GRCm39) |
|
probably null |
Het |
| Ankrd16 |
T |
C |
2: 11,783,557 (GRCm39) |
L53P |
probably damaging |
Het |
| Arsk |
A |
T |
13: 76,223,083 (GRCm39) |
N171K |
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,867,351 (GRCm39) |
C161W |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,249,402 (GRCm39) |
N53S |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,642,515 (GRCm39) |
V403E |
probably benign |
Het |
| Ccdc83 |
T |
A |
7: 89,893,351 (GRCm39) |
E135D |
probably damaging |
Het |
| Ccser1 |
C |
T |
6: 62,357,016 (GRCm39) |
T818I |
probably benign |
Het |
| Cd44 |
T |
A |
2: 102,676,763 (GRCm39) |
T301S |
probably damaging |
Het |
| Eepd1 |
G |
A |
9: 25,394,499 (GRCm39) |
M254I |
probably benign |
Het |
| Ephb4 |
C |
T |
5: 137,359,509 (GRCm39) |
R360C |
probably damaging |
Het |
| Fam149a |
G |
T |
8: 45,808,684 (GRCm39) |
Q150K |
probably damaging |
Het |
| G6pc2 |
G |
A |
2: 69,051,198 (GRCm39) |
C97Y |
probably damaging |
Het |
| Gcsam |
T |
A |
16: 45,433,401 (GRCm39) |
M15K |
probably benign |
Het |
| Impdh2 |
C |
A |
9: 108,441,975 (GRCm39) |
T201K |
probably benign |
Het |
| Kdm2b |
C |
T |
5: 123,070,943 (GRCm39) |
E379K |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,497,940 (GRCm39) |
N514K |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,169,353 (GRCm39) |
D676G |
possibly damaging |
Het |
| Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,356,225 (GRCm39) |
H1130R |
possibly damaging |
Het |
| Ninl |
C |
A |
2: 150,813,044 (GRCm39) |
G204V |
probably benign |
Het |
| Or12k5 |
C |
A |
2: 36,895,131 (GRCm39) |
R165L |
possibly damaging |
Het |
| Or2a54 |
T |
C |
6: 43,092,880 (GRCm39) |
V68A |
probably benign |
Het |
| Or4k51 |
T |
C |
2: 111,585,347 (GRCm39) |
F251S |
probably damaging |
Het |
| Or5ac20 |
G |
A |
16: 59,104,228 (GRCm39) |
L211F |
probably benign |
Het |
| Or5an11 |
T |
A |
19: 12,245,750 (GRCm39) |
L52* |
probably null |
Het |
| Or8c15 |
T |
C |
9: 38,120,777 (GRCm39) |
C141R |
probably damaging |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Pip4p2 |
A |
T |
4: 14,892,477 (GRCm39) |
I114L |
possibly damaging |
Het |
| Ptpn22 |
G |
T |
3: 103,781,563 (GRCm39) |
W114L |
probably damaging |
Het |
| Rasa1 |
C |
T |
13: 85,400,540 (GRCm39) |
|
probably null |
Het |
| Rbks |
C |
T |
5: 31,817,341 (GRCm39) |
V143I |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,269,241 (GRCm39) |
F515L |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,180 (GRCm39) |
T518A |
probably benign |
Het |
| Rpusd4 |
C |
A |
9: 35,184,065 (GRCm39) |
A240E |
probably damaging |
Het |
| Rufy3 |
T |
C |
5: 88,780,374 (GRCm39) |
L374P |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,618,935 (GRCm39) |
S299P |
probably damaging |
Het |
| Slc7a12 |
T |
G |
3: 14,562,414 (GRCm39) |
S264A |
possibly damaging |
Het |
| Tasor |
T |
A |
14: 27,186,217 (GRCm39) |
C805* |
probably null |
Het |
| Tm9sf1 |
T |
C |
14: 55,873,782 (GRCm39) |
Y572C |
probably damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,813,871 (GRCm39) |
S475L |
probably benign |
Het |
| Trim17 |
A |
G |
11: 58,856,018 (GRCm39) |
D25G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,572,121 (GRCm39) |
K26257N |
probably damaging |
Het |
| Txndc11 |
C |
A |
16: 10,952,414 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
| Vmn2r58 |
G |
A |
7: 41,486,864 (GRCm39) |
T677I |
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 |
|
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 |
|
R6651:Mmp12
|
UTSW |
9 |
7,355,345 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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'- GACTTGAACTGTAGATCCACGAGGC -3'
(R):5'- TGTCACTGAGTCATGTCACCCCAC -3'
Sequencing Primer
(F):5'- GTAGATCCACGAGGCTCAGAC -3'
(R):5'- tcatgtcaccccACACTGTTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation