Incidental Mutation 'R2882:Mmp12'
| ID | 260349 |
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| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Mmp12
|
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| Ensembl Gene |
ENSMUSG00000049723 |
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| Gene Name | matrix metallopeptidase 12 |
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| Synonyms | Mmel, macrophage elastase, MMP12 |
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| MMRRC Submission |
040470-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Probably non essential (E-score: 0.163)
|
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| Stock # | R2882 (G1)
|
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| Quality Score | 225 |
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| Status |
Not validated
|
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| Chromosome | 9 |
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| Chromosomal Location | 7344381-7369499 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
A to G
at 7358236 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Tyrosine to Cysteine
at position 374
(Y374C)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000114129
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005950]
[ENSMUST00000065079]
[ENSMUST00000120655]
[ENSMUST00000127722]
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005950
AA Change: Y444C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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| SMART Domains |
Protein: ENSMUSP00000005950
Gene: ENSMUSG00000049723
AA Change: Y444C
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000065079
|
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| 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 |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120655
AA Change: Y374C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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| SMART Domains |
Protein: ENSMUSP00000114129
Gene: ENSMUSG00000049723
AA Change: Y374C
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000127722
|
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| SMART Domains |
Protein: ENSMUSP00000120225
Gene: ENSMUSG00000049723
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148005
|
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| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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| Validation Efficiency |
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700014D04Rik |
C |
A |
13: 59,742,943 |
Q354H |
probably benign |
Het |
| AF529169 |
C |
T |
9: 89,602,802 |
V181I |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,706,214 |
Y7C |
probably damaging |
Het |
| Atxn3 |
C |
A |
12: 101,937,411 |
L178F |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,519,212 |
S211P |
possibly damaging |
Het |
| Csl |
A |
G |
10: 99,758,925 |
F93L |
probably damaging |
Het |
| Cyp4f40 |
A |
G |
17: 32,668,073 |
I173V |
probably benign |
Het |
| Dcaf17 |
A |
G |
2: 71,082,027 |
I319V |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 67,839,620 |
Y258C |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,445,203 |
E236G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 119,065,030 |
D631G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,078,523 |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,311,305 |
L314F |
probably damaging |
Het |
| Gsdmc |
T |
C |
15: 63,779,795 |
I259V |
probably benign |
Het |
| Hydin |
C |
T |
8: 110,566,923 |
L3501F |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,331,184 |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,377,863 |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,201,791 |
|
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,267,566 |
H615Q |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 102,064,633 |
E97G |
probably benign |
Het |
| Oasl2 |
C |
T |
5: 114,911,023 |
R175C |
probably damaging |
Het |
| Olfr348 |
A |
T |
2: 36,787,190 |
I222F |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,145,812 |
Q615L |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,941,334 |
Y502N |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 123,239,372 |
|
probably null |
Het |
| Tex15 |
T |
A |
8: 33,574,907 |
L1455* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 130,137,439 |
V163A |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,973,893 |
T240M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,579,501 |
I785T |
possibly damaging |
Het |
|
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| Other mutations in Mmp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01510:Mmp12
|
APN |
9 |
7358307 |
missense |
possibly damaging |
0.57 |
|
IGL03047:Mmp12
|
APN |
9 |
7357797 |
splice site |
probably benign |
|
|
IGL03224:Mmp12
|
APN |
9 |
7350002 |
unclassified |
probably benign |
|
|
IGL03247:Mmp12
|
APN |
9 |
7348631 |
missense |
probably benign |
0.05 |
|
R0050:Mmp12
|
UTSW |
9 |
7350152 |
unclassified |
probably benign |
|
|
R0480:Mmp12
|
UTSW |
9 |
7350016 |
missense |
probably damaging |
1.00 |
|
R0729:Mmp12
|
UTSW |
9 |
7358290 |
missense |
possibly damaging |
0.82 |
|
R0800:Mmp12
|
UTSW |
9 |
7357827 |
missense |
possibly damaging |
0.74 |
|
R1114:Mmp12
|
UTSW |
9 |
7358289 |
missense |
possibly damaging |
0.69 |
|
R1441:Mmp12
|
UTSW |
9 |
7354787 |
missense |
probably damaging |
0.98 |
|
R1765:Mmp12
|
UTSW |
9 |
7354772 |
missense |
probably damaging |
1.00 |
|
R2071:Mmp12
|
UTSW |
9 |
7349725 |
missense |
probably damaging |
1.00 |
|
R2102:Mmp12
|
UTSW |
9 |
7349802 |
missense |
probably damaging |
1.00 |
|
R2936:Mmp12
|
UTSW |
9 |
7357819 |
missense |
probably benign |
|
|
R4645:Mmp12
|
UTSW |
9 |
7347515 |
missense |
probably benign |
0.04 |
|
R5210:Mmp12
|
UTSW |
9 |
7349729 |
nonsense |
probably null |
|
|
R5499:Mmp12
|
UTSW |
9 |
7353000 |
missense |
probably benign |
0.02 |
|
R5774:Mmp12
|
UTSW |
9 |
7354823 |
missense |
possibly damaging |
0.84 |
|
R5778:Mmp12
|
UTSW |
9 |
7350106 |
missense |
probably damaging |
1.00 |
|
R5841:Mmp12
|
UTSW |
9 |
7347501 |
missense |
possibly damaging |
0.93 |
|
R5869:Mmp12
|
UTSW |
9 |
7348446 |
intron |
probably benign |
|
|
R6044:Mmp12
|
UTSW |
9 |
7350050 |
missense |
possibly damaging |
0.94 |
|
R6494:Mmp12
|
UTSW |
9 |
7353479 |
missense |
probably damaging |
0.99 |
|
R6651:Mmp12
|
UTSW |
9 |
7355345 |
missense |
possibly damaging |
0.62 |
|
R7057:Mmp12
|
UTSW |
9 |
7357840 |
missense |
probably damaging |
1.00 |
|
R7057:Mmp12
|
UTSW |
9 |
7369173 |
missense |
probably benign |
0.33 |
|
X0062:Mmp12
|
UTSW |
9 |
7353013 |
missense |
probably damaging |
0.97 |
|
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| Predicted Primers |
PCR Primer
(F):5'- TGAGCCTGAGAAAAGTTGCC -3'
(R):5'- GCCACATAGTTACACCCTGAGC -3'
Sequencing Primer
(F):5'- GAAAAGTTGCCTGTCAGTGTCAC -3'
(R):5'- CATAGTTACACCCTGAGCATAGAGTG -3'
|
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| Posted On | 2015-01-23 |
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