Incidental Mutation 'R0574:Mmp15'
| ID |
46576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp15
|
| Ensembl Gene |
ENSMUSG00000031790 |
| Gene Name |
matrix metallopeptidase 15 |
| Synonyms |
MT2-MMP, Membrane type 2-MMP |
| MMRRC Submission |
038764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0574 (G1)
|
| Quality Score |
196 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
96078924-96100921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96092029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 80
(A80T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034243]
|
| AlphaFold |
O54732 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034243
AA Change: A80T
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: A80T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
42 |
102 |
3.2e-13 |
PFAM |
|
ZnMc
|
131 |
301 |
5.31e-59 |
SMART |
|
low complexity region
|
306 |
353 |
N/A |
INTRINSIC |
|
HX
|
370 |
413 |
5.92e-8 |
SMART |
|
HX
|
415 |
459 |
2.31e-10 |
SMART |
|
HX
|
462 |
508 |
2.98e-13 |
SMART |
|
HX
|
510 |
555 |
2.01e-10 |
SMART |
|
Pfam:DUF3377
|
586 |
657 |
1.2e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212235
|
| Meta Mutation Damage Score |
0.1805 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
100% (34/34) |
| 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. A deficiency of the encoded protein in mice is compatible with normal development and postnatal growth. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
| Actrt3 |
T |
C |
3: 30,653,829 (GRCm39) |
E57G |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
| Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,525 (GRCm39) |
L199Q |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,670,888 (GRCm39) |
S587P |
probably benign |
Het |
| Nfkbib |
C |
T |
7: 28,461,213 (GRCm39) |
V145I |
probably benign |
Het |
| Or1o3 |
G |
T |
17: 37,573,772 (GRCm39) |
S261Y |
probably damaging |
Het |
| Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,883 (GRCm39) |
C32S |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
| Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
| Stx8 |
C |
T |
11: 67,864,078 (GRCm39) |
T46M |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,492,547 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
| Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,663 (GRCm39) |
I52M |
probably benign |
Het |
|
| Other mutations in Mmp15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01467:Mmp15
|
APN |
8 |
96,092,959 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL03001:Mmp15
|
APN |
8 |
96,094,845 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0147:Mmp15
|
UTSW |
8 |
96,098,945 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0148:Mmp15
|
UTSW |
8 |
96,098,945 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0437:Mmp15
|
UTSW |
8 |
96,097,400 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0465:Mmp15
|
UTSW |
8 |
96,094,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0548:Mmp15
|
UTSW |
8 |
96,098,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Mmp15
|
UTSW |
8 |
96,098,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0763:Mmp15
|
UTSW |
8 |
96,094,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1341:Mmp15
|
UTSW |
8 |
96,098,931 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1428:Mmp15
|
UTSW |
8 |
96,096,190 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1840:Mmp15
|
UTSW |
8 |
96,092,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Mmp15
|
UTSW |
8 |
96,097,407 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2219:Mmp15
|
UTSW |
8 |
96,096,801 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4760:Mmp15
|
UTSW |
8 |
96,094,824 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4762:Mmp15
|
UTSW |
8 |
96,098,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5233:Mmp15
|
UTSW |
8 |
96,097,696 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5394:Mmp15
|
UTSW |
8 |
96,093,032 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5502:Mmp15
|
UTSW |
8 |
96,094,812 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5543:Mmp15
|
UTSW |
8 |
96,094,729 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6027:Mmp15
|
UTSW |
8 |
96,098,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6341:Mmp15
|
UTSW |
8 |
96,092,091 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6720:Mmp15
|
UTSW |
8 |
96,091,942 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7788:Mmp15
|
UTSW |
8 |
96,094,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8033:Mmp15
|
UTSW |
8 |
96,094,590 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8679:Mmp15
|
UTSW |
8 |
96,092,982 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8791:Mmp15
|
UTSW |
8 |
96,096,288 (GRCm39) |
nonsense |
probably null |
|
|
R9028:Mmp15
|
UTSW |
8 |
96,096,316 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9227:Mmp15
|
UTSW |
8 |
96,092,959 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9230:Mmp15
|
UTSW |
8 |
96,092,959 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9350:Mmp15
|
UTSW |
8 |
96,093,002 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9632:Mmp15
|
UTSW |
8 |
96,098,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9695:Mmp15
|
UTSW |
8 |
96,097,414 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATAGTGTACCAGTCGGCAGGATG -3'
(R):5'- CCAGGCCACTCTCCTCTGAAAATG -3'
Sequencing Primer
(F):5'- CTTTATAGGCCCCGGAAGAACTG -3'
(R):5'- TGTCATATACCAAAGGCTCCTCAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation