Incidental Mutation 'R0763:Mmp15'
ID |
72516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmp15
|
Ensembl Gene |
ENSMUSG00000031790 |
Gene Name |
matrix metallopeptidase 15 |
Synonyms |
MT2-MMP, Membrane type 2-MMP |
MMRRC Submission |
038943-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
96078924-96100921 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 96094856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 243
(D243E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034243
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034243]
|
AlphaFold |
O54732 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034243
AA Change: D243E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000034243 Gene: ENSMUSG00000031790 AA Change: D243E
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 |
0.0970 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 93.8%
|
Validation Efficiency |
96% (52/54) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
C |
6: 88,815,261 (GRCm39) |
F290V |
probably damaging |
Het |
Adam26b |
G |
A |
8: 43,973,601 (GRCm39) |
S467L |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,647,244 (GRCm39) |
I3099F |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,188,997 (GRCm39) |
D2137G |
possibly damaging |
Het |
Arhgdig |
T |
C |
17: 26,419,275 (GRCm39) |
Y48C |
probably damaging |
Het |
Astn1 |
A |
G |
1: 158,337,460 (GRCm39) |
I389V |
possibly damaging |
Het |
Atp8a1 |
T |
C |
5: 67,817,226 (GRCm39) |
D920G |
probably benign |
Het |
BC016579 |
T |
A |
16: 45,449,818 (GRCm39) |
N200I |
probably damaging |
Het |
Casc3 |
T |
C |
11: 98,722,144 (GRCm39) |
Y661H |
probably damaging |
Het |
Cep120 |
A |
C |
18: 53,854,809 (GRCm39) |
V442G |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,943,841 (GRCm39) |
Y1557H |
probably damaging |
Het |
Chd2 |
G |
T |
7: 73,097,022 (GRCm39) |
Q1485K |
possibly damaging |
Het |
Cntrl |
T |
C |
2: 35,061,078 (GRCm39) |
F1967L |
probably benign |
Het |
Csmd1 |
G |
A |
8: 17,077,300 (GRCm39) |
T119M |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 66,046,356 (GRCm39) |
H64R |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,813,703 (GRCm39) |
R2899G |
probably damaging |
Het |
Foxl2 |
A |
C |
9: 98,838,086 (GRCm39) |
T125P |
probably damaging |
Het |
Foxred1 |
A |
T |
9: 35,118,769 (GRCm39) |
|
probably null |
Het |
H2-Eb1 |
T |
A |
17: 34,533,133 (GRCm39) |
|
probably benign |
Het |
Heatr3 |
T |
C |
8: 88,884,869 (GRCm39) |
S378P |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,445,096 (GRCm39) |
|
probably benign |
Het |
Hps3 |
T |
G |
3: 20,057,443 (GRCm39) |
R780S |
probably damaging |
Het |
Ifi44 |
G |
A |
3: 151,455,135 (GRCm39) |
A30V |
probably damaging |
Het |
Il12rb1 |
G |
A |
8: 71,265,934 (GRCm39) |
|
probably benign |
Het |
Invs |
G |
A |
4: 48,392,628 (GRCm39) |
G281R |
possibly damaging |
Het |
Itgax |
C |
A |
7: 127,747,112 (GRCm39) |
|
probably benign |
Het |
Jade1 |
G |
T |
3: 41,568,218 (GRCm39) |
C762F |
possibly damaging |
Het |
Lama1 |
C |
T |
17: 68,079,813 (GRCm39) |
P1229S |
probably damaging |
Het |
Mug2 |
A |
G |
6: 122,052,253 (GRCm39) |
T1004A |
probably benign |
Het |
Myh14 |
A |
T |
7: 44,314,791 (GRCm39) |
V44E |
probably damaging |
Het |
N4bp2l1 |
C |
A |
5: 150,517,869 (GRCm39) |
R11S |
possibly damaging |
Het |
Notch4 |
T |
A |
17: 34,784,306 (GRCm39) |
C36* |
probably null |
Het |
Nwd1 |
A |
G |
8: 73,397,672 (GRCm39) |
D637G |
probably damaging |
Het |
Ogfod1 |
T |
C |
8: 94,782,264 (GRCm39) |
I238T |
probably benign |
Het |
Pakap |
G |
A |
4: 57,688,441 (GRCm39) |
E95K |
probably damaging |
Het |
Papln |
A |
G |
12: 83,838,639 (GRCm39) |
D1256G |
possibly damaging |
Het |
Ppp1r26 |
T |
C |
2: 28,340,379 (GRCm39) |
L3P |
probably damaging |
Het |
Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
Slc17a5 |
A |
T |
9: 78,460,372 (GRCm39) |
|
probably benign |
Het |
Slc25a17 |
A |
G |
15: 81,207,907 (GRCm39) |
|
probably benign |
Het |
Socs4 |
T |
C |
14: 47,528,112 (GRCm39) |
F349S |
probably damaging |
Het |
Spata31f1a |
A |
G |
4: 42,851,238 (GRCm39) |
V306A |
probably damaging |
Het |
Tchhl1 |
A |
C |
3: 93,378,878 (GRCm39) |
E527D |
probably benign |
Het |
Tm7sf3 |
A |
G |
6: 146,507,787 (GRCm39) |
L425S |
possibly damaging |
Het |
Tmem266 |
G |
T |
9: 55,322,239 (GRCm39) |
V112L |
probably damaging |
Het |
Tmem30c |
T |
A |
16: 57,090,539 (GRCm39) |
I223F |
possibly damaging |
Het |
Tomm70a |
G |
A |
16: 56,942,535 (GRCm39) |
G104D |
probably benign |
Het |
Ttc17 |
G |
T |
2: 94,163,148 (GRCm39) |
A834E |
probably benign |
Het |
Ttn |
C |
T |
2: 76,561,534 (GRCm39) |
V20664M |
probably damaging |
Het |
Zbed5 |
T |
C |
5: 129,931,020 (GRCm39) |
V323A |
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 |
R0574:Mmp15
|
UTSW |
8 |
96,092,029 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0685:Mmp15
|
UTSW |
8 |
96,098,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
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'- ATGACATTCGGCTACGAAGGCG -3'
(R):5'- CGGGAAGGCATATTCAGTCACTCC -3'
Sequencing Primer
(F):5'- GAGCGGAGGCTGACATC -3'
(R):5'- tccccttctcttcccacc -3'
|
Posted On |
2013-09-30 |