Incidental Mutation 'R1428:Mmp15'
| ID |
161396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp15
|
| Ensembl Gene |
ENSMUSG00000031790 |
| Gene Name |
matrix metallopeptidase 15 |
| Synonyms |
MT2-MMP, Membrane type 2-MMP |
| MMRRC Submission |
039484-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1428 (G1)
|
| Quality Score |
100 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
96078924-96100921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 96096190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 327
(P327R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034243]
|
| AlphaFold |
O54732 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034243
AA Change: P327R
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: P327R
| 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 |
0.1511 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| Abl1 |
G |
T |
2: 31,691,822 (GRCm39) |
A1114S |
probably damaging |
Het |
| Acbd5 |
T |
C |
2: 22,989,733 (GRCm39) |
V452A |
probably damaging |
Het |
| Armc12 |
A |
G |
17: 28,756,910 (GRCm39) |
D225G |
probably damaging |
Het |
| Atad3a |
T |
A |
4: 155,840,139 (GRCm39) |
Q121H |
probably damaging |
Het |
| Atosa |
A |
T |
9: 74,913,603 (GRCm39) |
T79S |
probably benign |
Het |
| Bptf |
T |
A |
11: 106,963,873 (GRCm39) |
I1711F |
probably damaging |
Het |
| C2cd4c |
A |
T |
10: 79,448,064 (GRCm39) |
I361N |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,199,221 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
C |
T |
13: 74,505,034 (GRCm39) |
T194I |
probably benign |
Het |
| Cdc42ep3 |
T |
C |
17: 79,642,465 (GRCm39) |
K152E |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,181,204 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,248,853 (GRCm39) |
Y1801N |
possibly damaging |
Het |
| Crybg1 |
T |
C |
10: 43,851,074 (GRCm39) |
N1599S |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,228,548 (GRCm39) |
V59A |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,183,117 (GRCm39) |
K484E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,411,193 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,005,642 (GRCm39) |
S711P |
probably damaging |
Het |
| Espl1 |
A |
T |
15: 102,214,120 (GRCm39) |
Q649L |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,374,638 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,186,913 (GRCm39) |
Y1311F |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,687 (GRCm39) |
H675L |
possibly damaging |
Het |
| Gins4 |
T |
C |
8: 23,717,144 (GRCm39) |
Y208C |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 37,910,937 (GRCm39) |
V17A |
probably benign |
Het |
| Gykl1 |
A |
T |
18: 52,827,833 (GRCm39) |
K347I |
probably benign |
Het |
| Helz |
T |
A |
11: 107,483,666 (GRCm39) |
|
probably benign |
Het |
| Hivep3 |
C |
T |
4: 119,953,772 (GRCm39) |
T696I |
possibly damaging |
Het |
| Ifi27l2a |
G |
T |
12: 103,409,093 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,944,987 (GRCm39) |
|
probably benign |
Het |
| Kpna3 |
C |
T |
14: 61,620,669 (GRCm39) |
|
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,320,074 (GRCm39) |
T1003S |
probably benign |
Het |
| Mtss1 |
T |
C |
15: 58,819,239 (GRCm39) |
D393G |
probably benign |
Het |
| Olfm4 |
T |
A |
14: 80,258,843 (GRCm39) |
Y331N |
probably damaging |
Het |
| Or10a49 |
T |
A |
7: 108,468,167 (GRCm39) |
N65Y |
probably damaging |
Het |
| Or4c12b |
G |
C |
2: 89,646,725 (GRCm39) |
L12F |
probably damaging |
Het |
| P2rx3 |
G |
C |
2: 84,855,294 (GRCm39) |
T54R |
possibly damaging |
Het |
| Pacsin1 |
C |
T |
17: 27,924,937 (GRCm39) |
T217I |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,308,155 (GRCm39) |
|
probably null |
Het |
| Pknox1 |
T |
C |
17: 31,811,066 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,422,256 (GRCm39) |
R70G |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,980,101 (GRCm39) |
A340T |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,485,983 (GRCm39) |
W205R |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,530,923 (GRCm39) |
T936M |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,793 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
A |
G |
2: 148,238,279 (GRCm39) |
S297G |
probably benign |
Het |
| Timm8a1 |
C |
T |
X: 133,438,872 (GRCm39) |
E93K |
probably benign |
Het |
| Uck1 |
A |
C |
2: 32,148,367 (GRCm39) |
Y150D |
probably damaging |
Het |
| Yipf4 |
A |
G |
17: 74,805,300 (GRCm39) |
|
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 |
|
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 |
|
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'- AGCCTCCCATCCCAGAGAAGTTAAG -3'
(R):5'- AATCTGACTGCTGTGTGACCCTTG -3'
Sequencing Primer
(F):5'- GATCTTCTCTGGATAGACAGGACC -3'
(R):5'- TGTGACCCTTGGCAAGTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation