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 |