Incidental Mutation 'R8791:Mmp15'
| ID |
670947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp15
|
| Ensembl Gene |
ENSMUSG00000031790 |
| Gene Name |
matrix metallopeptidase 15 |
| Synonyms |
MT2-MMP, Membrane type 2-MMP |
| MMRRC Submission |
068609-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8791 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
96078924-96100921 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 96096288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 360
(Q360*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034243]
|
| AlphaFold |
O54732 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034243
AA Change: Q360*
|
| SMART Domains |
Protein: ENSMUSP00000034243
Gene: ENSMUSG00000031790
AA Change: Q360*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
G |
T |
2: 103,823,022 (GRCm39) |
T87K |
possibly damaging |
Het |
| Adar |
G |
A |
3: 89,643,445 (GRCm39) |
R442Q |
probably benign |
Het |
| Agtr1b |
T |
A |
3: 20,370,280 (GRCm39) |
S109C |
probably damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,499,373 (GRCm39) |
Y248N |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,438,597 (GRCm39) |
V932E |
probably benign |
Het |
| Apba3 |
T |
A |
10: 81,105,104 (GRCm39) |
S126T |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,466,061 (GRCm39) |
S1942T |
possibly damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,596,552 (GRCm39) |
C20Y |
probably damaging |
Het |
| Cd63 |
C |
A |
10: 128,748,071 (GRCm39) |
N156K |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,429,807 (GRCm39) |
E270G |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,744 (GRCm39) |
Y654C |
probably damaging |
Het |
| Dgki |
A |
T |
6: 36,996,875 (GRCm39) |
D574E |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,517,056 (GRCm39) |
S63G |
probably damaging |
Het |
| Exoc1 |
C |
T |
5: 76,683,412 (GRCm39) |
R46C |
probably damaging |
Het |
| Fcgr4 |
C |
A |
1: 170,847,477 (GRCm39) |
A25D |
probably damaging |
Het |
| Fgf4 |
T |
C |
7: 144,415,408 (GRCm39) |
V56A |
probably benign |
Het |
| Gfpt2 |
A |
G |
11: 49,714,043 (GRCm39) |
I267V |
probably benign |
Het |
| Gm20939 |
A |
C |
17: 95,184,648 (GRCm39) |
H432P |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,242,739 (GRCm39) |
L35Q |
probably damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Ildr1 |
T |
C |
16: 36,528,762 (GRCm39) |
I69T |
probably damaging |
Het |
| Lrfn1 |
A |
G |
7: 28,159,344 (GRCm39) |
D421G |
probably benign |
Het |
| Nfatc2 |
T |
C |
2: 168,378,214 (GRCm39) |
K484E |
probably damaging |
Het |
| Nkpd1 |
G |
C |
7: 19,258,095 (GRCm39) |
V625L |
probably benign |
Het |
| Nlrp4a |
C |
A |
7: 26,143,561 (GRCm39) |
|
probably benign |
Het |
| Nme9 |
T |
A |
9: 99,350,301 (GRCm39) |
I178N |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,788,356 (GRCm39) |
T352I |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,686,990 (GRCm39) |
I723V |
probably damaging |
Het |
| Or5p50 |
C |
T |
7: 107,422,557 (GRCm39) |
V40M |
possibly damaging |
Het |
| Pias3 |
C |
A |
3: 96,612,201 (GRCm39) |
Q553K |
probably benign |
Het |
| Pnp2 |
T |
G |
14: 51,200,873 (GRCm39) |
H119Q |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,459,295 (GRCm39) |
D156E |
probably benign |
Het |
| Rint1 |
T |
C |
5: 24,005,594 (GRCm39) |
V92A |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,993 (GRCm39) |
M1K |
probably null |
Het |
| Rnh1 |
C |
T |
7: 140,742,346 (GRCm39) |
R404H |
probably benign |
Het |
| Slc4a8 |
T |
C |
15: 100,705,134 (GRCm39) |
V832A |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,537,678 (GRCm39) |
C167S |
probably benign |
Het |
| Spart |
A |
G |
3: 55,029,100 (GRCm39) |
D297G |
probably benign |
Het |
| Spata13 |
C |
T |
14: 60,929,275 (GRCm39) |
R278C |
probably damaging |
Het |
| Tmc1 |
T |
C |
19: 20,767,209 (GRCm39) |
T716A |
probably benign |
Het |
| Tpi1 |
A |
G |
6: 124,789,483 (GRCm39) |
V164A |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,002 (GRCm39) |
S345G |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,687 (GRCm39) |
L327Q |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,386,748 (GRCm39) |
T124I |
probably benign |
Het |
| Wdr76 |
C |
T |
2: 121,357,484 (GRCm39) |
T180I |
probably benign |
Het |
| Zcchc8 |
T |
C |
5: 123,845,362 (GRCm39) |
N333D |
probably benign |
Het |
| Zfp516 |
T |
C |
18: 82,975,460 (GRCm39) |
S553P |
probably damaging |
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 |
|
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 |
|
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'- ACTCCAGCACTTTGTATAGGAG -3'
(R):5'- GGCTCTGAACAGGACTTAGAG -3'
Sequencing Primer
(F):5'- TGTAGGCTCCCCAGATGGTAAG -3'
(R):5'- CTCTGAACAGGACTTAGAGAGGCTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation