Incidental Mutation 'R8536:Mmp2'
| ID |
659243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp2
|
| Ensembl Gene |
ENSMUSG00000031740 |
| Gene Name |
matrix metallopeptidase 2 |
| Synonyms |
Clg4a, 72kDa gelatinase, gelatinase A, 72kDa type IV collagenase, GelA, MMP-2 |
| MMRRC Submission |
067890-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
R8536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93553920-93580049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93557253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 53
(Y53F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034187]
|
| AlphaFold |
P33434 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034187
AA Change: Y53F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034187
Gene: ENSMUSG00000031740
AA Change: Y53F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
43 |
97 |
2.4e-9 |
PFAM |
|
ZnMc
|
115 |
447 |
1.06e-49 |
SMART |
|
FN2
|
226 |
274 |
2.88e-25 |
SMART |
|
FN2
|
284 |
332 |
5.17e-27 |
SMART |
|
FN2
|
342 |
390 |
3.33e-30 |
SMART |
|
HX
|
477 |
520 |
1.13e-4 |
SMART |
|
HX
|
522 |
565 |
1.33e-10 |
SMART |
|
HX
|
570 |
617 |
2.21e-16 |
SMART |
|
HX
|
619 |
662 |
4.29e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (43/43) |
| 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 that hydrolyzes collagens, gelatins, laminin, fibronectin and elastin. Mice lacking the encoded protein exhibit suppressed angiogenesis and attenuated features of human multicentric osteolysis with arthritis including abnormal skeletal and craniofacial development. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit slightly delayed growth, reduced neovascularization, retarded tumor progression, an exaggerated asthma response to allergens, and impaired branching morphogenesis of the mammary gland. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,217 (GRCm39) |
V217M |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,973,394 (GRCm39) |
Q1074R |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,170,718 (GRCm39) |
|
probably benign |
Het |
| Acox2 |
A |
T |
14: 8,256,081 (GRCm38) |
D79E |
probably benign |
Het |
| Bpifb9b |
A |
G |
2: 154,158,197 (GRCm39) |
I440V |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,516,601 (GRCm39) |
T118S |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,875,286 (GRCm39) |
I240T |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,208,536 (GRCm39) |
|
probably null |
Het |
| Cox18 |
A |
G |
5: 90,362,877 (GRCm39) |
F326S |
probably damaging |
Het |
| Dnm1l |
C |
A |
16: 16,176,639 (GRCm39) |
V31L |
probably benign |
Het |
| Dst |
C |
A |
1: 34,236,327 (GRCm39) |
L3578M |
possibly damaging |
Het |
| Fbxw24 |
G |
A |
9: 109,452,599 (GRCm39) |
T132I |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,100,823 (GRCm39) |
V120A |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,706,643 (GRCm39) |
E396G |
probably damaging |
Het |
| Fryl |
G |
T |
5: 73,257,696 (GRCm39) |
T702K |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,868 (GRCm39) |
I208F |
probably damaging |
Het |
| Gzmd |
T |
C |
14: 56,367,158 (GRCm39) |
I245V |
probably damaging |
Het |
| Lats2 |
G |
A |
14: 57,940,495 (GRCm39) |
A119V |
probably damaging |
Het |
| Lztfl1 |
A |
T |
9: 123,540,119 (GRCm39) |
F129L |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,490,787 (GRCm39) |
N320S |
probably benign |
Het |
| Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
| Ndufa8 |
A |
C |
2: 35,939,312 (GRCm39) |
|
probably benign |
Het |
| Nek11 |
A |
T |
9: 105,175,538 (GRCm39) |
M302K |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,404,797 (GRCm39) |
|
probably null |
Het |
| Numa1 |
C |
T |
7: 101,650,787 (GRCm39) |
A1506V |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,869,522 (GRCm39) |
|
probably null |
Het |
| Poteg |
C |
A |
8: 27,938,048 (GRCm39) |
T6K |
probably benign |
Het |
| Rbm26 |
A |
T |
14: 105,380,274 (GRCm39) |
N514K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,942 (GRCm39) |
L422P |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,368,811 (GRCm39) |
T238K |
probably damaging |
Het |
| Shd |
G |
A |
17: 56,283,315 (GRCm39) |
A315T |
probably damaging |
Het |
| Sirpd |
A |
G |
3: 15,361,614 (GRCm39) |
*179R |
probably null |
Het |
| Slco5a1 |
T |
G |
1: 12,951,525 (GRCm39) |
T593P |
possibly damaging |
Het |
| Stard9 |
G |
A |
2: 120,545,140 (GRCm39) |
R4560H |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,876,823 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
G |
C |
7: 63,897,155 (GRCm39) |
K252N |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,339,803 (GRCm39) |
I584K |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,535 (GRCm39) |
V214A |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 102,033,064 (GRCm39) |
H2215Q |
probably benign |
Het |
| Wls |
G |
A |
3: 159,578,748 (GRCm39) |
M103I |
probably damaging |
Het |
| Zmat4 |
T |
C |
8: 24,238,523 (GRCm39) |
|
probably null |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
probably damaging |
Het |
|
| Other mutations in Mmp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00647:Mmp2
|
APN |
8 |
93,557,312 (GRCm39) |
missense |
probably benign |
|
|
IGL02165:Mmp2
|
APN |
8 |
93,559,847 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02424:Mmp2
|
APN |
8 |
93,562,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02478:Mmp2
|
APN |
8 |
93,579,235 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03351:Mmp2
|
APN |
8 |
93,565,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2012:Mmp2
|
UTSW |
8 |
93,576,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2034:Mmp2
|
UTSW |
8 |
93,563,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Mmp2
|
UTSW |
8 |
93,576,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Mmp2
|
UTSW |
8 |
93,579,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Mmp2
|
UTSW |
8 |
93,558,413 (GRCm39) |
nonsense |
probably null |
|
|
R5357:Mmp2
|
UTSW |
8 |
93,559,780 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6902:Mmp2
|
UTSW |
8 |
93,563,545 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6925:Mmp2
|
UTSW |
8 |
93,566,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Mmp2
|
UTSW |
8 |
93,558,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Mmp2
|
UTSW |
8 |
93,558,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Mmp2
|
UTSW |
8 |
93,567,038 (GRCm39) |
missense |
probably benign |
|
|
R7332:Mmp2
|
UTSW |
8 |
93,576,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Mmp2
|
UTSW |
8 |
93,562,755 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7549:Mmp2
|
UTSW |
8 |
93,563,594 (GRCm39) |
missense |
probably null |
1.00 |
|
R7585:Mmp2
|
UTSW |
8 |
93,563,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7694:Mmp2
|
UTSW |
8 |
93,558,358 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7814:Mmp2
|
UTSW |
8 |
93,576,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9647:Mmp2
|
UTSW |
8 |
93,567,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Mmp2
|
UTSW |
8 |
93,554,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTGAATCACCCCACTGG -3'
(R):5'- GCACCTGTATGTGATCTGGTTC -3'
Sequencing Primer
(F):5'- CACTGGTGGGTGACAGAACTC -3'
(R):5'- GAAGAAGTTGTAGTTGGCCACATCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation