Incidental Mutation 'R2993:Mmp21'
| ID |
257969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp21
|
| Ensembl Gene |
ENSMUSG00000030981 |
| Gene Name |
matrix metallopeptidase 21 |
| Synonyms |
b2b2458Clo, b2b873Clo |
| MMRRC Submission |
040528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2993 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
133275999-133281790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 133280715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 85
(R85H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033278]
[ENSMUST00000122136]
|
| AlphaFold |
Q8K3F2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033278
AA Change: R85H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033278
Gene: ENSMUSG00000030981
AA Change: R85H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
46 |
107 |
5.6e-13 |
PFAM |
|
low complexity region
|
117 |
133 |
N/A |
INTRINSIC |
|
ZnMc
|
166 |
327 |
2.67e-32 |
SMART |
|
HX
|
332 |
390 |
1.97e-1 |
SMART |
|
HX
|
393 |
448 |
5.36e-6 |
SMART |
|
HX
|
450 |
497 |
9.33e-6 |
SMART |
|
HX
|
505 |
548 |
1.11e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122136
AA Change: R85H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113853
Gene: ENSMUSG00000030981
AA Change: R85H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PG_binding_1
|
46 |
107 |
1.9e-13 |
PFAM |
|
low complexity region
|
117 |
133 |
N/A |
INTRINSIC |
|
ZnMc
|
166 |
327 |
2.67e-32 |
SMART |
|
Pfam:Hemopexin
|
351 |
390 |
4.7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131894
|
| Meta Mutation Damage Score |
0.6494 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (34/34) |
| 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. Mice harboring certain mutations in this gene exhibit congenital heart defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit heterotaxia and congenital cardiovascular defects including d-loop transposition of the great arteries, tricupid valve atresia, and ventricular septal defect. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
A |
G |
3: 124,372,184 (GRCm39) |
W67R |
probably damaging |
Het |
| Abca16 |
T |
C |
7: 120,134,384 (GRCm39) |
V1377A |
probably damaging |
Het |
| Adarb2 |
A |
C |
13: 8,763,752 (GRCm39) |
I550L |
probably benign |
Het |
| Afdn |
T |
C |
17: 14,111,262 (GRCm39) |
|
probably null |
Het |
| Ago1 |
G |
T |
4: 126,333,839 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdc7 |
G |
A |
5: 107,121,764 (GRCm39) |
V226I |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,427,017 (GRCm39) |
V206I |
probably benign |
Het |
| Ddx47 |
G |
T |
6: 134,995,944 (GRCm39) |
R120L |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,542,713 (GRCm39) |
L2486F |
probably damaging |
Het |
| Eif3d |
A |
G |
15: 77,845,905 (GRCm39) |
I372T |
possibly damaging |
Het |
| Eogt |
A |
T |
6: 97,095,915 (GRCm39) |
|
probably null |
Het |
| Epb42 |
G |
A |
2: 120,859,525 (GRCm39) |
|
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 113,818,484 (GRCm39) |
E159G |
possibly damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,488,476 (GRCm39) |
V314A |
probably damaging |
Het |
| Gpr15lg |
T |
A |
14: 36,829,402 (GRCm39) |
H27L |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,721,997 (GRCm39) |
F32L |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,317,011 (GRCm39) |
I56T |
probably damaging |
Het |
| Katnbl1 |
G |
T |
2: 112,238,963 (GRCm39) |
|
probably null |
Het |
| Klhdc4 |
G |
C |
8: 122,533,320 (GRCm39) |
S118* |
probably null |
Het |
| Klrb1-ps1 |
A |
T |
6: 129,097,992 (GRCm39) |
K73N |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,446,250 (GRCm39) |
D98G |
probably damaging |
Het |
| Lrrfip1 |
C |
A |
1: 91,032,956 (GRCm39) |
D313E |
probably damaging |
Het |
| Misp3 |
A |
G |
8: 84,738,213 (GRCm39) |
L34P |
probably damaging |
Het |
| Mrpl16 |
A |
G |
19: 11,751,895 (GRCm39) |
I218M |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,495,823 (GRCm39) |
V553D |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,909 (GRCm39) |
D90E |
possibly damaging |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,472 (GRCm39) |
S16R |
probably damaging |
Het |
| Vmn2r55 |
C |
T |
7: 12,418,882 (GRCm39) |
A13T |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,991,909 (GRCm39) |
V637A |
probably damaging |
Het |
|
| Other mutations in Mmp21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01868:Mmp21
|
APN |
7 |
133,277,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02822:Mmp21
|
APN |
7 |
133,277,828 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03240:Mmp21
|
APN |
7 |
133,276,300 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03261:Mmp21
|
APN |
7 |
133,276,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0659:Mmp21
|
UTSW |
7 |
133,279,396 (GRCm39) |
splice site |
probably benign |
|
|
R1037:Mmp21
|
UTSW |
7 |
133,276,182 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1463:Mmp21
|
UTSW |
7 |
133,277,588 (GRCm39) |
splice site |
probably null |
|
|
R1523:Mmp21
|
UTSW |
7 |
133,280,774 (GRCm39) |
missense |
probably benign |
|
|
R1710:Mmp21
|
UTSW |
7 |
133,279,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Mmp21
|
UTSW |
7 |
133,280,611 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1848:Mmp21
|
UTSW |
7 |
133,278,882 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3431:Mmp21
|
UTSW |
7 |
133,280,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4790:Mmp21
|
UTSW |
7 |
133,276,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Mmp21
|
UTSW |
7 |
133,280,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Mmp21
|
UTSW |
7 |
133,280,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5347:Mmp21
|
UTSW |
7 |
133,277,651 (GRCm39) |
missense |
probably benign |
|
|
R5682:Mmp21
|
UTSW |
7 |
133,276,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5905:Mmp21
|
UTSW |
7 |
133,280,443 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6028:Mmp21
|
UTSW |
7 |
133,280,443 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6936:Mmp21
|
UTSW |
7 |
133,280,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7657:Mmp21
|
UTSW |
7 |
133,280,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7702:Mmp21
|
UTSW |
7 |
133,280,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7786:Mmp21
|
UTSW |
7 |
133,276,764 (GRCm39) |
missense |
probably benign |
|
|
R8922:Mmp21
|
UTSW |
7 |
133,276,000 (GRCm39) |
unclassified |
probably benign |
|
|
R8937:Mmp21
|
UTSW |
7 |
133,280,700 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8989:Mmp21
|
UTSW |
7 |
133,276,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mmp21
|
UTSW |
7 |
133,276,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCGCTTTTGTCTGGCC -3'
(R):5'- CACTCTGGTAGATCCTGGATAAAGTC -3'
Sequencing Primer
(F):5'- CCTGGGCCGGAGACCTAAAG -3'
(R):5'- AGCTTCATTCTGTGTATCTCCTG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation