Incidental Mutation 'R6657:Mmp24'
| ID |
526651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mmp24
|
| Ensembl Gene |
ENSMUSG00000027612 |
| Gene Name |
matrix metallopeptidase 24 |
| Synonyms |
Membrane type 5-MMP, MT5-MMP |
| MMRRC Submission |
044778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R6657 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155617262-155660286 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155640099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 143
(Y143F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029141]
|
| AlphaFold |
Q9R0S2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029141
AA Change: Y143F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: Y143F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
52 |
107 |
6.9e-14 |
PFAM |
|
ZnMc
|
132 |
301 |
1.78e-60 |
SMART |
|
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
|
HX
|
357 |
400 |
7.4e-9 |
SMART |
|
HX
|
402 |
446 |
7.01e-10 |
SMART |
|
HX
|
449 |
495 |
6.49e-14 |
SMART |
|
HX
|
497 |
542 |
6.64e-11 |
SMART |
|
Pfam:DUF3377
|
548 |
618 |
1.9e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.2823 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
98% (48/49) |
| 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. Mice lacking the encoded protein do not develop neuropathic pain with mechanical allodynia after sciatic nerve injury, display enhanced sensitivity to noxious thermal stimuli under basal conditions, and develop hyperalgesia during inflammation. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene fail to develop neuropathic pain after peripheral nerve injury. They also experience reduced stress and enhanced mechanical coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
T |
G |
8: 106,435,450 (GRCm39) |
L36R |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Akr1b7 |
A |
C |
6: 34,393,135 (GRCm39) |
D106A |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Chst5 |
C |
T |
8: 112,616,906 (GRCm39) |
R238Q |
probably benign |
Het |
| Cpxm2 |
T |
C |
7: 131,650,806 (GRCm39) |
Y618C |
probably damaging |
Het |
| Csnk1d |
T |
C |
11: 120,855,820 (GRCm39) |
E405G |
possibly damaging |
Het |
| Ctsh |
A |
T |
9: 89,942,555 (GRCm39) |
M37L |
probably benign |
Het |
| Eml5 |
T |
G |
12: 98,757,664 (GRCm39) |
I1843L |
probably damaging |
Het |
| Ep400 |
C |
A |
5: 110,841,411 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Gpc5 |
A |
G |
14: 115,607,610 (GRCm39) |
H404R |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,757 (GRCm39) |
D230G |
possibly damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,222 (GRCm39) |
D735G |
probably damaging |
Het |
| Kansl2 |
T |
A |
15: 98,422,551 (GRCm39) |
Q339L |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,322,398 (GRCm39) |
M1078K |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,559,697 (GRCm39) |
C743* |
probably null |
Het |
| Myh14 |
T |
C |
7: 44,287,270 (GRCm39) |
N618D |
probably damaging |
Het |
| Myo19 |
A |
T |
11: 84,788,022 (GRCm39) |
M324L |
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,472,065 (GRCm39) |
N108S |
probably benign |
Het |
| Nrg2 |
A |
G |
18: 36,329,642 (GRCm39) |
I191T |
probably damaging |
Het |
| Odf4 |
T |
C |
11: 68,817,638 (GRCm39) |
N18D |
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,403 (GRCm39) |
I113F |
probably benign |
Het |
| Pcsk2 |
T |
G |
2: 143,532,286 (GRCm39) |
L145V |
probably damaging |
Het |
| Pdzrn3 |
C |
A |
6: 101,127,983 (GRCm39) |
Q894H |
probably benign |
Het |
| Pfpl |
G |
A |
19: 12,407,290 (GRCm39) |
V514I |
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,594,250 (GRCm39) |
M333K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,062,356 (GRCm39) |
M2554K |
possibly damaging |
Het |
| Psmb5 |
A |
G |
14: 54,851,840 (GRCm39) |
Y115H |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,788,977 (GRCm39) |
N198D |
possibly damaging |
Het |
| Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,315,876 (GRCm39) |
W262* |
probably null |
Het |
| Sfmbt1 |
A |
G |
14: 30,488,053 (GRCm39) |
D8G |
possibly damaging |
Het |
| Sptbn5 |
T |
G |
2: 119,906,881 (GRCm39) |
|
probably benign |
Het |
| Sqor |
A |
G |
2: 122,649,514 (GRCm39) |
D139G |
possibly damaging |
Het |
| Sugt1 |
A |
T |
14: 79,844,701 (GRCm39) |
T139S |
probably benign |
Het |
| Tcp11 |
G |
A |
17: 28,290,646 (GRCm39) |
P159S |
probably damaging |
Het |
| Tmem262 |
A |
G |
19: 6,130,542 (GRCm39) |
T89A |
possibly damaging |
Het |
| Tnfaip6 |
C |
A |
2: 51,933,795 (GRCm39) |
T50N |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,826,182 (GRCm39) |
Y131H |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,320 (GRCm39) |
M185K |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r52 |
G |
A |
7: 9,893,090 (GRCm39) |
T683I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,025,253 (GRCm39) |
I197N |
probably damaging |
Het |
| Washc4 |
T |
A |
10: 83,394,482 (GRCm39) |
F269L |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,769,208 (GRCm39) |
V2086M |
possibly damaging |
Het |
| Zfp592 |
A |
T |
7: 80,675,234 (GRCm39) |
T733S |
possibly damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,538 (GRCm39) |
F209S |
probably damaging |
Het |
|
| Other mutations in Mmp24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01544:Mmp24
|
APN |
2 |
155,641,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02089:Mmp24
|
APN |
2 |
155,654,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Mmp24
|
APN |
2 |
155,657,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Mmp24
|
UTSW |
2 |
155,634,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1381:Mmp24
|
UTSW |
2 |
155,656,047 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4497:Mmp24
|
UTSW |
2 |
155,655,908 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4498:Mmp24
|
UTSW |
2 |
155,655,908 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4727:Mmp24
|
UTSW |
2 |
155,657,819 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4985:Mmp24
|
UTSW |
2 |
155,656,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5020:Mmp24
|
UTSW |
2 |
155,652,204 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5501:Mmp24
|
UTSW |
2 |
155,640,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Mmp24
|
UTSW |
2 |
155,641,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5709:Mmp24
|
UTSW |
2 |
155,634,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5773:Mmp24
|
UTSW |
2 |
155,641,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6452:Mmp24
|
UTSW |
2 |
155,657,673 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7015:Mmp24
|
UTSW |
2 |
155,634,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7699:Mmp24
|
UTSW |
2 |
155,640,096 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8076:Mmp24
|
UTSW |
2 |
155,649,481 (GRCm39) |
nonsense |
probably null |
|
|
R8111:Mmp24
|
UTSW |
2 |
155,649,345 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8139:Mmp24
|
UTSW |
2 |
155,655,965 (GRCm39) |
nonsense |
probably null |
|
|
R8304:Mmp24
|
UTSW |
2 |
155,641,759 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8344:Mmp24
|
UTSW |
2 |
155,652,223 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8411:Mmp24
|
UTSW |
2 |
155,655,935 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8527:Mmp24
|
UTSW |
2 |
155,641,634 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8542:Mmp24
|
UTSW |
2 |
155,641,634 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9198:Mmp24
|
UTSW |
2 |
155,640,041 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9500:Mmp24
|
UTSW |
2 |
155,654,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mmp24
|
UTSW |
2 |
155,652,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTCTTAGAGTGCTCAGTAAC -3'
(R):5'- AAACCTGAGGGTGGAGTCAC -3'
Sequencing Primer
(F):5'- TGCTCAGTAACCACAGTGTG -3'
(R):5'- CAAGGAAGACAAGTTCACAGGCTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation