Incidental Mutation 'R4498:Mmp24'
ID 331682
Institutional Source Beutler Lab
Gene Symbol Mmp24
Ensembl Gene ENSMUSG00000027612
Gene Name matrix metallopeptidase 24
Synonyms Membrane type 5-MMP, MT5-MMP
MMRRC Submission 041751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R4498 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 155617262-155660286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155655908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 449 (I449V)
Ref Sequence ENSEMBL: ENSMUSP00000029141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029141] [ENSMUST00000124586]
AlphaFold Q9R0S2
Predicted Effect possibly damaging
Transcript: ENSMUST00000029141
AA Change: I449V

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: I449V

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000124586
SMART Domains Protein: ENSMUSP00000145349
Gene: ENSMUSG00000074649

DomainStartEndE-ValueType
low complexity region 7 37 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135945
Meta Mutation Damage Score 0.3065 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 91% (53/58)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 G A 15: 81,779,486 (GRCm39) A97T probably damaging Het
Acot9 T A X: 154,047,064 (GRCm39) L18* probably null Het
Arhgap12 A T 18: 6,111,774 (GRCm39) C69S probably damaging Het
Ccdc17 G T 4: 116,454,438 (GRCm39) probably benign Het
Ctnnd2 A C 15: 30,620,020 (GRCm39) D124A probably damaging Het
Cux1 T C 5: 136,341,847 (GRCm39) N424S probably damaging Het
Dhrs7c T C 11: 67,706,706 (GRCm39) F214S possibly damaging Het
Fat2 T C 11: 55,160,923 (GRCm39) D3269G possibly damaging Het
Fhod3 T A 18: 25,243,296 (GRCm39) probably null Het
Glul G T 1: 153,782,849 (GRCm39) G187* probably null Het
Gnmt ATTAGGGGATGGTCTTAGGG ATTAGGG 17: 47,036,662 (GRCm39) 294 probably benign Het
H2-Q7 A T 17: 35,658,506 (GRCm39) Y48F probably damaging Het
Hes3 T C 4: 152,371,542 (GRCm39) T136A probably benign Het
Krt40 T C 11: 99,433,900 (GRCm39) T29A possibly damaging Het
Lrrc37a C A 11: 103,392,624 (GRCm39) D934Y probably benign Het
Mctp2 T A 7: 71,833,599 (GRCm39) D581V probably damaging Het
Med27 T C 2: 29,361,354 (GRCm39) S38P probably damaging Het
Mff A G 1: 82,719,501 (GRCm39) probably benign Het
Mmadhc T C 2: 50,170,236 (GRCm39) K292R probably benign Het
Mthfd1 G T 12: 76,361,764 (GRCm39) L123F probably damaging Het
Mug2 T A 6: 122,059,711 (GRCm39) L1363Q probably damaging Het
Myh4 T C 11: 67,142,578 (GRCm39) I913T probably damaging Het
Myo16 T A 8: 10,485,869 (GRCm39) N649K probably benign Het
Myo7b A G 18: 32,147,282 (GRCm39) I87T probably benign Het
Ndst4 A G 3: 125,232,007 (GRCm39) D192G probably damaging Het
Nup155 A G 15: 8,183,157 (GRCm39) D1239G possibly damaging Het
Or5b21 T C 19: 12,840,033 (GRCm39) V298A probably damaging Het
Or7e173 G C 9: 19,939,029 (GRCm39) N68K possibly damaging Het
Phf10 T A 17: 15,165,377 (GRCm39) N493I probably benign Het
Pramel32 A T 4: 88,547,129 (GRCm39) probably null Het
Prr12 T C 7: 44,695,338 (GRCm39) E1376G unknown Het
Rasa3 T C 8: 13,664,587 (GRCm39) H75R probably benign Het
Rin3 G A 12: 102,335,939 (GRCm39) V537M probably damaging Het
Samd4 C T 14: 47,333,566 (GRCm39) T272I probably damaging Het
Septin5 C T 16: 18,442,142 (GRCm39) G257D probably damaging Het
Serpina6 T C 12: 103,620,326 (GRCm39) K141R probably benign Het
Siglecf T A 7: 43,001,700 (GRCm39) I170N possibly damaging Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Stk40 G A 4: 126,023,544 (GRCm39) probably null Het
Syne1 A G 10: 4,981,768 (GRCm39) S8700P probably benign Het
Tbc1d4 C T 14: 101,845,772 (GRCm39) G42E probably damaging Het
Tfap2c C T 2: 172,399,102 (GRCm39) Q425* probably null Het
Tmem255b T C 8: 13,505,998 (GRCm39) S202P probably damaging Het
Traf6 T C 2: 101,514,891 (GRCm39) S16P probably benign Het
Ttc12 A G 9: 49,383,705 (GRCm39) I66T probably damaging Het
Ttc21a G A 9: 119,787,885 (GRCm39) D818N possibly damaging Het
Zfp81 A T 17: 33,553,677 (GRCm39) I379N possibly damaging Het
Zgrf1 C A 3: 127,379,749 (GRCm39) S211* probably null Het
Other mutations in Mmp24
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6657:Mmp24 UTSW 2 155,640,099 (GRCm39) missense probably damaging 1.00
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'- CGATTGGCTTTTGCTCCACAG -3'
(R):5'- TTGCTGATGAAGGCCCCTTG -3'

Sequencing Primer
(F):5'- GGGGCTAAAACTCACATTCCGG -3'
(R):5'- ATGAAGGCCCCTTGCGGAG -3'
Posted On 2015-07-21