Incidental Mutation 'R8076:Mmp24'
ID 629005
Institutional Source Beutler Lab
Gene Symbol Mmp24
Ensembl Gene ENSMUSG00000027612
Gene Name matrix metallopeptidase 24
Synonyms Membrane type 5-MMP, MT5-MMP
MMRRC Submission 067510-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R8076 (G1)
Quality Score 219.009
Status Validated
Chromosome 2
Chromosomal Location 155617262-155660286 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 155649481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 299 (Y299*)
Ref Sequence ENSEMBL: ENSMUSP00000029141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029141]
AlphaFold Q9R0S2
Predicted Effect probably null
Transcript: ENSMUST00000029141
AA Change: Y299*
SMART Domains Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: Y299*

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 T A 8: 25,452,938 (GRCm39) R790* probably null Het
Adamts13 C A 2: 26,880,624 (GRCm39) P736T probably benign Het
Aldh3b2 T A 19: 4,028,859 (GRCm39) F176L possibly damaging Het
Aldoart2 A G 12: 55,612,696 (GRCm39) E207G probably benign Het
Arid4b A T 13: 14,361,535 (GRCm39) E753D probably benign Het
Cd160 T A 3: 96,709,662 (GRCm39) T158S probably benign Het
Cd209g T A 8: 4,185,195 (GRCm39) M1K probably null Het
Chrm4 A G 2: 91,758,204 (GRCm39) Y204C probably damaging Het
Cyld T A 8: 89,456,346 (GRCm39) N465K probably benign Het
Dchs1 A T 7: 105,405,128 (GRCm39) H2471Q possibly damaging Het
Dchs1 A G 7: 105,411,189 (GRCm39) V1612A probably damaging Het
Ddx24 A G 12: 103,382,477 (GRCm39) V702A probably damaging Het
Dnah8 A G 17: 31,003,127 (GRCm39) T3609A possibly damaging Het
Dock5 A T 14: 68,040,426 (GRCm39) probably null Het
Dpy19l2 C T 9: 24,591,988 (GRCm39) R205H probably damaging Het
Eif3a A T 19: 60,762,363 (GRCm39) D473E probably damaging Het
Elapor1 G T 3: 108,399,398 (GRCm39) T64K probably benign Het
Elobl T C 11: 88,855,796 (GRCm39) E89G possibly damaging Het
Fam186a A T 15: 99,841,351 (GRCm39) I1631N possibly damaging Het
Fbn2 C T 18: 58,159,496 (GRCm39) W2411* probably null Het
Fbxl17 A G 17: 63,367,360 (GRCm39) I671T probably damaging Het
Glul C T 1: 153,782,868 (GRCm39) T193I possibly damaging Het
Grm7 A G 6: 111,543,000 (GRCm39) Y907C probably damaging Het
H4c16 A G 6: 136,781,124 (GRCm39) M85T probably benign Het
Hr A G 14: 70,795,381 (GRCm39) T309A probably benign Het
Ighg3 A G 12: 113,324,158 (GRCm39) S110P probably benign Het
Llgl2 A G 11: 115,737,755 (GRCm39) E180G possibly damaging Het
Mat2b A T 11: 40,576,092 (GRCm39) L112Q probably damaging Het
Mcoln2 T C 3: 145,896,169 (GRCm39) M497T probably damaging Het
Mtor T C 4: 148,610,260 (GRCm39) probably null Het
Olig2 C A 16: 91,023,299 (GRCm39) D4E probably damaging Het
Or10ag2 A T 2: 87,248,889 (GRCm39) I164L probably benign Het
Pard3 T C 8: 128,142,077 (GRCm39) S878P probably damaging Het
Pcgf5 C T 19: 36,417,483 (GRCm39) P137L probably damaging Het
Pck1 A G 2: 172,997,071 (GRCm39) N238D probably damaging Het
Pstpip1 T C 9: 56,035,064 (GRCm39) S346P probably benign Het
Qsox2 G A 2: 26,114,897 (GRCm39) H40Y possibly damaging Het
Rbpj T C 5: 53,799,479 (GRCm39) I129T probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Saal1 G A 7: 46,360,031 (GRCm39) P9L probably benign Het
Sema3c A G 5: 17,932,362 (GRCm39) I622V probably benign Het
Sigirr C T 7: 140,671,785 (GRCm39) V333M probably benign Het
Sort1 T C 3: 108,246,183 (GRCm39) S387P probably damaging Het
Spata31h1 A C 10: 82,132,520 (GRCm39) Y163* probably null Het
Spta1 T A 1: 174,014,797 (GRCm39) S426T probably benign Het
Stag3 G A 5: 138,281,404 (GRCm39) S124N probably damaging Het
Stard10 A G 7: 100,993,176 (GRCm39) Y244C probably damaging Het
Tcea3 T A 4: 135,995,440 (GRCm39) I261N probably damaging Het
Tdrd1 A G 19: 56,832,267 (GRCm39) K395E probably damaging Het
Tenm2 T A 11: 35,918,048 (GRCm39) D1905V probably benign Het
Trim12c T C 7: 103,990,037 (GRCm39) Y480C unknown Het
Trip11 A G 12: 101,849,741 (GRCm39) V1441A probably damaging Het
Ttc21a G A 9: 119,795,392 (GRCm39) R1107Q probably benign Het
Wdr41 A G 13: 95,153,838 (GRCm39) I296V probably benign Het
Zdbf2 T A 1: 63,345,260 (GRCm39) V1213E possibly damaging Het
Zfp37 T C 4: 62,109,553 (GRCm39) N545D possibly damaging 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
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
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
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'- CAATGCCCAGCCAAAGGTTG -3'
(R):5'- ACTATTCCTCGGGCAGATGC -3'

Sequencing Primer
(F):5'- TGCTATGCTTAGGAACAGCC -3'
(R):5'- CAGATGCGTGACTCTCCTAAGTTAG -3'
Posted On 2020-06-30