Incidental Mutation 'IGL02452:Mmp24'
ID293676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmp24
Ensembl Gene ENSMUSG00000027612
Gene Namematrix metallopeptidase 24
SynonymsMembrane type 5-MMP, MT5-MMP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.161) question?
Stock #IGL02452
Quality Score
Status
Chromosome2
Chromosomal Location155775342-155818366 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 155815788 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 533 (R533C)
Ref Sequence ENSEMBL: ENSMUSP00000029141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029141] [ENSMUST00000029142] [ENSMUST00000124586] [ENSMUST00000154841]
Predicted Effect probably damaging
Transcript: ENSMUST00000029141
AA Change: R533C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
AA Change: R533C

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: ENSMUST00000029142
SMART Domains Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
eIF6 3 204 2.72e-136 SMART
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: ENSMUST00000134811
Predicted Effect probably benign
Transcript: ENSMUST00000154841
SMART Domains Protein: ENSMUSP00000115715
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
Pfam:eIF-6 3 45 7.8e-10 PFAM
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,941,970 V11F probably damaging Het
Alk A T 17: 71,902,625 Y941* probably null Het
Armc4 C T 18: 7,129,461 E906K probably damaging Het
Blm A T 7: 80,503,377 probably null Het
Blvrb T C 7: 27,459,340 V55A possibly damaging Het
Cdh23 T A 10: 60,317,942 T2288S probably damaging Het
Csnk1g1 T A 9: 66,007,785 M242K probably damaging Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Cyp2d26 T A 15: 82,792,626 H173L probably benign Het
Cyp2g1 T A 7: 26,811,446 S131T probably benign Het
Dupd1 G A 14: 21,702,922 T52I probably damaging Het
Dzip3 T A 16: 48,938,537 probably benign Het
Espl1 T C 15: 102,299,839 S427P probably damaging Het
Fasn A T 11: 120,808,180 D2424E probably benign Het
Flrt2 G A 12: 95,779,483 M198I probably benign Het
Gen1 A T 12: 11,242,575 S404R probably benign Het
Gm11596 A T 11: 99,792,980 C105S unknown Het
Gm8765 A T 13: 50,703,077 H917L probably damaging Het
Hdlbp A T 1: 93,417,511 V714D probably damaging Het
Igkv4-80 A G 6: 69,016,832 V25A probably benign Het
Igkv8-27 C T 6: 70,171,941 W76* probably null Het
Ikzf1 T C 11: 11,748,545 L132P probably damaging Het
Kcna6 C A 6: 126,738,480 C482F possibly damaging Het
Lhx9 A T 1: 138,841,842 L47Q probably damaging Het
Lrp4 T A 2: 91,474,002 D175E probably damaging Het
Lrrtm3 T C 10: 64,088,036 K451E probably damaging Het
Mcm9 C T 10: 53,541,557 V17M probably damaging Het
Mios T A 6: 8,222,492 S475R probably benign Het
Moxd1 C T 10: 24,282,752 P435S probably damaging Het
Mta2 T A 19: 8,950,306 I497N probably benign Het
Mtus2 T C 5: 148,077,663 V422A probably benign Het
Ndufaf1 A T 2: 119,656,426 F260Y probably damaging Het
Nfasc C T 1: 132,620,924 probably null Het
Nid1 A T 13: 13,508,720 T1128S probably benign Het
Olfr583 A G 7: 103,051,931 D211G probably benign Het
Pcdh12 G A 18: 38,281,693 P793L probably benign Het
Pclo A T 5: 14,676,966 probably benign Het
Prpf31 T A 7: 3,634,186 N161K possibly damaging Het
Prpf6 T G 2: 181,649,085 N656K probably benign Het
Ptprn T A 1: 75,258,169 H258L probably benign Het
Rab19 A G 6: 39,389,798 T216A probably benign Het
Ryr3 A C 2: 112,833,990 L1652W probably damaging Het
Six2 A C 17: 85,685,378 S232R possibly damaging Het
Spag17 T C 3: 100,027,391 V663A probably benign Het
Spag5 A G 11: 78,304,623 N252S probably benign Het
Sptb C T 12: 76,609,036 probably null Het
Synj1 A G 16: 90,961,365 probably benign Het
Tekt2 T C 4: 126,324,852 H36R possibly damaging Het
Tjp1 A T 7: 65,312,655 M1258K probably damaging Het
Txnrd3 T C 6: 89,674,795 *502Q probably null Het
Other mutations in Mmp24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Mmp24 APN 2 155799887 missense probably damaging 1.00
IGL02089:Mmp24 APN 2 155812293 missense probably damaging 1.00
R0600:Mmp24 UTSW 2 155792597 missense probably benign 0.01
R1381:Mmp24 UTSW 2 155814127 missense possibly damaging 0.46
R4497:Mmp24 UTSW 2 155813988 missense possibly damaging 0.85
R4498:Mmp24 UTSW 2 155813988 missense possibly damaging 0.85
R4727:Mmp24 UTSW 2 155815899 missense possibly damaging 0.55
R4985:Mmp24 UTSW 2 155814096 missense probably damaging 0.99
R5020:Mmp24 UTSW 2 155810284 missense probably benign 0.09
R5501:Mmp24 UTSW 2 155798136 missense probably damaging 1.00
R5686:Mmp24 UTSW 2 155799777 missense probably damaging 0.99
R5709:Mmp24 UTSW 2 155792542 missense probably damaging 1.00
R5773:Mmp24 UTSW 2 155799909 missense probably damaging 1.00
R6452:Mmp24 UTSW 2 155815753 missense possibly damaging 0.67
R6657:Mmp24 UTSW 2 155798179 missense probably damaging 1.00
R7015:Mmp24 UTSW 2 155792624 missense probably damaging 0.99
R7699:Mmp24 UTSW 2 155798176 missense probably damaging 0.99
R8076:Mmp24 UTSW 2 155807561 nonsense probably null
R8111:Mmp24 UTSW 2 155807425 missense possibly damaging 0.81
R8139:Mmp24 UTSW 2 155814045 nonsense probably null
R8304:Mmp24 UTSW 2 155799839 missense possibly damaging 0.85
R8344:Mmp24 UTSW 2 155810303 missense possibly damaging 0.68
R8411:Mmp24 UTSW 2 155814015 missense probably benign 0.03
Z1176:Mmp24 UTSW 2 155810392 missense probably damaging 0.98
Posted On2015-04-16