Incidental Mutation 'Y5380:Mmp17'
ID 202698
Institutional Source Beutler Lab
Gene Symbol Mmp17
Ensembl Gene ENSMUSG00000029436
Gene Name matrix metallopeptidase 17
Synonyms MT4-MMP, membrane type-4 matrix metalloproteinase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # Y5380 ()
Quality Score 219
Status Not validated
Chromosome 5
Chromosomal Location 129661233-129688163 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129672594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 182 (A182V)
Ref Sequence ENSEMBL: ENSMUSP00000031390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031390]
AlphaFold Q9R0S3
Predicted Effect probably damaging
Transcript: ENSMUST00000031390
AA Change: A182V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031390
Gene: ENSMUSG00000029436
AA Change: A182V

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
Pfam:PG_binding_1 44 104 5e-15 PFAM
ZnMc 128 295 8.26e-47 SMART
low complexity region 308 320 N/A INTRINSIC
HX 340 384 3.17e-8 SMART
HX 389 432 2.59e-13 SMART
HX 435 481 6.39e-13 SMART
HX 483 527 1.1e-7 SMART
low complexity region 563 578 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177802
Coding Region Coverage
  • 1x: 97.2%
  • 3x: 96.3%
  • 10x: 93.5%
  • 20x: 87.2%
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 exhibit dysfunctional vascular smooth muscle cells and altered extracellular matrix in the vessel wall leading to an increased susceptibility to angiotensin-II-induced thoracic aortic aneurysm. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a reporter allele exhibit normal morphology, clinical chemistry, hematology and behavior. Mice homozygous for a reporter/null allele exhibit normal growth, fertility, and lifespan but show subtle renal developmental defects, hypodipsia, and elevated urine osmolarity. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted(2)
Other mutations in this stock
Total: 1 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Pole G T 5: 110,442,757 (GRCm39) probably null Het
Other mutations in Mmp17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Mmp17 APN 5 129,683,472 (GRCm39) missense probably benign 0.00
IGL01602:Mmp17 APN 5 129,679,008 (GRCm39) missense probably benign 0.00
IGL01605:Mmp17 APN 5 129,679,008 (GRCm39) missense probably benign 0.00
IGL01782:Mmp17 APN 5 129,679,205 (GRCm39) missense probably damaging 1.00
IGL01986:Mmp17 APN 5 129,673,692 (GRCm39) missense probably damaging 1.00
IGL02096:Mmp17 APN 5 129,675,752 (GRCm39) nonsense probably null
IGL02160:Mmp17 APN 5 129,672,633 (GRCm39) missense possibly damaging 0.91
IGL03075:Mmp17 APN 5 129,672,138 (GRCm39) missense probably damaging 1.00
P0005:Mmp17 UTSW 5 129,673,695 (GRCm39) missense probably benign 0.00
R0125:Mmp17 UTSW 5 129,671,646 (GRCm39) missense possibly damaging 0.88
R0553:Mmp17 UTSW 5 129,675,734 (GRCm39) missense probably benign 0.30
R1521:Mmp17 UTSW 5 129,672,152 (GRCm39) splice site probably null
R1938:Mmp17 UTSW 5 129,679,190 (GRCm39) missense probably damaging 1.00
R2151:Mmp17 UTSW 5 129,682,725 (GRCm39) missense probably benign 0.01
R4908:Mmp17 UTSW 5 129,682,730 (GRCm39) nonsense probably null
R4970:Mmp17 UTSW 5 129,679,229 (GRCm39) missense possibly damaging 0.51
R5096:Mmp17 UTSW 5 129,682,627 (GRCm39) missense probably damaging 1.00
R5112:Mmp17 UTSW 5 129,679,229 (GRCm39) missense possibly damaging 0.51
R5178:Mmp17 UTSW 5 129,672,122 (GRCm39) missense probably damaging 1.00
R5304:Mmp17 UTSW 5 129,671,678 (GRCm39) missense probably null 0.89
R5341:Mmp17 UTSW 5 129,679,193 (GRCm39) missense possibly damaging 0.50
R6341:Mmp17 UTSW 5 129,679,019 (GRCm39) missense probably damaging 0.99
R6501:Mmp17 UTSW 5 129,683,469 (GRCm39) missense probably benign 0.00
R7257:Mmp17 UTSW 5 129,672,697 (GRCm39) missense probably benign 0.03
R7371:Mmp17 UTSW 5 129,682,836 (GRCm39) missense probably null 0.98
R7546:Mmp17 UTSW 5 129,673,653 (GRCm39) missense probably damaging 1.00
R8026:Mmp17 UTSW 5 129,672,148 (GRCm39) critical splice donor site probably null
R8370:Mmp17 UTSW 5 129,682,642 (GRCm39) missense probably damaging 1.00
R8525:Mmp17 UTSW 5 129,679,271 (GRCm39) missense probably damaging 1.00
R8708:Mmp17 UTSW 5 129,672,486 (GRCm39) missense possibly damaging 0.67
R8803:Mmp17 UTSW 5 129,675,773 (GRCm39) nonsense probably null
R8878:Mmp17 UTSW 5 129,683,378 (GRCm39) missense probably damaging 1.00
R8882:Mmp17 UTSW 5 129,679,008 (GRCm39) missense probably benign 0.00
R9399:Mmp17 UTSW 5 129,671,686 (GRCm39) nonsense probably null
R9404:Mmp17 UTSW 5 129,682,741 (GRCm39) missense possibly damaging 0.89
R9528:Mmp17 UTSW 5 129,683,392 (GRCm39) missense probably benign 0.00
W0251:Mmp17 UTSW 5 129,672,591 (GRCm39) missense probably benign 0.09
Y5377:Mmp17 UTSW 5 129,672,594 (GRCm39) missense probably damaging 1.00
Z1177:Mmp17 UTSW 5 129,672,725 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TCCAGAAAGGCATCAGGGAC -3'
(R):5'- TTATAGGTTCAGGCTGCTACTG -3'

Sequencing Primer
(F):5'- ATCAGGGACAGCTGGCCTC -3'
(R):5'- AGGGTCCCACCTACTCAGGAC -3'
Posted On 2014-06-23