Incidental Mutation 'R1424:Mmp16'
ID 161210
Institutional Source Beutler Lab
Gene Symbol Mmp16
Ensembl Gene ENSMUSG00000028226
Gene Name matrix metallopeptidase 16
Synonyms MT3-MMP, Membrane type 3-MMP
MMRRC Submission 039480-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1424 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 17853072-18117479 bp(+) (GRCm39)
Type of Mutation splice site (7 bp from exon)
DNA Base Change (assembly) A to G at 18112121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029881] [ENSMUST00000183662]
AlphaFold Q9WTR0
Predicted Effect probably null
Transcript: ENSMUST00000029881
SMART Domains Protein: ENSMUSP00000029881
Gene: ENSMUSG00000028226

DomainStartEndE-ValueType
Pfam:PG_binding_1 38 96 3e-11 PFAM
ZnMc 123 292 1.62e-54 SMART
low complexity region 313 336 N/A INTRINSIC
HX 347 390 1.36e-7 SMART
HX 392 436 3.61e-12 SMART
HX 439 485 1.86e-14 SMART
HX 487 532 4.96e-10 SMART
Pfam:DUF3377 537 607 6.6e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183662
SMART Domains Protein: ENSMUSP00000139102
Gene: ENSMUSG00000028226

DomainStartEndE-ValueType
Pfam:PG_binding_1 38 96 9.9e-12 PFAM
ZnMc 123 292 1.62e-54 SMART
low complexity region 313 336 N/A INTRINSIC
HX 347 390 1.36e-7 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.6%
Validation Efficiency 97% (57/59)
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 retarded growth of the skeleton, especially in the cranium and long bones. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. Mice homozygous for a null allele exhibit reduced skeletal growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik C A 12: 72,939,669 (GRCm39) E415* probably null Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acad12 C T 5: 121,742,385 (GRCm39) A408T probably benign Het
Acox2 T A 14: 8,230,247 (GRCm38) H632L probably benign Het
Anxa5 A T 3: 36,506,441 (GRCm39) probably null Het
Ap1m2 A T 9: 21,209,500 (GRCm39) I392N possibly damaging Het
Casp2 T C 6: 42,253,725 (GRCm39) probably benign Het
Cel C T 2: 28,449,636 (GRCm39) A243T probably damaging Het
Depp1 A G 6: 116,628,966 (GRCm39) N103S possibly damaging Het
Dgka A T 10: 128,569,202 (GRCm39) S177T possibly damaging Het
Dnajc6 A G 4: 101,496,544 (GRCm39) T836A possibly damaging Het
Dock3 T C 9: 106,790,392 (GRCm39) S1444G probably damaging Het
Dtl T C 1: 191,293,649 (GRCm39) D176G probably benign Het
Eif4g1 T C 16: 20,497,692 (GRCm39) I230T probably benign Het
Fam227a T A 15: 79,518,309 (GRCm39) I328F probably benign Het
Fam98a A G 17: 75,847,173 (GRCm39) L179S probably damaging Het
Fgb A T 3: 82,954,070 (GRCm39) I56N probably damaging Het
Fmo1 C T 1: 162,657,635 (GRCm39) R502Q probably damaging Het
Fndc3a C T 14: 72,811,811 (GRCm39) A340T probably damaging Het
Gli3 C A 13: 15,900,899 (GRCm39) Q1429K probably benign Het
Gm3443 A T 19: 21,534,959 (GRCm39) I75F possibly damaging Het
Gtpbp6 C T 5: 110,252,155 (GRCm39) probably null Het
Gtsf1 A T 15: 103,318,070 (GRCm39) Y156* probably null Het
Hmcn1 T C 1: 150,522,545 (GRCm39) T3452A probably benign Het
Kcnj10 T A 1: 172,196,822 (GRCm39) V112E probably damaging Het
Lama3 C A 18: 12,653,048 (GRCm39) T256K probably benign Het
Lrrc8d G A 5: 105,974,782 (GRCm39) V63M unknown Het
Matn3 G T 12: 9,011,132 (GRCm39) A348S possibly damaging Het
Nsd3 A G 8: 26,190,594 (GRCm39) N175S probably damaging Het
Or11h4 A T 14: 50,974,521 (GRCm39) F33I probably benign Het
Or1d2 C A 11: 74,255,780 (GRCm39) P95Q probably benign Het
Or4c35 C T 2: 89,808,415 (GRCm39) Q98* probably null Het
Or4k5 C A 14: 50,385,922 (GRCm39) M136I possibly damaging Het
Pcdhb12 T A 18: 37,571,132 (GRCm39) N759K probably benign Het
Pcsk2 T C 2: 143,415,348 (GRCm39) probably benign Het
Polq G A 16: 36,906,890 (GRCm39) D2284N probably damaging Het
Prdm12 C T 2: 31,533,823 (GRCm39) R147C probably damaging Het
Ptprz1 A G 6: 23,000,382 (GRCm39) D824G probably benign Het
Rere C T 4: 150,701,495 (GRCm39) R1292C probably damaging Het
Rptor T A 11: 119,671,419 (GRCm39) L294* probably null Het
Sbf2 A T 7: 109,914,233 (GRCm39) C1650S probably damaging Het
Sdk1 C T 5: 142,147,621 (GRCm39) T1751I probably damaging Het
Sh3bp1 T C 15: 78,787,899 (GRCm39) probably null Het
Shank2 T A 7: 143,606,109 (GRCm39) D97E probably damaging Het
Tab2 A C 10: 7,795,812 (GRCm39) S149R possibly damaging Het
Taok1 G T 11: 77,440,190 (GRCm39) R606S probably benign Het
Tas2r121 A G 6: 132,677,645 (GRCm39) L109P probably damaging Het
Tmem117 A G 15: 94,829,689 (GRCm39) M175V probably benign Het
Tmprss11b T C 5: 86,812,832 (GRCm39) K155E probably benign Het
Tmtc2 G T 10: 105,249,229 (GRCm39) T168N probably benign Het
Top2b G A 14: 16,383,177 (GRCm38) R55H probably damaging Het
Tsga10ip C T 19: 5,440,942 (GRCm39) probably null Het
Tuba8 A G 6: 121,197,470 (GRCm39) N44S probably benign Het
Ube2o A G 11: 116,434,558 (GRCm39) V590A probably benign Het
Ush2a T G 1: 188,275,075 (GRCm39) probably null Het
Vmn2r23 T A 6: 123,690,229 (GRCm39) Y368* probably null Het
Other mutations in Mmp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Mmp16 APN 4 18,011,784 (GRCm39) missense probably benign 0.03
IGL01074:Mmp16 APN 4 18,110,584 (GRCm39) splice site probably benign
IGL01125:Mmp16 APN 4 18,112,066 (GRCm39) missense possibly damaging 0.95
IGL01309:Mmp16 APN 4 18,116,185 (GRCm39) missense probably damaging 0.98
IGL01543:Mmp16 APN 4 18,051,743 (GRCm39) missense probably damaging 1.00
IGL02036:Mmp16 APN 4 18,093,371 (GRCm39) missense probably benign 0.00
IGL02252:Mmp16 APN 4 18,110,523 (GRCm39) missense probably damaging 1.00
IGL03037:Mmp16 APN 4 17,996,222 (GRCm39) missense probably damaging 0.98
R0483:Mmp16 UTSW 4 18,115,878 (GRCm39) splice site probably benign
R0565:Mmp16 UTSW 4 17,987,705 (GRCm39) missense probably damaging 1.00
R0885:Mmp16 UTSW 4 18,054,491 (GRCm39) missense probably benign 0.12
R0966:Mmp16 UTSW 4 18,115,930 (GRCm39) missense probably benign 0.31
R1158:Mmp16 UTSW 4 17,987,726 (GRCm39) splice site probably null
R1290:Mmp16 UTSW 4 18,051,725 (GRCm39) missense probably damaging 1.00
R1326:Mmp16 UTSW 4 18,054,517 (GRCm39) missense possibly damaging 0.61
R1345:Mmp16 UTSW 4 18,112,021 (GRCm39) missense probably benign 0.01
R1610:Mmp16 UTSW 4 18,011,582 (GRCm39) missense probably benign 0.00
R1722:Mmp16 UTSW 4 18,051,767 (GRCm39) missense probably damaging 1.00
R1867:Mmp16 UTSW 4 18,116,013 (GRCm39) missense probably benign 0.00
R2354:Mmp16 UTSW 4 18,112,001 (GRCm39) missense probably damaging 1.00
R2431:Mmp16 UTSW 4 18,054,491 (GRCm39) missense probably benign 0.12
R2992:Mmp16 UTSW 4 18,011,657 (GRCm39) missense probably damaging 1.00
R5245:Mmp16 UTSW 4 18,054,596 (GRCm39) intron probably benign
R5534:Mmp16 UTSW 4 18,110,452 (GRCm39) missense probably damaging 0.99
R5941:Mmp16 UTSW 4 18,054,354 (GRCm39) splice site probably benign
R5961:Mmp16 UTSW 4 17,853,842 (GRCm39) missense probably benign 0.37
R6160:Mmp16 UTSW 4 18,051,857 (GRCm39) missense probably damaging 1.00
R6514:Mmp16 UTSW 4 18,116,123 (GRCm39) missense probably damaging 1.00
R6570:Mmp16 UTSW 4 18,011,501 (GRCm39) missense possibly damaging 0.64
R6866:Mmp16 UTSW 4 17,853,800 (GRCm39) missense probably benign 0.23
R7037:Mmp16 UTSW 4 18,116,148 (GRCm39) missense possibly damaging 0.95
R7168:Mmp16 UTSW 4 18,110,550 (GRCm39) missense probably damaging 1.00
R7268:Mmp16 UTSW 4 18,093,366 (GRCm39) missense probably benign
R7635:Mmp16 UTSW 4 18,054,382 (GRCm39) missense probably benign 0.00
R7799:Mmp16 UTSW 4 18,112,112 (GRCm39) missense probably damaging 0.97
R8179:Mmp16 UTSW 4 17,853,854 (GRCm39) critical splice donor site probably null
R8767:Mmp16 UTSW 4 18,051,714 (GRCm39) splice site probably benign
R8859:Mmp16 UTSW 4 18,054,355 (GRCm39) splice site probably benign
R8889:Mmp16 UTSW 4 18,051,820 (GRCm39) missense probably damaging 1.00
R8892:Mmp16 UTSW 4 18,051,820 (GRCm39) missense probably damaging 1.00
R9023:Mmp16 UTSW 4 17,996,202 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAATTGCTCCAGTAATGGCAATCAGTAATG -3'
(R):5'- TGGCTAAACTTAGGATAGTGTCTTTGGGAA -3'

Sequencing Primer
(F):5'- CACAGGAAGGAACCATCATTTAG -3'
(R):5'- GTGAGTTTATCAGGTTACTAAAAGGG -3'
Posted On 2014-03-14