Incidental Mutation 'R7737:Timp2'
ID 596335
Institutional Source Beutler Lab
Gene Symbol Timp2
Ensembl Gene ENSMUSG00000017466
Gene Name tissue inhibitor of metalloproteinase 2
Synonyms Timp-2, D11Bwg1104e, TIMP-2
MMRRC Submission 045793-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7737 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 118301069-118355740 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118303895 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 156 (I156T)
Ref Sequence ENSEMBL: ENSMUSP00000017610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017610] [ENSMUST00000155707]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000017610
AA Change: I156T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017610
Gene: ENSMUSG00000017466
AA Change: I156T

low complexity region 3 26 N/A INTRINSIC
NTR 27 203 1.05e-135 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155707
AA Change: I79T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122642
Gene: ENSMUSG00000017466
AA Change: I79T

NTR 1 126 1.48e-71 SMART
Meta Mutation Damage Score 0.8366 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired activation of pro-matrix metalloproteinase-2, but appear phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik A G 13: 66,433,677 (GRCm38) probably null Het
9530053A07Rik T A 7: 28,157,073 (GRCm38) V2095E probably damaging Het
Adamts18 A T 8: 113,736,934 (GRCm38) probably null Het
Akap3 T A 6: 126,874,102 (GRCm38) M861K probably damaging Het
Ankrd42 T C 7: 92,605,262 (GRCm38) T380A possibly damaging Het
Arhgef5 A G 6: 43,273,794 (GRCm38) E493G possibly damaging Het
Armc4 A G 18: 7,217,890 (GRCm38) L608P probably damaging Het
Arvcf G A 16: 18,397,101 (GRCm38) R119Q probably damaging Het
Asmt T C X: 170,676,440 (GRCm38) F228S probably damaging Het
Atp2c2 T A 8: 119,742,395 (GRCm38) V349E probably damaging Het
BC034090 A G 1: 155,241,673 (GRCm38) V233A possibly damaging Het
Brinp3 G T 1: 146,682,594 (GRCm38) K85N probably damaging Het
Ccr6 G A 17: 8,245,094 (GRCm38) probably benign Het
D7Ertd443e A G 7: 134,270,201 (GRCm38) S644P probably damaging Het
Ddb1 C T 19: 10,625,974 (GRCm38) A882V possibly damaging Het
Epha4 C T 1: 77,381,012 (GRCm38) G783D probably damaging Het
Ephb1 T A 9: 101,984,103 (GRCm38) I621F probably damaging Het
Fbxw18 G T 9: 109,701,263 (GRCm38) Y93* probably null Het
Gak A C 5: 108,617,008 (GRCm38) L84R probably benign Het
Gm21671 AACT A 5: 25,950,851 (GRCm38) probably benign Het
Gm5458 A T 14: 19,599,737 (GRCm38) probably null Het
Gpatch3 C G 4: 133,575,096 (GRCm38) Q113E probably benign Het
Gpld1 C A 13: 24,975,726 (GRCm38) L426M probably damaging Het
Ighmbp2 G A 19: 3,274,467 (GRCm38) P234S unknown Het
Itga6 G A 2: 71,822,443 (GRCm38) V217I probably benign Het
Kdm7a A T 6: 39,144,404 (GRCm38) N872K probably benign Het
Klhl14 G T 18: 21,558,134 (GRCm38) Y446* probably null Het
Larp4b T A 13: 9,170,643 (GRCm38) probably null Het
Lct A T 1: 128,298,693 (GRCm38) W1320R probably benign Het
Lrp2 T C 2: 69,496,438 (GRCm38) D1763G possibly damaging Het
Lrrk2 A T 15: 91,815,446 (GRCm38) N2499Y probably damaging Het
Lsg1 T C 16: 30,581,185 (GRCm38) probably null Het
Mettl15 T C 2: 109,137,378 (GRCm38) K188E probably damaging Het
Mfsd4b1 A G 10: 40,003,278 (GRCm38) S208P probably damaging Het
Mlxipl T C 5: 135,135,381 (GRCm38) S793P possibly damaging Het
Ms4a14 G A 19: 11,302,786 (GRCm38) Q803* probably null Het
Mtor A C 4: 148,538,738 (GRCm38) E2015A possibly damaging Het
Myo15b A T 11: 115,887,923 (GRCm38) Y2581F unknown Het
Myo7b A T 18: 32,014,204 (GRCm38) Y95* probably null Het
Nf1 A G 11: 79,545,488 (GRCm38) I1985V probably benign Het
Noxred1 G A 12: 87,221,362 (GRCm38) Q332* probably null Het
Nudt21 A T 8: 94,022,833 (GRCm38) Y202N probably damaging Het
Olfr345 A T 2: 36,640,620 (GRCm38) I194F probably benign Het
Pik3c2a A T 7: 116,356,253 (GRCm38) S1176T probably damaging Het
Pramef17 A C 4: 143,991,956 (GRCm38) S306A possibly damaging Het
Rbmxl1 A G 8: 78,505,623 (GRCm38) S364P unknown Het
Rnf24 T A 2: 131,303,496 (GRCm38) K131N probably benign Het
Scai T A 2: 39,123,022 (GRCm38) Q132L probably damaging Het
Sh3tc1 T C 5: 35,723,953 (GRCm38) R49G probably benign Het
Slc12a7 A G 13: 73,788,677 (GRCm38) E152G probably benign Het
Slc22a27 A T 19: 7,896,762 (GRCm38) M316K probably damaging Het
Spag1 G T 15: 36,210,710 (GRCm38) A427S probably benign Het
Stk16 G T 1: 75,211,351 (GRCm38) C8F probably damaging Het
Syne2 T C 12: 75,942,848 (GRCm38) C1834R probably damaging Het
Tie1 C T 4: 118,478,857 (GRCm38) probably null Het
Tmem163 A G 1: 127,491,610 (GRCm38) M286T possibly damaging Het
Tmx4 T A 2: 134,639,668 (GRCm38) M112L probably benign Het
Trank1 G T 9: 111,366,012 (GRCm38) E1035* probably null Het
Trim5 C T 7: 104,279,564 (GRCm38) V57M probably damaging Het
Ubr3 A G 2: 69,991,566 (GRCm38) S1391G probably benign Het
Vmn1r72 A T 7: 11,669,707 (GRCm38) S271R probably damaging Het
Xpo5 G A 17: 46,236,090 (GRCm38) probably null Het
Zfp592 A T 7: 81,025,193 (GRCm38) H635L probably damaging Het
Zfp791 A T 8: 85,112,215 (GRCm38) N62K probably benign Het
Zmynd11 G A 13: 9,695,139 (GRCm38) T248M probably damaging Het
Other mutations in Timp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2508:Timp2 UTSW 11 118,310,586 (GRCm38) missense probably damaging 1.00
R3899:Timp2 UTSW 11 118,303,716 (GRCm38) missense probably damaging 0.99
R3900:Timp2 UTSW 11 118,303,716 (GRCm38) missense probably damaging 0.99
R4366:Timp2 UTSW 11 118,310,671 (GRCm38) missense probably damaging 0.99
R4632:Timp2 UTSW 11 118,303,772 (GRCm38) missense probably benign 0.00
R5496:Timp2 UTSW 11 118,303,881 (GRCm38) missense probably benign 0.00
R5609:Timp2 UTSW 11 118,320,161 (GRCm38) missense probably damaging 1.00
R5646:Timp2 UTSW 11 118,317,532 (GRCm38) splice site probably null
R7733:Timp2 UTSW 11 118,317,529 (GRCm38) critical splice acceptor site probably null
R7808:Timp2 UTSW 11 118,303,800 (GRCm38) missense probably damaging 1.00
R9525:Timp2 UTSW 11 118,303,852 (GRCm38) missense probably benign 0.00
Z1177:Timp2 UTSW 11 118,310,589 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-26