Incidental Mutation 'R3899:Timp2'
ID 308889
Institutional Source Beutler Lab
Gene Symbol Timp2
Ensembl Gene ENSMUSG00000017466
Gene Name tissue inhibitor of metalloproteinase 2
Synonyms Timp-2, TIMP-2, D11Bwg1104e
MMRRC Submission 040809-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3899 (G1)
Quality Score 209
Status Validated
Chromosome 11
Chromosomal Location 118191887-118246237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118194542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 139 (D139N)
Ref Sequence ENSEMBL: ENSMUSP00000122642 (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: D216N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017610
Gene: ENSMUSG00000017466
AA Change: D216N

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
NTR 27 203 1.05e-135 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155707
AA Change: D139N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122642
Gene: ENSMUSG00000017466
AA Change: D139N

DomainStartEndE-ValueType
NTR 1 126 1.48e-71 SMART
Meta Mutation Damage Score 0.1214 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (62/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,399,157 (GRCm39) probably benign Het
Ahctf1 A G 1: 179,605,345 (GRCm39) S730P possibly damaging Het
Ankrd26 T A 6: 118,526,389 (GRCm39) R327S probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Apob A T 12: 8,065,849 (GRCm39) I4273F possibly damaging Het
Ascl1 G T 10: 87,328,435 (GRCm39) H172Q probably benign Het
Azi2 A G 9: 117,876,571 (GRCm39) Y29C probably damaging Het
Baz1a A G 12: 54,981,589 (GRCm39) M355T probably benign Het
Brs3 G A X: 56,092,616 (GRCm39) V367M possibly damaging Het
Ccdc33 T C 9: 57,940,200 (GRCm39) D524G probably damaging Het
Cd300lf T C 11: 115,015,177 (GRCm39) T138A probably damaging Het
Cemip2 A G 19: 21,829,598 (GRCm39) T1236A probably benign Het
Ces1g T C 8: 94,029,678 (GRCm39) Y518C probably damaging Het
Chek2 C T 5: 111,013,479 (GRCm39) probably benign Het
Cherp A G 8: 73,223,780 (GRCm39) I201T possibly damaging Het
Cntnap2 A T 6: 45,968,837 (GRCm39) H193L probably benign Het
Crim1 C A 17: 78,588,783 (GRCm39) T286N probably benign Het
Cwc27 T A 13: 104,929,023 (GRCm39) K307* probably null Het
Dbx2 T C 15: 95,530,313 (GRCm39) D218G possibly damaging Het
Dclk1 G A 3: 55,154,750 (GRCm39) R60Q probably damaging Het
Dnah17 A T 11: 117,985,634 (GRCm39) I1481N possibly damaging Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dpp10 A T 1: 123,281,286 (GRCm39) W588R probably damaging Het
Epg5 G A 18: 78,000,725 (GRCm39) E554K probably damaging Het
Eya1 T C 1: 14,340,971 (GRCm39) T139A probably benign Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Foxd3 A G 4: 99,545,736 (GRCm39) Y292C unknown Het
Gli1 C T 10: 127,172,535 (GRCm39) M202I possibly damaging Het
Gm973 T C 1: 59,664,299 (GRCm39) Y634H probably benign Het
Gpr132 G T 12: 112,815,728 (GRCm39) A366E probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 C T 15: 65,902,372 (GRCm39) M201I probably benign Het
Khdc3 T C 9: 73,011,628 (GRCm39) probably benign Het
Lrrc37a A G 11: 103,388,372 (GRCm39) V2351A unknown Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Mtr A T 13: 12,231,735 (GRCm39) N656K probably benign Het
Mtus1 T C 8: 41,536,166 (GRCm39) T517A probably benign Het
Osgep G C 14: 51,162,200 (GRCm39) N12K probably damaging Het
Pcare A T 17: 72,057,155 (GRCm39) C841S probably benign Het
Prdx3 T A 19: 60,853,621 (GRCm39) T235S probably benign Het
Rasa3 G A 8: 13,628,635 (GRCm39) H608Y probably benign Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Setd2 C T 9: 110,421,586 (GRCm39) R273W probably damaging Het
Slc24a1 A T 9: 64,835,426 (GRCm39) S900R probably damaging Het
Slc30a5 T C 13: 100,954,655 (GRCm39) M170V probably benign Het
Slc4a9 T C 18: 36,668,616 (GRCm39) V732A probably benign Het
Slc7a2 C T 8: 41,358,590 (GRCm39) T311M possibly damaging Het
Smarcc1 T C 9: 109,947,586 (GRCm39) probably benign Het
Stk32b A G 5: 37,614,498 (GRCm39) S337P probably damaging Het
Thop1 G A 10: 80,916,278 (GRCm39) G429S probably damaging Het
Tmem45a T C 16: 56,627,101 (GRCm39) E256G probably damaging Het
Tox4 T A 14: 52,517,299 (GRCm39) Y10N probably damaging Het
Trpm3 A G 19: 22,878,524 (GRCm39) M642V possibly damaging Het
Ttll10 T C 4: 156,120,257 (GRCm39) T508A probably damaging Het
Tut7 T A 13: 59,937,069 (GRCm39) K791* probably null Het
Ubash3b C T 9: 40,942,860 (GRCm39) D211N probably benign Het
Usp36 T A 11: 118,170,650 (GRCm39) D28V possibly damaging Het
Vmn2r97 T C 17: 19,167,873 (GRCm39) I709T probably damaging Het
Zfp936 T A 7: 42,839,158 (GRCm39) N207K possibly damaging Het
Zfp946 T G 17: 22,673,531 (GRCm39) I95S probably benign Het
Zhx3 A T 2: 160,622,371 (GRCm39) S599T possibly damaging Het
Other mutations in Timp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2508:Timp2 UTSW 11 118,201,412 (GRCm39) missense probably damaging 1.00
R3900:Timp2 UTSW 11 118,194,542 (GRCm39) missense probably damaging 0.99
R4366:Timp2 UTSW 11 118,201,497 (GRCm39) missense probably damaging 0.99
R4632:Timp2 UTSW 11 118,194,598 (GRCm39) missense probably benign 0.00
R5496:Timp2 UTSW 11 118,194,707 (GRCm39) missense probably benign 0.00
R5609:Timp2 UTSW 11 118,210,987 (GRCm39) missense probably damaging 1.00
R5646:Timp2 UTSW 11 118,208,358 (GRCm39) splice site probably null
R7733:Timp2 UTSW 11 118,208,355 (GRCm39) critical splice acceptor site probably null
R7737:Timp2 UTSW 11 118,194,721 (GRCm39) missense probably damaging 1.00
R7808:Timp2 UTSW 11 118,194,626 (GRCm39) missense probably damaging 1.00
R9525:Timp2 UTSW 11 118,194,678 (GRCm39) missense probably benign 0.00
Z1177:Timp2 UTSW 11 118,201,415 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCACTACCATGTCTAGGG -3'
(R):5'- AAACTAAACCTTCCTGCATGTG -3'

Sequencing Primer
(F):5'- CCACTACCATGTCTAGGGAAAATAGG -3'
(R):5'- AGATCACTCGCTGTCCCATG -3'
Posted On 2015-04-17