Incidental Mutation 'R5609:Timp2'
ID 437984
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 043158-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5609 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 118191887-118246237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118210987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 60 (D60V)
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: D60V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017610
Gene: ENSMUSG00000017466
AA Change: D60V

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
NTR 27 203 1.05e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155707
SMART Domains Protein: ENSMUSP00000122642
Gene: ENSMUSG00000017466

DomainStartEndE-ValueType
NTR 1 126 1.48e-71 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,353,874 (GRCm39) I3732T probably benign Het
Ago1 C A 4: 126,354,830 (GRCm39) K127N possibly damaging Het
Akap8l T C 17: 32,557,374 (GRCm39) N79S probably damaging Het
Ano5 T C 7: 51,243,385 (GRCm39) L836P probably damaging Het
AY358078 A G 14: 52,042,065 (GRCm39) T147A unknown Het
Cabp4 T C 19: 4,189,251 (GRCm39) D102G probably benign Het
Cdc34 C T 10: 79,520,655 (GRCm39) R61C probably damaging Het
Chac1 A G 2: 119,181,887 (GRCm39) K2E unknown Het
Cltc C T 11: 86,621,093 (GRCm39) V305I probably damaging Het
Cog7 T C 7: 121,524,683 (GRCm39) T704A probably benign Het
Cux1 A G 5: 136,421,174 (GRCm39) V184A probably damaging Het
Daglb A T 5: 143,464,274 (GRCm39) T262S probably benign Het
Dglucy A G 12: 100,753,905 (GRCm39) I12V probably null Het
Dnah7a A G 1: 53,621,753 (GRCm39) V1124A probably benign Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Eif3k C A 7: 28,681,133 (GRCm39) A9S probably benign Het
Elapor1 T A 3: 108,378,731 (GRCm39) I408F probably damaging Het
Gli3 A T 13: 15,723,038 (GRCm39) M60L possibly damaging Het
Hk1 C T 10: 62,178,330 (GRCm39) E4K probably benign Het
Kmt2b C A 7: 30,276,570 (GRCm39) V1701L probably damaging Het
Lrp1b T C 2: 41,231,807 (GRCm39) H1107R probably damaging Het
Lypd10 A T 7: 24,413,711 (GRCm39) R242S possibly damaging Het
Ncor1 A G 11: 62,249,679 (GRCm39) probably null Het
Or5h23 T A 16: 58,906,439 (GRCm39) M136L possibly damaging Het
Or6c70 T G 10: 129,710,607 (GRCm39) R6S probably benign Het
Plekhg4 G A 8: 106,106,134 (GRCm39) probably null Het
Pmfbp1 G T 8: 110,251,739 (GRCm39) E327D probably damaging Het
Slc22a17 G A 14: 55,146,427 (GRCm39) P63L probably damaging Het
Slc37a1 G A 17: 31,556,982 (GRCm39) V383M possibly damaging Het
Slc9a9 T A 9: 94,691,990 (GRCm39) Y182N probably damaging Het
Slx4ip A G 2: 136,842,162 (GRCm39) D29G probably damaging Het
St3gal5 T C 6: 72,130,446 (GRCm39) V319A possibly damaging Het
Tbc1d10c C T 19: 4,239,881 (GRCm39) M76I possibly damaging Het
Thrb C A 14: 18,033,526 (GRCm38) H416N probably benign Het
Ubxn6 C T 17: 56,376,745 (GRCm39) E216K probably benign Het
Unc79 T C 12: 103,094,527 (GRCm39) M1977T probably benign Het
Uri1 G A 7: 37,662,954 (GRCm39) R347* probably null Het
Vmn1r73 G A 7: 11,490,591 (GRCm39) W136* probably null Het
Vmn2r124 T C 17: 18,294,102 (GRCm39) Y730H probably benign Het
Wnk4 C T 11: 101,166,462 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,468,679 (GRCm39) N2971D probably damaging Het
Other mutations in Timp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2508:Timp2 UTSW 11 118,201,412 (GRCm39) missense probably damaging 1.00
R3899:Timp2 UTSW 11 118,194,542 (GRCm39) missense probably damaging 0.99
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
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'- CACGTAACATTTCTGCCTGGC -3'
(R):5'- TCCTTGCTTATGACAAGACAGG -3'

Sequencing Primer
(F):5'- ACGTAACATTTCTGCCTGGCTTTTG -3'
(R):5'- GGAGTCTCCTCTGATCCCTC -3'
Posted On 2016-10-26