Incidental Mutation 'R3900:Timp2'
ID 308949
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 041607-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3900 (G1)
Quality Score 225
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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (45/46)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A T 13: 54,700,781 (GRCm39) S212R probably damaging Het
AI182371 T C 2: 34,975,228 (GRCm39) I334V probably benign Het
Anpep A G 7: 79,488,973 (GRCm39) S372P probably benign Het
Apc2 C A 10: 80,131,806 (GRCm39) probably null Het
Bcl6 T G 16: 23,796,304 (GRCm39) E41A possibly damaging Het
Brpf1 A G 6: 113,295,394 (GRCm39) I674V probably benign Het
Cherp A G 8: 73,223,780 (GRCm39) I201T possibly damaging Het
Cluh A G 11: 74,557,930 (GRCm39) H1056R probably benign Het
Csgalnact2 A T 6: 118,097,975 (GRCm39) F122I probably damaging Het
Cubn C A 2: 13,291,791 (GRCm39) probably null Het
Dnah17 A T 11: 117,985,634 (GRCm39) I1481N possibly damaging Het
Eif2ak4 A G 2: 118,305,510 (GRCm39) Y1561C probably damaging Het
Elfn1 G A 5: 139,957,719 (GRCm39) R241H probably damaging Het
Eml5 G A 12: 98,791,782 (GRCm39) R1245C probably damaging Het
Fchsd2 A G 7: 100,841,006 (GRCm39) K172E possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm6133 A G 18: 78,393,365 (GRCm39) N120D probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Igsf9 T C 1: 172,317,125 (GRCm39) L35P probably damaging Het
Khdc3 T C 9: 73,011,628 (GRCm39) probably benign Het
Mmrn2 G T 14: 34,121,517 (GRCm39) probably null Het
Mrgpra1 G T 7: 46,985,275 (GRCm39) R135S possibly damaging Het
Or4c11b A T 2: 88,625,273 (GRCm39) L182F possibly damaging Het
Or8g2b A G 9: 39,750,698 (GRCm39) probably null Het
Otud3 T C 4: 138,624,196 (GRCm39) N282S probably benign Het
Prkar1a A G 11: 109,551,901 (GRCm39) K130R probably benign Het
Rd3 T C 1: 191,717,217 (GRCm39) V114A probably damaging Het
Rictor T G 15: 6,818,954 (GRCm39) D1392E probably benign Het
Setd2 C T 9: 110,421,586 (GRCm39) R273W probably damaging Het
Slc22a18 C A 7: 143,033,507 (GRCm39) A86E probably damaging Het
Slc24a1 A T 9: 64,835,426 (GRCm39) S900R probably damaging Het
Smarcc1 T C 9: 109,947,586 (GRCm39) probably benign Het
Smoc1 T C 12: 81,214,287 (GRCm39) V234A probably damaging Het
Stard9 A G 2: 120,544,030 (GRCm39) T4443A possibly damaging Het
Trim69 A G 2: 122,009,322 (GRCm39) T461A probably benign Het
Ubash3b C T 9: 40,942,860 (GRCm39) D211N probably benign Het
Ubr4 T C 4: 139,206,373 (GRCm39) probably null Het
Ubr5 T C 15: 38,019,486 (GRCm39) D752G probably damaging Het
Urb1 A T 16: 90,580,264 (GRCm39) I633N possibly damaging Het
Usp36 T A 11: 118,170,650 (GRCm39) D28V possibly damaging Het
Wdr6 G A 9: 108,452,968 (GRCm39) A305V probably damaging Het
Zfp248 T C 6: 118,406,527 (GRCm39) N253S 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
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'- AGACCCACTACCATGTCTAGG -3'
(R):5'- ACTAAACCTTCCTGCATGTGTC -3'

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