Incidental Mutation 'R7895:Thbs2'
ID 609639
Institutional Source Beutler Lab
Gene Symbol Thbs2
Ensembl Gene ENSMUSG00000023885
Gene Name thrombospondin 2
Synonyms Thrombospondin-2, Thbs-2, TSP2
MMRRC Submission 045947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R7895 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 14885762-14914497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 14896483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 802 (D802A)
Ref Sequence ENSEMBL: ENSMUSP00000128308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170872]
AlphaFold Q03350
Predicted Effect probably damaging
Transcript: ENSMUST00000170872
AA Change: D802A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: D802A

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
TSPN 21 215 3.8e-60 SMART
VWC 320 374 3.55e-19 SMART
TSP1 384 431 3.36e-11 SMART
TSP1 440 492 1.35e-15 SMART
TSP1 497 549 8.6e-18 SMART
EGF 552 589 6.3e-3 SMART
EGF 593 647 1.56e1 SMART
EGF 651 692 2.19e-2 SMART
Pfam:TSP_3 729 764 2.5e-12 PFAM
Pfam:TSP_3 763 787 7.4e-7 PFAM
Pfam:TSP_3 788 823 9.4e-12 PFAM
Pfam:TSP_3 823 846 4.1e-7 PFAM
Pfam:TSP_3 847 884 1.7e-12 PFAM
Pfam:TSP_3 885 920 1.3e-11 PFAM
Pfam:TSP_3 921 956 3.1e-11 PFAM
Pfam:TSP_C 974 1171 1e-98 PFAM
Meta Mutation Damage Score 0.9669 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (92/93)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display premature death, abnormal tails, marked structural and functional abnormalities in a variety of connective tissues including skin, tendon, bone, and blood vessels, accelerated wound healing, and enhanced susceptibility to experimental skin tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,106,295 (GRCm39) S143T probably benign Het
9030624G23Rik A T 12: 24,094,724 (GRCm39) M149K unknown Het
Aadacl4fm4 A T 4: 144,396,913 (GRCm39) I273K possibly damaging Het
Agpat3 T A 10: 78,119,034 (GRCm39) I187F probably benign Het
Ahcyl1 C T 3: 107,576,467 (GRCm39) A332T probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Ap5z1 T A 5: 142,456,313 (GRCm39) probably null Het
Apob A T 12: 8,061,933 (GRCm39) I3472F probably benign Het
Arhgef33 C T 17: 80,680,914 (GRCm39) P685S probably benign Het
Arhgef4 T C 1: 34,845,478 (GRCm39) I130T probably damaging Het
Arnt2 A T 7: 83,954,406 (GRCm39) F263I probably benign Het
Bbof1 A G 12: 84,466,763 (GRCm39) R177G probably damaging Het
Bbs2 C A 8: 94,807,764 (GRCm39) G372W probably damaging Het
Blmh T A 11: 76,836,721 (GRCm39) probably null Het
Ccdc30 A T 4: 119,209,910 (GRCm39) probably null Het
Cdca7l G T 12: 117,837,467 (GRCm39) L219F probably damaging Het
Cenpu C A 8: 47,015,499 (GRCm39) A138E probably benign Het
Cfap65 T A 1: 74,972,321 (GRCm39) T13S probably benign Het
Clasp2 A G 9: 113,733,016 (GRCm39) M951V probably benign Het
Clca4a A G 3: 144,674,166 (GRCm39) S190P probably benign Het
Clcn4 A G 7: 7,298,167 (GRCm39) V74A probably benign Het
Cntln C T 4: 84,981,561 (GRCm39) T913M possibly damaging Het
Cntnap4 T A 8: 113,478,829 (GRCm39) V185E probably damaging Het
Col26a1 C T 5: 136,777,031 (GRCm39) probably null Het
Ctcf A T 8: 106,390,690 (GRCm39) Q99L possibly damaging Het
Dgke T C 11: 88,931,682 (GRCm39) Q524R probably damaging Het
Dhrs7 A T 12: 72,699,234 (GRCm39) probably null Het
Dnah7b T C 1: 46,289,110 (GRCm39) Y2969H probably damaging Het
Dync1h1 T G 12: 110,582,891 (GRCm39) I358S probably damaging Het
Efcab3 A C 11: 105,008,150 (GRCm39) D410A probably benign Het
Emilin2 T C 17: 71,580,908 (GRCm39) D606G probably benign Het
Ermard C T 17: 15,283,875 (GRCm39) T622I possibly damaging Het
Exo1 A G 1: 175,728,562 (GRCm39) D542G probably benign Het
Fgd5 A T 6: 91,964,262 (GRCm39) D165V probably benign Het
Gdap1 T C 1: 17,231,368 (GRCm39) W238R probably damaging Het
Gm11096 T G 17: 81,749,328 (GRCm39) I7M unknown Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gmppb A T 9: 107,927,770 (GRCm39) M175L probably benign Het
Gorasp2 G A 2: 70,514,442 (GRCm39) S273N probably benign Het
Gtf3c1 T C 7: 125,271,994 (GRCm39) M642V possibly damaging Het
Hmx2 T A 7: 131,157,600 (GRCm39) L238Q probably damaging Het
Kif13b A G 14: 64,973,598 (GRCm39) D316G probably damaging Het
Kmt2c A G 5: 25,578,174 (GRCm39) S701P possibly damaging Het
Lama4 T A 10: 38,964,325 (GRCm39) N1332K probably damaging Het
Lrp2 T C 2: 69,288,823 (GRCm39) D3681G probably damaging Het
Maml3 G T 3: 51,605,143 (GRCm39) P722Q probably damaging Het
Mier2 C A 10: 79,377,719 (GRCm39) probably benign Het
Ms4a15 A T 19: 10,956,694 (GRCm39) probably null Het
Msh5 T C 17: 35,263,355 (GRCm39) M158V probably benign Het
Nova2 A T 7: 18,676,270 (GRCm39) K136I Het
Npm1 A T 11: 33,106,001 (GRCm39) probably null Het
Nr4a3 T A 4: 48,051,390 (GRCm39) M48K probably benign Het
Nrap T G 19: 56,342,584 (GRCm39) T806P probably benign Het
Ntf3 G A 6: 126,079,203 (GRCm39) T101M probably benign Het
Or2aj4 G A 16: 19,385,472 (GRCm39) R54* probably null Het
Paxbp1 T A 16: 90,822,166 (GRCm39) D648V probably damaging Het
Pcdhb18 T A 18: 37,623,520 (GRCm39) D283E probably benign Het
Phrf1 C A 7: 140,839,288 (GRCm39) Q828K unknown Het
Pigq A T 17: 26,156,299 (GRCm39) I43N probably benign Het
Pou6f2 G T 13: 18,300,033 (GRCm39) T542K Het
Ppfibp2 T A 7: 107,320,524 (GRCm39) probably null Het
Rab1b A T 19: 5,150,524 (GRCm39) M163K probably benign Het
Ralgapa1 A G 12: 55,793,934 (GRCm39) M567T probably benign Het
Reck T C 4: 43,890,970 (GRCm39) V36A probably benign Het
Resp18 C T 1: 75,254,846 (GRCm39) D36N probably null Het
Rint1 A C 5: 24,005,720 (GRCm39) H134P probably damaging Het
Rps19 A T 7: 24,587,764 (GRCm39) K77M possibly damaging Het
Sec24b A T 3: 129,789,598 (GRCm39) S808T probably benign Het
Sema4c A C 1: 36,592,199 (GRCm39) V216G probably damaging Het
Septin10 T A 10: 59,016,871 (GRCm39) T218S probably benign Het
Septin3 A T 15: 82,170,020 (GRCm39) H182L probably benign Het
Sipa1 A G 19: 5,702,690 (GRCm39) S836P probably benign Het
Slc9a5 A G 8: 106,089,998 (GRCm39) K652R probably damaging Het
Slco5a1 T A 1: 13,059,927 (GRCm39) I265F possibly damaging Het
Snapc5 T A 9: 64,086,614 (GRCm39) M1K probably null Het
Snx5 T A 2: 144,095,740 (GRCm39) D307V possibly damaging Het
Srebf2 A T 15: 82,061,441 (GRCm39) M381L probably benign Het
Ssh2 G C 11: 77,345,452 (GRCm39) E1146Q probably benign Het
Suco A T 1: 161,672,937 (GRCm39) probably null Het
Tanc2 T A 11: 105,812,651 (GRCm39) L1365Q probably damaging Het
Tas1r3 A G 4: 155,947,005 (GRCm39) L200P probably damaging Het
Trav3-1 G A 14: 52,818,550 (GRCm39) V75M probably benign Het
Trim9 G A 12: 70,301,961 (GRCm39) P559L probably benign Het
Trpc6 G A 9: 8,655,219 (GRCm39) G683D probably damaging Het
Unc5b C A 10: 60,615,509 (GRCm39) V164L possibly damaging Het
Usf3 A T 16: 44,036,565 (GRCm39) R348S possibly damaging Het
Vmn1r236 T C 17: 21,507,728 (GRCm39) V282A possibly damaging Het
Vmn2r1 A G 3: 63,997,130 (GRCm39) E262G possibly damaging Het
Xirp2 A G 2: 67,339,841 (GRCm39) E694G probably damaging Het
Xpo4 T A 14: 57,840,048 (GRCm39) H572L probably benign Het
Zfhx4 A G 3: 5,307,259 (GRCm39) T162A probably benign Het
Zfp110 T A 7: 12,571,020 (GRCm39) H59Q possibly damaging Het
Other mutations in Thbs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Thbs2 APN 17 14,889,097 (GRCm39) missense probably damaging 1.00
IGL00764:Thbs2 APN 17 14,910,514 (GRCm39) missense probably damaging 0.98
IGL01370:Thbs2 APN 17 14,910,327 (GRCm39) missense possibly damaging 0.82
IGL01604:Thbs2 APN 17 14,899,031 (GRCm39) missense probably benign 0.31
IGL01936:Thbs2 APN 17 14,908,076 (GRCm39) missense probably benign 0.00
IGL02061:Thbs2 APN 17 14,900,176 (GRCm39) missense probably benign 0.35
IGL02255:Thbs2 APN 17 14,910,047 (GRCm39) missense probably benign 0.00
IGL02342:Thbs2 APN 17 14,896,578 (GRCm39) missense probably damaging 1.00
IGL02402:Thbs2 APN 17 14,891,716 (GRCm39) missense probably benign 0.01
IGL02499:Thbs2 APN 17 14,904,328 (GRCm39) splice site probably benign
IGL02572:Thbs2 APN 17 14,897,275 (GRCm39) missense possibly damaging 0.72
IGL02701:Thbs2 APN 17 14,903,623 (GRCm39) missense probably benign 0.05
IGL02871:Thbs2 APN 17 14,906,048 (GRCm39) missense probably benign
IGL03058:Thbs2 APN 17 14,910,231 (GRCm39) missense possibly damaging 0.91
IGL03185:Thbs2 APN 17 14,901,672 (GRCm39) nonsense probably null
IGL03232:Thbs2 APN 17 14,911,675 (GRCm39) start codon destroyed probably null
IGL03289:Thbs2 APN 17 14,910,384 (GRCm39) missense probably benign 0.00
IGL03407:Thbs2 APN 17 14,893,535 (GRCm39) missense probably benign 0.00
H8562:Thbs2 UTSW 17 14,891,715 (GRCm39) missense probably benign 0.00
IGL02802:Thbs2 UTSW 17 14,904,389 (GRCm39) missense probably benign 0.01
PIT4354001:Thbs2 UTSW 17 14,910,230 (GRCm39) missense probably damaging 0.99
R0088:Thbs2 UTSW 17 14,901,963 (GRCm39) missense possibly damaging 0.96
R0167:Thbs2 UTSW 17 14,887,787 (GRCm39) splice site probably benign
R0415:Thbs2 UTSW 17 14,900,235 (GRCm39) missense probably benign
R0658:Thbs2 UTSW 17 14,900,587 (GRCm39) missense probably benign 0.00
R0735:Thbs2 UTSW 17 14,900,077 (GRCm39) missense probably benign 0.00
R1582:Thbs2 UTSW 17 14,891,550 (GRCm39) missense probably damaging 1.00
R1585:Thbs2 UTSW 17 14,910,030 (GRCm39) missense probably benign 0.00
R1608:Thbs2 UTSW 17 14,906,043 (GRCm39) missense probably benign
R1721:Thbs2 UTSW 17 14,899,072 (GRCm39) missense probably benign 0.00
R1724:Thbs2 UTSW 17 14,906,162 (GRCm39) missense possibly damaging 0.80
R1791:Thbs2 UTSW 17 14,906,075 (GRCm39) missense probably benign
R1816:Thbs2 UTSW 17 14,890,976 (GRCm39) missense probably benign 0.00
R1816:Thbs2 UTSW 17 14,890,975 (GRCm39) missense probably benign 0.01
R1911:Thbs2 UTSW 17 14,910,104 (GRCm39) missense probably benign 0.38
R2137:Thbs2 UTSW 17 14,893,568 (GRCm39) missense probably damaging 1.00
R2152:Thbs2 UTSW 17 14,893,471 (GRCm39) missense probably damaging 1.00
R2244:Thbs2 UTSW 17 14,891,675 (GRCm39) missense probably damaging 1.00
R2325:Thbs2 UTSW 17 14,910,551 (GRCm39) splice site probably null
R2509:Thbs2 UTSW 17 14,906,105 (GRCm39) missense probably benign 0.11
R3838:Thbs2 UTSW 17 14,908,113 (GRCm39) missense probably benign
R4173:Thbs2 UTSW 17 14,901,893 (GRCm39) splice site probably null
R4427:Thbs2 UTSW 17 14,900,597 (GRCm39) missense probably benign
R4495:Thbs2 UTSW 17 14,891,675 (GRCm39) missense probably damaging 1.00
R4789:Thbs2 UTSW 17 14,891,750 (GRCm39) missense probably damaging 1.00
R4928:Thbs2 UTSW 17 14,899,162 (GRCm39) missense probably damaging 1.00
R5058:Thbs2 UTSW 17 14,896,591 (GRCm39) missense probably damaging 1.00
R5112:Thbs2 UTSW 17 14,890,852 (GRCm39) splice site probably null
R5619:Thbs2 UTSW 17 14,901,506 (GRCm39) missense probably damaging 1.00
R5649:Thbs2 UTSW 17 14,910,215 (GRCm39) missense probably damaging 1.00
R5664:Thbs2 UTSW 17 14,910,099 (GRCm39) missense probably damaging 1.00
R5801:Thbs2 UTSW 17 14,908,125 (GRCm39) missense probably damaging 1.00
R5816:Thbs2 UTSW 17 14,904,333 (GRCm39) critical splice donor site probably null
R5840:Thbs2 UTSW 17 14,901,692 (GRCm39) splice site probably null
R6149:Thbs2 UTSW 17 14,899,942 (GRCm39) critical splice donor site probably null
R6166:Thbs2 UTSW 17 14,900,650 (GRCm39) missense probably damaging 1.00
R6412:Thbs2 UTSW 17 14,897,339 (GRCm39) missense probably damaging 1.00
R6473:Thbs2 UTSW 17 14,906,058 (GRCm39) missense probably benign 0.23
R6640:Thbs2 UTSW 17 14,893,630 (GRCm39) missense possibly damaging 0.94
R6695:Thbs2 UTSW 17 14,894,426 (GRCm39) missense possibly damaging 0.54
R6711:Thbs2 UTSW 17 14,910,527 (GRCm39) missense probably benign 0.00
R6947:Thbs2 UTSW 17 14,910,029 (GRCm39) missense possibly damaging 0.79
R6962:Thbs2 UTSW 17 14,902,082 (GRCm39) missense probably benign 0.00
R7183:Thbs2 UTSW 17 14,910,378 (GRCm39) missense possibly damaging 0.90
R7203:Thbs2 UTSW 17 14,891,720 (GRCm39) missense probably damaging 1.00
R7386:Thbs2 UTSW 17 14,893,412 (GRCm39) missense possibly damaging 0.95
R7621:Thbs2 UTSW 17 14,894,426 (GRCm39) missense probably benign
R7747:Thbs2 UTSW 17 14,890,301 (GRCm39) missense possibly damaging 0.94
R7759:Thbs2 UTSW 17 14,897,321 (GRCm39) missense probably damaging 1.00
R7800:Thbs2 UTSW 17 14,896,558 (GRCm39) missense probably damaging 1.00
R8094:Thbs2 UTSW 17 14,900,584 (GRCm39) missense probably benign 0.00
R8332:Thbs2 UTSW 17 14,900,032 (GRCm39) missense probably damaging 1.00
R8478:Thbs2 UTSW 17 14,900,666 (GRCm39) missense probably benign 0.00
R8695:Thbs2 UTSW 17 14,899,963 (GRCm39) missense probably benign
R8707:Thbs2 UTSW 17 14,911,645 (GRCm39) missense probably damaging 1.00
R9001:Thbs2 UTSW 17 14,889,007 (GRCm39) missense probably damaging 1.00
R9075:Thbs2 UTSW 17 14,900,587 (GRCm39) missense probably benign 0.00
R9183:Thbs2 UTSW 17 14,896,526 (GRCm39) missense probably benign 0.03
R9461:Thbs2 UTSW 17 14,910,435 (GRCm39) missense probably damaging 1.00
R9462:Thbs2 UTSW 17 14,890,243 (GRCm39) missense probably damaging 1.00
R9536:Thbs2 UTSW 17 14,910,147 (GRCm39) missense probably damaging 1.00
R9592:Thbs2 UTSW 17 14,899,083 (GRCm39) missense probably damaging 1.00
S24628:Thbs2 UTSW 17 14,900,235 (GRCm39) missense probably benign
X0025:Thbs2 UTSW 17 14,902,062 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CAGCATGGTAAAGGTCTGGG -3'
(R):5'- TCTTATGGCAGCCTGATTGC -3'

Sequencing Primer
(F):5'- CAGCTCTGTGGCTAAAAGTGC -3'
(R):5'- CAGCCTGATTGCCTGGTCTG -3'
Posted On 2019-12-20