Incidental Mutation 'R8695:Thbs2'
ID 668655
Institutional Source Beutler Lab
Gene Symbol Thbs2
Ensembl Gene ENSMUSG00000023885
Gene Name thrombospondin 2
Synonyms Thrombospondin-2, Thbs-2, TSP2
MMRRC Submission 068549-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R8695 (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 A at 14899963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 638 (D638V)
Ref Sequence ENSEMBL: ENSMUSP00000128308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170872]
AlphaFold Q03350
Predicted Effect probably benign
Transcript: ENSMUST00000170872
AA Change: D638V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: D638V

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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524J17Rik A G 8: 86,138,870 (GRCm39) I73T probably benign Het
4930556J24Rik A G 11: 3,926,192 (GRCm39) probably benign Het
Ace A G 11: 105,875,971 (GRCm39) T1010A probably benign Het
Adam20 A T 8: 41,248,865 (GRCm39) Y325F probably benign Het
Aff4 A C 11: 53,259,509 (GRCm39) N7H probably damaging Het
Apob A T 12: 8,057,830 (GRCm39) D2104V probably damaging Het
Asap3 T C 4: 135,965,722 (GRCm39) S411P probably benign Het
Atxn1l C T 8: 110,458,462 (GRCm39) G600D probably damaging Het
Brd3 A T 2: 27,352,558 (GRCm39) M124K probably benign Het
Bsx A G 9: 40,785,484 (GRCm39) N4S probably damaging Het
Ccdc125 T C 13: 100,814,552 (GRCm39) I44T probably benign Het
Ccdc141 G A 2: 76,879,963 (GRCm39) T620I probably benign Het
Ccdc178 T A 18: 22,157,809 (GRCm39) I550F probably benign Het
Ccdc77 G T 6: 120,318,962 (GRCm39) T163N probably damaging Het
Cd55 A T 1: 130,380,273 (GRCm39) I235K probably benign Het
Cdc123 A T 2: 5,826,174 (GRCm39) M118K possibly damaging Het
Cep192 A T 18: 67,951,958 (GRCm39) K378* probably null Het
Chd7 C T 4: 8,850,812 (GRCm39) R1733C probably damaging Het
Crybg2 A T 4: 133,792,766 (GRCm39) S134C possibly damaging Het
Cyp2d26 A G 15: 82,676,907 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,085,299 (GRCm39) probably null Het
Dyrk2 A T 10: 118,696,922 (GRCm39) V112E probably benign Het
Eppk1 A G 15: 75,994,598 (GRCm39) L761P probably benign Het
Evpl T C 11: 116,114,489 (GRCm39) K1067R probably benign Het
Fancm C A 12: 65,171,947 (GRCm39) D1862E probably damaging Het
Fhl2 A G 1: 43,167,571 (GRCm39) V174A probably damaging Het
Gemin4 A T 11: 76,102,656 (GRCm39) C702S probably damaging Het
Ggnbp2 T A 11: 84,760,767 (GRCm39) D10V possibly damaging Het
Glul T C 1: 153,778,769 (GRCm39) V26A probably benign Het
Gml2 A G 15: 74,696,089 (GRCm39) N161S probably benign Het
Gnao1 C A 8: 94,682,795 (GRCm39) T327K probably damaging Het
Gpr179 A G 11: 97,227,124 (GRCm39) V1677A possibly damaging Het
Greb1l A T 18: 10,544,450 (GRCm39) H1348L probably benign Het
Grm8 T C 6: 28,126,030 (GRCm39) H32R probably benign Het
Hk2 T A 6: 82,716,627 (GRCm39) M302L probably benign Het
Hnrnpm C A 17: 33,877,884 (GRCm39) M333I probably benign Het
Hsd3b1 A G 3: 98,760,223 (GRCm39) I256T probably damaging Het
Irx5 G A 8: 93,087,327 (GRCm39) G420R probably damaging Het
Krt87 A G 15: 101,331,901 (GRCm39) V279A probably benign Het
Lamb2 G A 9: 108,363,365 (GRCm39) S848N probably benign Het
Lypd10 A T 7: 24,413,203 (GRCm39) H174L probably benign Het
Mc1r A T 8: 124,135,116 (GRCm39) T290S probably benign Het
Or10d4 A T 9: 39,580,376 (GRCm39) T8S probably benign Het
Or52n2c A T 7: 104,574,146 (GRCm39) V275D probably benign Het
Or52z1 A T 7: 103,436,729 (GRCm39) C252S possibly damaging Het
Or6c202 T A 10: 128,996,233 (GRCm39) T207S probably damaging Het
Pex6 T C 17: 47,022,975 (GRCm39) S184P probably damaging Het
Pglyrp3 A T 3: 91,933,762 (GRCm39) S136C probably null Het
Pik3r1 A G 13: 101,894,062 (GRCm39) S36P probably benign Het
Pomt2 G T 12: 87,156,790 (GRCm39) T782K probably benign Het
Ppfibp2 A G 7: 107,285,063 (GRCm39) probably benign Het
Prdm9 T C 17: 15,765,019 (GRCm39) H587R probably damaging Het
Prp2 A G 6: 132,576,932 (GRCm39) Q73R unknown Het
Psmb4 T C 3: 94,793,435 (GRCm39) N149D probably benign Het
Ptprj A T 2: 90,301,481 (GRCm39) I217N possibly damaging Het
Rasal3 A G 17: 32,611,736 (GRCm39) F797S possibly damaging Het
Rsrp1 T A 4: 134,652,610 (GRCm39) M188K probably damaging Het
Senp8 A G 9: 59,644,499 (GRCm39) I219T probably damaging Het
Serpinb10 A T 1: 107,468,630 (GRCm39) N91I probably damaging Het
Skint4 C T 4: 111,975,264 (GRCm39) R75C probably damaging Het
Slc25a48 C A 13: 56,612,825 (GRCm39) A241E probably damaging Het
Slc39a6 C A 18: 24,736,811 (GRCm39) probably benign Het
Smarcc1 G A 9: 110,002,972 (GRCm39) R354H probably damaging Het
Spata21 G C 4: 140,838,755 (GRCm39) probably null Het
Sptbn2 A G 19: 4,796,724 (GRCm39) E1774G possibly damaging Het
Tep1 A T 14: 51,082,894 (GRCm39) F1038Y possibly damaging Het
Tmem161a G T 8: 70,627,047 (GRCm39) C33F probably damaging Het
Trim47 T C 11: 116,000,926 (GRCm39) S41G probably benign Het
Trim56 T A 5: 137,143,429 (GRCm39) H29L probably benign Het
Ugt2b35 T A 5: 87,156,064 (GRCm39) H385Q probably damaging Het
Ugt2b37 T A 5: 87,390,243 (GRCm39) H401L probably benign Het
Usp44 A C 10: 93,682,365 (GRCm39) T272P probably damaging Het
Usp46 C T 5: 74,189,897 (GRCm39) E156K probably benign Het
Vmn1r232 T C 17: 21,134,109 (GRCm39) K164E probably benign Het
Zan T A 5: 137,385,217 (GRCm39) N5072I unknown Het
Zfp318 T C 17: 46,723,576 (GRCm39) S1860P probably benign Het
Zfp616 C T 11: 73,975,710 (GRCm39) R660W probably benign Het
Zfp870 C T 17: 33,102,679 (GRCm39) V217I 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
R7895:Thbs2 UTSW 17 14,896,483 (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
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'- GCCCTCTGCATGAAAACATCTG -3'
(R):5'- TCTGGAGAGAGGCTCACTTCTG -3'

Sequencing Primer
(F):5'- CCTCTGCATGAAAACATCTGGATTC -3'
(R):5'- AGAGAGGCTCACTTCTGTTTGTCC -3'
Posted On 2021-04-30