Incidental Mutation 'R0415:Thbs2'
ID 40283
Institutional Source Beutler Lab
Gene Symbol Thbs2
Ensembl Gene ENSMUSG00000023885
Gene Name thrombospondin 2
Synonyms Thrombospondin-2, Thbs-2, TSP2
MMRRC Submission 038617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R0415 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 14885762-14914497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 14900235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 573 (S573A)
Ref Sequence ENSEMBL: ENSMUSP00000128308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170872]
AlphaFold Q03350
Predicted Effect probably benign
Transcript: ENSMUST00000170872
AA Change: S573A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: S573A

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 0.1162 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (99/102)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427G23Rik A T 5: 24,036,048 (GRCm39) noncoding transcript Het
Acox2 A G 14: 8,243,835 (GRCm38) probably benign Het
Adgb T C 10: 10,306,811 (GRCm39) probably null Het
Adgra3 C A 5: 50,119,099 (GRCm39) probably benign Het
Adgre4 G A 17: 56,159,288 (GRCm39) V658I probably benign Het
Ahnak A G 19: 8,990,235 (GRCm39) probably benign Het
Anapc2 A G 2: 25,168,337 (GRCm39) T159A probably damaging Het
Arfgef3 A G 10: 18,488,875 (GRCm39) probably benign Het
Atf7ip C T 6: 136,537,010 (GRCm39) S81L possibly damaging Het
Cacna1i A G 15: 80,253,031 (GRCm39) probably benign Het
Camk1 A T 6: 113,318,852 (GRCm39) Y20* probably null Het
Ccdc40 T C 11: 119,122,944 (GRCm39) Y249H possibly damaging Het
Cd109 T A 9: 78,619,897 (GRCm39) S1380T probably benign Het
Cfap57 A T 4: 118,426,628 (GRCm39) L1107Q possibly damaging Het
Col6a4 C T 9: 105,952,279 (GRCm39) V540I probably damaging Het
Cst9 T A 2: 148,680,362 (GRCm39) probably benign Het
Cul5 C T 9: 53,578,370 (GRCm39) V73I probably benign Het
Cxcl16 T A 11: 70,349,574 (GRCm39) K84* probably null Het
Cyp2c29 T C 19: 39,317,539 (GRCm39) probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dip2c C T 13: 9,618,325 (GRCm39) probably benign Het
Dis3 A T 14: 99,324,892 (GRCm39) I513N probably damaging Het
Dnajc16 A T 4: 141,516,359 (GRCm39) L3* probably null Het
Dop1a T A 9: 86,388,555 (GRCm39) L480M probably damaging Het
Eml6 A G 11: 29,699,392 (GRCm39) V1787A possibly damaging Het
Etnk1 A G 6: 143,126,500 (GRCm39) N115S probably damaging Het
Fryl T C 5: 73,255,757 (GRCm39) Y758C probably damaging Het
Gbp4 G A 5: 105,268,972 (GRCm39) R394C possibly damaging Het
Ggnbp2 A C 11: 84,724,051 (GRCm39) probably benign Het
Gm7137 A G 10: 77,624,007 (GRCm39) probably benign Het
Gstm2 T A 3: 107,891,322 (GRCm39) Q132L probably benign Het
Habp2 T C 19: 56,306,149 (GRCm39) probably benign Het
Hectd2 T C 19: 36,562,284 (GRCm39) probably benign Het
Htr6 A G 4: 138,789,392 (GRCm39) I291T possibly damaging Het
Ighg2c T C 12: 113,251,530 (GRCm39) D199G unknown Het
Itih2 A G 2: 10,110,426 (GRCm39) probably benign Het
Kcnab2 A G 4: 152,479,593 (GRCm39) F248S probably benign Het
Kcnc4 T C 3: 107,352,749 (GRCm39) K610E probably damaging Het
Kcnk16 T A 14: 20,313,043 (GRCm39) probably null Het
Kndc1 C T 7: 139,510,037 (GRCm39) T1293I probably damaging Het
Lcp1 A T 14: 75,464,446 (GRCm39) I556F possibly damaging Het
Lrrc8d T C 5: 105,959,731 (GRCm39) L47P probably damaging Het
Lyset T A 12: 102,711,135 (GRCm39) Y119* probably null Het
Lyst T C 13: 13,886,195 (GRCm39) probably benign Het
Macrod2 G A 2: 142,052,065 (GRCm39) probably null Het
Mical2 C T 7: 111,980,235 (GRCm39) R70C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCT 4: 87,759,576 (GRCm39) probably benign Het
Msh3 A G 13: 92,483,294 (GRCm39) V283A possibly damaging Het
Nup205 T C 6: 35,191,569 (GRCm39) probably benign Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or51e2 C T 7: 102,391,294 (GRCm39) M305I probably benign Het
Or5m10 A T 2: 85,717,782 (GRCm39) I213F possibly damaging Het
Or5m9 A T 2: 85,877,399 (GRCm39) H191L probably benign Het
Or8c15 A T 9: 38,121,269 (GRCm39) M305L probably benign Het
Or8g2 A G 9: 39,821,279 (GRCm39) Y60C probably damaging Het
Pard3 G A 8: 128,337,047 (GRCm39) G1221D probably damaging Het
Pax5 G A 4: 44,691,886 (GRCm39) A120V probably damaging Het
Pcsk6 C T 7: 65,683,622 (GRCm39) R746C probably damaging Het
Pif1 G A 9: 65,495,333 (GRCm39) C81Y probably benign Het
Plcb1 A G 2: 135,179,419 (GRCm39) Y609C probably damaging Het
Plcd4 C A 1: 74,591,256 (GRCm39) S217Y probably damaging Het
Plxna1 G A 6: 89,334,318 (GRCm39) H104Y probably benign Het
Polr2k A G 15: 36,175,602 (GRCm39) Y45C probably damaging Het
Prex1 A G 2: 166,428,619 (GRCm39) probably benign Het
Pth2r A G 1: 65,427,598 (GRCm39) M424V probably benign Het
Pygm A G 19: 6,441,396 (GRCm39) R464G probably benign Het
Rad51c A G 11: 87,288,481 (GRCm39) L234P probably damaging Het
Rnf145 A G 11: 44,415,965 (GRCm39) Y60C probably damaging Het
Rnf167 T C 11: 70,540,525 (GRCm39) I135T probably damaging Het
Rnf213 A T 11: 119,305,295 (GRCm39) I509F probably damaging Het
Ro60 G T 1: 143,635,813 (GRCm39) N444K probably benign Het
Ryr2 T C 13: 11,884,042 (GRCm39) S213G probably damaging Het
Selenbp1 T C 3: 94,844,224 (GRCm39) V27A possibly damaging Het
Selenof T G 3: 144,283,453 (GRCm39) L14R probably damaging Het
Sfswap A T 5: 129,581,190 (GRCm39) D121V probably damaging Het
Slc25a34 C A 4: 141,347,780 (GRCm39) M300I possibly damaging Het
Slc34a3 T G 2: 25,119,122 (GRCm39) T583P probably benign Het
Slc66a3 C A 12: 17,047,711 (GRCm39) probably benign Het
Smg1 C A 7: 117,781,691 (GRCm39) A1199S probably benign Het
Spint1 A G 2: 119,076,096 (GRCm39) T231A probably damaging Het
Sptbn1 A C 11: 30,099,576 (GRCm39) N229K probably damaging Het
Sult2b1 A G 7: 45,379,516 (GRCm39) probably benign Het
Tas2r123 A T 6: 132,824,801 (GRCm39) M233L probably damaging Het
Tbcel C A 9: 42,355,796 (GRCm39) C139F probably benign Het
Tmem132c A G 5: 127,640,769 (GRCm39) E980G probably damaging Het
Tmem247 G T 17: 87,229,750 (GRCm39) C197F probably damaging Het
Tmem43 C A 6: 91,459,300 (GRCm39) P257Q probably benign Het
Tmprss13 A G 9: 45,248,430 (GRCm39) probably null Het
Ubr5 T C 15: 37,973,224 (GRCm39) T2626A probably damaging Het
Vmn1r196 T A 13: 22,478,006 (GRCm39) V215D probably damaging Het
Vmn1r22 G T 6: 57,877,317 (GRCm39) T220K probably benign Het
Vmn2r116 G A 17: 23,606,253 (GRCm39) M388I possibly damaging Het
Vmn2r74 A C 7: 85,610,618 (GRCm39) C25G probably damaging Het
Xndc1 T C 7: 101,729,823 (GRCm39) probably benign Het
Zfp282 A G 6: 47,874,815 (GRCm39) D340G probably damaging Het
Zfp282 T A 6: 47,881,987 (GRCm39) I558N possibly damaging Het
Zfp316 T A 5: 143,250,246 (GRCm39) T56S unknown Het
Zfp345 A G 2: 150,316,479 (GRCm39) probably benign 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
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
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'- TGTGACCACAGCACACTGTGAG -3'
(R):5'- CAAGAGAAGCTGCCCTATTGGTGAG -3'

Sequencing Primer
(F):5'- GCACACTGTGAGGACAAAC -3'
(R):5'- TGgtgagtgagtgtgtgtg -3'
Posted On 2013-05-23