Incidental Mutation 'R6149:Thbs2'
ID 489101
Institutional Source Beutler Lab
Gene Symbol Thbs2
Ensembl Gene ENSMUSG00000023885
Gene Name thrombospondin 2
Synonyms Thrombospondin-2, Thbs-2, TSP2
MMRRC Submission 044296-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # R6149 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 14885762-14914497 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 14899942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170872] [ENSMUST00000170872]
AlphaFold Q03350
Predicted Effect probably null
Transcript: ENSMUST00000170872
SMART Domains Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885

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
Predicted Effect probably null
Transcript: ENSMUST00000170872
SMART Domains Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885

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 0.9478 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 99% (69/70)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik T A 1: 161,777,211 (GRCm39) R115S probably benign Het
Adgre1 A G 17: 57,752,018 (GRCm39) K589E probably benign Het
Adgrv1 A T 13: 81,330,893 (GRCm39) L74Q probably damaging Het
Avil A G 10: 126,842,451 (GRCm39) I77V probably benign Het
Best2 T C 8: 85,739,896 (GRCm39) E57G probably benign Het
Cacna1a T C 8: 85,296,581 (GRCm39) C1200R probably damaging Het
Catsperb T A 12: 101,516,098 (GRCm39) I578K probably damaging Het
Chsy1 A G 7: 65,775,133 (GRCm39) Y154C probably damaging Het
Chuk A G 19: 44,090,270 (GRCm39) V74A probably damaging Het
Ckb T C 12: 111,638,248 (GRCm39) S49G probably damaging Het
Crtac1 A G 19: 42,272,048 (GRCm39) Y632H unknown Het
Ern1 C A 11: 106,296,641 (GRCm39) E770* probably null Het
Fam114a2 A C 11: 57,378,415 (GRCm39) V450G probably benign Het
Fgf15 C T 7: 144,453,506 (GRCm39) Q125* probably null Het
Frem2 A T 3: 53,458,762 (GRCm39) S2036T probably damaging Het
Fxr2 G A 11: 69,540,030 (GRCm39) V296I probably benign Het
Gm15264 C A 3: 94,640,736 (GRCm39) noncoding transcript Het
Ifi213 A T 1: 173,421,581 (GRCm39) S103T probably benign Het
Igkv5-37 T A 6: 69,940,472 (GRCm39) Q57H probably damaging Het
Il1rap A G 16: 26,530,969 (GRCm39) Y435C probably damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Lcor T A 19: 41,573,641 (GRCm39) W799R probably damaging Het
Lnp1 C T 16: 56,737,735 (GRCm39) E118K probably benign Het
Lrif1 A C 3: 106,639,643 (GRCm39) K243Q possibly damaging Het
Lrp1b G T 2: 40,765,165 (GRCm39) probably null Het
Lvrn G A 18: 47,017,499 (GRCm39) V610I probably benign Het
Med1 T C 11: 98,074,679 (GRCm39) K67R possibly damaging Het
Midn T C 10: 79,990,291 (GRCm39) S278P probably damaging Het
Nrap A G 19: 56,377,885 (GRCm39) V35A possibly damaging Het
Nynrin A T 14: 56,091,780 (GRCm39) Q32L possibly damaging Het
Oog1 C T 12: 87,653,043 (GRCm39) T113I possibly damaging Het
Or10ak7 A G 4: 118,791,628 (GRCm39) L139P probably damaging Het
Or10j3 G T 1: 173,031,582 (GRCm39) V220F probably benign Het
Or4x11 C T 2: 89,867,860 (GRCm39) A199V probably benign Het
Or5b21 A T 19: 12,839,723 (GRCm39) I195F probably benign Het
Or6a2 T C 7: 106,600,807 (GRCm39) I87V probably benign Het
Otogl C T 10: 107,717,314 (GRCm39) V386I probably benign Het
Patj A G 4: 98,312,562 (GRCm39) N300S possibly damaging Het
Pcdhb16 T A 18: 37,612,208 (GRCm39) D389E possibly damaging Het
Pdcd6ip T C 9: 113,488,939 (GRCm39) I699V probably benign Het
Pfas A G 11: 68,882,771 (GRCm39) V790A probably benign Het
Plppr4 A T 3: 117,116,043 (GRCm39) C605S probably benign Het
Ppl G A 16: 4,925,460 (GRCm39) Q60* probably null Het
Ppp1r1c A G 2: 79,586,810 (GRCm39) K52R possibly damaging Het
Pramel29 A G 4: 143,933,983 (GRCm39) S375P probably damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Rpe65 G A 3: 159,319,780 (GRCm39) E217K probably benign Het
Rufy4 T C 1: 74,186,892 (GRCm39) I560T probably benign Het
Ryr2 T C 13: 11,683,903 (GRCm39) S3054G probably benign Het
Serpinb6a A T 13: 34,102,343 (GRCm39) L273H probably damaging Het
Sf3b1 A T 1: 55,046,666 (GRCm39) W293R probably damaging Het
Sik1 A T 17: 32,067,771 (GRCm39) S435T possibly damaging Het
Slc2a12 G T 10: 22,540,401 (GRCm39) M85I probably benign Het
Stk36 T C 1: 74,673,388 (GRCm39) S1094P probably benign Het
Tctn1 A T 5: 122,384,649 (GRCm39) Y393N probably benign Het
Tex9 C T 9: 72,369,282 (GRCm39) probably null Het
Tmprss7 A T 16: 45,494,268 (GRCm39) C412* probably null Het
Tpp1 T C 7: 105,396,934 (GRCm39) T399A probably benign Het
Trim25 T A 11: 88,906,362 (GRCm39) V387D probably benign Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Vill T G 9: 118,887,482 (GRCm39) V82G possibly damaging Het
Vmn1r189 T C 13: 22,286,054 (GRCm39) D261G probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r111 G A 17: 22,767,796 (GRCm39) T567I probably benign Het
Vmn2r60 A G 7: 41,786,400 (GRCm39) Y401C probably damaging Het
Zc3h11a G A 1: 133,566,613 (GRCm39) R69* probably null 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
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'- ATGGGCCCTCTGCATGAAAAC -3'
(R):5'- GAGAGAGGCTCACTTCTGTTTG -3'

Sequencing Primer
(F):5'- CCTCTGCATGAAAACATCTGGATTC -3'
(R):5'- TGTTTGTCCTCACAGTGTGC -3'
Posted On 2017-10-10