Incidental Mutation 'IGL03232:Thbs2'
ID 413946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thbs2
Ensembl Gene ENSMUSG00000023885
Gene Name thrombospondin 2
Synonyms Thrombospondin-2, Thbs-2, TSP2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.218) question?
Stock # IGL03232
Quality Score
Status
Chromosome 17
Chromosomal Location 14885762-14914497 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 14911675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000128308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170872]
AlphaFold Q03350
Predicted Effect probably null
Transcript: ENSMUST00000170872
AA Change: M1K
SMART Domains Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: M1K

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
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c19 A G 13: 4,288,462 (GRCm39) T147A probably damaging Het
Bdp1 A G 13: 100,187,989 (GRCm39) L1532S probably damaging Het
Btbd3 G A 2: 138,126,063 (GRCm39) A416T probably damaging Het
Cacna1e C T 1: 154,369,104 (GRCm39) R311H probably damaging Het
Cers2 T G 3: 95,227,468 (GRCm39) V32G probably damaging Het
Cimip2a A T 2: 25,111,751 (GRCm39) R277* probably null Het
Cog4 A G 8: 111,607,314 (GRCm39) probably null Het
Crybg3 C A 16: 59,350,731 (GRCm39) G870C probably damaging Het
Dmxl1 C T 18: 50,011,247 (GRCm39) H1135Y probably benign Het
Esr1 A C 10: 4,919,270 (GRCm39) K453N probably damaging Het
Gprc5d T C 6: 135,093,662 (GRCm39) I82V probably benign Het
H3c3 T G 13: 23,929,164 (GRCm39) E106A probably damaging Het
Hmcn1 A G 1: 150,646,103 (GRCm39) probably benign Het
Loxhd1 A G 18: 77,496,446 (GRCm39) T17A probably damaging Het
Lrp1 C T 10: 127,375,245 (GRCm39) A4452T probably damaging Het
Morc1 A G 16: 48,451,165 (GRCm39) E948G probably benign Het
Mug1 A G 6: 121,855,494 (GRCm39) K943E probably benign Het
Or5b109 T A 19: 13,212,341 (GRCm39) C242* probably null Het
Or5b12b C A 19: 12,861,636 (GRCm39) Y130* probably null Het
Or5p73 A G 7: 108,064,812 (GRCm39) T94A probably benign Het
Rab21 T C 10: 115,130,767 (GRCm39) probably benign Het
Selenoi T C 5: 30,461,259 (GRCm39) F140S probably damaging Het
Serpini1 T C 3: 75,545,317 (GRCm39) probably benign Het
Sgip1 T C 4: 102,772,251 (GRCm39) probably benign Het
Smc1b T C 15: 85,013,921 (GRCm39) I83M possibly damaging Het
Smg7 T C 1: 152,715,907 (GRCm39) Y1061C probably damaging Het
Ubqlnl A G 7: 103,797,836 (GRCm39) S554P 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
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
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
Posted On 2016-08-02