Incidental Mutation 'R6166:Thbs2'
| ID |
490172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thbs2
|
| Ensembl Gene |
ENSMUSG00000023885 |
| Gene Name |
thrombospondin 2 |
| Synonyms |
Thrombospondin-2, Thbs-2, TSP2 |
| MMRRC Submission |
044312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.218)
|
| Stock # |
R6166 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
14885762-14914497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14900650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 519
(R519H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170872]
|
| AlphaFold |
Q03350 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170872
AA Change: R519H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: R519H
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (57/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
A |
T |
12: 84,039,378 (GRCm39) |
N296Y |
probably damaging |
Het |
| Ago2 |
T |
A |
15: 72,996,089 (GRCm39) |
I347L |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,329,288 (GRCm39) |
|
probably null |
Het |
| Ap1ar |
A |
G |
3: 127,606,177 (GRCm39) |
|
probably null |
Het |
| Arap3 |
T |
C |
18: 38,107,423 (GRCm39) |
T1365A |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,525,699 (GRCm39) |
H1966Q |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
| Atg13 |
G |
T |
2: 91,506,736 (GRCm39) |
Q479K |
probably damaging |
Het |
| Bmp8a |
T |
C |
4: 123,218,471 (GRCm39) |
T183A |
probably benign |
Het |
| Camta2 |
G |
C |
11: 70,565,087 (GRCm39) |
|
probably null |
Het |
| Catspere2 |
A |
G |
1: 177,931,403 (GRCm39) |
T441A |
unknown |
Het |
| Ccdc40 |
T |
C |
11: 119,122,827 (GRCm39) |
S210P |
probably benign |
Het |
| Cnn2 |
A |
G |
10: 79,824,561 (GRCm39) |
E17G |
possibly damaging |
Het |
| Cnot6l |
T |
C |
5: 96,227,799 (GRCm39) |
D478G |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,044 (GRCm39) |
H478R |
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,228,766 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dll4 |
A |
G |
2: 119,165,107 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,780,316 (GRCm39) |
V1039A |
probably benign |
Het |
| Fam117a |
T |
C |
11: 95,271,607 (GRCm39) |
M393T |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,532,212 (GRCm39) |
N508K |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,522 (GRCm39) |
S758P |
probably damaging |
Het |
| Fgf20 |
T |
C |
8: 40,732,881 (GRCm39) |
K186E |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,726,736 (GRCm39) |
K628E |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,811,071 (GRCm39) |
K2463N |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,090,646 (GRCm39) |
Y299* |
probably null |
Het |
| Gm7363 |
A |
T |
7: 3,986,784 (GRCm39) |
|
noncoding transcript |
Het |
| Gpx5 |
A |
T |
13: 21,473,435 (GRCm39) |
F104I |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,259,274 (GRCm39) |
G1038D |
probably damaging |
Het |
| Lgals9 |
C |
T |
11: 78,862,184 (GRCm39) |
A134T |
probably benign |
Het |
| Lrba |
G |
A |
3: 86,261,614 (GRCm39) |
|
probably null |
Het |
| Lypd10 |
A |
T |
7: 24,413,644 (GRCm39) |
Q220L |
probably benign |
Het |
| Naprt |
T |
C |
15: 75,763,326 (GRCm39) |
Q439R |
possibly damaging |
Het |
| Ndufs6 |
G |
A |
13: 73,466,060 (GRCm39) |
|
probably benign |
Het |
| Nodal |
C |
A |
10: 61,260,337 (GRCm39) |
S329R |
probably damaging |
Het |
| Olfm3 |
T |
A |
3: 114,916,074 (GRCm39) |
N315K |
probably damaging |
Het |
| Or4k2 |
C |
T |
14: 50,424,225 (GRCm39) |
V150I |
probably benign |
Het |
| Or6c3b |
A |
T |
10: 129,527,148 (GRCm39) |
I254K |
probably damaging |
Het |
| Or6k2 |
A |
G |
1: 173,986,659 (GRCm39) |
T107A |
probably benign |
Het |
| Plg |
T |
A |
17: 12,617,001 (GRCm39) |
V373E |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,861,306 (GRCm39) |
S661R |
probably damaging |
Het |
| Psg21 |
A |
T |
7: 18,390,664 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
T |
C |
14: 70,035,627 (GRCm39) |
D148G |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,322,543 (GRCm39) |
N116K |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,617,177 (GRCm39) |
|
probably benign |
Homo |
| Slc38a9 |
T |
G |
13: 112,831,801 (GRCm39) |
Y184D |
possibly damaging |
Het |
| Sowahc |
A |
G |
10: 59,058,182 (GRCm39) |
D106G |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,406,696 (GRCm39) |
Y563C |
probably damaging |
Het |
| Src |
A |
G |
2: 157,310,442 (GRCm39) |
Y359C |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,026,673 (GRCm39) |
D47G |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,585,923 (GRCm39) |
K541E |
possibly damaging |
Het |
| Tgm7 |
A |
G |
2: 120,929,539 (GRCm39) |
V245A |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,681 (GRCm39) |
S157P |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,818,157 (GRCm39) |
S507N |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,718,791 (GRCm39) |
H152Q |
possibly damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,427,947 (GRCm39) |
L773P |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,215,189 (GRCm39) |
L115P |
probably benign |
Het |
| Wdr59 |
C |
T |
8: 112,199,293 (GRCm39) |
R631H |
probably damaging |
Het |
|
| Other mutations in Thbs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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'- AGTATGCATGCCCTGTCACC -3'
(R):5'- GTAAATCACAGTAGACCAGTCCTC -3'
Sequencing Primer
(F):5'- TGCCCTGTCACCCATGGAAC -3'
(R):5'- GTGTCTTCAACTACACTGGAATAGCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation