Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Thbs2'

304138

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thbs2

Ensembl Gene

ENSMUSG00000023885

Gene Name

thrombospondin 2

Synonyms

Thbs-2, Thrombospondin-2, TSP2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

14665500-14694235 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14683361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 353 (I353V)

Ref Sequence

ENSEMBL: ENSMUSP00000128308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170872]

AlphaFold

Q03350

Predicted Effect

probably benign
Transcript: ENSMUST00000170872
AA Change: I353V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: I353V

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		probably benign	Het

Other mutations in Thbs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Thbs2	APN	17	14668835	missense	probably damaging	1.00
IGL00764:Thbs2	APN	17	14690252	missense	probably damaging	0.98
IGL01370:Thbs2	APN	17	14690065	missense	possibly damaging	0.82
IGL01604:Thbs2	APN	17	14678769	missense	probably benign	0.31
IGL01936:Thbs2	APN	17	14687814	missense	probably benign	0.00
IGL02061:Thbs2	APN	17	14679914	missense	probably benign	0.35
IGL02255:Thbs2	APN	17	14689785	missense	probably benign	0.00
IGL02342:Thbs2	APN	17	14676316	missense	probably damaging	1.00
IGL02402:Thbs2	APN	17	14671454	missense	probably benign	0.01
IGL02499:Thbs2	APN	17	14684066	splice site	probably benign
IGL02572:Thbs2	APN	17	14677013	missense	possibly damaging	0.72
IGL02871:Thbs2	APN	17	14685786	missense	probably benign
IGL03058:Thbs2	APN	17	14689969	missense	possibly damaging	0.91
IGL03185:Thbs2	APN	17	14681410	nonsense	probably null
IGL03232:Thbs2	APN	17	14691413	start codon destroyed	probably null
IGL03289:Thbs2	APN	17	14690122	missense	probably benign	0.00
IGL03407:Thbs2	APN	17	14673273	missense	probably benign	0.00
H8562:Thbs2	UTSW	17	14671453	missense	probably benign	0.00
IGL02802:Thbs2	UTSW	17	14684127	missense	probably benign	0.01
PIT4354001:Thbs2	UTSW	17	14689968	missense	probably damaging	0.99
R0088:Thbs2	UTSW	17	14681701	missense	possibly damaging	0.96
R0167:Thbs2	UTSW	17	14667525	splice site	probably benign
R0415:Thbs2	UTSW	17	14679973	missense	probably benign
R0658:Thbs2	UTSW	17	14680325	missense	probably benign	0.00
R0735:Thbs2	UTSW	17	14679815	missense	probably benign	0.00
R1582:Thbs2	UTSW	17	14671288	missense	probably damaging	1.00
R1585:Thbs2	UTSW	17	14689768	missense	probably benign	0.00
R1608:Thbs2	UTSW	17	14685781	missense	probably benign
R1721:Thbs2	UTSW	17	14678810	missense	probably benign	0.00
R1724:Thbs2	UTSW	17	14685900	missense	possibly damaging	0.80
R1791:Thbs2	UTSW	17	14685813	missense	probably benign
R1816:Thbs2	UTSW	17	14670713	missense	probably benign	0.01
R1816:Thbs2	UTSW	17	14670714	missense	probably benign	0.00
R1911:Thbs2	UTSW	17	14689842	missense	probably benign	0.38
R2137:Thbs2	UTSW	17	14673306	missense	probably damaging	1.00
R2152:Thbs2	UTSW	17	14673209	missense	probably damaging	1.00
R2244:Thbs2	UTSW	17	14671413	missense	probably damaging	1.00
R2325:Thbs2	UTSW	17	14690289	splice site	probably null
R2509:Thbs2	UTSW	17	14685843	missense	probably benign	0.11
R3838:Thbs2	UTSW	17	14687851	missense	probably benign
R4173:Thbs2	UTSW	17	14681631	splice site	probably null
R4427:Thbs2	UTSW	17	14680335	missense	probably benign
R4495:Thbs2	UTSW	17	14671413	missense	probably damaging	1.00
R4789:Thbs2	UTSW	17	14671488	missense	probably damaging	1.00
R4928:Thbs2	UTSW	17	14678900	missense	probably damaging	1.00
R5058:Thbs2	UTSW	17	14676329	missense	probably damaging	1.00
R5112:Thbs2	UTSW	17	14670590	splice site	probably null
R5619:Thbs2	UTSW	17	14681244	missense	probably damaging	1.00
R5649:Thbs2	UTSW	17	14689953	missense	probably damaging	1.00
R5664:Thbs2	UTSW	17	14689837	missense	probably damaging	1.00
R5801:Thbs2	UTSW	17	14687863	missense	probably damaging	1.00
R5816:Thbs2	UTSW	17	14684071	critical splice donor site	probably null
R5840:Thbs2	UTSW	17	14681430	splice site	probably null
R6149:Thbs2	UTSW	17	14679680	critical splice donor site	probably null
R6166:Thbs2	UTSW	17	14680388	missense	probably damaging	1.00
R6412:Thbs2	UTSW	17	14677077	missense	probably damaging	1.00
R6473:Thbs2	UTSW	17	14685796	missense	probably benign	0.23
R6640:Thbs2	UTSW	17	14673368	missense	possibly damaging	0.94
R6695:Thbs2	UTSW	17	14674164	missense	possibly damaging	0.54
R6711:Thbs2	UTSW	17	14690265	missense	probably benign	0.00
R6947:Thbs2	UTSW	17	14689767	missense	possibly damaging	0.79
R6962:Thbs2	UTSW	17	14681820	missense	probably benign	0.00
R7183:Thbs2	UTSW	17	14690116	missense	possibly damaging	0.90
R7203:Thbs2	UTSW	17	14671458	missense	probably damaging	1.00
R7386:Thbs2	UTSW	17	14673150	missense	possibly damaging	0.95
R7621:Thbs2	UTSW	17	14674164	missense	probably benign
R7747:Thbs2	UTSW	17	14670039	missense	possibly damaging	0.94
R7759:Thbs2	UTSW	17	14677059	missense	probably damaging	1.00
R7800:Thbs2	UTSW	17	14676296	missense	probably damaging	1.00
R7895:Thbs2	UTSW	17	14676221	missense	probably damaging	1.00
R8094:Thbs2	UTSW	17	14680322	missense	probably benign	0.00
R8332:Thbs2	UTSW	17	14679770	missense	probably damaging	1.00
R8478:Thbs2	UTSW	17	14680404	missense	probably benign	0.00
R8695:Thbs2	UTSW	17	14679701	missense	probably benign
R8707:Thbs2	UTSW	17	14691383	missense	probably damaging	1.00
R9001:Thbs2	UTSW	17	14668745	missense	probably damaging	1.00
R9075:Thbs2	UTSW	17	14680325	missense	probably benign	0.00
R9183:Thbs2	UTSW	17	14676264	missense	probably benign	0.03
R9461:Thbs2	UTSW	17	14690173	missense	probably damaging	1.00
R9462:Thbs2	UTSW	17	14669981	missense	probably damaging	1.00
R9536:Thbs2	UTSW	17	14689885	missense	probably damaging	1.00
R9592:Thbs2	UTSW	17	14678821	missense	probably damaging	1.00
S24628:Thbs2	UTSW	17	14679973	missense	probably benign
X0025:Thbs2	UTSW	17	14681800	missense	probably damaging	0.97

Posted On

2015-04-16