Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01370:Thbs2'

76101

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: 0.235) question?

Stock #

IGL01370

Quality Score

Status

Chromosome

Chromosomal Location

14885762-14914497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14910327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 91 (K91E)

Ref Sequence

ENSEMBL: ENSMUSP00000128308 (fasta)

Gene Model

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

AlphaFold

Q03350

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170872
AA Change: K91E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: K91E

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,423,503 (GRCm39)		probably benign	Het
Add1	C	T	5: 34,787,859 (GRCm39)	T210I	probably damaging	Het
Ajm1	T	C	2: 25,468,969 (GRCm39)	E314G	possibly damaging	Het
Alpk2	A	T	18: 65,483,662 (GRCm39)	D115E	possibly damaging	Het
Ankrd36	C	T	11: 5,534,019 (GRCm39)	T290I	probably benign	Het
Bltp1	T	A	3: 37,001,904 (GRCm39)	I1283N	probably benign	Het
Castor2	T	C	5: 134,167,111 (GRCm39)	V323A	probably benign	Het
Ccnt2	T	C	1: 127,731,250 (GRCm39)	F709S	possibly damaging	Het
Erc1	T	C	6: 119,801,426 (GRCm39)	E197G	probably damaging	Het
Ftsj3	G	T	11: 106,143,145 (GRCm39)	R390S	possibly damaging	Het
Gabrb3	G	A	7: 57,466,226 (GRCm39)	A347T	probably benign	Het
Gde1	A	G	7: 118,288,383 (GRCm39)		probably benign	Het
Jhy	A	T	9: 40,828,438 (GRCm39)	N489K	probably benign	Het
Kiss1r	A	G	10: 79,754,658 (GRCm39)	T51A	probably benign	Het
Lama5	T	C	2: 179,839,193 (GRCm39)	S772G	possibly damaging	Het
Lamb2	G	T	9: 108,364,932 (GRCm39)		probably null	Het
Loxl3	A	G	6: 83,026,468 (GRCm39)	T475A	probably damaging	Het
Lpl	A	T	8: 69,340,220 (GRCm39)	S72C	possibly damaging	Het
Lrrc74a	A	T	12: 86,801,204 (GRCm39)	I352F	probably damaging	Het
Mcoln2	T	C	3: 145,887,585 (GRCm39)	I334T	possibly damaging	Het
Mettl8	T	G	2: 70,812,383 (GRCm39)	D49A	probably damaging	Het
Ms4a3	T	A	19: 11,610,245 (GRCm39)	T106S	probably benign	Het
Obscn	T	A	11: 58,886,389 (GRCm39)		probably null	Het
Or14j2	T	C	17: 37,885,412 (GRCm39)	I301V	probably null	Het
Or1o11	C	A	17: 37,756,605 (GRCm39)	H64Q	probably benign	Het
Or1p1c	G	A	11: 74,160,325 (GRCm39)	V37I	probably benign	Het
Or4n4	G	T	14: 50,519,689 (GRCm39)	T7K	probably damaging	Het
Or5b107	A	T	19: 13,142,663 (GRCm39)	Y95F	possibly damaging	Het
Pcnx2	T	C	8: 126,528,222 (GRCm39)	K1333E	probably damaging	Het
Pias3	T	C	3: 96,610,891 (GRCm39)	F364L	probably damaging	Het
Piezo2	T	A	18: 63,155,531 (GRCm39)	I2438F	probably damaging	Het
Plcb3	A	C	19: 6,940,192 (GRCm39)	V465G	probably damaging	Het
Plekho2	G	T	9: 65,465,912 (GRCm39)	H159N	probably damaging	Het
Polr2e	A	G	10: 79,872,681 (GRCm39)		probably benign	Het
Rab6b	G	T	9: 103,041,094 (GRCm39)	V163L	probably benign	Het
Rabep1	A	G	11: 70,816,607 (GRCm39)	M597V	probably benign	Het
Rbm15	A	G	3: 107,238,326 (GRCm39)	S691P	probably damaging	Het
Sec24b	G	A	3: 129,801,253 (GRCm39)		probably benign	Het
Slc6a18	A	G	13: 73,815,150 (GRCm39)	I386T	probably damaging	Het
Stxbp3	A	C	3: 108,704,741 (GRCm39)	Y497*	probably null	Het
Styk1	T	C	6: 131,278,615 (GRCm39)	K353R	probably damaging	Het
Tbc1d10b	A	T	7: 126,798,253 (GRCm39)	H629Q	probably damaging	Het
Tbc1d5	T	A	17: 51,273,755 (GRCm39)	I119F	probably benign	Het
Tcp11l1	G	T	2: 104,536,831 (GRCm39)	D11E	probably benign	Het
Tfap2d	A	G	1: 19,175,009 (GRCm39)	Y154C	probably damaging	Het
Tgm5	T	C	2: 120,884,018 (GRCm39)	N325S	probably benign	Het
Vmn2r26	T	A	6: 124,038,715 (GRCm39)	F763L	probably benign	Het
Washc4	A	G	10: 83,394,694 (GRCm39)	E308G	probably damaging	Het
Xpot	C	A	10: 121,440,399 (GRCm39)	A611S	probably benign	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
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
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

2013-10-07