Mutagenetix > Incidental Mutation

Incidental Mutation 'R9001:Thbs2'

684996

Institutional Source

Beutler Lab

Gene Symbol

Thbs2

Ensembl Gene

ENSMUSG00000023885

Gene Name

thrombospondin 2

Synonyms

Thrombospondin-2, Thbs-2, TSP2

MMRRC Submission

068832-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R9001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14885762-14914497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14889007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1164 (D1164G)

Ref Sequence

ENSEMBL: ENSMUSP00000128308 (fasta)

Gene Model

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

AlphaFold

Q03350

Predicted Effect

probably damaging
Transcript: ENSMUST00000170872
AA Change: D1164G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: D1164G

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,637,176 (GRCm39)	R26G	probably damaging	Het
Aldh1a2	A	G	9: 71,192,462 (GRCm39)	N439S	probably damaging	Het
Arfgef3	C	T	10: 18,522,476 (GRCm39)	E517K	probably benign	Het
Arhgap29	A	T	3: 121,775,523 (GRCm39)	I89L	probably benign	Het
Btbd3	G	A	2: 138,122,296 (GRCm39)	V149I	possibly damaging	Het
Chst5	T	A	8: 112,616,534 (GRCm39)	H362L	probably benign	Het
Cmtm2a	A	G	8: 105,019,376 (GRCm39)	V71A	probably benign	Het
Col6a4	T	A	9: 105,944,370 (GRCm39)	I1035F	probably benign	Het
Csmd2	T	C	4: 128,308,079 (GRCm39)	V1279A		Het
Csmd3	A	T	15: 47,596,901 (GRCm39)	V1068E		Het
Ddx50	T	C	10: 62,475,728 (GRCm39)	Y331C	probably benign	Het
Dhx30	A	G	9: 109,916,623 (GRCm39)	Y631H	probably damaging	Het
Dnah10	G	A	5: 124,852,515 (GRCm39)	G1915S	probably damaging	Het
Dop1a	A	G	9: 86,436,374 (GRCm39)	*2463W	probably null	Het
Dst	G	T	1: 34,213,292 (GRCm39)	V1395F	possibly damaging	Het
Dzip1l	T	C	9: 99,523,907 (GRCm39)		probably null	Het
Eef1akmt3	T	C	10: 126,877,232 (GRCm39)	E11G	probably benign	Het
Elfn2	A	G	15: 78,557,438 (GRCm39)	F370L	probably benign	Het
Enam	T	A	5: 88,637,388 (GRCm39)	F104Y	probably benign	Het
Esd	A	G	14: 74,983,123 (GRCm39)	E258G	probably benign	Het
Fam181b	G	A	7: 92,730,356 (GRCm39)	A377T	unknown	Het
Gabrr3	A	G	16: 59,282,008 (GRCm39)	I454M	probably benign	Het
Ggt5	T	A	10: 75,445,992 (GRCm39)	V462D	probably benign	Het
Gm3250	T	C	10: 77,618,178 (GRCm39)	S67G	unknown	Het
Grn	A	T	11: 102,327,497 (GRCm39)	Y286F		Het
Gulp1	A	G	1: 44,827,709 (GRCm39)	I284V	probably benign	Het
Ilf2	A	G	3: 90,390,108 (GRCm39)	N140S	probably benign	Het
Ints4	C	A	7: 97,190,276 (GRCm39)	P925Q	possibly damaging	Het
Khdc1b	A	G	1: 21,454,560 (GRCm39)	N88D	possibly damaging	Het
Kif15	T	G	9: 122,826,855 (GRCm39)	C798G	probably benign	Het
Ktn1	T	A	14: 47,910,409 (GRCm39)	V285E	probably damaging	Het
Lrif1	A	G	3: 106,641,860 (GRCm39)	S59G	probably benign	Het
Mpdz	A	G	4: 81,299,999 (GRCm39)	M333T	probably benign	Het
Mrm3	A	G	11: 76,141,234 (GRCm39)	D414G	probably benign	Het
Msantd5f3	A	T	4: 73,575,280 (GRCm39)	R320*	probably null	Het
Mtpap	A	G	18: 4,380,831 (GRCm39)	N170D	probably benign	Het
Nelfb	C	A	2: 25,096,287 (GRCm39)	R274L	probably damaging	Het
Or56a3b	T	G	7: 104,771,447 (GRCm39)	V261G	probably damaging	Het
Pkm	A	G	9: 59,572,626 (GRCm39)	N44S	probably benign	Het
Rel	T	C	11: 23,698,855 (GRCm39)	D144G	probably damaging	Het
Scgb2b21	A	T	7: 33,218,956 (GRCm39)		probably benign	Het
Serpinb1b	T	A	13: 33,277,743 (GRCm39)	D325E	probably benign	Het
Slco4c1	A	G	1: 96,748,956 (GRCm39)	C654R	probably damaging	Het
Srgap2	T	C	1: 131,291,798 (GRCm39)	K143R	probably damaging	Het
Szt2	G	A	4: 118,235,529 (GRCm39)	H2034Y	unknown	Het
Tnfrsf10b	T	C	14: 70,015,250 (GRCm39)	S243P	possibly damaging	Het
Tnxb	T	A	17: 34,922,410 (GRCm39)	S2408T	probably benign	Het
Topors	A	T	4: 40,261,696 (GRCm39)	D529E	possibly damaging	Het
Trmt5	T	C	12: 73,331,643 (GRCm39)	M138V	probably benign	Het
Vmn2r81	A	G	10: 79,104,104 (GRCm39)	I242M	possibly damaging	Het
Zfp523	A	G	17: 28,408,915 (GRCm39)	Q21R	possibly damaging	Het
Zfp646	T	A	7: 127,478,856 (GRCm39)	N344K	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
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
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'- CCCTAAACCACATCTTTGCTGG -3'
(R):5'- CTAGATTCCTCTTAGCCAACAGCTG -3'

Sequencing Primer
(F):5'- CTAAACCACATCTTTGCTGGGAAGG -3'
(R):5'- AGACCGCTGGTGAATGTGC -3'

Posted On

2021-10-11