Mutagenetix > Incidental Mutation

Incidental Mutation 'R1582:Thbs2'

171499

Institutional Source

Beutler Lab

Gene Symbol

Thbs2

Ensembl Gene

ENSMUSG00000023885

Gene Name

thrombospondin 2

Synonyms

Thrombospondin-2, Thbs-2, TSP2

MMRRC Submission

039619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R1582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14885762-14914497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 14891550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 996 (P996T)

Ref Sequence

ENSEMBL: ENSMUSP00000128308 (fasta)

Gene Model

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

AlphaFold

Q03350

Predicted Effect

probably damaging
Transcript: ENSMUST00000170872
AA Change: P996T

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

SMART Domains

Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: P996T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232616

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	G	2: 31,690,371 (GRCm39)	A630G	probably damaging	Het
Actr3	A	G	1: 125,333,662 (GRCm39)	Y202H	probably benign	Het
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Atl3	A	G	19: 7,494,264 (GRCm39)	T138A	probably damaging	Het
Bpifa2	T	C	2: 153,855,638 (GRCm39)	S188P	probably damaging	Het
Bsn	T	C	9: 107,982,291 (GRCm39)	T3821A	unknown	Het
Dcun1d2	A	G	8: 13,330,926 (GRCm39)	L68P	probably damaging	Het
Ddhd1	A	T	14: 45,842,566 (GRCm39)	L630I	probably damaging	Het
Ddx25	T	C	9: 35,457,272 (GRCm39)	T348A	probably damaging	Het
Dtnb	C	T	12: 3,823,554 (GRCm39)	T580M	possibly damaging	Het
Dysf	A	G	6: 84,074,749 (GRCm39)	S561G	probably damaging	Het
Ehbp1l1	A	G	19: 5,771,995 (GRCm39)	I101T	possibly damaging	Het
Erich3	T	C	3: 154,469,960 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	T	C	1: 24,068,398 (GRCm39)	T611A	probably damaging	Het
Gpbp1	T	C	13: 111,573,066 (GRCm39)		probably null	Het
H2-Oa	A	T	17: 34,313,695 (GRCm39)	T218S	probably damaging	Het
Kctd19	G	A	8: 106,122,092 (GRCm39)	L152F	probably damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Kif13a	A	G	13: 46,947,398 (GRCm39)	V862A	probably benign	Het
Lct	T	C	1: 128,228,299 (GRCm39)	T1065A	probably damaging	Het
Mark3	G	A	12: 111,621,744 (GRCm39)	A697T	probably benign	Het
Mosmo	A	G	7: 120,329,728 (GRCm39)	I116M	possibly damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc15	A	T	2: 110,567,817 (GRCm39)	M321L	probably benign	Het
Naa25	T	A	5: 121,572,892 (GRCm39)	N670K	probably benign	Het
Or1e1c	T	A	11: 73,266,090 (GRCm39)	C172S	probably damaging	Het
Or5e1	G	T	7: 108,354,317 (GRCm39)	V85L	probably benign	Het
Or6z3	A	G	7: 6,463,813 (GRCm39)	M102V	probably benign	Het
Ppara	T	C	15: 85,682,429 (GRCm39)	I375T	possibly damaging	Het
Prss27	A	G	17: 24,263,877 (GRCm39)	I188V	probably benign	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Relt	C	T	7: 100,500,560 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Smarca2	G	A	19: 26,729,305 (GRCm39)	D19N	probably damaging	Het
Sorbs2	G	A	8: 46,258,814 (GRCm39)	G620D	probably damaging	Het
Spata31d1c	C	A	13: 65,181,038 (GRCm39)	Q46K	probably benign	Het
Spata6	C	G	4: 111,637,992 (GRCm39)	S274*	probably null	Het
Spata6	C	T	4: 111,637,994 (GRCm39)	P275S	probably benign	Het
Tas2r108	T	A	6: 40,470,566 (GRCm39)	V14D	probably benign	Het
Tmem131l	T	C	3: 83,839,090 (GRCm39)	Q620R	probably damaging	Het
Ubap2l	A	G	3: 89,941,978 (GRCm39)	S203P	probably damaging	Het
Unc45b	G	A	11: 82,816,771 (GRCm39)	G404S	probably benign	Het
Uri1	A	G	7: 37,664,811 (GRCm39)	S292P	possibly damaging	Het
Usp21	A	T	1: 171,110,655 (GRCm39)	C444S	probably damaging	Het
Vmn1r117	A	T	7: 20,617,484 (GRCm39)	V188D	possibly damaging	Het
Vmn1r7	T	C	6: 57,002,143 (GRCm39)	D39G	probably damaging	Het
Wdr25	T	C	12: 108,863,980 (GRCm39)	F42L	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGCAAAAGGACTTGTGACCC -3'
(R):5'- TGTGCCCTGAGAACAATGCCATC -3'

Sequencing Primer
(F):5'- GACAGTTTTGTGACAGAAGCTCC -3'
(R):5'- TGCCATCACTGAGACAGACTTC -3'

Posted On

2014-04-13