Mutagenetix > Incidental Mutation

Incidental Mutation 'R6711:Thbs2'

529151

Institutional Source

Beutler Lab

Gene Symbol

Thbs2

Ensembl Gene

ENSMUSG00000023885

Gene Name

thrombospondin 2

Synonyms

Thrombospondin-2, Thbs-2, TSP2

MMRRC Submission

044829-MU

Accession Numbers

Essential gene?

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

Stock #

R6711 (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 14910527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 24 (D24G)

Ref Sequence

ENSEMBL: ENSMUSP00000128308 (fasta)

Gene Model

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

AlphaFold

Q03350

Predicted Effect

probably benign
Transcript: ENSMUST00000170872
AA Change: D24G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: D24G

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

0.0715

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c21	A	G	13: 4,627,374 (GRCm39)	D156G	probably damaging	Het
Ankrd35	C	T	3: 96,590,784 (GRCm39)	Q357*	probably null	Het
Ano2	G	A	6: 125,752,795 (GRCm39)	A191T	probably damaging	Het
Cacna2d1	C	T	5: 16,505,039 (GRCm39)	T331I	probably damaging	Het
Ccdc81	T	G	7: 89,537,006 (GRCm39)	E214A	probably damaging	Het
Cdh4	A	G	2: 179,532,724 (GRCm39)	T729A	probably damaging	Het
Ceacam2	A	G	7: 25,238,295 (GRCm39)	L43P	probably benign	Het
Ces2h	A	T	8: 105,744,715 (GRCm39)	R364S	probably benign	Het
Dcpp3	AGGCCATGCTGGCC	AGGCC	17: 24,136,572 (GRCm39)		probably benign	Het
Entrep1	T	C	19: 23,955,463 (GRCm39)	N385S	probably benign	Het
Epb42	T	A	2: 120,854,589 (GRCm39)		probably benign	Het
Fcgbp	G	A	7: 27,789,098 (GRCm39)	V555M	probably damaging	Het
Ganc	A	T	2: 120,281,320 (GRCm39)	H723L	possibly damaging	Het
Gfra2	A	G	14: 71,203,715 (GRCm39)	D31G	probably damaging	Het
Glrb	A	G	3: 80,752,281 (GRCm39)	I443T	probably benign	Het
Hcfc1	A	T	X: 72,993,671 (GRCm39)	C1165S	probably damaging	Homo
Hoxd10	A	G	2: 74,524,507 (GRCm39)	Y273C	probably damaging	Het
Iba57	T	C	11: 59,049,369 (GRCm39)	T267A	probably damaging	Het
Impg2	C	A	16: 56,085,449 (GRCm39)	P943H	probably damaging	Het
Kidins220	A	G	12: 25,048,750 (GRCm39)	T145A	probably damaging	Het
Lmntd1	T	C	6: 145,489,228 (GRCm39)	Y11C	probably benign	Het
Lyst	A	T	13: 13,809,820 (GRCm39)	T497S	possibly damaging	Het
Man1a	G	A	10: 53,809,588 (GRCm39)	H406Y	probably benign	Het
Mme	A	T	3: 63,249,339 (GRCm39)	K289N	possibly damaging	Het
Mrps21	G	A	3: 95,777,895 (GRCm39)		probably benign	Het
Mtor	A	G	4: 148,536,824 (GRCm39)	N33D	possibly damaging	Het
Ncoa1	C	A	12: 4,372,904 (GRCm39)	A166S	probably benign	Het
Ndrg2	A	T	14: 52,147,782 (GRCm39)	F112I	possibly damaging	Het
Neb	A	C	2: 52,113,076 (GRCm39)	F36C	probably benign	Het
Neb	A	G	2: 52,146,299 (GRCm39)	Y2893H	probably damaging	Het
Or8g22	A	G	9: 38,958,162 (GRCm39)	*229Q	probably null	Het
Pcdh15	A	T	10: 74,478,219 (GRCm39)	E231D	possibly damaging	Het
Pih1d2	T	A	9: 50,529,310 (GRCm39)	M1K	probably null	Het
Pla2g4e	T	C	2: 120,001,751 (GRCm39)	N633D	probably benign	Het
Rph3al	C	A	11: 75,799,810 (GRCm39)	G50*	probably null	Het
Rtcb	A	T	10: 85,774,963 (GRCm39)	N477K	possibly damaging	Het
Scn10a	A	G	9: 119,438,979 (GRCm39)	F1630S	probably damaging	Het
Srfbp1	T	C	18: 52,621,373 (GRCm39)	S145P	probably damaging	Het
St7	A	G	6: 17,848,069 (GRCm39)	E211G	possibly damaging	Het
Tlr6	C	A	5: 65,111,835 (GRCm39)	M357I	probably damaging	Het
Tmem168	T	C	6: 13,603,120 (GRCm39)	Y82C	probably damaging	Het
Tnrc18	A	T	5: 142,773,545 (GRCm39)	L245Q	unknown	Het
Vmn1r8	T	C	6: 57,013,444 (GRCm39)	L165P	probably damaging	Het
Vps13b	A	G	15: 35,887,395 (GRCm39)	Y3268C	probably damaging	Het
Zdhhc7	A	G	8: 120,810,066 (GRCm39)	I218T	probably benign	Het
Zfp213	A	G	17: 23,778,485 (GRCm39)	F209S	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
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
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'- GAGGAAGAAGCCCTCCTTTC -3'
(R):5'- AAAGCCAGCCTCCATGATAGTG -3'

Sequencing Primer
(F):5'- CTCCTTGCAAGCTTGACAATC -3'
(R):5'- CAGCCTCCATGATAGTGGGTAG -3'

Posted On

2018-07-24