Mutagenetix > Incidental Mutation

Incidental Mutation 'R9075:Thbs2'

689758

Institutional Source

Beutler Lab

Gene Symbol

Thbs2

Ensembl Gene

ENSMUSG00000023885

Gene Name

thrombospondin 2

Synonyms

Thrombospondin-2, Thbs-2, TSP2

MMRRC Submission

068896-MU

Accession Numbers

Essential gene?

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

Stock #

R9075 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14885762-14914497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14900587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 540 (H540L)

Ref Sequence

ENSEMBL: ENSMUSP00000128308 (fasta)

Gene Model

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

AlphaFold

Q03350

Predicted Effect

probably benign
Transcript: ENSMUST00000170872
AA Change: H540L

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

SMART Domains

Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: H540L

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (50/50)

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
3110009E18Rik	T	G	1: 120,097,014 (GRCm39)	S137A		Het
Actl6a	G	T	3: 32,769,641 (GRCm39)	C152F	possibly damaging	Het
Adam26b	A	T	8: 43,973,405 (GRCm39)	D532E	probably benign	Het
Adamts6	A	G	13: 104,598,793 (GRCm39)	N878S	probably benign	Het
Ap1b1	T	C	11: 4,975,597 (GRCm39)	S387P	possibly damaging	Het
Cdh23	A	G	10: 60,153,541 (GRCm39)	S2350P	probably damaging	Het
Cdh4	A	G	2: 179,501,940 (GRCm39)	D300G	probably damaging	Het
Cngb1	T	C	8: 95,979,993 (GRCm39)	Y969C	probably damaging	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Fam168a	T	A	7: 100,484,582 (GRCm39)	V224D	probably damaging	Het
Fam210a	C	T	18: 68,405,693 (GRCm39)	V177M	probably damaging	Het
Flnc	A	T	6: 29,447,646 (GRCm39)	I1150F	probably damaging	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Gm11555	C	T	11: 99,540,694 (GRCm39)	C95Y		Het
Gns	A	G	10: 121,226,542 (GRCm39)	N397S	probably benign	Het
Grin2b	CA	C	6: 135,709,509 (GRCm39)		probably null	Het
Ifi204	T	A	1: 173,589,282 (GRCm39)	N50Y	possibly damaging	Het
Iqub	T	A	6: 24,446,124 (GRCm39)	I767F	probably damaging	Het
Lama2	A	T	10: 26,857,588 (GRCm39)	L3087Q	probably damaging	Het
Mars2	A	G	1: 55,278,154 (GRCm39)	T586A	probably damaging	Het
Mrps28	G	T	3: 8,867,312 (GRCm39)	S185R	probably benign	Het
Nphp4	T	C	4: 152,591,905 (GRCm39)	Y363H	probably damaging	Het
Nploc4	T	C	11: 120,304,526 (GRCm39)	T232A	possibly damaging	Het
Pate3	A	G	9: 35,557,893 (GRCm39)		probably null	Het
Pcdh18	G	A	3: 49,699,339 (GRCm39)	A1041V	probably benign	Het
Plpp5	T	A	8: 26,210,379 (GRCm39)	Y50N	probably benign	Het
Ppp4r4	G	T	12: 103,570,290 (GRCm39)	G755*	probably null	Het
Psmd14	T	A	2: 61,607,021 (GRCm39)	V156D	probably damaging	Het
Ptch1	G	A	13: 63,681,335 (GRCm39)	R651C	possibly damaging	Het
Rai14	T	C	15: 10,589,403 (GRCm39)	E265G	probably damaging	Het
Rbmx	G	A	X: 56,432,717 (GRCm39)	P301L	probably benign	Het
Rimbp2	T	A	5: 128,851,312 (GRCm39)	D878V	probably damaging	Het
Sarm1	T	C	11: 78,374,023 (GRCm39)	K668R	probably benign	Het
Slc10a2	C	A	8: 5,155,267 (GRCm39)		probably benign	Het
Slc15a3	T	C	19: 10,826,094 (GRCm39)	S262P	probably damaging	Het
Slf2	T	C	19: 44,930,860 (GRCm39)	Y646H	probably damaging	Het
Smpd4	C	T	16: 17,457,849 (GRCm39)	P406S	unknown	Het
Sv2b	A	G	7: 74,789,845 (GRCm39)	V396A	possibly damaging	Het
Swt1	A	G	1: 151,246,245 (GRCm39)		probably benign	Het
Sympk	A	G	7: 18,776,563 (GRCm39)	E485G	probably benign	Het
Tbc1d9	T	C	8: 83,982,501 (GRCm39)	V762A	probably benign	Het
Tie1	C	A	4: 118,341,356 (GRCm39)	G275V	possibly damaging	Het
Tmprss15	T	C	16: 78,754,259 (GRCm39)	Y998C	probably damaging	Het
Trappc10	A	T	10: 78,040,130 (GRCm39)	V607E	possibly damaging	Het
Trim69	A	T	2: 122,009,264 (GRCm39)	R441S	probably benign	Het
Trio	G	T	15: 27,774,022 (GRCm39)	S1814*	probably null	Het
Vmn1r192	C	T	13: 22,371,333 (GRCm39)	V296I	probably benign	Het
Vmn1r223	A	G	13: 23,433,600 (GRCm39)	S65G	possibly damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r41	A	G	7: 8,141,250 (GRCm39)	V738A	probably benign	Het
Zfp408	A	G	2: 91,476,065 (GRCm39)	V363A	possibly damaging	Het
Zfp583	A	T	7: 6,319,870 (GRCm39)	C381S	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
R9001:Thbs2	UTSW	17	14,889,007 (GRCm39)	missense	probably damaging	1.00
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'- ACACGGGTTGGATAAGCACC -3'
(R):5'- TCTGATCTTGCTAGTGCCAGTC -3'

Sequencing Primer
(F):5'- GTTGGATAAGCACCCATCTGCATG -3'
(R):5'- GCTAGTGCCAGTCATATCTGAATC -3'

Posted On

2021-11-19