Mutagenetix > Incidental Mutation

Incidental Mutation 'R4495:Thbs2'

330948

Institutional Source

Beutler Lab

Gene Symbol

Thbs2

Ensembl Gene

ENSMUSG00000023885

Gene Name

thrombospondin 2

Synonyms

Thrombospondin-2, Thbs-2, TSP2

MMRRC Submission

041583-MU

Accession Numbers

Essential gene?

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

Stock #

R4495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14885762-14914497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14891675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 954 (I954T)

Ref Sequence

ENSEMBL: ENSMUSP00000128308 (fasta)

Gene Model

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

AlphaFold

Q03350

Predicted Effect

probably damaging
Transcript: ENSMUST00000170872
AA Change: I954T

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

SMART Domains

Protein: ENSMUSP00000128308
Gene: ENSMUSG00000023885
AA Change: I954T

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Cdh4	T	C	2: 179,422,182 (GRCm39)	V102A	probably damaging	Het
Cmya5	T	C	13: 93,230,573 (GRCm39)	E1505G	probably benign	Het
Cyp2b9	T	A	7: 25,900,180 (GRCm39)	D329E	probably benign	Het
Ddx47	T	C	6: 134,998,429 (GRCm39)	F375S	possibly damaging	Het
Dnah7b	T	G	1: 46,124,792 (GRCm39)	S154A	probably benign	Het
Fry	G	T	5: 150,233,928 (GRCm39)	E133D	probably damaging	Het
Hydin	T	C	8: 111,322,034 (GRCm39)	L4562P	probably damaging	Het
Ifnlr1	A	T	4: 135,433,079 (GRCm39)	E505V	probably damaging	Het
Igfn1	T	C	1: 135,897,416 (GRCm39)	E1050G	possibly damaging	Het
Kidins220	T	A	12: 25,088,301 (GRCm39)		probably null	Het
Klra10	T	G	6: 130,256,311 (GRCm39)	E114D	probably benign	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgpra3	T	C	7: 47,239,813 (GRCm39)	I38V	probably benign	Het
Nfkb2	A	G	19: 46,296,878 (GRCm39)	D316G	probably damaging	Het
Nrxn2	A	T	19: 6,581,429 (GRCm39)	T412S	probably benign	Het
Or4k37	T	A	2: 111,159,365 (GRCm39)	N200K	probably benign	Het
Palm3	C	T	8: 84,753,495 (GRCm39)	R97C	probably damaging	Het
Pdcd11	T	C	19: 47,099,445 (GRCm39)	V848A	probably benign	Het
Prdx1	T	C	4: 116,556,416 (GRCm39)	V188A	probably benign	Het
Prep	T	C	10: 44,996,915 (GRCm39)	F398L	probably benign	Het
Prlhr	A	T	19: 60,455,519 (GRCm39)	M349K	probably benign	Het
Rwdd2b	T	C	16: 87,231,450 (GRCm39)	T235A	probably benign	Het
Scn1a	T	C	2: 66,111,146 (GRCm39)		probably null	Het
Sidt1	C	T	16: 44,102,841 (GRCm39)	V295M	probably damaging	Het
Sla	T	C	15: 66,673,361 (GRCm39)	T10A	probably benign	Het
Slc22a20	A	G	19: 6,034,952 (GRCm39)	S170P	probably benign	Het
Syt6	C	A	3: 103,494,876 (GRCm39)	C280*	probably null	Het
Tmprss11b	T	A	5: 86,812,922 (GRCm39)	K125*	probably null	Het
Ugt1a6a	T	A	1: 88,066,905 (GRCm39)	L237H	probably damaging	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Wdr53	A	G	16: 32,070,969 (GRCm39)	T105A	probably benign	Het
Xkrx	T	C	X: 133,051,745 (GRCm39)	N302S	possibly damaging	Het
Zfp704	T	A	3: 9,536,137 (GRCm39)	S128C	probably benign	Het
Zfp759	A	G	13: 67,286,989 (GRCm39)		probably null	Het
Zfyve16	A	T	13: 92,625,075 (GRCm39)	D1494E	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
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'- TGAACTACCCACAGGATCTCAG -3'
(R):5'- TTTGGAAGCAGTTGACCCTC -3'

Sequencing Primer
(F):5'- GGCTCACCTACAGCGATG -3'
(R):5'- GGTGCATAGCCTCAAATCTTACAG -3'

Posted On

2015-07-21