Mutagenetix > Incidental Mutation

Incidental Mutation 'R1663:Comp'

186936

Institutional Source

Beutler Lab

Gene Symbol

Comp

Ensembl Gene

ENSMUSG00000031849

Gene Name

cartilage oligomeric matrix protein

Synonyms

TSP5, thrombospondin-5

MMRRC Submission

039699-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R1663 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

70826208-70834716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70826250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 10 (L10P)

Ref Sequence

ENSEMBL: ENSMUSP00000003659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003659]

AlphaFold

Q9R0G6

PDB Structure

Storage function of COMP:the crystal structure of the coiled-coil domain in complex with vitamin D3 [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003659
AA Change: L10P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849
AA Change: L10P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:COMP	28	72	6.2e-22	PFAM
EGF	88	124	8.19e-2	SMART
EGF_CA	125	177	5.08e-7	SMART
EGF_CA	178	220	1.73e-9	SMART
EGF	226	265	7.53e-1	SMART
Pfam:TSP_3	299	334	6.1e-16	PFAM
Pfam:TSP_3	358	393	1.2e-15	PFAM
Pfam:TSP_3	393	416	2.7e-6	PFAM
Pfam:TSP_3	417	454	1.6e-14	PFAM
Pfam:TSP_3	455	490	3.7e-14	PFAM
Pfam:TSP_3	491	526	6.1e-15	PFAM
Pfam:TSP_C	544	741	2.6e-101	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212439

Predicted Effect

probably benign
Transcript: ENSMUST00000213072

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

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 is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation are indistinguishable from controls. Mice homozygous for a knockin allele with two point mutations exhibit short limb dwarfism, osteoarthritis, abnormal chondrocytes, mild myopathy, and abnormal tendon morphology and stiffness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,177,949 (GRCm39)	T11S	probably benign	Het
Adgb	T	C	10: 10,215,419 (GRCm39)	M1529V	possibly damaging	Het
Ankrd36	T	A	11: 5,570,126 (GRCm39)	D531E	possibly damaging	Het
Ankzf1	C	T	1: 75,172,914 (GRCm39)	P337S	probably damaging	Het
Apc	A	G	18: 34,401,378 (GRCm39)	I55V	probably damaging	Het
Aplnr	A	G	2: 84,967,038 (GRCm39)	D21G	possibly damaging	Het
Apol10b	A	T	15: 77,472,914 (GRCm39)	F47I	probably damaging	Het
Arhgef5	G	A	6: 43,253,899 (GRCm39)	A1131T	probably damaging	Het
Arrb2	A	T	11: 70,328,429 (GRCm39)	Q83L	probably damaging	Het
Atf7ip	A	G	6: 136,580,322 (GRCm39)	Q1082R	possibly damaging	Het
Atl2	A	G	17: 80,172,140 (GRCm39)	S28P	probably damaging	Het
Brd7	T	C	8: 89,084,651 (GRCm39)	K89E	possibly damaging	Het
Cc2d1b	A	G	4: 108,480,744 (GRCm39)	T55A	probably damaging	Het
Ccdc18	A	G	5: 108,363,956 (GRCm39)	E1217G	probably damaging	Het
Cdc42ep4	A	T	11: 113,620,277 (GRCm39)	M38K	probably damaging	Het
Cldn14	A	G	16: 93,716,166 (GRCm39)	S227P	probably damaging	Het
Clspn	T	A	4: 126,459,768 (GRCm39)	C332S	probably benign	Het
Col5a1	T	C	2: 27,841,488 (GRCm39)	S370P	unknown	Het
Dcc	A	T	18: 71,959,123 (GRCm39)	N216K	probably damaging	Het
Dcstamp	C	T	15: 39,618,340 (GRCm39)	Q250*	probably null	Het
Drd5	T	C	5: 38,478,198 (GRCm39)	F397S	probably benign	Het
Dst	T	C	1: 34,202,466 (GRCm39)	S265P	probably damaging	Het
Dync2i1	T	C	12: 116,193,230 (GRCm39)	Q574R	probably benign	Het
Enam	A	T	5: 88,651,853 (GRCm39)	S1046C	probably damaging	Het
Eno3	T	C	11: 70,553,100 (GRCm39)		probably null	Het
Fam13a	G	A	6: 58,931,357 (GRCm39)	R408*	probably null	Het
Gipc2	T	A	3: 151,799,801 (GRCm39)	M310L	probably benign	Het
Gm14496	T	C	2: 181,639,230 (GRCm39)	V440A	probably benign	Het
Gzmg	A	T	14: 56,394,265 (GRCm39)	C210S	probably damaging	Het
Helb	G	T	10: 119,941,338 (GRCm39)	A450E	probably damaging	Het
Hepacam2	A	T	6: 3,483,439 (GRCm39)	I190N	possibly damaging	Het
Hk3	A	T	13: 55,154,388 (GRCm39)	S773T	probably benign	Het
Hnrnpc	A	G	14: 52,312,852 (GRCm39)	S221P	probably damaging	Het
Ifna9	T	C	4: 88,510,220 (GRCm39)	T135A	probably benign	Het
Igfn1	C	T	1: 135,896,046 (GRCm39)	G1507R	probably benign	Het
Kank3	A	G	17: 34,037,349 (GRCm39)	T218A	probably benign	Het
Kcp	G	T	6: 29,498,964 (GRCm39)	R337S	possibly damaging	Het
Krt74	A	T	15: 101,665,109 (GRCm39)		noncoding transcript	Het
Lrp1	A	T	10: 127,392,790 (GRCm39)	D2758E	probably damaging	Het
Ly75	T	C	2: 60,144,578 (GRCm39)	E1295G	probably damaging	Het
Mccc1	C	A	3: 36,033,082 (GRCm39)	W354L	probably damaging	Het
Mmp1a	C	T	9: 7,465,657 (GRCm39)	T198M	probably benign	Het
Mtmr2	C	T	9: 13,714,797 (GRCm39)	T519I	probably damaging	Het
Nbea	A	G	3: 55,553,407 (GRCm39)	S2632P	possibly damaging	Het
Nbn	T	A	4: 15,970,903 (GRCm39)	D295E	probably benign	Het
Ndufb8	T	C	19: 44,538,820 (GRCm39)	Y167C	probably damaging	Het
Nisch	A	G	14: 30,913,478 (GRCm39)		probably benign	Het
Notch3	C	T	17: 32,375,093 (GRCm39)	G407D	probably damaging	Het
Nucb1	A	G	7: 45,148,288 (GRCm39)	F175S	probably damaging	Het
Or1l8	T	G	2: 36,817,346 (GRCm39)	Y260S	probably damaging	Het
Or6c6c	G	A	10: 129,541,160 (GRCm39)	V138M	probably benign	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or8b44	T	G	9: 38,410,868 (GRCm39)	I301R	unknown	Het
Pip5k1c	T	C	10: 81,148,349 (GRCm39)	V425A	probably damaging	Het
Pnisr	T	A	4: 21,873,857 (GRCm39)		probably benign	Het
Prkag1	A	G	15: 98,713,776 (GRCm39)	V18A	probably damaging	Het
Rad50	T	C	11: 53,559,050 (GRCm39)	N1063S	probably benign	Het
Rnf170	C	T	8: 26,619,171 (GRCm39)	H132Y	probably damaging	Het
Rnf213	A	G	11: 119,328,498 (GRCm39)	D1977G	probably benign	Het
Sema3a	G	A	5: 13,607,092 (GRCm39)		probably null	Het
Setx	T	A	2: 29,016,917 (GRCm39)	C7S	probably damaging	Het
Slc23a2	A	G	2: 131,907,384 (GRCm39)	I417T	probably damaging	Het
Spink6	T	G	18: 44,204,588 (GRCm39)	F18C	unknown	Het
Sptbn1	T	C	11: 30,070,783 (GRCm39)	Q1538R	possibly damaging	Het
Strn3	A	G	12: 51,699,609 (GRCm39)	Y188H	probably damaging	Het
Tecpr1	C	A	5: 144,134,762 (GRCm39)	K1040N	probably benign	Het
Tll1	T	A	8: 64,470,720 (GRCm39)	Y901F	probably benign	Het
Tmem81	C	T	1: 132,435,635 (GRCm39)	A147V	probably benign	Het
Tnpo3	T	C	6: 29,565,758 (GRCm39)	D532G	probably benign	Het
Vmn2r19	T	A	6: 123,313,411 (GRCm39)	I827N	probably benign	Het
Wdr35	A	G	12: 9,070,000 (GRCm39)	K857R	probably benign	Het
Zfp110	A	G	7: 12,582,569 (GRCm39)	T406A	probably benign	Het
Zfp52	T	C	17: 21,782,084 (GRCm39)	L644P	possibly damaging	Het
Zfp605	G	A	5: 110,275,451 (GRCm39)	V190I	probably benign	Het
Zfp964	A	G	8: 70,116,733 (GRCm39)		probably null	Het
Zmynd8	A	G	2: 165,649,805 (GRCm39)	S779P	probably benign	Het
Zswim5	T	A	4: 116,844,092 (GRCm39)	N1043K	probably damaging	Het

Other mutations in Comp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Comp	APN	8	70,831,285 (GRCm39)	missense	probably damaging	1.00
IGL02110:Comp	APN	8	70,826,289 (GRCm39)	missense	probably benign	0.08
IGL02721:Comp	APN	8	70,828,731 (GRCm39)	missense	probably damaging	1.00
IGL02812:Comp	APN	8	70,829,337 (GRCm39)	missense	possibly damaging	0.75
IGL03023:Comp	APN	8	70,831,260 (GRCm39)	unclassified	probably benign
BB007:Comp	UTSW	8	70,826,503 (GRCm39)	missense	probably damaging	1.00
BB017:Comp	UTSW	8	70,826,503 (GRCm39)	missense	probably damaging	1.00
IGL03047:Comp	UTSW	8	70,827,559 (GRCm39)	missense	possibly damaging	0.65
R0217:Comp	UTSW	8	70,831,558 (GRCm39)	missense	probably damaging	1.00
R0503:Comp	UTSW	8	70,828,384 (GRCm39)	missense	possibly damaging	0.58
R0659:Comp	UTSW	8	70,831,751 (GRCm39)	missense	possibly damaging	0.84
R1490:Comp	UTSW	8	70,826,563 (GRCm39)	missense	possibly damaging	0.63
R1666:Comp	UTSW	8	70,831,607 (GRCm39)	splice site	probably null
R1668:Comp	UTSW	8	70,831,607 (GRCm39)	splice site	probably null
R1789:Comp	UTSW	8	70,829,796 (GRCm39)	missense	probably benign	0.01
R2096:Comp	UTSW	8	70,828,713 (GRCm39)	missense	probably damaging	1.00
R2157:Comp	UTSW	8	70,832,220 (GRCm39)	nonsense	probably null
R3836:Comp	UTSW	8	70,826,509 (GRCm39)	missense	probably benign	0.26
R4630:Comp	UTSW	8	70,827,032 (GRCm39)	missense	possibly damaging	0.94
R4743:Comp	UTSW	8	70,828,711 (GRCm39)	missense	probably damaging	1.00
R4747:Comp	UTSW	8	70,829,352 (GRCm39)	missense	probably damaging	1.00
R5028:Comp	UTSW	8	70,829,290 (GRCm39)	missense	probably damaging	0.99
R5070:Comp	UTSW	8	70,829,145 (GRCm39)	missense	probably benign	0.25
R5083:Comp	UTSW	8	70,833,950 (GRCm39)	missense	probably damaging	1.00
R5917:Comp	UTSW	8	70,829,011 (GRCm39)	splice site	probably null
R6705:Comp	UTSW	8	70,829,387 (GRCm39)	missense	probably damaging	0.98
R6965:Comp	UTSW	8	70,829,164 (GRCm39)	missense	probably damaging	1.00
R7309:Comp	UTSW	8	70,826,328 (GRCm39)	splice site	probably null
R7402:Comp	UTSW	8	70,829,854 (GRCm39)	missense	probably benign	0.01
R7501:Comp	UTSW	8	70,832,059 (GRCm39)	missense	possibly damaging	0.82
R7541:Comp	UTSW	8	70,834,000 (GRCm39)	missense	probably damaging	1.00
R7568:Comp	UTSW	8	70,826,509 (GRCm39)	missense	probably benign	0.26
R7930:Comp	UTSW	8	70,826,503 (GRCm39)	missense	probably damaging	1.00
R8103:Comp	UTSW	8	70,833,936 (GRCm39)	missense	probably damaging	1.00
R8259:Comp	UTSW	8	70,831,704 (GRCm39)	missense	probably damaging	1.00
R8271:Comp	UTSW	8	70,829,110 (GRCm39)	missense	probably damaging	1.00
R8677:Comp	UTSW	8	70,832,910 (GRCm39)	missense	probably damaging	1.00
R9273:Comp	UTSW	8	70,831,285 (GRCm39)	missense	probably damaging	1.00
R9355:Comp	UTSW	8	70,828,699 (GRCm39)	missense	probably benign	0.30
R9557:Comp	UTSW	8	70,829,854 (GRCm39)	missense	probably benign	0.01
Z1177:Comp	UTSW	8	70,829,871 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGCCCCAATTTACTCTTCAAGGCTC -3'
(R):5'- GTCTCCTGAAGTTCTCGCAGCATC -3'

Sequencing Primer
(F):5'- TCCTCAGACCCCACCATATACTG -3'
(R):5'- AGTGATGGGCGACCCAAC -3'

Posted On

2014-05-09