Mutagenetix > Incidental Mutation

Incidental Mutation 'R8271:Comp'

637726

Institutional Source

Beutler Lab

Gene Symbol

Comp

Ensembl Gene

ENSMUSG00000031849

Gene Name

cartilage oligomeric matrix protein

Synonyms

TSP5, thrombospondin-5

MMRRC Submission

067652-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R8271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70826208-70834716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70829110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 260 (N260S)

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

probably damaging
Transcript: ENSMUST00000003659
AA Change: N260S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849
AA Change: N260S

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

probably benign
Transcript: ENSMUST00000212488

Predicted Effect

probably benign
Transcript: ENSMUST00000213072

Meta Mutation Damage Score

0.1960

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,736,212 (GRCm39)	I202L	probably benign	Het
Acadsb	A	T	7: 131,045,423 (GRCm39)	T452S	unknown	Het
Ago2	A	T	15: 72,991,315 (GRCm39)	L541Q	probably damaging	Het
Ap2a2	A	T	7: 141,200,812 (GRCm39)	E553V	probably damaging	Het
Astn2	T	C	4: 65,910,663 (GRCm39)	K442E	unknown	Het
Bicd1	A	G	6: 149,414,633 (GRCm39)	T449A	probably benign	Het
Btn1a1	T	A	13: 23,645,919 (GRCm39)	Q150L	probably benign	Het
C1ra	G	A	6: 124,499,610 (GRCm39)	G599R	probably damaging	Het
Camta2	T	A	11: 70,561,886 (GRCm39)	Q1076L	probably benign	Het
Capza2	T	A	6: 17,657,214 (GRCm39)	C157S	probably damaging	Het
Ccnk	A	G	12: 108,162,114 (GRCm39)		probably benign	Het
Chd3	T	A	11: 69,251,483 (GRCm39)	D516V	probably damaging	Het
Cntnap5b	A	G	1: 99,999,832 (GRCm39)	T197A	probably benign	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Ddx60	T	A	8: 62,393,142 (GRCm39)		probably null	Het
Defb22	C	T	2: 152,327,712 (GRCm39)	V158I	unknown	Het
Diaph3	T	C	14: 87,103,949 (GRCm39)	S812G	probably damaging	Het
Dohh	G	T	10: 81,221,844 (GRCm39)	Q79H	probably benign	Het
Dyrk1b	T	G	7: 27,882,080 (GRCm39)	V147G	probably benign	Het
Fastkd2	C	T	1: 63,787,183 (GRCm39)	T539I	probably benign	Het
Itpr3	G	A	17: 27,306,622 (GRCm39)	D229N	probably damaging	Het
Kcnv1	A	T	15: 44,972,754 (GRCm39)	D376E	probably benign	Het
Kif13a	C	A	13: 46,906,057 (GRCm39)	V1577F	probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Mcoln2	A	C	3: 145,898,179 (GRCm39)	N100T	unknown	Het
Mdh1b	C	T	1: 63,759,164 (GRCm39)	V143M	possibly damaging	Het
Mfsd4b4	G	T	10: 39,768,101 (GRCm39)	Q377K	probably benign	Het
Mpv17l	T	C	16: 13,762,584 (GRCm39)	F122S	probably damaging	Het
Mylk	T	C	16: 34,742,949 (GRCm39)	S1154P	probably damaging	Het
Myo5b	A	G	18: 74,760,261 (GRCm39)	Y259C	probably damaging	Het
Nek1	G	A	8: 61,558,646 (GRCm39)	V931M	probably benign	Het
Nkd2	C	A	13: 73,969,437 (GRCm39)	G343V	probably damaging	Het
Obox8	T	A	7: 14,065,928 (GRCm39)	T197S	probably benign	Het
Or10j5	T	A	1: 172,784,744 (GRCm39)	C127*	probably null	Het
Or13g1	G	A	7: 85,955,962 (GRCm39)	R120C	probably benign	Het
Or4b1b	A	G	2: 90,112,616 (GRCm39)	F101S	possibly damaging	Het
Or5m11b	T	G	2: 85,806,085 (GRCm39)	M166R	probably benign	Het
Or5m11b	T	C	2: 85,805,766 (GRCm39)	Y60H	probably damaging	Het
Or5p57	A	G	7: 107,664,980 (GRCm39)	S342P	probably damaging	Het
Or5t7	T	A	2: 86,507,218 (GRCm39)	H153L	probably benign	Het
Palb2	A	T	7: 121,724,097 (GRCm39)	S551T	probably damaging	Het
Pcdha12	T	A	18: 37,154,953 (GRCm39)	D557E	probably damaging	Het
Pcdhb21	T	A	18: 37,648,921 (GRCm39)	D683E	probably benign	Het
Plekhb1	A	G	7: 100,305,936 (GRCm39)		probably benign	Het
Plekhg5	A	G	4: 152,187,464 (GRCm39)	N90D	probably damaging	Het
Pnpla1	A	G	17: 29,100,579 (GRCm39)	D482G	probably benign	Het
Rc3h1	A	T	1: 160,768,329 (GRCm39)		probably benign	Het
Rfpl4	C	T	7: 5,113,539 (GRCm39)	R214H	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Setd5	T	C	6: 113,092,031 (GRCm39)	I284T	possibly damaging	Het
Smurf1	C	T	5: 144,830,897 (GRCm39)	E293K	possibly damaging	Het
Tas2r106	A	T	6: 131,655,023 (GRCm39)	I276N	probably damaging	Het
Tbc1d2	C	A	4: 46,649,791 (GRCm39)	A82S	possibly damaging	Het
Tex19.2	A	G	11: 121,008,010 (GRCm39)	I146T	possibly damaging	Het
Tmem107	T	G	11: 68,962,281 (GRCm39)	N79K	probably damaging	Het
Tpsab1	A	T	17: 25,564,305 (GRCm39)	S50T	probably benign	Het
Ttn	T	A	2: 76,553,594 (GRCm39)	K31008*	probably null	Het
Ubox5	T	C	2: 130,441,629 (GRCm39)	T353A	probably benign	Het
Usp24	T	A	4: 106,285,711 (GRCm39)	H2445Q	probably damaging	Het
Uvrag	T	C	7: 98,537,698 (GRCm39)	D499G	probably benign	Het
Xndc1	A	T	7: 101,728,343 (GRCm39)	N247I	possibly damaging	Het
Yipf2	A	T	9: 21,501,291 (GRCm39)	W226R	probably damaging	Het
Zfp335	T	A	2: 164,739,973 (GRCm39)	Q793L	probably damaging	Het
Zfp385c	A	G	11: 100,548,291 (GRCm39)	S54P	probably damaging	Het
Zpld2	G	T	4: 133,930,278 (GRCm39)	T9K	unknown	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
R1663:Comp	UTSW	8	70,826,250 (GRCm39)	missense	possibly damaging	0.93
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
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'- TTGACTCCATCAAGGCCCAAATG -3'
(R):5'- GGTCACAAGCATCTCCGATG -3'

Sequencing Primer
(F):5'- ACCTAGGGCTCCTTCCAGTG -3'
(R):5'- CAGTTGTCCTGGGAAGCAG -3'

Posted On

2020-07-28