Mutagenetix > Incidental Mutation

Incidental Mutation 'R9273:Comp'

703094

Institutional Source

Beutler Lab

Gene Symbol

Comp

Ensembl Gene

ENSMUSG00000031849

Gene Name

cartilage oligomeric matrix protein

Synonyms

TSP5, thrombospondin-5

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9273 (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 70831285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 384 (N384S)

Ref Sequence

ENSEMBL: ENSMUSP00000003659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003659] [ENSMUST00000076615]

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: N384S

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

SMART Domains

Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849
AA Change: N384S

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: ENSMUST00000076615

SMART Domains

Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575

Domain	Start	End	E-Value	Type
Pfam:TORC_N	6	66	1.1e-26	PFAM
Pfam:TORC_M	148	289	4.8e-64	PFAM
low complexity region	359	394	N/A	INTRINSIC
Pfam:TORC_C	555	630	9.2e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212439

Predicted Effect

probably benign
Transcript: ENSMUST00000212488

Predicted Effect

probably benign
Transcript: ENSMUST00000213072

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,033,232 (GRCm39)	D728G	probably benign	Het
Adig	A	T	2: 158,347,727 (GRCm39)	D48V	probably damaging	Het
Adig	A	C	2: 158,349,890 (GRCm39)	*57S	probably null	Het
Amigo3	A	G	9: 107,932,020 (GRCm39)	D481G	probably damaging	Het
Atf6b	T	A	17: 34,872,968 (GRCm39)	M628K	probably damaging	Het
Atoh8	A	G	6: 72,212,129 (GRCm39)	L7P	probably damaging	Het
Bcl9	A	G	3: 97,115,959 (GRCm39)	S912P	probably damaging	Het
Card9	T	A	2: 26,247,310 (GRCm39)	I280F	probably damaging	Het
Ccr9	A	G	9: 123,609,085 (GRCm39)	T256A	probably benign	Het
Cd300lg	T	C	11: 101,939,590 (GRCm39)	I306T	probably damaging	Het
Cfap65	T	A	1: 74,960,769 (GRCm39)	M734L	probably benign	Het
Cobll1	A	G	2: 64,929,356 (GRCm39)	S657P	probably damaging	Het
Cps1	T	A	1: 67,191,445 (GRCm39)	V209D	possibly damaging	Het
Cwc22	A	T	2: 77,759,803 (GRCm39)	D81E	possibly damaging	Het
D630045J12Rik	G	A	6: 38,167,512 (GRCm39)	P1030L	possibly damaging	Het
Dcn	A	G	10: 97,343,637 (GRCm39)	Y199C	probably damaging	Het
Exosc3	A	T	4: 45,316,969 (GRCm39)	I228N	probably damaging	Het
Fbxo10	T	C	4: 45,062,178 (GRCm39)	H116R	probably benign	Het
Fbxo21	T	A	5: 118,146,108 (GRCm39)	I577N	probably damaging	Het
Flnc	A	T	6: 29,447,815 (GRCm39)	Q1206L	probably benign	Het
Fubp3	T	C	2: 31,503,056 (GRCm39)	F480L	probably benign	Het
Fzd5	T	C	1: 64,775,110 (GRCm39)	N217S	possibly damaging	Het
Garem1	G	A	18: 21,281,274 (GRCm39)	R361C	probably damaging	Het
Gcg	T	C	2: 62,306,133 (GRCm39)	M155V	probably null	Het
Gm7298	G	A	6: 121,756,604 (GRCm39)		probably benign	Het
Gpr160	T	A	3: 30,950,038 (GRCm39)	L37I	probably benign	Het
Grik1	G	A	16: 87,848,379 (GRCm39)	H130Y		Het
Hydin	T	A	8: 111,233,580 (GRCm39)	I1806N	probably damaging	Het
Isl1	A	T	13: 116,444,902 (GRCm39)	C42*	probably null	Het
Itpr2	T	C	6: 146,226,529 (GRCm39)	D1405G	probably damaging	Het
Kat6b	A	G	14: 21,711,551 (GRCm39)	N682D	probably benign	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kprp	A	C	3: 92,733,000 (GRCm39)	C17G	probably damaging	Het
Lsm14a	T	C	7: 34,088,225 (GRCm39)		probably benign	Het
Mrgpra2a	G	T	7: 47,076,307 (GRCm39)	T317K	probably benign	Het
Myh11	A	G	16: 14,054,283 (GRCm39)	V360A		Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Oaf	G	A	9: 43,133,966 (GRCm39)	P252S	probably benign	Het
Obox2	T	G	7: 15,131,290 (GRCm39)	V132G	unknown	Het
Or51v8	T	A	7: 103,319,633 (GRCm39)	T202S	probably benign	Het
Or52b1	A	G	7: 104,978,646 (GRCm39)	L251P	probably damaging	Het
Or5b109	C	T	19: 13,212,268 (GRCm39)	S218L	probably damaging	Het
Or5b12	T	C	19: 12,897,446 (GRCm39)	T76A	possibly damaging	Het
Pld2	T	A	11: 70,448,234 (GRCm39)	S894T	probably benign	Het
Plxna1	G	T	6: 89,296,364 (GRCm39)	S1893R	possibly damaging	Het
Prkd1	T	C	12: 50,472,232 (GRCm39)	E227G	possibly damaging	Het
Prox1	T	C	1: 189,893,242 (GRCm39)	N401S	possibly damaging	Het
Prune2	T	C	19: 17,095,690 (GRCm39)	V398A	possibly damaging	Het
Rasgef1a	A	G	6: 118,063,223 (GRCm39)	N285D	probably benign	Het
Rbbp5	A	G	1: 132,420,304 (GRCm39)	K179R	probably benign	Het
Rp9	G	A	9: 22,379,573 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,090 (GRCm39)	F588L	probably benign	Het
Sptan1	T	A	2: 29,880,977 (GRCm39)	D415E	possibly damaging	Het
Syne1	T	C	10: 4,990,901 (GRCm39)	K593E	probably benign	Het
Tab1	A	G	15: 80,041,904 (GRCm39)	T341A	probably benign	Het
Tmc4	T	C	7: 3,670,552 (GRCm39)	E513G	probably damaging	Het
Tmem131l	A	C	3: 83,848,244 (GRCm39)	V302G	probably damaging	Het
Tnip1	G	A	11: 54,807,783 (GRCm39)	H553Y	possibly damaging	Het
Tns2	C	T	15: 102,021,478 (GRCm39)	P1048S	probably damaging	Het
Twsg1	C	T	17: 66,233,306 (GRCm39)	V215I	probably damaging	Het
Txnl1	G	A	18: 63,825,325 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,839,862 (GRCm39)	Y330H	possibly damaging	Het
Utrn	A	T	10: 12,509,707 (GRCm39)	W2422R	probably damaging	Het
Vmn2r112	T	A	17: 22,837,721 (GRCm39)	D727E	probably damaging	Het
Vmn2r59	G	T	7: 41,695,286 (GRCm39)	C375*	probably null	Het
Vopp1	G	T	6: 57,731,575 (GRCm39)	Q139K	possibly damaging	Het
Vwa5b1	T	C	4: 138,316,005 (GRCm39)	D579G	probably damaging	Het
Wdr6	A	G	9: 108,450,691 (GRCm39)	Y971H	probably benign	Het
Zfp354c	A	G	11: 50,706,059 (GRCm39)	F339L	probably damaging	Het
Zfyve26	A	G	12: 79,317,610 (GRCm39)		probably null	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
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
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'- GGCCCAGCAACTTTGTAATG -3'
(R):5'- CAACTCTACAGCCAGGTCCTTC -3'

Sequencing Primer
(F):5'- GGCCCAGCAACTTTGTAATGTAACTG -3'
(R):5'- GGTCCTTCCCACCCCAAG -3'

Posted On

2022-03-25