Incidental Mutation 'R6965:Comp'
| ID |
541949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Comp
|
| Ensembl Gene |
ENSMUSG00000031849 |
| Gene Name |
cartilage oligomeric matrix protein |
| Synonyms |
TSP5, thrombospondin-5 |
| MMRRC Submission |
045075-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R6965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70826208-70834716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70829164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 278
(L278P)
|
| 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: L278P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849
AA Change: L278P
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
T |
7: 119,882,452 (GRCm39) |
Q1205* |
probably null |
Het |
| Als2 |
A |
G |
1: 59,209,716 (GRCm39) |
F1422S |
possibly damaging |
Het |
| Anapc4 |
T |
C |
5: 52,993,093 (GRCm39) |
V68A |
possibly damaging |
Het |
| Atmin |
T |
C |
8: 117,683,777 (GRCm39) |
F479S |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,518,101 (GRCm39) |
T234A |
probably benign |
Het |
| Bpifa1 |
G |
A |
2: 153,987,581 (GRCm39) |
G144S |
probably damaging |
Het |
| Brf2 |
A |
T |
8: 27,614,586 (GRCm39) |
M200K |
probably benign |
Het |
| C1ql2 |
G |
A |
1: 120,268,944 (GRCm39) |
C33Y |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,045,319 (GRCm39) |
V269A |
probably damaging |
Het |
| Clcc1 |
T |
C |
3: 108,580,625 (GRCm39) |
V313A |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,052,845 (GRCm39) |
T1117S |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,247,533 (GRCm39) |
E236K |
probably damaging |
Het |
| Csnk2a1-ps3 |
C |
T |
1: 156,352,119 (GRCm39) |
R107* |
probably null |
Het |
| Dlg5 |
C |
A |
14: 24,199,498 (GRCm39) |
D1469Y |
probably damaging |
Het |
| Efna1 |
A |
T |
3: 89,186,782 (GRCm39) |
V23D |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epb41l4b |
T |
C |
4: 57,040,915 (GRCm39) |
Y516C |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,168,631 (GRCm39) |
D526G |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,712,477 (GRCm39) |
T514A |
probably benign |
Het |
| Fcmr |
A |
C |
1: 130,803,724 (GRCm39) |
E176A |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,339,685 (GRCm39) |
N1485K |
possibly damaging |
Het |
| Fut2 |
A |
G |
7: 45,300,305 (GRCm39) |
C156R |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,786,027 (GRCm39) |
Y116C |
probably benign |
Het |
| Gm5493 |
T |
A |
17: 22,967,047 (GRCm39) |
V61E |
possibly damaging |
Het |
| Golga4 |
A |
T |
9: 118,377,847 (GRCm39) |
Q456L |
probably damaging |
Het |
| Gpam |
T |
C |
19: 55,063,041 (GRCm39) |
Y757C |
probably damaging |
Het |
| Iqcg |
C |
T |
16: 32,851,174 (GRCm39) |
A266T |
probably benign |
Het |
| Lta4h |
G |
T |
10: 93,307,759 (GRCm39) |
G331* |
probably null |
Het |
| Macf1 |
C |
A |
4: 123,302,538 (GRCm39) |
V655F |
probably benign |
Het |
| Map3k13 |
T |
A |
16: 21,740,900 (GRCm39) |
D742E |
probably benign |
Het |
| Mrgprb2 |
G |
A |
7: 48,202,597 (GRCm39) |
L43F |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,571,461 (GRCm39) |
R846G |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,970,863 (GRCm39) |
I282T |
probably benign |
Het |
| Ncor1 |
C |
T |
11: 62,244,059 (GRCm39) |
|
probably null |
Het |
| Or4a77 |
G |
T |
2: 89,487,009 (GRCm39) |
P259T |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,066,120 (GRCm39) |
F12S |
possibly damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,433 (GRCm39) |
M1K |
probably null |
Het |
| Pclo |
A |
G |
5: 14,731,976 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
G |
T |
17: 31,662,861 (GRCm39) |
V97L |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,881 (GRCm39) |
Y771C |
possibly damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,551,284 (GRCm39) |
D94N |
probably damaging |
Het |
| Rnpep |
T |
A |
1: 135,190,858 (GRCm39) |
K602* |
probably null |
Het |
| Rph3al |
T |
C |
11: 75,745,276 (GRCm39) |
Y156C |
probably damaging |
Het |
| Rundc1 |
A |
T |
11: 101,324,737 (GRCm39) |
Y481F |
possibly damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,509,859 (GRCm39) |
K17R |
possibly damaging |
Het |
| Smpd3 |
T |
C |
8: 106,986,513 (GRCm39) |
H459R |
probably damaging |
Het |
| Spata31 |
A |
C |
13: 65,070,648 (GRCm39) |
Q932P |
possibly damaging |
Het |
| Srgap3 |
C |
T |
6: 112,700,090 (GRCm39) |
A963T |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,179,120 (GRCm39) |
F4451L |
possibly damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,014,266 (GRCm39) |
|
probably null |
Het |
| Thap12 |
T |
A |
7: 98,364,669 (GRCm39) |
V279D |
probably damaging |
Het |
| Tmprss6 |
T |
C |
15: 78,328,328 (GRCm39) |
D544G |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,164,930 (GRCm39) |
*523W |
probably null |
Het |
| Txnrd1 |
T |
C |
10: 82,717,652 (GRCm39) |
I212T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,685,725 (GRCm39) |
I2283T |
probably benign |
Het |
| Vmn1r176 |
A |
G |
7: 23,535,099 (GRCm39) |
I18T |
possibly damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,651,100 (GRCm39) |
H166Q |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,991,059 (GRCm39) |
V723A |
possibly 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 |
|
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 |
|
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'- TGCCATGAGAAAGCAAACTGC -3'
(R):5'- ATCCGGGTCACAAGCATCTC -3'
Sequencing Primer
(F):5'- AAACTGCGTCCTGGAGC -3'
(R):5'- GGTCACAAGCATCTCCGATG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation