Incidental Mutation 'R7541:Comp'
| ID |
583891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Comp
|
| Ensembl Gene |
ENSMUSG00000031849 |
| Gene Name |
cartilage oligomeric matrix protein |
| Synonyms |
TSP5, thrombospondin-5 |
| MMRRC Submission |
045613-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R7541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70826208-70834716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 70834000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 672
(V672L)
|
| 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: V672L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849
AA Change: V672L
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213072
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,416,610 (GRCm39) |
|
probably null |
Het |
| Adamts10 |
G |
A |
17: 33,750,590 (GRCm39) |
R210H |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,206,775 (GRCm39) |
|
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,063,652 (GRCm39) |
M652K |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,803,491 (GRCm39) |
I560M |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,782,434 (GRCm39) |
D602G |
possibly damaging |
Het |
| Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
| Cd200l2 |
T |
A |
16: 45,348,855 (GRCm39) |
T106S |
possibly damaging |
Het |
| Cdh4 |
A |
G |
2: 179,086,603 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
T |
A |
1: 118,470,727 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,644,523 (GRCm39) |
I1255T |
probably damaging |
Het |
| Dbnl |
T |
G |
11: 5,745,486 (GRCm39) |
D122E |
probably damaging |
Het |
| Dgkz |
G |
A |
2: 91,773,020 (GRCm39) |
R346C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 106,033,346 (GRCm39) |
I121T |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,699,574 (GRCm39) |
L614P |
probably damaging |
Het |
| Fbh1 |
T |
C |
2: 11,754,348 (GRCm39) |
R797G |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,843,681 (GRCm39) |
C856* |
probably null |
Het |
| Gata6 |
A |
G |
18: 11,059,108 (GRCm39) |
T392A |
probably damaging |
Het |
| Gm29609 |
A |
G |
5: 31,311,576 (GRCm39) |
F855S |
probably benign |
Het |
| Gm3424 |
T |
C |
14: 17,337,195 (GRCm39) |
N88D |
possibly damaging |
Het |
| Gnas |
T |
A |
2: 174,139,892 (GRCm39) |
S80T |
unknown |
Het |
| Hsd17b14 |
C |
A |
7: 45,215,570 (GRCm39) |
P190Q |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,352,803 (GRCm39) |
V955I |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,304,122 (GRCm39) |
V164A |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,336,515 (GRCm39) |
L46P |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,984,748 (GRCm39) |
M237V |
probably benign |
Het |
| Lmbr1l |
A |
T |
15: 98,807,267 (GRCm39) |
|
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,517,686 (GRCm39) |
I408V |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,186,791 (GRCm39) |
S365G |
unknown |
Het |
| Marchf2 |
A |
T |
17: 33,922,032 (GRCm39) |
C109* |
probably null |
Het |
| Metrnl |
T |
A |
11: 121,606,796 (GRCm39) |
C284S |
probably damaging |
Het |
| Mmachc |
G |
A |
4: 116,563,082 (GRCm39) |
T91I |
probably benign |
Het |
| Mrps7 |
T |
G |
11: 115,497,696 (GRCm39) |
M187R |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,978,336 (GRCm39) |
E845G |
probably damaging |
Het |
| Nscme3l |
G |
A |
19: 5,553,439 (GRCm39) |
P114L |
probably benign |
Het |
| Ooep |
T |
A |
9: 78,285,347 (GRCm39) |
T90S |
possibly damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,376 (GRCm39) |
D139E |
probably benign |
Het |
| Or2y1g |
T |
A |
11: 49,171,160 (GRCm39) |
F62I |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,624,662 (GRCm39) |
D664V |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,763,949 (GRCm39) |
S336P |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 24,815,553 (GRCm39) |
D71E |
probably benign |
Het |
| Reep6 |
G |
T |
10: 80,171,033 (GRCm39) |
R303L |
possibly damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,935,297 (GRCm39) |
S137C |
|
Het |
| Rnf220 |
A |
T |
4: 117,347,127 (GRCm39) |
L95H |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
A |
T |
2: 32,708,517 (GRCm39) |
S83T |
probably damaging |
Het |
| Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,958,617 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,621,645 (GRCm39) |
D15598E |
probably damaging |
Het |
| Vav2 |
T |
A |
2: 27,165,014 (GRCm39) |
R645W |
probably damaging |
Het |
| Vmn1r169 |
T |
A |
7: 23,277,412 (GRCm39) |
V268D |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,735,279 (GRCm39) |
C365S |
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 |
|
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 |
|
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'- TGCCCTCTTGAAGCAAGGAC -3'
(R):5'- CCTGTACATAGGAGGTATTGGG -3'
Sequencing Primer
(F):5'- TCTTGAAGCAAGGACCTTCC -3'
(R):5'- GGTTCTGGCATCTCCCCGTAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation