Incidental Mutation 'R0659:Comp'
ID |
61789 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Comp
|
Ensembl Gene |
ENSMUSG00000031849 |
Gene Name |
cartilage oligomeric matrix protein |
Synonyms |
TSP5, thrombospondin-5 |
MMRRC Submission |
038844-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
R0659 (G1)
|
Quality Score |
98 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
70826208-70834716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70831751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 457
(S457P)
|
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 |
possibly damaging
Transcript: ENSMUST00000003659
AA Change: S457P
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000003659 Gene: ENSMUSG00000031849 AA Change: S457P
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
|
Meta Mutation Damage Score |
0.0677 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.6%
|
Validation Efficiency |
99% (72/73) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
G |
18: 59,140,565 (GRCm39) |
|
probably benign |
Het |
Ahnak |
A |
G |
19: 8,992,366 (GRCm39) |
H4550R |
possibly damaging |
Het |
Anxa6 |
A |
G |
11: 54,874,173 (GRCm39) |
V591A |
probably damaging |
Het |
Apol7c |
A |
G |
15: 77,410,473 (GRCm39) |
S158P |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,322,067 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
C |
9: 78,587,452 (GRCm39) |
|
probably benign |
Het |
Cep78 |
C |
T |
19: 15,933,554 (GRCm39) |
V675M |
probably damaging |
Het |
Ces4a |
T |
C |
8: 105,871,554 (GRCm39) |
|
probably benign |
Het |
Chpf |
A |
G |
1: 75,454,367 (GRCm39) |
V137A |
probably damaging |
Het |
Cth |
A |
G |
3: 157,625,752 (GRCm39) |
|
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,733,563 (GRCm39) |
L314P |
probably damaging |
Het |
Ets1 |
C |
T |
9: 32,649,589 (GRCm39) |
R309C |
probably damaging |
Het |
Foxp2 |
T |
C |
6: 15,254,278 (GRCm39) |
|
probably benign |
Het |
Gm9875 |
T |
G |
2: 13,562,995 (GRCm39) |
F108V |
unknown |
Het |
Golga5 |
G |
T |
12: 102,442,467 (GRCm39) |
V269F |
possibly damaging |
Het |
Greb1 |
T |
C |
12: 16,730,213 (GRCm39) |
Y1738C |
probably damaging |
Het |
Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
Hdac5 |
A |
T |
11: 102,086,850 (GRCm39) |
V70E |
probably damaging |
Het |
Hdac9 |
T |
C |
12: 34,487,221 (GRCm39) |
Q60R |
probably damaging |
Het |
Hsd17b3 |
T |
C |
13: 64,221,750 (GRCm39) |
T92A |
possibly damaging |
Het |
Itpk1 |
C |
T |
12: 102,572,337 (GRCm39) |
|
probably benign |
Het |
Lin28a |
T |
C |
4: 133,735,410 (GRCm39) |
|
probably benign |
Het |
Mapk6 |
T |
C |
9: 75,305,244 (GRCm39) |
S58G |
probably damaging |
Het |
Mmp21 |
G |
A |
7: 133,279,396 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
Mto1 |
C |
T |
9: 78,378,072 (GRCm39) |
T638M |
probably damaging |
Het |
Mto1 |
T |
A |
9: 78,364,790 (GRCm39) |
I343N |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,908,193 (GRCm39) |
K2027E |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,703,545 (GRCm39) |
|
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,256,703 (GRCm39) |
I107T |
probably damaging |
Het |
Or5k17 |
C |
A |
16: 58,746,772 (GRCm39) |
R54L |
possibly damaging |
Het |
Or8g37 |
T |
G |
9: 39,731,112 (GRCm39) |
M59R |
possibly damaging |
Het |
Osbpl5 |
A |
G |
7: 143,258,767 (GRCm39) |
S268P |
probably damaging |
Het |
Pih1d1 |
T |
A |
7: 44,809,399 (GRCm39) |
S289T |
probably benign |
Het |
Pik3c2b |
A |
G |
1: 132,998,938 (GRCm39) |
D353G |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,378,368 (GRCm39) |
L609P |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,100,199 (GRCm39) |
D1901V |
probably damaging |
Het |
Rdh9 |
T |
C |
10: 127,612,444 (GRCm39) |
Y31H |
possibly damaging |
Het |
Slc5a9 |
T |
A |
4: 111,741,068 (GRCm39) |
Y526F |
possibly damaging |
Het |
Slitrk5 |
A |
G |
14: 111,918,121 (GRCm39) |
K582E |
probably benign |
Het |
Sult1c2 |
A |
T |
17: 54,138,806 (GRCm39) |
M257K |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,624,448 (GRCm39) |
D1834G |
probably damaging |
Het |
Tmem132d |
A |
G |
5: 128,061,351 (GRCm39) |
I417T |
possibly damaging |
Het |
Tmem229b |
T |
C |
12: 79,011,908 (GRCm39) |
T8A |
probably benign |
Het |
Tmem237 |
T |
C |
1: 59,153,253 (GRCm39) |
I89M |
possibly damaging |
Het |
Tnfrsf17 |
A |
T |
16: 11,137,683 (GRCm39) |
D140V |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,807,647 (GRCm39) |
|
probably benign |
Het |
Trio |
A |
G |
15: 27,831,485 (GRCm39) |
L194P |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,605,122 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
A |
9: 67,828,217 (GRCm39) |
M1457K |
probably benign |
Het |
Zfhx2 |
A |
G |
14: 55,311,258 (GRCm39) |
C479R |
possibly damaging |
Het |
Zfp420 |
T |
A |
7: 29,574,964 (GRCm39) |
C395S |
probably damaging |
Het |
Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
Zfp82 |
C |
T |
7: 29,755,754 (GRCm39) |
E443K |
probably damaging |
Het |
Zranb2 |
A |
G |
3: 157,247,400 (GRCm39) |
S193G |
probably benign |
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 |
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 |
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'- GATGCCTGTGATAGTGACCAAGACC -3'
(R):5'- TATGCTAACTGCTGACCACGCC -3'
Sequencing Primer
(F):5'- CTGTGATAGTGACCAAGACCAGTAAG -3'
(R):5'- ACATCTGTTACTGACCAAGTCC -3'
|
Posted On |
2013-07-30 |