Incidental Mutation 'R3836:Comp'
| ID |
275644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Comp
|
| Ensembl Gene |
ENSMUSG00000031849 |
| Gene Name |
cartilage oligomeric matrix protein |
| Synonyms |
TSP5, thrombospondin-5 |
| MMRRC Submission |
040891-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R3836 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70826208-70834716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70826509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 28
(D28G)
|
| 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 benign
Transcript: ENSMUST00000003659
AA Change: D28G
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849
AA Change: D28G
| 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 |
noncoding transcript
Transcript: ENSMUST00000212439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213072
|
| Meta Mutation Damage Score |
0.1169 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
| Aasdh |
A |
G |
5: 77,026,315 (GRCm39) |
V903A |
probably benign |
Het |
| Afg2a |
T |
A |
3: 37,487,792 (GRCm39) |
Y428N |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,817,531 (GRCm39) |
D271V |
probably damaging |
Het |
| Ano10 |
C |
T |
9: 122,092,829 (GRCm39) |
V167M |
possibly damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
| Bub1 |
G |
T |
2: 127,656,806 (GRCm39) |
P442Q |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,722,790 (GRCm39) |
E476G |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,800,439 (GRCm39) |
V61A |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,844,623 (GRCm39) |
|
probably null |
Het |
| Dtna |
A |
T |
18: 23,758,159 (GRCm39) |
Q488L |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,078,378 (GRCm39) |
L565R |
probably damaging |
Het |
| Extl2 |
T |
C |
3: 115,818,006 (GRCm39) |
I106T |
probably benign |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Fnbp4 |
A |
G |
2: 90,577,129 (GRCm39) |
T154A |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,781,290 (GRCm39) |
L32P |
probably damaging |
Het |
| Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
T |
G |
4: 96,650,334 (GRCm39) |
T171P |
probably damaging |
Het |
| Gm4868 |
A |
C |
5: 125,925,014 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
| Gstm5 |
T |
C |
3: 107,803,678 (GRCm39) |
I37T |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itga11 |
G |
T |
9: 62,676,565 (GRCm39) |
V918L |
probably benign |
Het |
| Itgb2l |
T |
A |
16: 96,227,367 (GRCm39) |
M559L |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,984,988 (GRCm39) |
|
probably null |
Het |
| Map3k11 |
A |
G |
19: 5,740,831 (GRCm39) |
E186G |
possibly damaging |
Het |
| Mbl2 |
T |
C |
19: 30,216,914 (GRCm39) |
F242S |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,672,675 (GRCm39) |
T102A |
possibly damaging |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Mkln1 |
A |
G |
6: 31,445,271 (GRCm39) |
D389G |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,921,831 (GRCm39) |
S96N |
probably benign |
Het |
| Myd88 |
A |
G |
9: 119,167,259 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
| Nprl3 |
C |
T |
11: 32,183,082 (GRCm39) |
E502K |
probably damaging |
Het |
| Nudt5 |
T |
A |
2: 5,871,158 (GRCm39) |
|
probably null |
Het |
| Or52b2 |
G |
A |
7: 104,986,417 (GRCm39) |
P169S |
probably benign |
Het |
| Or5h23 |
A |
G |
16: 58,906,586 (GRCm39) |
S87P |
possibly damaging |
Het |
| Or6c69b |
C |
T |
10: 129,627,039 (GRCm39) |
V140M |
probably benign |
Het |
| Or8j3 |
A |
G |
2: 86,029,006 (GRCm39) |
V30A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,475,159 (GRCm39) |
|
probably null |
Het |
| Ptk2b |
A |
G |
14: 66,393,791 (GRCm39) |
L894P |
probably damaging |
Het |
| Rab8b |
A |
G |
9: 66,755,078 (GRCm39) |
S183P |
probably benign |
Het |
| Reln |
A |
G |
5: 22,116,012 (GRCm39) |
Y2999H |
probably damaging |
Het |
| Rims4 |
A |
G |
2: 163,760,573 (GRCm39) |
S11P |
possibly damaging |
Het |
| Scel |
A |
G |
14: 103,829,822 (GRCm39) |
K448R |
possibly damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,463,816 (GRCm39) |
T33S |
probably benign |
Het |
| Sgip1 |
A |
G |
4: 102,724,897 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,807,176 (GRCm39) |
M158K |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 127,861,949 (GRCm39) |
I724N |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,614,055 (GRCm39) |
T738A |
probably benign |
Het |
| Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
| Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,533 (GRCm39) |
E20D |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
C |
A |
6: 123,830,044 (GRCm39) |
D36Y |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,482,511 (GRCm39) |
V946A |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,927,004 (GRCm39) |
E1265G |
probably damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,700,019 (GRCm39) |
T14I |
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 |
|
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 |
|
|
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'- GGGTAAAGCCGCTTAGTAGG -3'
(R):5'- TCACTGCGATGTGCCTTCTG -3'
Sequencing Primer
(F):5'- CATGGTTGGACAGGAGGCC -3'
(R):5'- GCACCTGTTCTGCCCCG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation