Incidental Mutation 'R5083:Comp'
ID |
387259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Comp
|
Ensembl Gene |
ENSMUSG00000031849 |
Gene Name |
cartilage oligomeric matrix protein |
Synonyms |
TSP5, thrombospondin-5 |
MMRRC Submission |
042672-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
R5083 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70826208-70834716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70833950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 655
(T655M)
|
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: T655M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003659 Gene: ENSMUSG00000031849 AA Change: T655M
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 |
unknown
Transcript: ENSMUST00000212488
AA Change: T66M
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213072
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
C |
T |
17: 48,473,558 (GRCm39) |
V120M |
possibly damaging |
Het |
Abca6 |
T |
C |
11: 110,109,793 (GRCm39) |
D646G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,364,293 (GRCm39) |
T554A |
possibly damaging |
Het |
Atp2a3 |
G |
T |
11: 72,873,652 (GRCm39) |
V824L |
probably null |
Het |
Bet1 |
T |
C |
6: 4,077,895 (GRCm39) |
I115V |
possibly damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cfap65 |
A |
G |
1: 74,945,600 (GRCm39) |
S1373P |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,711,002 (GRCm39) |
L353P |
probably damaging |
Het |
Chil3 |
C |
A |
3: 106,071,405 (GRCm39) |
|
probably null |
Het |
Dctd |
T |
C |
8: 48,564,751 (GRCm39) |
Y18H |
probably damaging |
Het |
Ddx39b |
G |
A |
17: 35,472,005 (GRCm39) |
G348D |
possibly damaging |
Het |
Dhx36 |
A |
T |
3: 62,379,420 (GRCm39) |
S889R |
probably benign |
Het |
Dtx2 |
T |
C |
5: 136,041,044 (GRCm39) |
Y150H |
probably damaging |
Het |
Epx |
A |
G |
11: 87,763,506 (GRCm39) |
F238S |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,097,512 (GRCm39) |
T154A |
probably benign |
Het |
Esco1 |
A |
G |
18: 10,594,734 (GRCm39) |
I184T |
probably benign |
Het |
Esf1 |
G |
T |
2: 139,998,991 (GRCm39) |
A495E |
possibly damaging |
Het |
Esf1 |
T |
C |
2: 140,000,499 (GRCm39) |
Y429C |
possibly damaging |
Het |
Fcho1 |
C |
A |
8: 72,169,820 (GRCm39) |
R101L |
probably benign |
Het |
Foxn4 |
T |
A |
5: 114,394,988 (GRCm39) |
D313V |
probably damaging |
Het |
Gm11568 |
T |
C |
11: 99,748,798 (GRCm39) |
M1T |
probably null |
Het |
Gphn |
T |
A |
12: 78,670,063 (GRCm39) |
|
probably null |
Het |
Grid2 |
C |
T |
6: 64,297,136 (GRCm39) |
Q500* |
probably null |
Het |
Igsf10 |
A |
G |
3: 59,233,694 (GRCm39) |
S1680P |
probably damaging |
Het |
Ints12 |
T |
C |
3: 132,806,538 (GRCm39) |
M155T |
possibly damaging |
Het |
Invs |
A |
T |
4: 48,396,307 (GRCm39) |
M327L |
possibly damaging |
Het |
Kdm3a |
T |
C |
6: 71,598,346 (GRCm39) |
E180G |
probably damaging |
Het |
Mgat3 |
G |
A |
15: 80,095,499 (GRCm39) |
V109M |
possibly damaging |
Het |
Mrgprb3 |
A |
G |
7: 48,292,762 (GRCm39) |
V263A |
probably benign |
Het |
Mroh7 |
A |
T |
4: 106,547,515 (GRCm39) |
V1109D |
probably benign |
Het |
Myo15b |
A |
T |
11: 115,757,482 (GRCm39) |
T1111S |
probably benign |
Het |
Myo19 |
G |
T |
11: 84,794,037 (GRCm39) |
A654S |
possibly damaging |
Het |
Mypn |
A |
T |
10: 62,954,307 (GRCm39) |
V1224D |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,560,706 (GRCm39) |
|
probably null |
Het |
Or2a52 |
G |
T |
6: 43,144,273 (GRCm39) |
A94S |
probably benign |
Het |
Or52e7 |
A |
T |
7: 104,684,618 (GRCm39) |
Y71F |
probably damaging |
Het |
Or8c10 |
G |
A |
9: 38,279,358 (GRCm39) |
C172Y |
possibly damaging |
Het |
Pdcd2 |
A |
G |
17: 15,743,084 (GRCm39) |
I247T |
possibly damaging |
Het |
Pik3c2a |
A |
T |
7: 115,941,636 (GRCm39) |
N1571K |
probably damaging |
Het |
Plagl2 |
T |
C |
2: 153,077,964 (GRCm39) |
T6A |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
Sdccag8 |
C |
A |
1: 176,652,458 (GRCm39) |
H70N |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,886,630 (GRCm39) |
R359G |
probably benign |
Het |
Slc44a5 |
A |
T |
3: 153,953,424 (GRCm39) |
I269L |
probably benign |
Het |
Slfn10-ps |
T |
A |
11: 82,921,341 (GRCm39) |
|
noncoding transcript |
Het |
Suclg1 |
C |
A |
6: 73,240,963 (GRCm39) |
T164K |
probably benign |
Het |
Tgds |
C |
A |
14: 118,353,491 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,643,877 (GRCm39) |
D13117G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,701,081 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,483,671 (GRCm39) |
I843N |
possibly damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,893,392 (GRCm39) |
Y582* |
probably null |
Het |
Vps33b |
G |
T |
7: 79,924,389 (GRCm39) |
K65N |
probably damaging |
Het |
Zfp1010 |
A |
G |
2: 176,957,364 (GRCm39) |
F45L |
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 |
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'- AATTCACACAGACTCCTGGCTC -3'
(R):5'- ATGTACTGTAAACGGAGCCC -3'
Sequencing Primer
(F):5'- TGGCTCCACTACCCACAGTG -3'
(R):5'- CGTTTCTCCTGGAGCAGCAG -3'
|
Posted On |
2016-06-06 |