Incidental Mutation 'R7568:Comp'
| ID |
585584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Comp
|
| Ensembl Gene |
ENSMUSG00000031849 |
| Gene Name |
cartilage oligomeric matrix protein |
| Synonyms |
TSP5, thrombospondin-5 |
| MMRRC Submission |
045630-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R7568 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,391,956 (GRCm39) |
V97E |
possibly damaging |
Het |
| Actl7a |
A |
T |
4: 56,744,498 (GRCm39) |
T342S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,088,749 (GRCm39) |
S554P |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,780,638 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,060,390 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
C |
10: 127,961,139 (GRCm39) |
S1621P |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GGTTCTGTGGTCACT |
GGTTCTGTGGTCACTAGTTCTGTGGTCACT |
3: 95,795,484 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTCACTGGTTCTGTGGTCACTGGTTCTGTG |
GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG |
3: 95,795,463 (GRCm39) |
|
probably benign |
Het |
| Best1 |
T |
A |
19: 9,966,639 (GRCm39) |
|
probably null |
Het |
| Catip |
G |
T |
1: 74,408,089 (GRCm39) |
E474* |
probably null |
Het |
| Crebbp |
G |
A |
16: 3,944,353 (GRCm39) |
R600W |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,521,997 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
A |
G |
17: 35,995,174 (GRCm39) |
S675P |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,926,898 (GRCm39) |
|
probably null |
Het |
| F2rl1 |
G |
A |
13: 95,650,522 (GRCm39) |
A120V |
probably damaging |
Het |
| Fam136a |
A |
G |
6: 86,342,784 (GRCm39) |
N24D |
probably benign |
Het |
| Fbxw10 |
C |
A |
11: 62,765,994 (GRCm39) |
Q755K |
probably benign |
Het |
| Fbxw16 |
C |
A |
9: 109,268,657 (GRCm39) |
Q244H |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,807,119 (GRCm39) |
K373E |
probably benign |
Het |
| Herc3 |
G |
A |
6: 58,820,795 (GRCm39) |
V60I |
probably benign |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,477 (GRCm39) |
K51* |
probably null |
Het |
| Krt23 |
T |
A |
11: 99,383,626 (GRCm39) |
K89* |
probably null |
Het |
| Mavs |
A |
G |
2: 131,087,395 (GRCm39) |
T298A |
probably benign |
Het |
| Mlec |
T |
C |
5: 115,288,181 (GRCm39) |
Y198C |
probably damaging |
Het |
| Ncam2 |
C |
A |
16: 81,386,689 (GRCm39) |
N689K |
probably benign |
Het |
| Nfkbia |
A |
G |
12: 55,538,546 (GRCm39) |
I82T |
probably damaging |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,496 (GRCm39) |
I163V |
probably benign |
Het |
| Or12j2 |
A |
G |
7: 139,915,895 (GRCm39) |
N40S |
probably damaging |
Het |
| Or7a35 |
A |
T |
10: 78,853,341 (GRCm39) |
I62F |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,942 (GRCm39) |
Y258C |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,796 (GRCm39) |
I356F |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,168,096 (GRCm39) |
L719Q |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,752 (GRCm39) |
V365D |
possibly damaging |
Het |
| Scrn2 |
T |
C |
11: 96,921,712 (GRCm39) |
Y61H |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,914,602 (GRCm39) |
V1505M |
probably damaging |
Het |
| Slc2a10 |
A |
G |
2: 165,356,802 (GRCm39) |
N154S |
probably damaging |
Het |
| Slc39a10 |
A |
T |
1: 46,874,290 (GRCm39) |
H337Q |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,404,939 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
G |
6: 91,701,832 (GRCm39) |
L80R |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,590,074 (GRCm39) |
Y1404C |
probably damaging |
Het |
| Sowahc |
A |
G |
10: 59,059,121 (GRCm39) |
E419G |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,095,441 (GRCm39) |
|
probably null |
Het |
| Stab1 |
C |
A |
14: 30,874,552 (GRCm39) |
C952F |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,765,850 (GRCm39) |
M312T |
possibly damaging |
Het |
| Tex2 |
A |
G |
11: 106,439,562 (GRCm39) |
I606T |
unknown |
Het |
| Tex55 |
T |
C |
16: 38,648,809 (GRCm39) |
E100G |
possibly damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,813 (GRCm39) |
H122R |
possibly damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,886 (GRCm39) |
I308V |
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 |
|
|
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 |
|
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'- TGGGTAAAGCCGCTTAGTAG -3'
(R):5'- TCACTGCGATGTGCCTTCTG -3'
Sequencing Primer
(F):5'- CATGGTTGGACAGGAGGCC -3'
(R):5'- GCACCTGTTCTGCCCCG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation