Incidental Mutation 'BB017:Comp'
ID 642953
Institutional Source Beutler Lab
Gene Symbol Comp
Ensembl Gene ENSMUSG00000031849
Gene Name cartilage oligomeric matrix protein
Synonyms TSP5, thrombospondin-5
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # BB017
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 70826208-70834716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70826503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 26 (G26D)
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 damaging
Transcript: ENSMUST00000003659
AA Change: G26D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849
AA Change: G26D

DomainStartEndE-ValueType
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: ENSMUST00000213072
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 C T 8: 41,250,107 (GRCm39) T739I probably benign Het
Adam23 G T 1: 63,624,586 (GRCm39) V805F possibly damaging Het
Adamts17 A T 7: 66,499,547 (GRCm39) R31S probably damaging Het
Ano4 T A 10: 89,163,138 (GRCm39) Y27F possibly damaging Het
Bbs2 A G 8: 94,796,625 (GRCm39) V675A probably damaging Het
Brca2 A G 5: 150,481,975 (GRCm39) E2839G probably damaging Het
Capn5 C T 7: 97,773,085 (GRCm39) V640I probably benign Het
Casp4 C T 9: 5,321,318 (GRCm39) T23M probably damaging Het
Cerk C T 15: 86,028,920 (GRCm39) E379K possibly damaging Het
Cpxm1 G A 2: 130,236,982 (GRCm39) A220V possibly damaging Het
Cyp2c69 G T 19: 39,831,434 (GRCm39) P460T possibly damaging Het
Ddx23 T C 15: 98,546,504 (GRCm39) D555G probably damaging Het
E2f6 T A 12: 16,869,058 (GRCm39) I127K probably damaging Het
Efr3a T A 15: 65,733,589 (GRCm39) D716E probably benign Het
Esp16 T G 17: 39,850,868 (GRCm39) S82R possibly damaging Het
Fasn A C 11: 120,700,061 (GRCm39) S2199A probably benign Het
Fscb A G 12: 64,519,337 (GRCm39) S710P unknown Het
Gas7 A G 11: 67,556,217 (GRCm39) I185M probably damaging Het
Glg1 A T 8: 111,887,367 (GRCm39) L1047I possibly damaging Het
Golga5 A G 12: 102,450,681 (GRCm39) N445D probably benign Het
Grin2c A T 11: 115,147,063 (GRCm39) H377Q probably benign Het
Hmgcs1 T C 13: 120,161,499 (GRCm39) I97T possibly damaging Het
Ifi211 T C 1: 173,733,769 (GRCm39) T131A possibly damaging Het
Ifngr1 A G 10: 19,484,931 (GRCm39) K310R probably damaging Het
Il18rap T C 1: 40,587,803 (GRCm39) V467A probably damaging Het
Itgad C A 7: 127,782,280 (GRCm39) Q239K probably benign Het
Jrkl T C 9: 13,245,506 (GRCm39) I52V possibly damaging Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Krt75 C A 15: 101,473,318 (GRCm39) *552L probably null Het
Mbd2 A G 18: 70,701,948 (GRCm39) D154G probably damaging Het
Mutyh A T 4: 116,674,153 (GRCm39) N235Y probably benign Het
Myo5b A G 18: 74,864,825 (GRCm39) T1348A probably benign Het
Ndufs7 T C 10: 80,089,619 (GRCm39) probably null Het
Nup205 T G 6: 35,171,511 (GRCm39) M458R probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1e32 A C 11: 73,705,926 (GRCm39) probably benign Het
Or1j4 G T 2: 36,740,285 (GRCm39) V76F probably damaging Het
Or2at1 A T 7: 99,416,803 (GRCm39) T145S probably benign Het
Or5b119 G A 19: 13,457,019 (GRCm39) P181L probably damaging Het
Or6b2 T A 1: 92,407,570 (GRCm39) M258L probably benign Het
Or8b101 A G 9: 38,020,264 (GRCm39) N89S possibly damaging Het
Or8k25 T A 2: 86,243,560 (GRCm39) T279S probably damaging Het
Plcl2 T G 17: 50,913,831 (GRCm39) I280S probably benign Het
Ppargc1a A T 5: 51,630,264 (GRCm39) Y618N unknown Het
Rab43 A T 6: 87,788,348 (GRCm39) I60N probably damaging Het
Rnf126 A T 10: 79,596,726 (GRCm39) C231S probably damaging Het
Rnf220 T A 4: 117,164,787 (GRCm39) E238D probably damaging Het
Scn9a A T 2: 66,335,193 (GRCm39) D1265E probably damaging Het
Sntb2 T A 8: 107,728,269 (GRCm39) S406T probably damaging Het
Sos1 T C 17: 80,714,267 (GRCm39) I1068V probably benign Het
Spart A G 3: 55,035,697 (GRCm39) K519E probably damaging Het
Tlx3 A T 11: 33,153,058 (GRCm39) F134L probably damaging Het
Trbj1-2 A T 6: 41,510,964 (GRCm39) T10S Het
Txk A C 5: 72,892,536 (GRCm39) L33R probably damaging Het
Ulk2 A G 11: 61,682,258 (GRCm39) probably null Het
Usp20 T C 2: 30,900,556 (GRCm39) S357P probably benign Het
Wac T A 18: 7,921,560 (GRCm39) N565K possibly damaging Het
Zfp1007 A T 5: 109,823,622 (GRCm39) C609* probably null Het
Zfp709 G T 8: 72,644,684 (GRCm39) K704N probably damaging Het
Zfp788 C T 7: 41,299,049 (GRCm39) Q562* probably null Het
Other mutations in Comp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGGTAAAGCCGCTTAGTAGGG -3'
(R):5'- TCACTGCGATGTGCCTTCTG -3'

Sequencing Primer
(F):5'- CATGGTTGGACAGGAGGCC -3'
(R):5'- GCACCTGTTCTGCCCCG -3'
Posted On 2020-08-01