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) question?
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

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: ENSMUST00000076615
SMART Domains Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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