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) question?
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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