Table 7.
LoF mutants in genes encoding thrombospondin-1 receptors
| Gene | Expected LoF mutants | Observed LoF mutants | Observed/expected (90% range) | pLI | Null mouse phenotype |
|---|---|---|---|---|---|
| CD36 | 23.4 | 66 | 2.82 (1.77–2) | 0.0 | Viable |
| CD47 | 16.9 | 2 | 0.12 (0.05–0.37) | 0.92 | Viable |
| PTPRJ (CD148) | 62.4 | 29 | 0.46 (0.34–0.63) | 0.0 | Viable/lethal |
| CACNA2D1 (α2δ1) | 74.4 | 11 | 0.15 (0.09–0.24) | 1.00 | Viable |
| STIM1 | 31.3 | 6 | 0.19 (0.1–0.38) | 0.78 | Peri- and postnatal lethal |
| LRP1 | 246.9 | 8 | 0.03 (0.02–0.06) | 1.00 | Embryonic lethal |
| ITGA3 | 58.9 | 22 | 0.37 (0.27–0.53) | 0.0 | Perinatal lethal |
| ITGA4 | 62.9 | 19 | 0.3 (0.21–0.44) | 0.0 | Embryonic lethal |
| ITGA6 | 61.6 | 23 | 0.37 (0.27–0.53) | 0.0 | Perinatal lethal |
| ITGB1 | 38.7 | 6 | 0.15 (0.08–0.31) | 0.98 | Embryonic lethal |
| ITGAV | 62.9 | 19 | 0.3 (0.21–0.44) | 0.0 | Viable |
| ITGB3 | 37.4 | 12 | 0.32 (0.2–0.52) | 0.0 | Reduced viability |