Incidental Mutation 'R2362:Thbd'
ID 247163
Institutional Source Beutler Lab
Gene Symbol Thbd
Ensembl Gene ENSMUSG00000074743
Gene Name thrombomodulin
Synonyms CD141, TM
MMRRC Submission 040343-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2362 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 148246391-148250108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148248284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 528 (L528P)
Ref Sequence ENSEMBL: ENSMUSP00000096877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099270]
AlphaFold P15306
Predicted Effect probably damaging
Transcript: ENSMUST00000099270
AA Change: L528P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: L528P

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
CLECT 24 166 2.78e-18 SMART
EGF 243 280 2.2e1 SMART
EGF 286 323 1.47e-3 SMART
EGF_CA 324 362 7.81e-8 SMART
EGF 367 404 3.57e-2 SMART
EGF 406 439 2.53e1 SMART
EGF 443 480 2.39e1 SMART
low complexity region 490 511 N/A INTRINSIC
transmembrane domain 519 541 N/A INTRINSIC
Meta Mutation Damage Score 0.5919 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants are growth retarded and die by embryonic day 9.5. Embryos develop further in vitro than in vivo suggesting maternal-fetal incompatibility. Endothelial cell-specific, conditional knockouts suffer fatal juvenile thromboses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik A T 6: 132,604,442 (GRCm39) M1K probably null Het
Aadat A G 8: 60,985,332 (GRCm39) probably benign Het
Acsm5 T C 7: 119,127,649 (GRCm39) probably benign Het
Avl9 A T 6: 56,713,555 (GRCm39) N271I probably benign Het
Ccdc30 T A 4: 119,181,253 (GRCm39) N636I probably damaging Het
Cdr2 T G 7: 120,569,554 (GRCm39) I62L possibly damaging Het
Ceacam23 T G 7: 17,636,398 (GRCm39) noncoding transcript Het
Clk3 T C 9: 57,661,902 (GRCm39) I382V possibly damaging Het
Ctsr T A 13: 61,310,610 (GRCm39) E45V probably damaging Het
Cyp2b19 A G 7: 26,463,802 (GRCm39) Y318C probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dapk1 A G 13: 60,878,745 (GRCm39) N578S probably damaging Het
Dlg5 A T 14: 24,208,755 (GRCm39) M817K probably benign Het
Dtx4 A G 19: 12,469,899 (GRCm39) V76A probably damaging Het
Eps15 T C 4: 109,218,427 (GRCm39) V430A probably benign Het
Fhip2b A G 14: 70,823,805 (GRCm39) Y568H probably benign Het
Fxyd5 T C 7: 30,735,896 (GRCm39) N104S probably benign Het
Ift122 A G 6: 115,861,311 (GRCm39) D193G probably damaging Het
Lrrcc1 A G 3: 14,628,084 (GRCm39) E542G probably damaging Het
Macc1 T C 12: 119,411,393 (GRCm39) probably benign Het
Ndst3 T A 3: 123,346,327 (GRCm39) Y234F possibly damaging Het
Or5b120 A T 19: 13,479,872 (GRCm39) H55L probably damaging Het
Pes1 T C 11: 3,927,123 (GRCm39) F429S probably damaging Het
Polr3e C G 7: 120,541,787 (GRCm39) D623E probably damaging Het
Rapgef6 T C 11: 54,585,098 (GRCm39) Y1494H probably damaging Het
Rbm14 T C 19: 4,851,735 (GRCm39) probably benign Het
Rnf103 A G 6: 71,487,001 (GRCm39) D544G probably benign Het
Slc10a7 A G 8: 79,236,261 (GRCm39) I20V probably damaging Het
Sort1 C T 3: 108,253,981 (GRCm39) T549I possibly damaging Het
Stambpl1 G A 19: 34,213,754 (GRCm39) V328I probably benign Het
Wbp11 A T 6: 136,801,330 (GRCm39) M63K probably damaging Het
Wdr11 T A 7: 129,236,560 (GRCm39) I1178N probably benign Het
Other mutations in Thbd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Thbd APN 2 148,249,602 (GRCm39) nonsense probably null
IGL01510:Thbd APN 2 148,248,894 (GRCm39) missense probably damaging 1.00
IGL01845:Thbd APN 2 148,249,016 (GRCm39) missense probably benign
IGL01892:Thbd APN 2 148,248,988 (GRCm39) missense possibly damaging 0.68
IGL02039:Thbd APN 2 148,248,462 (GRCm39) missense probably benign 0.05
IGL02261:Thbd APN 2 148,248,401 (GRCm39) missense probably benign
IGL02941:Thbd APN 2 148,248,954 (GRCm39) missense probably damaging 1.00
IGL03110:Thbd APN 2 148,248,716 (GRCm39) missense probably benign
IGL03111:Thbd APN 2 148,248,392 (GRCm39) missense probably benign 0.00
F5770:Thbd UTSW 2 148,249,110 (GRCm39) missense probably benign 0.05
PIT4283001:Thbd UTSW 2 148,249,003 (GRCm39) missense probably benign 0.19
R0102:Thbd UTSW 2 148,248,903 (GRCm39) missense probably damaging 1.00
R0102:Thbd UTSW 2 148,248,903 (GRCm39) missense probably damaging 1.00
R1847:Thbd UTSW 2 148,249,604 (GRCm39) nonsense probably null
R1957:Thbd UTSW 2 148,248,899 (GRCm39) missense probably damaging 0.97
R2320:Thbd UTSW 2 148,248,566 (GRCm39) missense probably damaging 1.00
R2900:Thbd UTSW 2 148,248,134 (GRCm39) makesense probably null
R3623:Thbd UTSW 2 148,248,893 (GRCm39) missense probably damaging 1.00
R4839:Thbd UTSW 2 148,248,591 (GRCm39) missense probably damaging 1.00
R4936:Thbd UTSW 2 148,249,655 (GRCm39) missense probably damaging 1.00
R5296:Thbd UTSW 2 148,248,903 (GRCm39) missense probably damaging 1.00
R5521:Thbd UTSW 2 148,249,655 (GRCm39) missense probably damaging 1.00
R5677:Thbd UTSW 2 148,249,286 (GRCm39) missense probably damaging 1.00
R6581:Thbd UTSW 2 148,248,192 (GRCm39) missense probably benign
R7139:Thbd UTSW 2 148,248,461 (GRCm39) missense probably benign 0.37
R7246:Thbd UTSW 2 148,248,405 (GRCm39) missense probably benign
R7655:Thbd UTSW 2 148,249,340 (GRCm39) missense probably damaging 1.00
R7656:Thbd UTSW 2 148,249,340 (GRCm39) missense probably damaging 1.00
R7752:Thbd UTSW 2 148,248,894 (GRCm39) missense probably damaging 0.99
R7867:Thbd UTSW 2 148,249,664 (GRCm39) missense probably damaging 1.00
R8398:Thbd UTSW 2 148,248,600 (GRCm39) missense probably benign 0.00
R8429:Thbd UTSW 2 148,249,457 (GRCm39) missense possibly damaging 0.70
R8986:Thbd UTSW 2 148,248,480 (GRCm39) missense probably damaging 1.00
V7582:Thbd UTSW 2 148,249,110 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTGGGTCTCTGGAGCAAATC -3'
(R):5'- ACCAGTGAATGTCGAAACTTCC -3'

Sequencing Primer
(F):5'- GGAGCAAATCCCTCAGAACTTCTG -3'
(R):5'- GTGAATGTCGAAACTTCCCTGGC -3'
Posted On 2014-10-30