Incidental Mutation 'R2320:Thbd'
ID 245604
Institutional Source Beutler Lab
Gene Symbol Thbd
Ensembl Gene ENSMUSG00000074743
Gene Name thrombomodulin
Synonyms CD141, TM
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2320 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 148246391-148250108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148248566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 434 (E434G)
Ref Sequence ENSEMBL: ENSMUSP00000096877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099270]
AlphaFold P15306
Predicted Effect probably damaging
Transcript: ENSMUST00000099270
AA Change: E434G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: E434G

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
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 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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc10 T C 8: 80,501,708 (GRCm39) Y159H probably benign Het
Arid1a A T 4: 133,407,840 (GRCm39) N2222K unknown Het
Cpxm1 A G 2: 130,236,131 (GRCm39) Y344H probably damaging Het
Itpr3 T C 17: 27,314,889 (GRCm39) S679P probably benign Het
Macf1 T C 4: 123,333,288 (GRCm39) T2376A probably benign Het
Med4 T A 14: 73,755,373 (GRCm39) M227K possibly damaging Het
Ncan T C 8: 70,560,868 (GRCm39) I700V probably benign Het
Or1j15 T A 2: 36,458,637 (GRCm39) V9E possibly damaging Het
Pik3c2b A T 1: 133,031,151 (GRCm39) S1486C probably damaging Het
Ralbp1 A G 17: 66,159,742 (GRCm39) I507T possibly damaging Het
Rpl4 C T 9: 64,082,881 (GRCm39) R100C probably damaging Het
Scn5a C A 9: 119,359,022 (GRCm39) probably null Het
Serhl A G 15: 82,986,073 (GRCm39) D2G probably damaging Het
Trim17 T C 11: 58,857,624 (GRCm39) Y152H probably benign Het
Vmn1r38 G A 6: 66,753,534 (GRCm39) T194I possibly damaging Het
Wdhd1 C T 14: 47,511,485 (GRCm39) V76I probably benign Het
Zfp709 T A 8: 72,641,136 (GRCm39) V11E probably damaging 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
R2362:Thbd UTSW 2 148,248,284 (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'- TGGAGATGCCAATGAGCACG -3'
(R):5'- ACTGCGAGTTTCAGTGCCAG -3'

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