Incidental Mutation 'R7752:Thbd'
ID 597280
Institutional Source Beutler Lab
Gene Symbol Thbd
Ensembl Gene ENSMUSG00000074743
Gene Name thrombomodulin
Synonyms CD141, TM
MMRRC Submission 045808-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7752 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 148246391-148250108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 148248894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 325 (V325L)
Ref Sequence ENSEMBL: ENSMUSP00000096877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099270]
AlphaFold P15306
Predicted Effect probably damaging
Transcript: ENSMUST00000099270
AA Change: V325L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: V325L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 A T 5: 137,665,966 (GRCm39) F98I probably damaging Het
Akap13 T A 7: 75,327,006 (GRCm39) N668K possibly damaging Het
Aox4 G A 1: 58,293,107 (GRCm39) V868I not run Het
Ccdc39 T C 3: 33,886,766 (GRCm39) R281G possibly damaging Het
Ccnt1 A T 15: 98,441,797 (GRCm39) D490E probably benign Het
Cfhr2 T A 1: 139,741,322 (GRCm39) I218F probably damaging Het
Clcn4 T C 7: 7,296,936 (GRCm39) K234R probably benign Het
Col4a2 A T 8: 11,479,358 (GRCm39) D747V probably benign Het
Cplane1 A G 15: 8,299,190 (GRCm39) E3126G unknown Het
Csf1r T A 18: 61,243,368 (GRCm39) L128Q probably damaging Het
Dcp1b G T 6: 119,152,318 (GRCm39) R22L possibly damaging Het
Ddx6 T G 9: 44,538,960 (GRCm39) F256C probably damaging Het
Diras1 C T 10: 80,857,895 (GRCm39) V119M probably damaging Het
Ect2l T A 10: 18,017,712 (GRCm39) D681V possibly damaging Het
Eme1 G T 11: 94,541,645 (GRCm39) P59Q probably damaging Het
Farp1 G C 14: 121,495,359 (GRCm39) E605Q probably damaging Het
Frem1 G T 4: 82,877,614 (GRCm39) T1321K probably benign Het
Gcn1 T A 5: 115,753,627 (GRCm39) L2326Q probably damaging Het
Gpld1 T A 13: 25,146,758 (GRCm39) V240E probably damaging Het
Gpr4 C A 7: 18,956,340 (GRCm39) H87Q probably damaging Het
Ifi213 A T 1: 173,394,784 (GRCm39) S584T probably benign Het
Il36b C T 2: 24,048,826 (GRCm39) T77M possibly damaging Het
Inf2 A G 12: 112,576,118 (GRCm39) E865G unknown Het
Klk1b1 T C 7: 43,620,669 (GRCm39) I253T probably damaging Het
Lcmt1 G T 7: 122,969,030 (GRCm39) M8I unknown Het
Mrs2 T A 13: 25,202,549 (GRCm39) D64V possibly damaging Het
Ms4a20 A G 19: 11,079,224 (GRCm39) I148T probably benign Het
Muc4 A G 16: 32,589,108 (GRCm39) Y755C Het
Ncoa3 T A 2: 165,907,688 (GRCm39) L1099* probably null Het
Nlrp6 T C 7: 140,507,353 (GRCm39) V873A possibly damaging Het
Nup155 C T 15: 8,145,926 (GRCm39) P159L possibly damaging Het
Or10v1 A T 19: 11,873,898 (GRCm39) H171L probably benign Het
Or1ak2 A T 2: 36,827,630 (GRCm39) L166F probably damaging Het
Or4m1 A T 14: 50,557,573 (GRCm39) S240T probably damaging Het
Pex5 A G 6: 124,380,860 (GRCm39) S255P probably damaging Het
Pex5 T C 6: 124,390,977 (GRCm39) T58A probably benign Het
Phip T G 9: 82,772,203 (GRCm39) M1115L probably benign Het
Ppl T G 16: 4,920,166 (GRCm39) S410R probably benign Het
Ppp1r17 G A 6: 55,999,441 (GRCm39) D25N probably damaging Het
Pramel51 T C 12: 88,142,769 (GRCm39) E478G probably damaging Het
Prox2 T A 12: 85,134,815 (GRCm39) I489F probably damaging Het
Ptprb C G 10: 116,205,333 (GRCm39) P1896A probably benign Het
Rgl2 T C 17: 34,154,799 (GRCm39) L601P possibly damaging Het
Sash1 C T 10: 8,656,328 (GRCm39) W221* probably null Het
Skint1 A C 4: 111,876,399 (GRCm39) T107P probably damaging Het
Slc41a2 A G 10: 83,091,905 (GRCm39) S453P possibly damaging Het
Sox11 A T 12: 27,391,439 (GRCm39) N323K probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tmco5 T C 2: 116,722,743 (GRCm39) F288S probably damaging Het
Traj16 T C 14: 54,440,645 (GRCm39) Y19H unknown Het
Trip11 A G 12: 101,853,233 (GRCm39) V454A probably benign Het
Tsg101 G T 7: 46,563,183 (GRCm39) Q24K probably benign Het
Ttn T C 2: 76,555,370 (GRCm39) E30545G probably damaging Het
Unkl T C 17: 25,437,627 (GRCm39) S200P probably damaging Het
Vwa2 T A 19: 56,897,672 (GRCm39) I659N probably damaging Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Zfp592 T G 7: 80,674,469 (GRCm39) S478A probably benign Het
Zfp664 A T 5: 124,962,839 (GRCm39) K78* probably null Het
Zfp738 A T 13: 67,821,110 (GRCm39) L79* probably null Het
Zfyve28 C T 5: 34,382,326 (GRCm39) R258Q 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
R2320:Thbd UTSW 2 148,248,566 (GRCm39) missense probably damaging 1.00
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
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'- TTGCAGAACATTTCGCACTTGTG -3'
(R):5'- ATGAACCCAGATGCCTCTGC -3'

Sequencing Primer
(F):5'- AGCGCAGATGCATCGGTAGTC -3'
(R):5'- TCTGCCCCAGAGACATGGAC -3'
Posted On 2019-11-26