Incidental Mutation 'R4839:Thbd'
ID 371606
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 # R4839 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 148246391-148250108 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 148248591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 426 (C426S)
Ref Sequence ENSEMBL: ENSMUSP00000096877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099270]
AlphaFold P15306
Predicted Effect probably damaging
Transcript: ENSMUST00000099270
AA Change: C426S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: C426S

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,845 (GRCm39) S467T probably benign Het
2310030G06Rik A T 9: 50,652,023 (GRCm39) Y68* probably null Het
Abat T G 16: 8,401,512 (GRCm39) probably benign Het
Abca2 C T 2: 25,330,921 (GRCm39) S1203F probably damaging Het
Adam22 G A 5: 8,186,813 (GRCm39) P436L probably damaging Het
Ak3 A C 19: 29,025,132 (GRCm39) L33R probably damaging Het
Arhgap11a A T 2: 113,672,374 (GRCm39) I198K probably damaging Het
Arl14epl A T 18: 47,065,544 (GRCm39) K103M possibly damaging Het
Atg16l1 T A 1: 87,693,896 (GRCm39) N65K probably damaging Het
Btnl2 G A 17: 34,584,260 (GRCm39) W394* probably null Het
Cacna1e C A 1: 154,296,804 (GRCm39) R1687L probably damaging Het
Cacna1g G T 11: 94,350,433 (GRCm39) R471S probably benign Het
Cdh13 A T 8: 119,578,587 (GRCm39) R205* probably null Het
Cdkl3 A T 11: 51,895,861 (GRCm39) Y36F probably damaging Het
Cep290 T A 10: 100,344,648 (GRCm39) N488K probably damaging Het
Cep350 A T 1: 155,804,240 (GRCm39) C948S probably benign Het
Cep70 A G 9: 99,178,138 (GRCm39) K446R probably benign Het
Cfap70 T C 14: 20,475,597 (GRCm39) T375A probably damaging Het
Cfhr1 A G 1: 139,487,871 (GRCm39) L9S probably damaging Het
Chrm4 T A 2: 91,757,952 (GRCm39) M120K probably damaging Het
Col1a1 A G 11: 94,840,921 (GRCm39) probably null Het
Col3a1 T C 1: 45,362,963 (GRCm39) probably null Het
Csrnp3 A T 2: 65,852,375 (GRCm39) R256* probably null Het
Dbf4 T A 5: 8,458,263 (GRCm39) K190* probably null Het
Dnah10 A T 5: 124,850,196 (GRCm39) I1573F probably damaging Het
Dock8 A G 19: 25,146,858 (GRCm39) I1446V probably benign Het
Dst G T 1: 34,229,943 (GRCm39) R2187M probably damaging Het
Ece2 C T 16: 20,449,918 (GRCm39) R257C probably damaging Het
Espn A G 4: 152,222,961 (GRCm39) Y306H probably damaging Het
Fkbpl G A 17: 34,864,839 (GRCm39) M202I probably benign Het
Fn1 A G 1: 71,681,242 (GRCm39) L362P probably damaging Het
Ganc A C 2: 120,290,304 (GRCm39) R880S probably benign Het
Gucy1b2 A T 14: 62,685,695 (GRCm39) L90Q probably damaging Het
Hcn1 T A 13: 118,062,246 (GRCm39) I504N unknown Het
Hdac2 C A 10: 36,873,462 (GRCm39) T352K probably benign Het
Hip1 T C 5: 135,455,172 (GRCm39) probably null Het
Hspa13 G A 16: 75,562,169 (GRCm39) S10L probably damaging Het
Ipo5 T C 14: 121,157,450 (GRCm39) I96T probably benign Het
Isl1 T C 13: 116,438,220 (GRCm39) Y264C probably damaging Het
Izumo1 T C 7: 45,275,657 (GRCm39) I322T probably benign Het
Kars1 A C 8: 112,729,158 (GRCm39) V183G possibly damaging Het
Lrrc15 C A 16: 30,093,086 (GRCm39) M84I probably benign Het
Magi1 A T 6: 93,671,177 (GRCm39) V796E probably damaging Het
Matn4 G T 2: 164,242,896 (GRCm39) D67E probably benign Het
Mertk A G 2: 128,624,496 (GRCm39) M636V probably damaging Het
Mettl27 C A 5: 134,963,266 (GRCm39) P126T probably damaging Het
Mfrp T A 9: 44,013,432 (GRCm39) H52Q possibly damaging Het
Mrgprb8 T G 7: 48,038,656 (GRCm39) I109R probably benign Het
Mroh2a G A 1: 88,165,666 (GRCm39) G512S probably damaging Het
Ncoa7 T A 10: 30,598,655 (GRCm39) R89S possibly damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nin G T 12: 70,137,325 (GRCm39) H84N possibly damaging Het
Nwd2 A T 5: 63,962,893 (GRCm39) I826F possibly damaging Het
Or10d1 A G 9: 39,484,441 (GRCm39) M38T probably benign Het
Or14c43 T C 7: 86,115,117 (GRCm39) F166S probably damaging Het
Or1j11 G A 2: 36,312,012 (GRCm39) V201I probably benign Het
Or4l15 C T 14: 50,197,646 (GRCm39) M294I probably benign Het
Or52a5b T C 7: 103,416,961 (GRCm39) I214M possibly damaging Het
Or5k3 A G 16: 58,969,393 (GRCm39) Y60C probably damaging Het
Or5p73 T C 7: 108,064,938 (GRCm39) S136P probably benign Het
Otof C T 5: 30,576,748 (GRCm39) R168H probably damaging Het
Pcdha6 T C 18: 37,101,485 (GRCm39) V226A possibly damaging Het
Pggt1b T C 18: 46,391,166 (GRCm39) I200V possibly damaging Het
Ppat G A 5: 77,098,811 (GRCm39) Q41* probably null Het
Ppfibp2 A T 7: 107,342,192 (GRCm39) H27L probably damaging Het
Rbm27 T A 18: 42,460,510 (GRCm39) I775N probably damaging Het
Rnf40 C T 7: 127,191,812 (GRCm39) R349* probably null Het
Rtp3 A T 9: 110,818,544 (GRCm39) W46R probably damaging Het
Sass6 C T 3: 116,403,949 (GRCm39) R196W probably damaging Het
Sel1l A T 12: 91,799,932 (GRCm39) D131E probably benign Het
Slain2 T C 5: 73,106,066 (GRCm39) S234P probably damaging Het
Slc47a1 C T 11: 61,264,176 (GRCm39) probably null Het
Sp140 CAGAAGAAG CAGAAG 1: 85,538,529 (GRCm39) probably benign Het
Spata31e2 T C 1: 26,724,440 (GRCm39) T247A probably benign Het
Spef2 A T 15: 9,713,264 (GRCm39) Y369* probably null Het
Spred2 T A 11: 19,948,233 (GRCm39) M76K possibly damaging Het
Svs5 T A 2: 164,078,806 (GRCm39) D367V probably benign Het
Tasor2 G A 13: 3,634,807 (GRCm39) P667S probably damaging Het
Tefm A T 11: 80,027,947 (GRCm39) D270E probably benign Het
Tfcp2l1 C A 1: 118,597,194 (GRCm39) P425H probably benign Het
Timm10b T A 7: 105,333,219 (GRCm39) D968E probably damaging Het
Tle2 C T 10: 81,413,518 (GRCm39) T119I probably damaging Het
Tnik T A 3: 28,650,224 (GRCm39) Y446N possibly damaging Het
Tpr T A 1: 150,324,948 (GRCm39) L2400* probably null Het
Trrap T C 5: 144,782,402 (GRCm39) F3328S probably damaging Het
Vldlr G A 19: 27,215,465 (GRCm39) C154Y probably damaging Het
Vmn1r79 T G 7: 11,910,361 (GRCm39) M81R probably benign Het
Vps13d T C 4: 144,812,000 (GRCm39) T3305A possibly damaging Het
Wdr62 T C 7: 29,970,111 (GRCm39) E232G probably damaging Het
Wdr62 T A 7: 29,940,890 (GRCm39) I843F probably benign Het
Zfp747l1 T C 7: 126,984,179 (GRCm39) S308G probably benign Het
Zfp873 T A 10: 81,896,353 (GRCm39) H361Q probably damaging Het
Zfp949 A C 9: 88,452,047 (GRCm39) H539P 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
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'- GATGGGGTCACAGTCTTTGC -3'
(R):5'- GAATGCTTCTGCTATGATGGCTATG -3'

Sequencing Primer
(F):5'- TGCTAATCTGACCAGCAAGG -3'
(R):5'- AGCTTCTGGATCCGTGTTTC -3'
Posted On 2016-03-01