Incidental Mutation 'R9359:Tbxa2r'
ID 708586
Institutional Source Beutler Lab
Gene Symbol Tbxa2r
Ensembl Gene ENSMUSG00000034881
Gene Name thromboxane A2 receptor
Synonyms TP, Tp receptor
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R9359 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 81164565-81171006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81168958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 216 (S216G)
Ref Sequence ENSEMBL: ENSMUSP00000100962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045102] [ENSMUST00000105325] [ENSMUST00000220312]
AlphaFold P30987
Predicted Effect probably benign
Transcript: ENSMUST00000045102
SMART Domains Protein: ENSMUSP00000049236
Gene: ENSMUSG00000034872

DomainStartEndE-ValueType
low complexity region 94 104 N/A INTRINSIC
PDZ 105 179 1.19e-7 SMART
low complexity region 224 237 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105325
AA Change: S216G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100962
Gene: ENSMUSG00000034881
AA Change: S216G

DomainStartEndE-ValueType
Pfam:7tm_1 41 305 2.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220312
AA Change: S216G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3334 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: This gene encodes a multi-pass membrane protein that functions as a G-protein coupled receptor. The encoded protein binds thromboxane A2, resulting in the aggregation of platelets and constriction of blood vessels. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for a null allele show prolonged bleeding, and altered platelet aggregation and vascular responses to TXA2, arachidonic acid and injury. Homozygotes for another null allele show splenomegaly, reduced DC-T cell adhesion, enhanced contact hypersensitivity, and cervical lymphadenopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,780,892 (GRCm39) T380M probably damaging Het
Ankrd50 A T 3: 38,537,172 (GRCm39) N60K probably damaging Het
Atp6v0a4 G A 6: 38,059,048 (GRCm39) T245I probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Cyp2j13 T C 4: 95,950,170 (GRCm39) D277G probably damaging Het
Def8 A T 8: 124,185,105 (GRCm39) I310F probably benign Het
Dmtf1 A G 5: 9,171,927 (GRCm39) L503S possibly damaging Het
Dock1 T C 7: 134,770,125 (GRCm39) V1795A probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gabbr1 A G 17: 37,381,605 (GRCm39) T790A probably damaging Het
Glg1 C T 8: 111,914,425 (GRCm39) R453Q probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpld1 G A 13: 25,163,712 (GRCm39) V502I probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Inhba A G 13: 16,191,966 (GRCm39) H29R probably benign Het
Insr G C 8: 3,208,717 (GRCm39) P1248R probably damaging Het
Ipcef1 C T 10: 6,840,663 (GRCm39) D349N probably damaging Het
Itga4 T A 2: 79,156,004 (GRCm39) I990N possibly damaging Het
Malrd1 T C 2: 15,618,988 (GRCm39) V284A Het
Maml2 C T 9: 13,532,969 (GRCm39) Q728* probably null Het
Mex3d A T 10: 80,217,581 (GRCm39) N545K Het
Mios T A 6: 8,214,894 (GRCm39) V30E probably benign Het
Muc16 A G 9: 18,449,060 (GRCm39) probably null Het
Naxd A G 8: 11,562,968 (GRCm39) K303E possibly damaging Het
Or2w1 T C 13: 21,317,865 (GRCm39) F307L probably benign Het
Or4l1 T C 14: 50,166,906 (GRCm39) T32A probably benign Het
Or5a21 T A 19: 12,310,803 (GRCm39) H139L possibly damaging Het
Or9q2 C T 19: 13,772,200 (GRCm39) M258I probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Ptgdr A G 14: 45,090,715 (GRCm39) S348P Het
Ptpdc1 T A 13: 48,740,030 (GRCm39) E467V probably benign Het
Qsox1 A G 1: 155,658,343 (GRCm39) S409P probably damaging Het
Rfx4 A G 10: 84,740,921 (GRCm39) T680A probably benign Het
Slc30a5 T C 13: 100,949,970 (GRCm39) T371A probably damaging Het
Slc5a7 A T 17: 54,583,669 (GRCm39) N540K probably benign Het
Slco6c1 A T 1: 96,990,248 (GRCm39) S664R possibly damaging Het
Tgm4 C A 9: 122,881,837 (GRCm39) S344R probably damaging Het
Thoc6 A G 17: 23,887,823 (GRCm39) V328A possibly damaging Het
Trim61 T A 8: 65,467,228 (GRCm39) Q11L probably damaging Het
Txndc2 G A 17: 65,944,992 (GRCm39) T395I probably damaging Het
Txndc9 T C 1: 38,034,859 (GRCm39) E15G probably benign Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Uspl1 G A 5: 149,146,481 (GRCm39) V411M probably damaging Het
Vcpip1 A G 1: 9,816,049 (GRCm39) I778T possibly damaging Het
Vps54 A G 11: 21,242,108 (GRCm39) T408A probably benign Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P possibly damaging Het
Other mutations in Tbxa2r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Tbxa2r APN 10 81,170,320 (GRCm39) missense probably benign 0.13
R0225:Tbxa2r UTSW 10 81,168,734 (GRCm39) missense possibly damaging 0.79
R1628:Tbxa2r UTSW 10 81,170,341 (GRCm39) missense possibly damaging 0.86
R2225:Tbxa2r UTSW 10 81,168,983 (GRCm39) missense probably benign 0.02
R4441:Tbxa2r UTSW 10 81,168,925 (GRCm39) missense probably damaging 1.00
R5771:Tbxa2r UTSW 10 81,168,775 (GRCm39) missense probably damaging 1.00
R7401:Tbxa2r UTSW 10 81,168,625 (GRCm39) missense probably benign
R7791:Tbxa2r UTSW 10 81,170,540 (GRCm39) makesense probably null
R9720:Tbxa2r UTSW 10 81,169,018 (GRCm39) missense probably benign 0.00
Z1088:Tbxa2r UTSW 10 81,169,049 (GRCm39) missense probably damaging 0.99
Z1177:Tbxa2r UTSW 10 81,168,679 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AACACGCTGCCTTGTTGGAC -3'
(R):5'- GAAGGTCCTCATGTTGCTGG -3'

Sequencing Primer
(F):5'- TTCGTGGGCATCACACG -3'
(R):5'- ACCATGATGCCCACGAG -3'
Posted On 2022-04-18