Incidental Mutation 'R9720:Tbxa2r'
ID 730730
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 # R9720 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 81164565-81171006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81169018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 236 (C236S)
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 benign
Transcript: ENSMUST00000105325
AA Change: C236S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100962
Gene: ENSMUSG00000034881
AA Change: C236S

DomainStartEndE-ValueType
Pfam:7tm_1 41 305 2.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220312
AA Change: C236S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,154,183 (GRCm39) V968G probably damaging Het
Adam33 A G 2: 130,900,236 (GRCm39) V110A Het
Adamts2 T C 11: 50,666,954 (GRCm39) M417T probably damaging Het
Adgrv1 A G 13: 81,740,693 (GRCm39) I145T probably damaging Het
Ampd3 C A 7: 110,377,056 (GRCm39) H16N probably benign Het
Ank3 A T 10: 69,825,335 (GRCm39) S1335C Het
Ankrd26 G A 6: 118,498,902 (GRCm39) S1208L probably damaging Het
Atmin G A 8: 117,681,653 (GRCm39) probably null Het
AU018091 T C 7: 3,209,272 (GRCm39) T323A probably benign Het
Barx2 A G 9: 31,765,407 (GRCm39) probably null Het
Bltp3b T A 10: 89,641,219 (GRCm39) S797T probably benign Het
Brpf3 A G 17: 29,026,330 (GRCm39) I468V probably benign Het
Cacna1g T A 11: 94,302,297 (GRCm39) H1985L probably benign Het
Cass4 T C 2: 172,269,568 (GRCm39) V550A probably benign Het
Ccdc88a A G 11: 29,413,813 (GRCm39) S784G probably benign Het
Cd300ld2 C T 11: 114,903,118 (GRCm39) probably null Het
Cgn G A 3: 94,686,621 (GRCm39) A227V probably benign Het
Clcn7 G T 17: 25,374,471 (GRCm39) R524L probably damaging Het
Cldn22 G A 8: 48,277,786 (GRCm39) A75T probably benign Het
Ddb1 A G 19: 10,585,724 (GRCm39) D146G probably benign Het
Dhx32 C A 7: 133,324,857 (GRCm39) E607* probably null Het
Egfem1 A G 3: 29,716,580 (GRCm39) Y350C probably damaging Het
Eri2 T A 7: 119,386,976 (GRCm39) D181V probably damaging Het
Gabrg2 T C 11: 41,862,673 (GRCm39) N137S probably damaging Het
Gar1 C T 3: 129,620,497 (GRCm39) G197S unknown Het
Ggta1 G T 2: 35,303,418 (GRCm39) D91E probably benign Het
Hap1 T A 11: 100,246,696 (GRCm39) I70F probably benign Het
Hars2 A G 18: 36,920,607 (GRCm39) Y150C probably damaging Het
Igsf9b G A 9: 27,220,810 (GRCm39) V59I probably damaging Het
Il15 T G 8: 83,058,608 (GRCm39) K142Q probably damaging Het
Klhl23 T C 2: 69,654,804 (GRCm39) Y225H possibly damaging Het
Krt6b T A 15: 101,588,226 (GRCm39) I145F probably benign Het
Lgals3bp T A 11: 118,284,083 (GRCm39) T499S probably benign Het
Lrriq4 A G 3: 30,714,077 (GRCm39) N490S probably damaging Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Mical3 A G 6: 120,935,238 (GRCm39) S1763P probably damaging Het
Ncoa6 A G 2: 155,250,304 (GRCm39) V1000A probably damaging Het
Nefm A G 14: 68,358,793 (GRCm39) S414P probably benign Het
Nphs1 T C 7: 30,165,499 (GRCm39) V622A possibly damaging Het
Or6c76 T C 10: 129,612,581 (GRCm39) V281A probably benign Het
Or6d14 T C 6: 116,534,016 (GRCm39) V210A possibly damaging Het
Pde4dip T C 3: 97,603,287 (GRCm39) D2234G probably damaging Het
Pde6c A T 19: 38,157,887 (GRCm39) Y637F probably benign Het
Pigg T A 5: 108,467,800 (GRCm39) C266* probably null Het
Pkdrej A T 15: 85,702,497 (GRCm39) D1146E possibly damaging Het
Pkp2 T C 16: 16,087,584 (GRCm39) V756A probably benign Het
Pole C T 5: 110,484,909 (GRCm39) T2245I probably benign Het
Ppm1g A C 5: 31,360,914 (GRCm39) probably null Het
Ppp1r36 A G 12: 76,485,298 (GRCm39) I340M possibly damaging Het
Pvr G A 7: 19,643,121 (GRCm39) R371* probably null Het
Rassf9 G A 10: 102,348,369 (GRCm39) probably benign Het
Rtl1 A C 12: 109,559,882 (GRCm39) N652K possibly damaging Het
Sall4 G C 2: 168,592,160 (GRCm39) S998C probably damaging Het
Sdk1 T C 5: 142,197,796 (GRCm39) Y2150H probably damaging Het
Serpinb3b A T 1: 107,083,669 (GRCm39) I170K probably benign Het
Shank2 A T 7: 143,682,137 (GRCm39) D390V probably damaging Het
Slc39a4 A G 15: 76,500,930 (GRCm39) V11A probably benign Het
Synj2 C T 17: 6,040,584 (GRCm39) T220I probably benign Het
Taar7a A G 10: 23,868,733 (GRCm39) I216T probably benign Het
Tas2r122 G T 6: 132,688,634 (GRCm39) D86E probably benign Het
Trav13d-4 C A 14: 53,995,286 (GRCm39) T80K probably benign Het
Trav6d-5 T A 14: 53,033,077 (GRCm39) C109S probably damaging Het
Trio A G 15: 27,847,495 (GRCm39) M982T probably benign Het
Unc80 A T 1: 66,683,485 (GRCm39) T2176S possibly damaging Het
Ypel1 T C 16: 16,910,890 (GRCm39) T259A probably damaging Het
Zfp120 A T 2: 149,959,197 (GRCm39) I397K probably benign 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
R9359:Tbxa2r UTSW 10 81,168,958 (GRCm39) missense probably damaging 1.00
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'- TTGGTGCTTCCTGACACTCG -3'
(R):5'- GCCAGGGAACACAGCAATATTG -3'

Sequencing Primer
(F):5'- TGACACTCGGGACACAGC -3'
(R):5'- ACATTGTCTAGCAGGTGAACTCC -3'
Posted On 2022-10-06