Incidental Mutation 'R1628:Tbxa2r'
ID 258030
Institutional Source Beutler Lab
Gene Symbol Tbxa2r
Ensembl Gene ENSMUSG00000034881
Gene Name thromboxane A2 receptor
Synonyms TP, Tp receptor
MMRRC Submission 039665-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R1628 (G1)
Quality Score 47
Status Validated
Chromosome 10
Chromosomal Location 81164565-81171006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81170341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 276 (S276P)
Ref Sequence ENSEMBL: ENSMUSP00000151447 (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 possibly damaging
Transcript: ENSMUST00000105325
AA Change: S276P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100962
Gene: ENSMUSG00000034881
AA Change: S276P

DomainStartEndE-ValueType
Pfam:7tm_1 41 305 2.1e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220312
AA Change: S276P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 99% (75/76)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C T 17: 84,999,419 (GRCm39) Q172* probably null Het
AI467606 G A 7: 126,691,755 (GRCm39) G110D probably benign Het
Arhgef15 A C 11: 68,835,640 (GRCm39) L805R possibly damaging Het
B3galnt1 G A 3: 69,482,961 (GRCm39) T100I probably damaging Het
Bod1l T A 5: 41,974,325 (GRCm39) M2330L probably benign Het
Calcr A T 6: 3,700,251 (GRCm39) H280Q possibly damaging Het
Camk1d T C 2: 5,315,848 (GRCm39) D263G probably damaging Het
Cd48 T A 1: 171,532,420 (GRCm39) I233N probably damaging Het
Cyp3a25 A T 5: 145,938,273 (GRCm39) Y68* probably null Het
Dapk3 C A 10: 81,027,643 (GRCm39) T227K possibly damaging Het
Dnajc22 A G 15: 98,998,817 (GRCm39) M1V probably null Het
Etv5 C T 16: 22,220,421 (GRCm39) probably null Het
Gabrr1 A G 4: 33,152,432 (GRCm39) Y124C probably damaging Het
Gba2 C T 4: 43,570,118 (GRCm39) R392Q probably benign Het
Gli3 C G 13: 15,900,897 (GRCm39) A1428G probably benign Het
Gls G A 1: 52,271,835 (GRCm39) A106V probably benign Het
Gm21370 A G 13: 120,488,414 (GRCm39) V45A possibly damaging Het
Gpr4 A G 7: 18,957,124 (GRCm39) T349A probably benign Het
Gpr6 C T 10: 40,947,544 (GRCm39) V13M possibly damaging Het
Gvin3 A T 7: 106,202,476 (GRCm39) L256* probably null Het
Hectd3 A G 4: 116,854,589 (GRCm39) H345R probably damaging Het
Igfl3 A T 7: 17,914,232 (GRCm39) K135N probably benign Het
Il23r A G 6: 67,400,593 (GRCm39) L579S probably damaging Het
Itsn2 A C 12: 4,679,652 (GRCm39) M154L probably benign Het
Junb T A 8: 85,705,039 (GRCm39) Q7L possibly damaging Het
Kif21b T A 1: 136,098,958 (GRCm39) H1415Q probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhdc10 T G 6: 30,444,461 (GRCm39) F79L probably damaging Het
Klk1b8 A G 7: 43,603,565 (GRCm39) probably null Het
Lmbrd2 T A 15: 9,182,593 (GRCm39) N509K probably damaging Het
Mctp2 A G 7: 71,861,337 (GRCm39) probably null Het
Myo3b A G 2: 70,117,306 (GRCm39) N913S probably benign Het
N4bp2 G A 5: 65,960,915 (GRCm39) probably null Het
Nt5c1a A G 4: 123,102,284 (GRCm39) E70G possibly damaging Het
Or12k5 A G 2: 36,894,738 (GRCm39) V296A probably damaging Het
Papln A G 12: 83,831,180 (GRCm39) probably benign Het
Pcnx3 G T 19: 5,736,093 (GRCm39) S244R probably damaging Het
Pecam1 A T 11: 106,573,786 (GRCm39) probably null Het
Plppr4 A T 3: 117,121,921 (GRCm39) L219Q probably damaging Het
Ppp2r5b A G 19: 6,280,935 (GRCm39) probably null Het
Ralgapb A G 2: 158,272,383 (GRCm39) R146G probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rfpl4b T G 10: 38,697,530 (GRCm39) I24L probably benign Het
Serpinb1b G A 13: 33,277,637 (GRCm39) C290Y probably benign Het
Skic3 A G 13: 76,259,910 (GRCm39) E70G possibly damaging Het
Slc25a17 A G 15: 81,244,925 (GRCm39) S3P possibly damaging Het
Slc4a11 A C 2: 130,529,047 (GRCm39) probably null Het
Spata31e4 T C 13: 50,856,324 (GRCm39) L654P probably benign Het
Sptb A G 12: 76,630,622 (GRCm39) Y2231H probably damaging Het
Srgap1 T G 10: 121,706,244 (GRCm39) M221L probably benign Het
Srgap3 A G 6: 112,716,331 (GRCm39) L599P probably damaging Het
Svep1 C T 4: 58,107,561 (GRCm39) V1177M probably benign Het
Tarbp1 A G 8: 127,157,599 (GRCm39) F1303L possibly damaging Het
Try10 A T 6: 41,334,390 (GRCm39) D194V probably damaging Het
Ttc39c T C 18: 12,867,936 (GRCm39) probably benign Het
Ttc8 G A 12: 98,948,780 (GRCm39) V489M probably benign Het
Unc13b G T 4: 43,263,371 (GRCm39) R1912L probably damaging Het
Unc45b T A 11: 82,820,206 (GRCm39) probably null Het
Usp17lb T C 7: 104,490,048 (GRCm39) Y292C probably damaging Het
Usp34 A G 11: 23,438,725 (GRCm39) D3429G probably damaging Het
Usp42 A G 5: 143,703,122 (GRCm39) S500P probably damaging Het
Vmn2r14 T C 5: 109,367,838 (GRCm39) M385V probably benign Het
Vmn2r60 G A 7: 41,785,830 (GRCm39) W211* probably null Het
Vwf A T 6: 125,624,701 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,681,918 (GRCm39) F3018I probably damaging Het
Wwox A G 8: 115,174,973 (GRCm39) T102A probably benign Het
Zfp142 A C 1: 74,611,047 (GRCm39) L813R possibly damaging Het
Zfp407 G A 18: 84,372,658 (GRCm39) T1670M probably damaging Het
Zfp93 A G 7: 23,974,282 (GRCm39) E89G probably benign Het
Zwint C T 10: 72,492,127 (GRCm39) Q18* probably null 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
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
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'- ACCTCAGTCCAAGTAGGACGTGATG -3'
(R):5'- ACAGGTCAATGGCAGTCACCAAG -3'

Sequencing Primer
(F):5'- TCCAGGGTCACACAGTACAA -3'
(R):5'- AAGTGGCACTGTCCTTCAG -3'
Posted On 2015-01-16