Incidental Mutation 'R4441:Tbxa2r'
ID 329774
Institutional Source Beutler Lab
Gene Symbol Tbxa2r
Ensembl Gene ENSMUSG00000034881
Gene Name thromboxane A2 receptor
Synonyms TP, Tp receptor
MMRRC Submission 041706-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.760) question?
Stock # R4441 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 81164565-81171006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81168925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 205 (S205P)
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 probably damaging
Transcript: ENSMUST00000105325
AA Change: S205P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100962
Gene: ENSMUSG00000034881
AA Change: S205P

DomainStartEndE-ValueType
Pfam:7tm_1 41 305 2.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220312
AA Change: S205P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3350 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (53/55)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,127,024 (GRCm39) R1238S probably benign Het
Ankmy1 A T 1: 92,816,383 (GRCm39) Y244N possibly damaging Het
Asxl3 C T 18: 22,657,290 (GRCm39) P1767S probably damaging Het
C1qtnf7 A T 5: 43,766,612 (GRCm39) K70N possibly damaging Het
Cibar1 A G 4: 12,157,733 (GRCm39) M261T probably damaging Het
Fam78b C A 1: 166,906,491 (GRCm39) Q217K probably damaging Het
Garem1 T C 18: 21,301,807 (GRCm39) T127A possibly damaging Het
Gls A T 1: 52,235,322 (GRCm39) probably null Het
Gm12790 A C 4: 101,825,337 (GRCm39) S26A probably damaging Het
Gm136 T C 4: 34,755,911 (GRCm39) D34G probably benign Het
Gmds A G 13: 32,124,461 (GRCm39) probably null Het
Hdac9 G T 12: 34,439,375 (GRCm39) H401N probably damaging Het
Hmcn1 T C 1: 150,533,210 (GRCm39) I3026V probably null Het
Igkv6-20 A T 6: 70,313,101 (GRCm39) M24K probably damaging Het
Ilf2 T C 3: 90,394,769 (GRCm39) L339P probably benign Het
Insr T A 8: 3,244,902 (GRCm39) K501N probably benign Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mcm5 T C 8: 75,839,172 (GRCm39) S142P probably benign Het
Mcpt9 A G 14: 56,265,009 (GRCm39) V164A probably damaging Het
Ncapd3 T A 9: 26,962,941 (GRCm39) D415E possibly damaging Het
Nfia T C 4: 97,661,150 (GRCm39) probably null Het
Nipbl G C 15: 8,396,142 (GRCm39) Q144E probably damaging Het
Or51g1 A T 7: 102,633,516 (GRCm39) V285E possibly damaging Het
Or51q1c T G 7: 103,653,279 (GRCm39) F266V probably damaging Het
Or6z5 T C 7: 6,477,924 (GRCm39) S272P probably benign Het
Pcdhgb8 A G 18: 37,896,114 (GRCm39) I395V possibly damaging Het
Plcz1 T A 6: 139,936,413 (GRCm39) L605F probably benign Het
Prph G A 15: 98,955,005 (GRCm39) S325N probably damaging Het
Ptpn23 A G 9: 110,221,793 (GRCm39) M131T probably benign Het
Rab3ip T G 10: 116,751,837 (GRCm39) D278A probably benign Het
Rasgrf2 T C 13: 92,131,797 (GRCm39) D620G possibly damaging Het
Rbm5 A G 9: 107,626,887 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,304,526 (GRCm39) probably null Het
Saxo5 C T 8: 3,526,105 (GRCm39) S86L probably damaging Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tespa1 C T 10: 130,197,826 (GRCm39) R283C probably damaging Het
Tle2 A G 10: 81,417,516 (GRCm39) E227G possibly damaging Het
Tnik A G 3: 28,618,246 (GRCm39) I266V possibly damaging Het
Tnn T G 1: 159,943,650 (GRCm39) E1054D probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm1 A G 7: 63,851,666 (GRCm39) D12G probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wdr7 T A 18: 63,888,281 (GRCm39) Y585N probably damaging Het
Zgrf1 T A 3: 127,379,786 (GRCm39) N223K 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
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'- AACACGCTGCCTTGTTGGAC -3'
(R):5'- GAAGGTCCTCATGTTGCTGG -3'

Sequencing Primer
(F):5'- TTCGTGGGCATCACACG -3'
(R):5'- CGTGGGGGAGGGGATGG -3'
Posted On 2015-07-21