Incidental Mutation 'R7401:Tbxa2r'
ID 574177
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? Possibly essential (E-score: 0.516) question?
Stock # R7401 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 81328731-81335172 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81332791 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 105 (Y105H)
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: Y105H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100962
Gene: ENSMUSG00000034881
AA Change: Y105H

DomainStartEndE-ValueType
Pfam:7tm_1 41 305 2.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220312
AA Change: Y105H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 17,118,404 L152Q probably benign Het
Abcg3 A T 5: 104,966,774 N292K probably damaging Het
Adamts3 T A 5: 89,707,450 probably null Het
Adgrg7 T C 16: 56,742,418 N519D probably benign Het
Adsl A G 15: 80,962,782 H263R probably damaging Het
Ak9 A T 10: 41,423,004 D1567V unknown Het
Bscl2 T C 19: 8,846,550 F280L possibly damaging Het
Cacna1b T A 2: 24,679,294 T873S probably benign Het
Cacna1c T C 6: 119,052,708 probably null Het
Cast G T 13: 74,808,458 A18E unknown Het
Ccdc114 A C 7: 45,942,765 Q323P probably damaging Het
Cd207 A C 6: 83,677,848 probably benign Het
Cd79b A G 11: 106,312,852 S130P probably benign Het
Cfap52 A T 11: 67,949,633 N157K probably benign Het
Cfap57 C T 4: 118,614,931 V84I probably benign Het
Chaf1b G T 16: 93,884,380 probably benign Het
Cntn1 A G 15: 92,317,989 I968V probably benign Het
Cntn5 C T 9: 9,833,461 V362I probably benign Het
Crem A G 18: 3,295,329 S80P probably damaging Het
Csnk1g3 C T 18: 53,930,318 T267I probably damaging Het
Cyth1 A T 11: 118,182,251 N274K possibly damaging Het
Dicer1 C T 12: 104,712,278 G594S probably benign Het
Enpp1 C T 10: 24,645,282 C849Y probably damaging Het
Fam193a A G 5: 34,465,635 E1189G possibly damaging Het
Fermt1 C A 2: 132,917,559 V426L probably benign Het
Fes A G 7: 80,378,776 probably null Het
Gm16486 T C 8: 70,717,272 I1337T probably benign Het
Gmeb1 C A 4: 132,225,774 L560F probably damaging Het
Hace1 T C 10: 45,670,626 L452P probably damaging Het
Hecw2 T A 1: 53,904,343 H975L probably damaging Het
Idh2 GGTCCCAG GG 7: 80,098,329 probably benign Het
Il1r2 T A 1: 40,123,210 C338S probably damaging Het
Kcnb1 T C 2: 167,188,284 S114G probably damaging Het
Lce1c A T 3: 92,680,316 T17S unknown Het
Lhfpl4 C A 6: 113,176,666 L141F possibly damaging Het
Ms4a14 T C 19: 11,302,230 E988G possibly damaging Het
Naip5 T C 13: 100,219,696 Q1137R probably benign Het
Naip5 G T 13: 100,219,697 Q1137K not run Het
Neurod1 T A 2: 79,454,946 D31V probably benign Het
Neurod4 A G 10: 130,271,058 C116R probably damaging Het
Nisch A G 14: 31,206,580 V28A probably benign Het
Olfr1174-ps T G 2: 88,311,428 M123L probably benign Het
Olfr1245 A G 2: 89,575,105 V207A probably benign Het
Pabpc4l A T 3: 46,446,252 I319N probably damaging Het
Pabpc4l T A 3: 46,446,589 R207W probably damaging Het
Pcm1 G A 8: 41,309,531 D1371N probably damaging Het
Peg10 G GGTC 6: 4,756,452 probably benign Het
Plxnc1 C T 10: 94,871,005 A557T probably benign Het
Prkdc T A 16: 15,648,738 V58D probably damaging Het
Prpf40a A G 2: 53,156,947 V259A probably benign Het
Psmd3 A T 11: 98,685,640 T123S probably benign Het
Ptgr2 G T 12: 84,292,329 probably benign Het
Ptprr A G 10: 116,048,236 H66R probably benign Het
Rftn2 A G 1: 55,194,242 probably null Het
Rsph14 T A 10: 75,029,796 E70V possibly damaging Het
Slc24a5 G A 2: 125,088,191 V471I probably benign Het
Sorbs1 G C 19: 40,376,800 R180G probably benign Het
Spag9 A T 11: 94,097,689 T862S probably benign Het
Ssbp2 T A 13: 91,690,883 D291E probably benign Het
Supt5 T C 7: 28,323,772 K329E probably damaging Het
Syne2 G T 12: 75,967,381 K3115N probably damaging Het
Tars A T 15: 11,392,009 L239* probably null Het
Tesk1 T A 4: 43,445,743 D265E probably damaging Het
Tril T C 6: 53,818,281 D652G possibly damaging Het
Tsga10 T C 1: 37,834,187 R204G probably null Het
Twnk A G 19: 45,011,780 D645G probably benign Het
Umodl1 A T 17: 30,998,148 D1118V probably damaging Het
Unc119 T C 11: 78,347,245 I83T probably benign Het
Unc80 T C 1: 66,646,415 W2233R possibly damaging Het
Vmn1r45 T A 6: 89,933,434 T185S possibly damaging Het
Vmn2r111 G T 17: 22,571,086 T313K possibly damaging Het
Wdr4 A G 17: 31,509,832 L123S probably damaging Het
Zfpm2 A G 15: 41,102,990 E957G possibly damaging Het
Other mutations in Tbxa2r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Tbxa2r APN 10 81334486 missense probably benign 0.13
R0225:Tbxa2r UTSW 10 81332900 missense possibly damaging 0.79
R1628:Tbxa2r UTSW 10 81334507 missense possibly damaging 0.86
R2225:Tbxa2r UTSW 10 81333149 missense probably benign 0.02
R4441:Tbxa2r UTSW 10 81333091 missense probably damaging 1.00
R5771:Tbxa2r UTSW 10 81332941 missense probably damaging 1.00
R7791:Tbxa2r UTSW 10 81334706 makesense probably null
R9359:Tbxa2r UTSW 10 81333124 missense probably damaging 1.00
R9720:Tbxa2r UTSW 10 81333184 missense probably benign 0.00
Z1088:Tbxa2r UTSW 10 81333215 missense probably damaging 0.99
Z1177:Tbxa2r UTSW 10 81332845 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGAACATCACGCTGCAGGAG -3'
(R):5'- TGCGAATATGAGCCCGAAGAC -3'

Sequencing Primer
(F):5'- AACCTGCTGGCACTGAGTG -3'
(R):5'- TACTGCACACTGTAGCGGC -3'
Posted On 2019-09-13