Incidental Mutation 'R0333:Antxr1'
ID 38332
Institutional Source Beutler Lab
Gene Symbol Antxr1
Ensembl Gene ENSMUSG00000033420
Gene Name anthrax toxin receptor 1
Synonyms 2810405N18Rik, Tem8, 2310008J16Rik
MMRRC Submission 038542-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0333 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 87110835-87312757 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 87165820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000205033]
AlphaFold Q9CZ52
Predicted Effect probably benign
Transcript: ENSMUST00000042025
SMART Domains Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWA 40 218 8.08e-18 SMART
low complexity region 304 313 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
Pfam:Ant_C 394 486 5.9e-51 PFAM
low complexity region 501 561 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203131
Predicted Effect probably benign
Transcript: ENSMUST00000204805
SMART Domains Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWA 40 218 8.08e-18 SMART
low complexity region 304 313 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
Pfam:Ant_C 394 482 8.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205033
SMART Domains Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
VWA 40 218 5.2e-20 SMART
low complexity region 304 313 N/A INTRINSIC
transmembrane domain 319 341 N/A INTRINSIC
low complexity region 351 363 N/A INTRINSIC
Pfam:Ant_C 394 485 3.9e-42 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null mutation display female infertility and malocclusion of the incisors. Mice homozygous for a different knock-out allele exhibit malocclusion of incisors and increased extracellular matrix deposition in several organs, includingthe ovaries and uterus, but normal fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas1 T C 9: 106,118,480 (GRCm39) N214S probably benign Het
Atxn7l3 A T 11: 102,185,818 (GRCm39) probably null Het
Cab39l A G 14: 59,737,060 (GRCm39) E60G probably damaging Het
Cdc5l G T 17: 45,704,142 (GRCm39) probably benign Het
Cux2 T C 5: 121,998,671 (GRCm39) E1423G probably benign Het
Dbndd1 G T 8: 124,233,512 (GRCm39) Q165K probably damaging Het
Drd1 C A 13: 54,208,082 (GRCm39) C37F probably damaging Het
Elp3 G A 14: 65,828,042 (GRCm39) P11L probably benign Het
F830045P16Rik A G 2: 129,314,777 (GRCm39) Y167H probably damaging Het
Gimap3 G A 6: 48,742,664 (GRCm39) Q89* probably null Het
H2ac25 C A 11: 58,845,685 (GRCm39) S41* probably null Het
Herc1 G A 9: 66,371,981 (GRCm39) probably null Het
Ipo11 A G 13: 107,007,271 (GRCm39) V603A probably benign Het
Kifap3 G A 1: 163,624,833 (GRCm39) A130T probably damaging Het
Klhl23 A G 2: 69,664,241 (GRCm39) Y530C probably damaging Het
Map4k1 C T 7: 28,699,186 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,600 (GRCm39) L778M probably damaging Het
Mtdh T C 15: 34,118,247 (GRCm39) S344P possibly damaging Het
Ncoa3 T G 2: 165,896,211 (GRCm39) N371K probably damaging Het
Ncor2 C A 5: 125,111,408 (GRCm39) probably benign Het
Nrn1l A G 8: 106,621,052 (GRCm39) E48G probably benign Het
Nudcd1 A G 15: 44,264,683 (GRCm39) I271T probably benign Het
Or1e17 A T 11: 73,831,593 (GRCm39) I174F possibly damaging Het
Or2t1 T C 14: 14,328,498 (GRCm38) L129P probably damaging Het
Pard3b A G 1: 62,269,371 (GRCm39) N653S probably benign Het
Plekhg1 A C 10: 3,914,419 (GRCm39) K1380N probably damaging Het
Ppara T A 15: 85,675,161 (GRCm39) I210N probably damaging Het
Ppp2r5b A G 19: 6,279,077 (GRCm39) probably benign Het
Prkn T C 17: 11,286,027 (GRCm39) F6L probably damaging Het
Prr14l A G 5: 32,985,337 (GRCm39) L1386P probably damaging Het
Ralgapa1 A G 12: 55,829,685 (GRCm39) probably benign Het
Reln A T 5: 22,134,240 (GRCm39) L2563I probably damaging Het
Rps7 A G 12: 28,681,200 (GRCm39) probably benign Het
Rslcan18 T C 13: 67,246,686 (GRCm39) K309E probably damaging Het
Sec14l5 C T 16: 4,984,930 (GRCm39) T92M probably damaging Het
Slc22a8 G A 19: 8,585,514 (GRCm39) probably benign Het
Smad2 G A 18: 76,395,692 (GRCm39) A44T probably damaging Het
Smcr8 T C 11: 60,671,048 (GRCm39) V732A possibly damaging Het
Spata2l A G 8: 123,960,371 (GRCm39) F306S probably damaging Het
Stab2 T C 10: 86,677,491 (GRCm39) D2552G probably benign Het
Tctn3 A T 19: 40,595,711 (GRCm39) L358H possibly damaging Het
Tk2 C T 8: 104,975,146 (GRCm39) probably benign Het
Tm6sf2 C T 8: 70,530,564 (GRCm39) R215C probably damaging Het
Tmbim6 T C 15: 99,304,555 (GRCm39) I204T probably damaging Het
Tubgcp2 C A 7: 139,579,260 (GRCm39) W675C probably damaging Het
Usp48 T A 4: 137,321,794 (GRCm39) I62N probably damaging Het
Vmn2r74 T C 7: 85,601,491 (GRCm39) T716A probably benign Het
Vps13b C A 15: 35,879,949 (GRCm39) T3008K probably damaging Het
Wnk1 G A 6: 119,905,124 (GRCm39) probably benign Het
Other mutations in Antxr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Antxr1 APN 6 87,265,784 (GRCm39) missense probably damaging 1.00
IGL02391:Antxr1 APN 6 87,264,038 (GRCm39) missense probably damaging 1.00
IGL02944:Antxr1 APN 6 87,165,141 (GRCm39) missense possibly damaging 0.93
IGL03278:Antxr1 APN 6 87,181,439 (GRCm39) splice site probably benign
slinky UTSW 6 87,263,982 (GRCm39) critical splice donor site probably null
slipnslide UTSW 6 87,261,291 (GRCm39) missense probably damaging 1.00
Stubby UTSW 6 87,194,255 (GRCm39) critical splice donor site probably null
E0374:Antxr1 UTSW 6 87,232,861 (GRCm39) missense probably benign 0.03
R0456:Antxr1 UTSW 6 87,194,257 (GRCm39) missense probably damaging 1.00
R0482:Antxr1 UTSW 6 87,246,220 (GRCm39) splice site probably null
R4612:Antxr1 UTSW 6 87,265,155 (GRCm39) missense probably damaging 1.00
R5269:Antxr1 UTSW 6 87,157,165 (GRCm39) missense probably damaging 1.00
R5610:Antxr1 UTSW 6 87,232,845 (GRCm39) missense probably damaging 1.00
R5671:Antxr1 UTSW 6 87,194,255 (GRCm39) critical splice donor site probably null
R5893:Antxr1 UTSW 6 87,114,241 (GRCm39) missense probably benign 0.00
R5925:Antxr1 UTSW 6 87,289,344 (GRCm39) missense probably damaging 1.00
R6038:Antxr1 UTSW 6 87,263,982 (GRCm39) critical splice donor site probably null
R6038:Antxr1 UTSW 6 87,263,982 (GRCm39) critical splice donor site probably null
R6658:Antxr1 UTSW 6 87,261,291 (GRCm39) missense probably damaging 1.00
R7634:Antxr1 UTSW 6 87,114,273 (GRCm39) missense probably benign 0.20
R8103:Antxr1 UTSW 6 87,165,198 (GRCm39) missense probably damaging 1.00
R8506:Antxr1 UTSW 6 87,165,155 (GRCm39) missense possibly damaging 0.77
R8756:Antxr1 UTSW 6 87,165,235 (GRCm39) missense probably damaging 1.00
R9183:Antxr1 UTSW 6 87,264,025 (GRCm39) missense probably damaging 1.00
R9296:Antxr1 UTSW 6 87,114,409 (GRCm39) intron probably benign
R9688:Antxr1 UTSW 6 87,114,334 (GRCm39) missense probably damaging 1.00
R9756:Antxr1 UTSW 6 87,217,936 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- CTCATCCAACTGGAGATGGGCAAG -3'
(R):5'- TCCATGCATCAGGGCAATGCAC -3'

Sequencing Primer
(F):5'- AAAATGGACTGCCAGTGTTTGC -3'
(R):5'- CACTCAGAGAGGCTGTGTG -3'
Posted On 2013-05-23