Incidental Mutation 'R5925:Antxr1'
ID 461786
Institutional Source Beutler Lab
Gene Symbol Antxr1
Ensembl Gene ENSMUSG00000033420
Gene Name anthrax toxin receptor 1
Synonyms 2810405N18Rik, Tem8, 2310008J16Rik
MMRRC Submission 044120-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5925 (G1)
Quality Score 165
Status Not validated
Chromosome 6
Chromosomal Location 87110835-87312757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87289344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 60 (I60T)
Ref Sequence ENSEMBL: ENSMUSP00000144911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000205033]
AlphaFold Q9CZ52
Predicted Effect probably damaging
Transcript: ENSMUST00000042025
AA Change: I60T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420
AA Change: I60T

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 noncoding transcript
Transcript: ENSMUST00000203563
Predicted Effect probably damaging
Transcript: ENSMUST00000204805
AA Change: I60T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420
AA Change: I60T

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 damaging
Transcript: ENSMUST00000205033
AA Change: I60T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420
AA Change: I60T

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: 99.8%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik C T 5: 66,147,735 (GRCm39) W16* probably null Het
Abca8a T C 11: 109,948,049 (GRCm39) D985G probably damaging Het
Afp T A 5: 90,645,147 (GRCm39) C188S probably damaging Het
Ank2 A C 3: 126,726,612 (GRCm39) L894R probably benign Het
Bltp2 T C 11: 78,175,064 (GRCm39) V1733A probably benign Het
Ccdc187 A G 2: 26,183,593 (GRCm39) S136P probably benign Het
Cep95 T C 11: 106,703,227 (GRCm39) S393P probably benign Het
Cyfip2 T C 11: 46,098,263 (GRCm39) Y1053C probably damaging Het
Diaph1 A G 18: 38,024,988 (GRCm39) V491A unknown Het
Dync2i1 A T 12: 116,197,014 (GRCm39) F448I possibly damaging Het
Ehf T C 2: 103,097,338 (GRCm39) probably null Het
Eif2b5 C T 16: 20,326,874 (GRCm39) H99Y probably benign Het
Exosc10 C A 4: 148,657,819 (GRCm39) T655K probably benign Het
Flg A T 3: 93,186,706 (GRCm39) I53F probably damaging Het
Hc T A 2: 34,920,462 (GRCm39) D628V possibly damaging Het
Lmo4 A T 3: 143,900,252 (GRCm39) N83K probably benign Het
Lrp4 A T 2: 91,342,029 (GRCm39) T1881S probably benign Het
Malt1 T A 18: 65,564,439 (GRCm39) L66Q possibly damaging Het
Map3k3 T C 11: 106,040,376 (GRCm39) S314P probably benign Het
Mpzl3 G T 9: 44,973,412 (GRCm39) K50N probably damaging Het
Nbeal2 G T 9: 110,458,948 (GRCm39) Q1992K probably benign Het
Nlrp14 T A 7: 106,785,860 (GRCm39) N645K probably benign Het
Or2g1 T C 17: 38,106,482 (GRCm39) I49T probably benign Het
Or6c76b A G 10: 129,692,744 (GRCm39) D119G probably damaging Het
Pcdha1 T A 18: 37,063,724 (GRCm39) D129E probably damaging Het
Prb1a A G 6: 132,187,475 (GRCm39) L2P unknown Het
Rhbdf1 A G 11: 32,162,906 (GRCm39) Y454H probably benign Het
Satb2 C T 1: 56,836,097 (GRCm39) A565T possibly damaging Het
Sh3pxd2a A T 19: 47,256,051 (GRCm39) L889Q probably damaging Het
Sis T C 3: 72,828,713 (GRCm39) probably null Het
Slc35e2 T C 4: 155,696,084 (GRCm39) V157A probably damaging Het
Slc35f3 T C 8: 127,115,946 (GRCm39) V291A probably benign Het
Snph T C 2: 151,436,151 (GRCm39) D190G probably damaging Het
Tpd52l1 T C 10: 31,208,943 (GRCm39) H170R probably benign Het
Trav18 A G 14: 54,069,152 (GRCm39) T65A probably benign Het
Trip12 G A 1: 84,726,974 (GRCm39) Q9* probably null Het
Ttn C T 2: 76,632,592 (GRCm39) C12408Y probably damaging Het
Ttn T C 2: 76,639,355 (GRCm39) D13806G probably damaging Het
Unc79 G C 12: 103,091,989 (GRCm39) probably null Het
Vmn2r81 T C 10: 79,083,637 (GRCm39) S4P probably damaging Het
Zfp37 G A 4: 62,109,450 (GRCm39) T576I possibly damaging Het
Zfp39 A T 11: 58,782,099 (GRCm39) L221Q possibly damaging Het
Zgrf1 A G 3: 127,366,853 (GRCm39) H744R possibly damaging 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
R0333:Antxr1 UTSW 6 87,165,820 (GRCm39) splice site probably benign
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
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'- TCACCTAGCACTTTGTGGC -3'
(R):5'- CACTGTCAGAGTTTGGCGTG -3'

Sequencing Primer
(F):5'- TGTGGCCTCCCTATGCACAG -3'
(R):5'- TGGGAGATGAAGTTGGAGGAATTCC -3'
Posted On 2017-02-28