Incidental Mutation 'R5671:Antxr1'
ID 442618
Institutional Source Beutler Lab
Gene Symbol Antxr1
Ensembl Gene ENSMUSG00000033420
Gene Name anthrax toxin receptor 1
Synonyms 2810405N18Rik, Tem8, 2310008J16Rik
MMRRC Submission 043314-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5671 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 87110835-87312757 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 87194255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000204805] [ENSMUST00000205033] [ENSMUST00000205033]
AlphaFold Q9CZ52
Predicted Effect probably null
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 null
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 null
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 null
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
Predicted Effect probably null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205089
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ak2 T A 4: 128,902,040 (GRCm39) F238I probably damaging Het
Akap8l T C 17: 32,557,266 (GRCm39) Y115C probably damaging Het
Alms1 T A 6: 85,606,190 (GRCm39) N2613K possibly damaging Het
Ap3b1 A T 13: 94,664,765 (GRCm39) R901S unknown Het
Arhgap45 A G 10: 79,861,310 (GRCm39) E491G probably damaging Het
Capn11 C T 17: 45,950,600 (GRCm39) R293Q possibly damaging Het
Cdx1 C T 18: 61,152,971 (GRCm39) V212I probably benign Het
Clca4b G A 3: 144,627,624 (GRCm39) T449I probably benign Het
Clec14a T C 12: 58,314,612 (GRCm39) I337V probably benign Het
Clip4 A C 17: 72,096,878 (GRCm39) M1L probably damaging Het
Exoc3l4 T C 12: 111,389,851 (GRCm39) I142T probably damaging Het
Flnb T A 14: 7,890,843 (GRCm38) I575N probably benign Het
Gad1-ps A T 10: 99,280,395 (GRCm39) noncoding transcript Het
Golga7 C T 8: 23,740,360 (GRCm39) A57T probably damaging Het
Gpa33 A G 1: 165,974,360 (GRCm39) T66A possibly damaging Het
Gpr141b A G 13: 19,913,465 (GRCm39) noncoding transcript Het
Gpr45 A G 1: 43,072,218 (GRCm39) Y287C probably damaging Het
H2-Eb1 C A 17: 34,533,229 (GRCm39) Y150* probably null Het
Hsd17b8 T C 17: 34,245,435 (GRCm39) D233G probably null Het
Ifna6 A T 4: 88,745,906 (GRCm39) Q85L probably damaging Het
Igkv9-120 G A 6: 68,027,257 (GRCm39) W57* probably null Het
Ivns1abp G T 1: 151,229,760 (GRCm39) L149F probably benign Het
Kank4 A G 4: 98,653,698 (GRCm39) probably null Het
Lama2 A T 10: 27,066,540 (GRCm39) C1114S probably damaging Het
Lmbr1l A C 15: 98,805,489 (GRCm39) D337E possibly damaging Het
Ly75 T C 2: 60,138,655 (GRCm39) D1404G probably damaging Het
Muc4 A G 16: 32,575,011 (GRCm39) T1199A probably benign Het
Nalcn A G 14: 123,532,818 (GRCm39) I1314T probably damaging Het
Nhlrc1 A G 13: 47,167,193 (GRCm39) F355L probably benign Het
Or2y16 T C 11: 49,335,140 (GRCm39) V154A probably benign Het
Or4k39 C T 2: 111,238,818 (GRCm39) noncoding transcript Het
Or5b21 A T 19: 12,839,171 (GRCm39) T11S probably benign Het
Pcsk1 A G 13: 75,246,026 (GRCm39) T135A possibly damaging Het
Ptpru T A 4: 131,547,501 (GRCm39) Y112F possibly damaging Het
Rbbp8 A G 18: 11,875,699 (GRCm39) S871G probably benign Het
Rhoj A T 12: 75,440,743 (GRCm39) I135F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Semp2l2b T A 10: 21,942,742 (GRCm39) T413S possibly damaging Het
Ska1 G T 18: 74,330,067 (GRCm39) D224E probably damaging Het
Slc11a2 A G 15: 100,301,169 (GRCm39) Y295H probably damaging Het
Slc22a28 A T 19: 8,108,795 (GRCm39) C116S probably damaging Het
Synpo T C 18: 60,729,022 (GRCm39) D1060G probably damaging Het
Tectb T C 19: 55,181,059 (GRCm39) S310P probably benign Het
Tmc6 A G 11: 117,666,441 (GRCm39) S288P possibly damaging Het
Tpo A G 12: 30,169,490 (GRCm39) S82P probably benign Het
Ttyh3 T A 5: 140,617,307 (GRCm39) M321L probably benign Het
Usp8 A G 2: 126,584,345 (GRCm39) D518G probably benign Het
Vmn2r11 A G 5: 109,202,772 (GRCm39) W102R probably benign Het
Vps13a G A 19: 16,692,464 (GRCm39) H817Y probably benign Het
Vps51 A G 19: 6,118,224 (GRCm39) V757A probably benign Het
Washc4 T C 10: 83,405,892 (GRCm39) S463P probably damaging Het
Zfp423 T C 8: 88,508,955 (GRCm39) N442S probably 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
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'- TGCTGACAGCTCACAGAACC -3'
(R):5'- CTGACTCTTGGTGTACAATGTGC -3'

Sequencing Primer
(F):5'- CCAAGTGACCAAGCCTGGATTATG -3'
(R):5'- GAGGCCTCAAATCTTCCATCACTG -3'
Posted On 2016-11-09