Incidental Mutation 'R5269:Antxr1'
ID400054
Institutional Source Beutler Lab
Gene Symbol Antxr1
Ensembl Gene ENSMUSG00000033420
Gene Nameanthrax toxin receptor 1
Synonyms2310008J16Rik, Tem8, 2810405N18Rik
MMRRC Submission 042834-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5269 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location87133853-87335821 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87180183 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 452 (L452P)
Ref Sequence ENSEMBL: ENSMUSP00000144911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000205033]
Predicted Effect probably damaging
Transcript: ENSMUST00000042025
AA Change: L452P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420
AA Change: L452P

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 damaging
Transcript: ENSMUST00000204805
AA Change: L452P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420
AA Change: L452P

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: L452P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420
AA Change: L452P

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
Meta Mutation Damage Score 0.32 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (71/71)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,376,743 S357P possibly damaging Het
Adam39 A G 8: 40,825,981 I470V probably benign Het
Agrn A T 4: 156,168,990 C1708S probably benign Het
Agtpbp1 A G 13: 59,473,743 I42T probably damaging Het
Akap6 T C 12: 53,139,843 C1347R probably damaging Het
Als2cr12 A G 1: 58,691,760 S46P possibly damaging Het
Arhgef33 T A 17: 80,370,275 V417D probably damaging Het
Brca2 A G 5: 150,539,223 I817M possibly damaging Het
Casp4 A T 9: 5,321,521 probably benign Het
Cdh20 T C 1: 104,934,157 Y21H possibly damaging Het
Cdr2 C T 7: 120,958,334 V323M possibly damaging Het
Cebpa G A 7: 35,119,858 R147H probably benign Het
Cetn4 C A 3: 37,309,969 E31* probably null Het
Cobll1 G A 2: 65,133,771 Q189* probably null Het
Colec12 A G 18: 9,846,825 T74A possibly damaging Het
Crisp4 A G 1: 18,128,710 S124P probably damaging Het
Eddm3b T A 14: 51,116,721 D55E probably damaging Het
Elmo1 C A 13: 20,449,486 N439K probably benign Het
Fabp12 T C 3: 10,250,107 N60S probably benign Het
Fam196b G A 11: 34,402,788 E277K probably damaging Het
Fat2 T A 11: 55,287,878 H1452L probably benign Het
Flrt2 T C 12: 95,779,938 V350A possibly damaging Het
Ganab T C 19: 8,911,937 F626S probably damaging Het
Ghr T C 15: 3,320,079 Y539C probably benign Het
Gm6871 T C 7: 41,548,101 T112A probably damaging Het
Gm7133 T A 1: 97,183,123 noncoding transcript Het
Gon4l A C 3: 88,895,528 I1149L probably benign Het
Greb1l G A 18: 10,511,409 D45N probably benign Het
H2-K1 A G 17: 33,997,015 probably benign Het
Herc2 C T 7: 56,168,870 R2770* probably null Het
Itsn2 A G 12: 4,633,553 probably benign Het
Klb A G 5: 65,348,797 D129G probably damaging Het
Klf1 A G 8: 84,903,340 I265V probably benign Het
Ltbr G A 6: 125,312,794 R146W probably damaging Het
Map3k10 T C 7: 27,658,532 E607G probably benign Het
Melk C T 4: 44,363,730 T592M probably damaging Het
Mroh6 A G 15: 75,885,790 L457P probably damaging Het
Mrpl21 T A 19: 3,287,012 C128S probably damaging Het
Olfr564 T C 7: 102,804,120 V214A probably benign Het
Paqr4 G T 17: 23,738,213 H105Q probably damaging Het
Pcdhga10 A G 18: 37,748,694 I503V probably benign Het
Pds5a T C 5: 65,663,928 N151S probably damaging Het
Pif1 A G 9: 65,591,829 T444A possibly damaging Het
Ppp2r3a T C 9: 101,153,865 R851G probably damaging Het
R3hdm4 C T 10: 79,912,458 E162K possibly damaging Het
Ros1 T G 10: 52,051,008 Q2172P probably damaging Het
Rpe65 A G 3: 159,604,347 T86A probably benign Het
Rpl18a G A 8: 70,896,288 R15C possibly damaging Het
Sh3tc2 A G 18: 61,975,613 K258R probably benign Het
Ska3 T A 14: 57,822,116 E84V possibly damaging Het
Slc25a40 T A 5: 8,447,409 probably null Het
Slf1 A T 13: 77,104,581 S274T probably benign Het
Spata21 A T 4: 141,103,021 Q267H probably damaging Het
Strbp A T 2: 37,627,443 W207R possibly damaging Het
Taf6l T C 19: 8,774,962 E454G probably damaging Het
Tcam1 C A 11: 106,285,527 L360I probably benign Het
Tnxb G A 17: 34,703,608 R2465H possibly damaging Het
Trim66 T A 7: 109,457,590 Y1120F probably benign Het
Trp53 T A 11: 69,589,205 M243K probably damaging Het
Ttl T A 2: 129,068,911 C72S probably damaging Het
Ttn A G 2: 76,708,896 V34582A probably benign Het
Uqcrh T C 4: 116,069,904 T31A possibly damaging Het
Usp40 A G 1: 87,995,782 C256R probably benign Het
Vmn1r168 A G 7: 23,541,414 E232G probably benign Het
Wdr72 A T 9: 74,157,371 I562F probably damaging Het
Wnt4 A G 4: 137,277,750 N24S probably benign Het
Other mutations in Antxr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Antxr1 APN 6 87288802 missense probably damaging 1.00
IGL02391:Antxr1 APN 6 87287056 missense probably damaging 1.00
IGL02944:Antxr1 APN 6 87188159 missense possibly damaging 0.93
IGL03278:Antxr1 APN 6 87204457 splice site probably benign
slinky UTSW 6 87287000 critical splice donor site probably null
slipnslide UTSW 6 87284309 missense probably damaging 1.00
stubby UTSW 6 87217273 critical splice donor site probably null
E0374:Antxr1 UTSW 6 87255879 missense probably benign 0.03
R0333:Antxr1 UTSW 6 87188838 splice site probably benign
R0456:Antxr1 UTSW 6 87217275 missense probably damaging 1.00
R0482:Antxr1 UTSW 6 87269238 splice site probably null
R4612:Antxr1 UTSW 6 87288173 missense probably damaging 1.00
R5610:Antxr1 UTSW 6 87255863 missense probably damaging 1.00
R5671:Antxr1 UTSW 6 87217273 critical splice donor site probably null
R5893:Antxr1 UTSW 6 87137259 missense probably benign 0.00
R5925:Antxr1 UTSW 6 87312362 missense probably damaging 1.00
R6038:Antxr1 UTSW 6 87287000 critical splice donor site probably null
R6038:Antxr1 UTSW 6 87287000 critical splice donor site probably null
R6658:Antxr1 UTSW 6 87284309 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTGCTATCTGATCTGTCACCAC -3'
(R):5'- CCCTTGCATTAGAGAGTGGAGAG -3'

Sequencing Primer
(F):5'- CCACAGGAAATAACATCTAGAGTTG -3'
(R):5'- GAGAGGCCCTAATCCACGTTC -3'
Posted On2016-07-06