Incidental Mutation 'IGL00566:Antxr2'
ID 5583
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Antxr2
Ensembl Gene ENSMUSG00000029338
Gene Name anthrax toxin receptor 2
Synonyms 2310046B19Rik, CMG-2, cI-35, CMG2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL00566
Quality Score
Status
Chromosome 5
Chromosomal Location 98032547-98178876 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 98034466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031281]
AlphaFold Q6DFX2
Predicted Effect probably benign
Transcript: ENSMUST00000031281
SMART Domains Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
VWA 42 214 2.86e-18 SMART
Pfam:Anth_Ig 215 317 4e-38 PFAM
transmembrane domain 319 341 N/A INTRINSIC
low complexity region 352 369 N/A INTRINSIC
Pfam:Ant_C 394 485 7.4e-46 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for null mutations display female infertility. Mice homozygous for one allele are highly resistant to Bacillus anthracis or anthrax toxin induced lethality. Young mice homozygous for a second allele display pregnancy-related premature death and failure of parturition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,274,815 (GRCm39) T173A possibly damaging Het
Acaa2 G A 18: 74,926,449 (GRCm39) G135E probably damaging Het
Actr2 C A 11: 20,022,487 (GRCm39) R328L possibly damaging Het
Adam1b T C 5: 121,639,056 (GRCm39) D663G probably damaging Het
Adcy10 A T 1: 165,379,483 (GRCm39) E915V probably benign Het
Ckap5 T A 2: 91,398,972 (GRCm39) probably benign Het
Clec4g T C 8: 3,766,410 (GRCm39) probably benign Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Diaph3 C T 14: 87,240,307 (GRCm39) R248K probably benign Het
Fut10 T C 8: 31,725,712 (GRCm39) Y156H probably damaging Het
Ice2 T C 9: 69,323,395 (GRCm39) V630A probably benign Het
Ints13 A T 6: 146,467,174 (GRCm39) V179D probably damaging Het
Kcnj2 A C 11: 110,962,653 (GRCm39) E15A probably damaging Het
Kifbp G T 10: 62,395,118 (GRCm39) S508* probably null Het
Lpcat2b T A 5: 107,581,670 (GRCm39) L333Q probably damaging Het
Lrguk A C 6: 34,033,109 (GRCm39) L258F probably damaging Het
M6pr A T 6: 122,290,337 (GRCm39) K100M probably damaging Het
Nop14 T C 5: 34,798,657 (GRCm39) probably benign Het
Pcdh20 A G 14: 88,705,317 (GRCm39) V661A possibly damaging Het
Vcan A T 13: 89,837,098 (GRCm39) H2815Q probably benign Het
Other mutations in Antxr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Antxr2 APN 5 98,152,155 (GRCm39) missense probably benign 0.26
IGL01105:Antxr2 APN 5 98,152,802 (GRCm39) splice site probably benign
IGL01472:Antxr2 APN 5 98,175,358 (GRCm39) missense probably benign 0.00
IGL01719:Antxr2 APN 5 98,096,132 (GRCm39) missense possibly damaging 0.82
IGL02184:Antxr2 APN 5 98,125,454 (GRCm39) splice site probably null
IGL02199:Antxr2 APN 5 98,125,454 (GRCm39) splice site probably null
IGL02250:Antxr2 APN 5 98,125,454 (GRCm39) splice site probably null
IGL02251:Antxr2 APN 5 98,125,454 (GRCm39) splice site probably null
IGL02368:Antxr2 APN 5 98,097,057 (GRCm39) missense probably damaging 1.00
IGL02447:Antxr2 APN 5 98,178,267 (GRCm39) missense possibly damaging 0.61
IGL02740:Antxr2 APN 5 98,178,251 (GRCm39) splice site probably benign
IGL02850:Antxr2 APN 5 98,151,937 (GRCm39) missense probably damaging 1.00
IGL02867:Antxr2 APN 5 98,125,509 (GRCm39) missense probably benign 0.00
IGL02889:Antxr2 APN 5 98,125,509 (GRCm39) missense probably benign 0.00
G1Funyon:Antxr2 UTSW 5 98,125,538 (GRCm39) missense probably benign 0.20
R0013:Antxr2 UTSW 5 98,127,844 (GRCm39) missense probably damaging 0.98
R0040:Antxr2 UTSW 5 98,086,284 (GRCm39) missense possibly damaging 0.74
R0040:Antxr2 UTSW 5 98,086,284 (GRCm39) missense possibly damaging 0.74
R0069:Antxr2 UTSW 5 98,096,109 (GRCm39) missense possibly damaging 0.95
R0184:Antxr2 UTSW 5 98,127,889 (GRCm39) missense probably damaging 1.00
R0367:Antxr2 UTSW 5 98,177,455 (GRCm39) missense probably benign 0.01
R0638:Antxr2 UTSW 5 98,108,496 (GRCm39) nonsense probably null
R0732:Antxr2 UTSW 5 98,108,567 (GRCm39) splice site probably null
R1255:Antxr2 UTSW 5 98,123,231 (GRCm39) missense probably benign 0.39
R1471:Antxr2 UTSW 5 98,123,199 (GRCm39) missense possibly damaging 0.88
R1520:Antxr2 UTSW 5 98,108,551 (GRCm39) missense probably benign 0.38
R1660:Antxr2 UTSW 5 98,123,209 (GRCm39) nonsense probably null
R1870:Antxr2 UTSW 5 98,178,297 (GRCm39) missense probably damaging 1.00
R2969:Antxr2 UTSW 5 98,178,275 (GRCm39) nonsense probably null
R3547:Antxr2 UTSW 5 98,125,516 (GRCm39) missense probably benign 0.09
R4237:Antxr2 UTSW 5 98,086,266 (GRCm39) missense probably damaging 1.00
R4660:Antxr2 UTSW 5 98,151,913 (GRCm39) critical splice donor site probably null
R4702:Antxr2 UTSW 5 98,097,028 (GRCm39) critical splice donor site probably null
R4893:Antxr2 UTSW 5 98,151,931 (GRCm39) missense probably damaging 1.00
R4997:Antxr2 UTSW 5 98,125,553 (GRCm39) missense probably benign 0.04
R5388:Antxr2 UTSW 5 98,125,458 (GRCm39) critical splice donor site probably null
R5604:Antxr2 UTSW 5 98,096,169 (GRCm39) missense probably damaging 0.98
R6093:Antxr2 UTSW 5 98,178,319 (GRCm39) missense probably damaging 0.99
R6118:Antxr2 UTSW 5 98,097,060 (GRCm39) missense probably damaging 1.00
R6130:Antxr2 UTSW 5 98,152,131 (GRCm39) missense possibly damaging 0.89
R6139:Antxr2 UTSW 5 98,125,565 (GRCm39) splice site probably null
R6992:Antxr2 UTSW 5 98,108,564 (GRCm39) missense probably benign 0.09
R8127:Antxr2 UTSW 5 98,127,876 (GRCm39) nonsense probably null
R8267:Antxr2 UTSW 5 98,113,621 (GRCm39) critical splice acceptor site probably null
R8301:Antxr2 UTSW 5 98,125,538 (GRCm39) missense probably benign 0.20
R8324:Antxr2 UTSW 5 98,086,368 (GRCm39) missense probably damaging 1.00
R8840:Antxr2 UTSW 5 98,152,769 (GRCm39) missense probably damaging 1.00
R9125:Antxr2 UTSW 5 98,151,973 (GRCm39) missense probably damaging 1.00
R9340:Antxr2 UTSW 5 98,086,306 (GRCm39) missense probably damaging 0.98
R9722:Antxr2 UTSW 5 98,096,186 (GRCm39) missense possibly damaging 0.81
Posted On 2012-04-20