Incidental Mutation 'R9125:Antxr2'
ID 693175
Institutional Source Beutler Lab
Gene Symbol Antxr2
Ensembl Gene ENSMUSG00000029338
Gene Name anthrax toxin receptor 2
Synonyms 2310046B19Rik, CMG-2, cI-35, CMG2
MMRRC Submission 068925-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R9125 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 98032547-98178876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98151973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 166 (S166F)
Ref Sequence ENSEMBL: ENSMUSP00000142605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031281] [ENSMUST00000199088]
AlphaFold Q6DFX2
Predicted Effect probably damaging
Transcript: ENSMUST00000031281
AA Change: S166F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338
AA Change: S166F

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
Predicted Effect probably damaging
Transcript: ENSMUST00000199088
AA Change: S166F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142605
Gene: ENSMUSG00000029338
AA Change: S166F

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
VWA 42 214 1.7e-20 SMART
transmembrane domain 319 341 N/A INTRINSIC
low complexity region 352 369 N/A INTRINSIC
Pfam:Ant_C 394 483 1.6e-41 PFAM
Meta Mutation Damage Score 0.2496 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (64/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G A 17: 84,976,425 (GRCm39) H471Y probably damaging Het
Adam3 A G 8: 25,213,517 (GRCm39) L61P probably damaging Het
Ank2 T A 3: 126,733,744 (GRCm39) D622V probably damaging Het
Asph C T 4: 9,474,928 (GRCm39) G682D possibly damaging Het
Asz1 T C 6: 18,054,561 (GRCm39) E414G probably benign Het
Cabp2 G A 19: 4,135,597 (GRCm39) D96N probably damaging Het
Cc2d2a T A 5: 43,860,563 (GRCm39) D546E probably benign Het
Cdca2 T A 14: 67,917,762 (GRCm39) R545S probably benign Het
Chrna7 G A 7: 62,757,357 (GRCm39) Q181* probably null Het
Cib1 T C 7: 79,877,751 (GRCm39) D182G probably damaging Het
Cib4 T C 5: 30,655,477 (GRCm39) H76R probably benign Het
Cop1 T G 1: 159,067,187 (GRCm39) F157V probably damaging Het
Cspg4b C T 13: 113,505,374 (GRCm39) P2168S Het
Dap3 T A 3: 88,837,861 (GRCm39) T130S probably benign Het
Ddb2 T A 2: 91,064,593 (GRCm39) K106* probably null Het
Derl3 G A 10: 75,730,443 (GRCm39) V169I probably benign Het
Dusp6 T A 10: 99,102,074 (GRCm39) C353* probably null Het
Efcab3 A T 11: 104,736,360 (GRCm39) D2110V probably damaging Het
Fry A G 5: 150,269,525 (GRCm39) N217S probably damaging Het
Gabrb2 A G 11: 42,482,693 (GRCm39) T184A probably damaging Het
Gfpt1 G A 6: 87,053,248 (GRCm39) V403I probably benign Het
Gm7276 A G 18: 77,273,147 (GRCm39) S196P unknown Het
Grik1 T A 16: 87,852,956 (GRCm39) T76S Het
Hrnr A G 3: 93,238,863 (GRCm39) N3034D unknown Het
Kmt2c T C 5: 25,489,194 (GRCm39) T4582A possibly damaging Het
Mroh9 T C 1: 162,875,412 (GRCm39) I496V probably benign Het
Muc3a A G 5: 137,245,210 (GRCm39) L115P probably damaging Het
Nfe2 A G 15: 103,157,871 (GRCm39) L40P probably damaging Het
Nipsnap3b A T 4: 53,021,177 (GRCm39) D216V probably damaging Het
Or5d14 C T 2: 87,880,294 (GRCm39) V225M probably damaging Het
Or8b49 T A 9: 38,506,108 (GRCm39) I197K probably damaging Het
Otx1 G A 11: 21,949,458 (GRCm39) Q7* probably null Het
Piezo2 A G 18: 63,178,589 (GRCm39) I1776T probably benign Het
Pira12 T A 7: 3,900,021 (GRCm39) I194L possibly damaging Het
Ppp1r37 T C 7: 19,269,014 (GRCm39) D162G probably benign Het
Ppp4c T A 7: 126,386,739 (GRCm39) E116V probably damaging Het
Pramel17 A G 4: 101,694,073 (GRCm39) V270A probably benign Het
Prorp A T 12: 55,355,611 (GRCm39) D372V possibly damaging Het
Psme2 T A 14: 55,828,302 (GRCm39) K15N possibly damaging Het
Retreg1 C T 15: 25,968,618 (GRCm39) R125C probably damaging Het
Rgs16 A G 1: 153,617,874 (GRCm39) E128G probably null Het
Rnf145 G T 11: 44,450,819 (GRCm39) R381L probably damaging Het
Rnf2 T C 1: 151,347,433 (GRCm39) K289E probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Ryr2 A G 13: 11,669,292 (GRCm39) V3504A probably benign Het
Selp T A 1: 163,951,356 (GRCm39) I30N probably benign Het
Serpinb5 C T 1: 106,798,137 (GRCm39) A42V probably benign Het
Sfpq G A 4: 126,915,633 (GRCm39) G142S unknown Het
Sh2d1b2 T C 1: 170,075,751 (GRCm39) Y62H possibly damaging Het
Sipa1l3 C T 7: 29,086,656 (GRCm39) E645K probably damaging Het
Slc22a1 T A 17: 12,878,598 (GRCm39) T372S probably benign Het
Smarca2 T A 19: 26,693,583 (GRCm39) D1262E possibly damaging Het
Speer4a3 T C 5: 26,156,596 (GRCm39) M128V possibly damaging Het
Sptbn2 A T 19: 4,784,241 (GRCm39) Q661L probably benign Het
Tarbp1 G T 8: 127,174,202 (GRCm39) T868K possibly damaging Het
Tnfrsf8 A G 4: 145,023,531 (GRCm39) S101P probably damaging Het
Tnfsf10 A C 3: 27,380,028 (GRCm39) probably benign Het
Tsc2 C T 17: 24,823,802 (GRCm39) R1001K probably null Het
Unc80 T A 1: 66,718,740 (GRCm39) S2988T probably benign Het
Vmn1r195 A G 13: 22,463,335 (GRCm39) I268M possibly damaging Het
Vmn1r27 G A 6: 58,192,416 (GRCm39) T196I probably benign Het
Vmn2r80 T A 10: 78,984,760 (GRCm39) D37E probably benign Het
Vmn2r9 A T 5: 108,996,047 (GRCm39) H200Q Het
Washc5 T C 15: 59,209,134 (GRCm39) Y1030C probably damaging Het
Wdr47 T C 3: 108,526,106 (GRCm39) F210L probably damaging Het
Wscd2 C A 5: 113,715,417 (GRCm39) A419E probably benign Het
Other mutations in Antxr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Antxr2 APN 5 98,034,466 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ATTTTCCGTTTTAGGAGAGCTCAGAAC -3'
(R):5'- TCATAATTGCTTTGACGGACGG -3'

Sequencing Primer
(F):5'- TTTTAGGAGAGCTCAGAACACAAGTC -3'
(R):5'- GACGGCCTGGTACCATCTTATG -3'
Posted On 2022-01-20