Incidental Mutation 'R0184:Antxr2'
ID 23942
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 038449-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R0184 (G1)
Quality Score 210
Status Validated (trace)
Chromosome 5
Chromosomal Location 98032547-98178876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98127889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 214 (L214S)
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: L214S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338
AA Change: L214S

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: L214S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142605
Gene: ENSMUSG00000029338
AA Change: L214S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202736
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 93.9%
Validation Efficiency 66% (50/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C A 3: 124,212,899 (GRCm39) V131F probably damaging Het
Adam28 T C 14: 68,874,822 (GRCm39) D285G probably benign Het
Akr1c13 A G 13: 4,244,055 (GRCm39) E36G probably damaging Het
Arhgap26 T A 18: 38,750,726 (GRCm39) D46E unknown Het
Armc9 T C 1: 86,126,092 (GRCm39) L61P probably damaging Het
Bicc1 C A 10: 70,915,045 (GRCm39) R73L probably benign Het
Calm2 T C 17: 87,743,269 (GRCm39) N43S probably benign Het
Cct7 A G 6: 85,438,536 (GRCm39) D105G probably null Het
Cdk18 T C 1: 132,046,276 (GRCm39) N215D probably benign Het
Cep126 T C 9: 8,103,396 (GRCm39) T205A probably benign Het
Cfap57 A T 4: 118,456,209 (GRCm39) I495N probably damaging Het
Cyp2b9 T A 7: 25,886,432 (GRCm39) C152* probably null Het
Dab2ip G A 2: 35,608,803 (GRCm39) R579H probably damaging Het
Dnah8 T C 17: 30,902,657 (GRCm39) V905A probably benign Het
Eif4h C A 5: 134,654,229 (GRCm39) D134Y possibly damaging Het
Espl1 T A 15: 102,207,651 (GRCm39) S372T probably benign Het
Fat2 T A 11: 55,187,114 (GRCm39) H1244L probably damaging Het
Fbxo11 T A 17: 88,316,101 (GRCm39) N443I probably benign Het
Git2 G A 5: 114,877,098 (GRCm39) T128M possibly damaging Het
Gm10985 T A 3: 53,752,679 (GRCm39) Y21N probably damaging Het
Gm12790 A T 4: 101,824,811 (GRCm39) Y152* probably null Het
Heatr5a T C 12: 51,956,752 (GRCm39) D1115G probably benign Het
Hipk2 T C 6: 38,695,866 (GRCm39) N726S possibly damaging Het
Hrg T C 16: 22,772,521 (GRCm39) probably null Het
Iars1 T G 13: 49,875,688 (GRCm39) S792A probably benign Het
Igf1r A G 7: 67,875,941 (GRCm39) N1301S possibly damaging Het
Il22 A T 10: 118,041,511 (GRCm39) I75F probably damaging Het
Ilkap T C 1: 91,304,027 (GRCm39) probably benign Het
Ints13 A T 6: 146,456,542 (GRCm39) Y435N probably benign Het
Ints8 A C 4: 11,218,637 (GRCm39) S797A probably benign Het
Itgad T A 7: 127,788,403 (GRCm39) D405E probably benign Het
Itgam A T 7: 127,685,230 (GRCm39) I448F probably damaging Het
Klk1 C T 7: 43,878,173 (GRCm39) T41I possibly damaging Het
Mcrip1 T C 11: 120,435,710 (GRCm39) M1V probably null Het
Mdga1 A G 17: 30,071,416 (GRCm39) Y128H probably damaging Het
Mtor G T 4: 148,549,428 (GRCm39) R604L probably benign Het
Or52p1 T C 7: 104,267,447 (GRCm39) V187A probably damaging Het
Or5d41 A T 2: 88,055,124 (GRCm39) L84* probably null Het
Pcdhb7 T A 18: 37,476,443 (GRCm39) D526E probably benign Het
Pip4k2a T C 2: 18,893,939 (GRCm39) D139G probably damaging Het
Pkp3 A C 7: 140,668,280 (GRCm39) N536T probably benign Het
Pla2g4c T A 7: 13,090,145 (GRCm39) S524T probably benign Het
Pno1 T C 11: 17,161,127 (GRCm39) E69G probably benign Het
Pold1 C T 7: 44,191,139 (GRCm39) V231M probably benign Het
Poli A G 18: 70,655,802 (GRCm39) S248P probably damaging Het
Ppox C T 1: 171,107,126 (GRCm39) S138N probably damaging Het
Psg20 T C 7: 18,419,901 (GRCm39) E6G probably null Het
Rbmx C T X: 56,436,926 (GRCm39) probably null Het
Rln1 T A 19: 29,309,336 (GRCm39) K148* probably null Het
Rnf213 C T 11: 119,305,347 (GRCm39) T526I probably damaging Het
Rps6kc1 A T 1: 190,531,290 (GRCm39) V904E probably null Het
Sf3b2 T A 19: 5,333,700 (GRCm39) I633F probably damaging Het
Sfswap T A 5: 129,584,253 (GRCm39) I189N probably damaging Het
Smarca2 T A 19: 26,669,649 (GRCm39) Y973* probably null Het
Spink5 G A 18: 44,136,265 (GRCm39) D559N probably benign Het
Spty2d1 C T 7: 46,647,322 (GRCm39) V536I possibly damaging Het
Tbx3 T C 5: 119,813,627 (GRCm39) I221T probably damaging Het
Tcf20 T A 15: 82,736,501 (GRCm39) D1650V probably damaging Het
Thsd7b A G 1: 129,358,701 (GRCm39) K45R probably benign Het
Tirap A G 9: 35,100,490 (GRCm39) S65P probably benign Het
Trim25 C T 11: 88,890,466 (GRCm39) P51L probably damaging Het
Trim61 T C 8: 65,467,069 (GRCm39) N64S probably benign Het
Twf1 T A 15: 94,478,948 (GRCm39) probably null Het
Ubr4 A C 4: 139,172,573 (GRCm39) T1692P probably damaging Het
Usp3 A G 9: 66,469,863 (GRCm39) M86T probably damaging Het
Utrn T C 10: 12,543,362 (GRCm39) D1762G probably benign Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Vmn2r52 T C 7: 9,893,265 (GRCm39) S625G probably damaging Het
Vmn2r90 G A 17: 17,947,139 (GRCm39) W472* probably null Het
Vrk2 C A 11: 26,500,046 (GRCm39) A56S probably damaging Het
Yeats2 C T 16: 20,022,435 (GRCm39) P620S possibly damaging Het
Zbtb21 C T 16: 97,751,713 (GRCm39) D171N probably damaging Het
Zeb1 A T 18: 5,766,808 (GRCm39) I440F probably damaging Het
Zfp292 A G 4: 34,819,563 (GRCm39) I253T probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GTCATTTCCCTATGAGCCTGGAGC -3'
(R):5'- TGTTAGACCCTGCGACAACACAAG -3'

Sequencing Primer
(F):5'- CCAGGTCATTAGAGCATAGAGC -3'
(R):5'- AGCTCAATGGGTAGTGGTGA -3'
Posted On 2013-04-16