Incidental Mutation 'R4893:Antxr2'
ID 377394
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 042498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R4893 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 98032547-98178876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98151931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 180 (D180V)
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: D180V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338
AA Change: D180V

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: D180V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142605
Gene: ENSMUSG00000029338
AA Change: D180V

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: ENSMUST00000199517
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 117,697,904 (GRCm39) I401T probably damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
Acss1 C A 2: 150,471,786 (GRCm39) V323F probably damaging Het
Adgrf3 T G 5: 30,405,476 (GRCm39) D286A probably benign Het
Akap5 T C 12: 76,376,743 (GRCm39) V718A probably damaging Het
Ankk1 A G 9: 49,326,983 (GRCm39) V732A probably benign Het
Arfgef2 T G 2: 166,708,876 (GRCm39) F1063V probably benign Het
Ascl5 A T 1: 135,978,917 (GRCm39) I126F probably damaging Het
Aspm T A 1: 139,417,577 (GRCm39) probably null Het
Atf6b T C 17: 34,867,586 (GRCm39) S100P probably damaging Het
Baz2a C A 10: 127,959,284 (GRCm39) H1266Q possibly damaging Het
Cdh4 A T 2: 179,489,212 (GRCm39) probably benign Het
Celsr3 C G 9: 108,726,620 (GRCm39) S3283C probably damaging Het
Clca4b C T 3: 144,630,934 (GRCm39) V309M possibly damaging Het
Cnbd2 T C 2: 156,207,104 (GRCm39) Y436H probably damaging Het
Csnk1a1 T C 18: 61,718,372 (GRCm39) probably benign Het
Cstf1 C T 2: 172,222,444 (GRCm39) R401C probably damaging Het
Cul3 A G 1: 80,266,567 (GRCm39) I117T probably damaging Het
Dlgap3 A G 4: 127,088,776 (GRCm39) D124G probably damaging Het
Dnah12 A G 14: 26,431,325 (GRCm39) D381G possibly damaging Het
Dtna T C 18: 23,702,724 (GRCm39) L85P probably damaging Het
Ephb2 A G 4: 136,387,064 (GRCm39) I722T probably damaging Het
Epn3 A T 11: 94,382,822 (GRCm39) F421I probably damaging Het
Fam83f T A 15: 80,576,156 (GRCm39) L269H probably damaging Het
Fhip2a T A 19: 57,370,188 (GRCm39) H477Q probably benign Het
Gata4 G A 14: 63,439,045 (GRCm39) A139V probably benign Het
Glce T C 9: 61,975,777 (GRCm39) D241G probably benign Het
Gm17728 A T 17: 9,641,063 (GRCm39) I58F probably benign Het
Inhba A T 13: 16,201,134 (GRCm39) D232V possibly damaging Het
Itgb2l C A 16: 96,229,021 (GRCm39) R394L probably benign Het
Klhl14 T C 18: 21,690,992 (GRCm39) Y486C probably damaging Het
Krt1 A G 15: 101,758,555 (GRCm39) I203T probably damaging Het
Lims2 T C 18: 32,074,864 (GRCm39) probably null Het
Lrrc31 T G 3: 30,733,446 (GRCm39) I423L probably benign Het
Map7d1 C T 4: 126,127,015 (GRCm39) D732N unknown Het
Mau2 A T 8: 70,483,290 (GRCm39) probably null Het
Mbtps1 G A 8: 120,244,932 (GRCm39) R840W probably damaging Het
Morn3 T C 5: 123,175,745 (GRCm39) I214M probably damaging Het
Mrpl44 A G 1: 79,755,582 (GRCm39) K63E probably damaging Het
Muc20 T C 16: 32,615,042 (GRCm39) T112A possibly damaging Het
Myo6 T A 9: 80,136,159 (GRCm39) L94Q probably damaging Het
Nos1 C A 5: 118,090,942 (GRCm39) T1423K possibly damaging Het
Or2l13 A G 16: 19,305,653 (GRCm39) T22A probably benign Het
Or2t1 T C 14: 14,328,852 (GRCm38) V247A probably damaging Het
Pdzd2 T C 15: 12,385,429 (GRCm39) T1114A probably benign Het
Pgm2 T C 5: 64,263,283 (GRCm39) V310A probably benign Het
Pi4ka T C 16: 17,194,900 (GRCm39) E166G probably benign Het
Pign A T 1: 105,574,436 (GRCm39) D303E probably damaging Het
Pik3c3 G T 18: 30,415,053 (GRCm39) V149L probably benign Het
Pkd1l3 A T 8: 110,365,026 (GRCm39) Y1126F probably benign Het
Pkd2l1 T A 19: 44,142,210 (GRCm39) Q516L probably benign Het
Pnliprp2 C A 19: 58,759,853 (GRCm39) Q355K probably benign Het
Pnpla7 T A 2: 24,943,688 (GRCm39) Y1314* probably null Het
Ppp1r1b A G 11: 98,246,170 (GRCm39) T51A possibly damaging Het
Prkcd A T 14: 30,321,382 (GRCm39) S544T probably damaging Het
Pusl1 G A 4: 155,973,998 (GRCm39) T252I probably benign Het
Rnf44 A G 13: 54,829,745 (GRCm39) probably null Het
Slc24a2 A T 4: 87,145,145 (GRCm39) V303E probably damaging Het
Slc28a2 T A 2: 122,285,697 (GRCm39) probably null Het
Sox8 T C 17: 25,787,963 (GRCm39) D162G probably damaging Het
Spag1 T C 15: 36,197,992 (GRCm39) probably null Het
Taar6 T C 10: 23,861,298 (GRCm39) I83V probably benign Het
Tes T A 6: 17,104,595 (GRCm39) C359S probably damaging Het
Vmn2r4 A T 3: 64,313,676 (GRCm39) L435H probably damaging Het
Zfhx3 G T 8: 109,683,639 (GRCm39) D3693Y unknown Het
Zfp931 G A 2: 177,709,996 (GRCm39) P130L probably damaging Het
Zfr T G 15: 12,136,628 (GRCm39) V95G unknown Het
Zw10 A G 9: 48,985,325 (GRCm39) E587G possibly 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
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
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'- ATCACCATTGTCTCACTGATTAAGG -3'
(R):5'- GTGAAGCTGTCTACACACCCAG -3'

Sequencing Primer
(F):5'- CATTGTCTCACTGATTAAGGTAAAGG -3'
(R):5'- ACACCCAGTGTTGCGTCTG -3'
Posted On 2016-03-17