Incidental Mutation 'R3547:Antxr2'
ID 268244
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 040666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R3547 (G1)
Quality Score 178
Status Validated
Chromosome 5
Chromosomal Location 98032547-98178876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98125516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 247 (I247N)
Ref Sequence ENSEMBL: ENSMUSP00000142605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031281] [ENSMUST00000199088]
AlphaFold Q6DFX2
Predicted Effect probably benign
Transcript: ENSMUST00000031281
AA Change: I247N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000031281
Gene: ENSMUSG00000029338
AA Change: I247N

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 benign
Transcript: ENSMUST00000199088
AA Change: I247N

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142605
Gene: ENSMUSG00000029338
AA Change: I247N

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg5 A G 3: 54,656,736 (GRCm39) R316G probably benign Het
Anapc1 T C 2: 128,484,602 (GRCm39) N1121D possibly damaging Het
Arid5b C T 10: 67,934,292 (GRCm39) G294S probably benign Het
Arl9 A G 5: 77,158,326 (GRCm39) D136G probably benign Het
Atxn1l A G 8: 110,458,981 (GRCm39) L427P possibly damaging Het
Celf3 T G 3: 94,395,845 (GRCm39) C304G probably damaging Het
Clcc1 T A 3: 108,575,429 (GRCm39) C169S probably benign Het
Clec4a3 A G 6: 122,941,239 (GRCm39) E78G probably damaging Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Col12a1 T G 9: 79,540,698 (GRCm39) K2429T probably damaging Het
Col20a1 G T 2: 180,636,704 (GRCm39) E228D probably damaging Het
Cx3cl1 A C 8: 95,504,752 (GRCm39) E56A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fap A C 2: 62,349,355 (GRCm39) L478R probably damaging Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Golga7b T C 19: 42,255,510 (GRCm39) M129T possibly damaging Het
Gpr149 A T 3: 62,502,549 (GRCm39) C436S probably benign Het
Grid2 T C 6: 64,297,005 (GRCm39) V456A probably damaging Het
Gstcd G T 3: 132,790,599 (GRCm39) T56K possibly damaging Het
Hydin G A 8: 111,308,699 (GRCm39) G3995D possibly damaging Het
Igkv4-50 G A 6: 69,677,765 (GRCm39) T113I probably benign Het
Igkv5-43 A G 6: 69,753,240 (GRCm39) probably benign Het
Igsf10 G A 3: 59,237,962 (GRCm39) H740Y probably benign Het
Igsf10 C A 3: 59,243,935 (GRCm39) R133L probably damaging Het
Lcmt1 A G 7: 122,999,702 (GRCm39) E94G probably benign Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Ly6m C A 15: 74,753,463 (GRCm39) A18S probably null Het
Map3k3 C T 11: 106,033,379 (GRCm39) Q211* probably null Het
Map4 T A 9: 109,881,266 (GRCm39) F43L possibly damaging Het
Mcf2 T C X: 59,180,806 (GRCm39) K74R probably damaging Het
Mylk G A 16: 34,700,538 (GRCm39) V460I possibly damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nlrp6 T G 7: 140,506,682 (GRCm39) V849G probably benign Het
Or52b3 A G 7: 102,203,677 (GRCm39) Y62C probably damaging Het
Pi4k2a C T 19: 42,078,987 (GRCm39) P16L probably benign Het
Pitx3 T A 19: 46,124,548 (GRCm39) Q273L possibly damaging Het
Ppp1r27 T A 11: 120,441,511 (GRCm39) I90F probably damaging Het
Prickle2 T C 6: 92,388,118 (GRCm39) Y428C probably damaging Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Prune2 T A 19: 17,101,712 (GRCm39) S2405R probably damaging Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rnf167 T C 11: 70,540,507 (GRCm39) I129T possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfxn2 T C 19: 46,578,635 (GRCm39) S217P probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Slc22a17 A G 14: 55,144,694 (GRCm39) L573P probably damaging Het
Slc25a45 T C 19: 5,934,574 (GRCm39) Y181H probably damaging Het
Slc6a20a A G 9: 123,489,567 (GRCm39) S159P probably damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Thnsl1 T G 2: 21,217,438 (GRCm39) D397E probably benign Het
Ttn T A 2: 76,575,450 (GRCm39) I25148F probably damaging Het
Ube4b T C 4: 149,419,573 (GRCm39) D1045G probably damaging Het
Ugt8a A T 3: 125,661,031 (GRCm39) L487* probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P probably benign Het
Utp20 T C 10: 88,618,551 (GRCm39) K1150E probably damaging Het
Uty A C Y: 1,158,512 (GRCm39) D463E possibly damaging Het
Vmn1r7 A G 6: 57,001,834 (GRCm39) I142T possibly damaging Het
Vps13d T G 4: 144,801,545 (GRCm39) T3558P probably damaging Het
Zfp319 A G 8: 96,055,445 (GRCm39) S253P probably damaging Het
Zfp831 A G 2: 174,499,476 (GRCm39) S1265G 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
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'- GTCATGAGCAAGTATTACCTCTATG -3'
(R):5'- TCGAGTGCGGAAATATGTGC -3'

Sequencing Primer
(F):5'- TCTCTGCAGACACTAGGCAC -3'
(R):5'- TGGTTACAGGCTCACCTT -3'
Posted On 2015-02-19