Incidental Mutation 'IGL02125:Anxa5'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa5
Ensembl Gene ENSMUSG00000027712
Gene Nameannexin A5
SynonymsAnx5, annexin V
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02125
Quality Score
Chromosomal Location36448923-36475894 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36452264 bp
Amino Acid Change Threonine to Isoleucine at position 213 (T213I)
Ref Sequence ENSEMBL: ENSMUSP00000029266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029266] [ENSMUST00000199478]
Predicted Effect probably damaging
Transcript: ENSMUST00000029266
AA Change: T213I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029266
Gene: ENSMUSG00000027712
AA Change: T213I

ANX 30 82 1.65e-24 SMART
ANX 102 154 4.52e-22 SMART
ANX 186 238 3.54e-15 SMART
ANX 261 313 4.52e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196097
Predicted Effect possibly damaging
Transcript: ENSMUST00000199478
AA Change: T118I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143650
Gene: ENSMUSG00000027712
AA Change: T118I

ANX 30 90 4.8e-5 SMART
ANX 91 137 4.9e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable, fertile, and develop normally. Bone development and maintenance are normal, as are clinical-chemical parameters. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik T C 5: 5,450,644 *151W probably null Het
Adam29 A T 8: 55,871,939 C493* probably null Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd12 A G 17: 65,970,144 probably benign Het
Baz2b A G 2: 59,968,640 L380S probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cacna2d2 C T 9: 107,513,904 Q411* probably null Het
Cdh19 A G 1: 110,929,884 V240A possibly damaging Het
Cltc A T 11: 86,704,810 probably benign Het
Dclk3 T A 9: 111,469,107 V573E probably damaging Het
Dhx29 T C 13: 112,955,300 probably benign Het
Dip2b T C 15: 100,186,250 L918P possibly damaging Het
Dzip3 A T 16: 48,927,596 N1150K probably damaging Het
Fgf5 T C 5: 98,254,532 S41P possibly damaging Het
Galc A T 12: 98,231,509 Y120N probably damaging Het
Gldc T C 19: 30,147,241 N219S probably benign Het
Gm11563 A T 11: 99,658,805 V41E unknown Het
Gm597 T C 1: 28,776,338 N871S possibly damaging Het
Gpatch11 T A 17: 78,840,109 N106K probably benign Het
Gpx3 A G 11: 54,907,242 N68S probably damaging Het
Ibtk T C 9: 85,735,070 N150D probably damaging Het
Iglc2 G A 16: 19,198,712 P48S probably benign Het
Itih5 G A 2: 10,240,987 R629H probably benign Het
Kank1 T A 19: 25,410,703 V552E possibly damaging Het
Kmt2a T A 9: 44,848,686 H655L probably damaging Het
Mkl2 A G 16: 13,400,183 probably null Het
Mme A T 3: 63,348,649 N510I probably damaging Het
Obscn A G 11: 59,022,362 I6943T probably damaging Het
Obscn G T 11: 59,093,326 Q1768K possibly damaging Het
Olfr209 T C 16: 59,361,516 N234S probably benign Het
Olfr633 T A 7: 103,947,072 C169S probably damaging Het
Otud3 A T 4: 138,896,714 probably null Het
Parp4 A G 14: 56,590,502 K237E probably benign Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Rbbp6 T C 7: 122,971,129 probably null Het
Rdh16 G T 10: 127,811,319 probably benign Het
Ropn1 A G 16: 34,666,777 T28A probably benign Het
Sec24d T C 3: 123,358,958 V873A probably damaging Het
Serpinb3b T A 1: 107,154,744 L263F probably damaging Het
Shq1 T C 6: 100,631,006 T315A probably benign Het
Slc13a4 T C 6: 35,278,288 E355G probably benign Het
Slc26a9 T C 1: 131,759,437 S445P probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc4a10 A T 2: 62,268,171 M550L probably benign Het
Syt17 T C 7: 118,409,974 D341G probably benign Het
Tmem62 A G 2: 120,996,512 Y430C probably benign Het
Upp1 A G 11: 9,125,650 probably benign Het
Vmn1r91 T G 7: 20,101,504 V116G probably damaging Het
Vmn2r101 A T 17: 19,589,701 I250F possibly damaging Het
Vmn2r116 T G 17: 23,397,627 probably benign Het
Vmn2r72 C T 7: 85,750,711 V377I probably benign Het
Zfp592 G T 7: 81,038,184 A953S probably benign Het
Other mutations in Anxa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Anxa5 APN 3 36457497 missense possibly damaging 0.85
IGL02686:Anxa5 APN 3 36449355 missense probably benign 0.19
IGL03268:Anxa5 APN 3 36450679 missense probably benign
R0131:Anxa5 UTSW 3 36450672 missense probably damaging 0.96
R0131:Anxa5 UTSW 3 36450672 missense probably damaging 0.96
R0132:Anxa5 UTSW 3 36450672 missense probably damaging 0.96
R0365:Anxa5 UTSW 3 36457469 missense probably damaging 0.98
R0376:Anxa5 UTSW 3 36460488 missense probably damaging 1.00
R1393:Anxa5 UTSW 3 36453509 missense probably damaging 1.00
R1424:Anxa5 UTSW 3 36452292 splice site probably null
R1626:Anxa5 UTSW 3 36461981 missense probably damaging 1.00
R1778:Anxa5 UTSW 3 36465331 missense probably damaging 0.97
R1873:Anxa5 UTSW 3 36449402 missense probably damaging 1.00
R3861:Anxa5 UTSW 3 36450658 missense probably benign 0.36
R4076:Anxa5 UTSW 3 36450380 missense probably benign
R5871:Anxa5 UTSW 3 36452249 missense possibly damaging 0.94
R6018:Anxa5 UTSW 3 36450658 missense probably benign 0.36
R6056:Anxa5 UTSW 3 36450691 missense probably damaging 0.98
R6081:Anxa5 UTSW 3 36465287 missense probably damaging 1.00
R6522:Anxa5 UTSW 3 36465302 missense probably damaging 1.00
R7748:Anxa5 UTSW 3 36465331 missense probably damaging 0.97
Posted On2015-04-16