Incidental Mutation 'IGL02125:Anxa5'
ID 280796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Anxa5
Ensembl Gene ENSMUSG00000027712
Gene Name annexin A5
Synonyms annexin V, Anx5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02125
Quality Score
Status
Chromosome 3
Chromosomal Location 36503072-36530036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36506413 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P48036
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Adam29 A T 8: 56,324,974 (GRCm39) C493* probably null Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Ankrd12 A G 17: 66,277,139 (GRCm39) probably benign Het
Baz2b A G 2: 59,798,984 (GRCm39) L380S probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cacna2d2 C T 9: 107,391,103 (GRCm39) Q411* probably null Het
Cdh19 A G 1: 110,857,614 (GRCm39) V240A possibly damaging Het
Cltc A T 11: 86,595,636 (GRCm39) probably benign Het
Dclk3 T A 9: 111,298,175 (GRCm39) V573E probably damaging Het
Dhx29 T C 13: 113,091,834 (GRCm39) probably benign Het
Dip2b T C 15: 100,084,131 (GRCm39) L918P possibly damaging Het
Dzip3 A T 16: 48,747,959 (GRCm39) N1150K probably damaging Het
Fgf5 T C 5: 98,402,391 (GRCm39) S41P possibly damaging Het
Galc A T 12: 98,197,768 (GRCm39) Y120N probably damaging Het
Gldc T C 19: 30,124,641 (GRCm39) N219S probably benign Het
Gm11563 A T 11: 99,549,631 (GRCm39) V41E unknown Het
Gpatch11 T A 17: 79,147,538 (GRCm39) N106K probably benign Het
Gpx3 A G 11: 54,798,068 (GRCm39) N68S probably damaging Het
Ibtk T C 9: 85,617,123 (GRCm39) N150D probably damaging Het
Iglc2 G A 16: 19,017,462 (GRCm39) P48S probably benign Het
Itih5 G A 2: 10,245,798 (GRCm39) R629H probably benign Het
Kank1 T A 19: 25,388,067 (GRCm39) V552E possibly damaging Het
Kmt2a T A 9: 44,759,983 (GRCm39) H655L probably damaging Het
Mme A T 3: 63,256,070 (GRCm39) N510I probably damaging Het
Mrtfb A G 16: 13,218,047 (GRCm39) probably null Het
Obscn G T 11: 58,984,152 (GRCm39) Q1768K possibly damaging Het
Obscn A G 11: 58,913,188 (GRCm39) I6943T probably damaging Het
Or51k2 T A 7: 103,596,279 (GRCm39) C169S probably damaging Het
Or5ac25 T C 16: 59,181,879 (GRCm39) N234S probably benign Het
Otud3 A T 4: 138,624,025 (GRCm39) probably null Het
Parp4 A G 14: 56,827,959 (GRCm39) K237E probably benign Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pttg1ip2 T C 5: 5,500,644 (GRCm39) *151W probably null Het
Rbbp6 T C 7: 122,570,352 (GRCm39) probably null Het
Rdh16 G T 10: 127,647,188 (GRCm39) probably benign Het
Ropn1 A G 16: 34,487,147 (GRCm39) T28A probably benign Het
Sec24d T C 3: 123,152,607 (GRCm39) V873A probably damaging Het
Serpinb3b T A 1: 107,082,474 (GRCm39) L263F probably damaging Het
Shq1 T C 6: 100,607,967 (GRCm39) T315A probably benign Het
Slc13a4 T C 6: 35,255,223 (GRCm39) E355G probably benign Het
Slc26a9 T C 1: 131,687,175 (GRCm39) S445P probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc4a10 A T 2: 62,098,515 (GRCm39) M550L probably benign Het
Spata31e5 T C 1: 28,815,419 (GRCm39) N871S possibly damaging Het
Syt17 T C 7: 118,009,197 (GRCm39) D341G probably benign Het
Tmem62 A G 2: 120,826,993 (GRCm39) Y430C probably benign Het
Upp1 A G 11: 9,075,650 (GRCm39) probably benign Het
Vmn1r91 T G 7: 19,835,429 (GRCm39) V116G probably damaging Het
Vmn2r101 A T 17: 19,809,963 (GRCm39) I250F possibly damaging Het
Vmn2r116 T G 17: 23,616,601 (GRCm39) probably benign Het
Vmn2r72 C T 7: 85,399,919 (GRCm39) V377I probably benign Het
Zfp592 G T 7: 80,687,932 (GRCm39) A953S probably benign Het
Other mutations in Anxa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Anxa5 APN 3 36,511,646 (GRCm39) missense possibly damaging 0.85
IGL02686:Anxa5 APN 3 36,503,504 (GRCm39) missense probably benign 0.19
IGL03268:Anxa5 APN 3 36,504,828 (GRCm39) missense probably benign
R0131:Anxa5 UTSW 3 36,504,821 (GRCm39) missense probably damaging 0.96
R0131:Anxa5 UTSW 3 36,504,821 (GRCm39) missense probably damaging 0.96
R0132:Anxa5 UTSW 3 36,504,821 (GRCm39) missense probably damaging 0.96
R0365:Anxa5 UTSW 3 36,511,618 (GRCm39) missense probably damaging 0.98
R0376:Anxa5 UTSW 3 36,514,637 (GRCm39) missense probably damaging 1.00
R1393:Anxa5 UTSW 3 36,507,658 (GRCm39) missense probably damaging 1.00
R1424:Anxa5 UTSW 3 36,506,441 (GRCm39) splice site probably null
R1626:Anxa5 UTSW 3 36,516,130 (GRCm39) missense probably damaging 1.00
R1778:Anxa5 UTSW 3 36,519,480 (GRCm39) missense probably damaging 0.97
R1873:Anxa5 UTSW 3 36,503,551 (GRCm39) missense probably damaging 1.00
R3861:Anxa5 UTSW 3 36,504,807 (GRCm39) missense probably benign 0.36
R4076:Anxa5 UTSW 3 36,504,529 (GRCm39) missense probably benign
R5871:Anxa5 UTSW 3 36,506,398 (GRCm39) missense possibly damaging 0.94
R6018:Anxa5 UTSW 3 36,504,807 (GRCm39) missense probably benign 0.36
R6056:Anxa5 UTSW 3 36,504,840 (GRCm39) missense probably damaging 0.98
R6081:Anxa5 UTSW 3 36,519,436 (GRCm39) missense probably damaging 1.00
R6522:Anxa5 UTSW 3 36,519,451 (GRCm39) missense probably damaging 1.00
R7748:Anxa5 UTSW 3 36,519,480 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16