Incidental Mutation 'IGL02686:Anxa5'
ID 303556
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 # IGL02686
Quality Score
Status
Chromosome 3
Chromosomal Location 36503072-36530036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36503504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 317 (E317K)
Ref Sequence ENSEMBL: ENSMUSP00000029266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029266] [ENSMUST00000199478]
AlphaFold P48036
Predicted Effect probably benign
Transcript: ENSMUST00000029266
AA Change: E317K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029266
Gene: ENSMUSG00000027712
AA Change: E317K

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 probably benign
Transcript: ENSMUST00000199478
SMART Domains Protein: ENSMUSP00000143650
Gene: ENSMUSG00000027712

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 C T 12: 81,468,448 (GRCm39) G58S possibly damaging Het
Adcyap1r1 G A 6: 55,458,110 (GRCm39) A304T probably benign Het
Adipoq A G 16: 22,975,865 (GRCm39) T110A possibly damaging Het
Ago2 T C 15: 72,985,591 (GRCm39) Y668C possibly damaging Het
Ampd2 A T 3: 107,983,811 (GRCm39) D575E possibly damaging Het
Atf2 A T 2: 73,675,844 (GRCm39) M169K possibly damaging Het
Bicc1 C A 10: 70,779,190 (GRCm39) probably benign Het
Bicra A G 7: 15,721,840 (GRCm39) M559T probably benign Het
Bltp3a T C 17: 28,113,563 (GRCm39) I1245T probably benign Het
Bltp3b A T 10: 89,641,055 (GRCm39) Q742L probably benign Het
Cacna1e G A 1: 154,369,155 (GRCm39) A294V probably damaging Het
Cacna1h G A 17: 25,604,723 (GRCm39) P1197S possibly damaging Het
Cmya5 G A 13: 93,227,505 (GRCm39) Q2528* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cts8 T C 13: 61,398,784 (GRCm39) T241A probably benign Het
Cubn T C 2: 13,330,037 (GRCm39) I2615V possibly damaging Het
Cxcl12 A G 6: 117,150,546 (GRCm39) probably benign Het
Fig4 T C 10: 41,140,000 (GRCm39) D307G probably damaging Het
Flt1 T C 5: 147,525,412 (GRCm39) I909V probably damaging Het
Foxk1 T A 5: 142,439,340 (GRCm39) S427T probably damaging Het
Gosr1 G A 11: 76,641,688 (GRCm39) T130M probably benign Het
Grik1 G T 16: 87,806,649 (GRCm39) probably null Het
Hipk1 C T 3: 103,685,333 (GRCm39) S94N possibly damaging Het
Ints7 T C 1: 191,318,704 (GRCm39) L147P probably damaging Het
Nsd3 A G 8: 26,156,086 (GRCm39) D551G probably damaging Het
Or11g25 G A 14: 50,723,426 (GRCm39) M170I probably benign Het
Or5p81 A T 7: 108,267,093 (GRCm39) I157F probably benign Het
Prrc2c T C 1: 162,535,516 (GRCm39) probably benign Het
Ren1 A T 1: 133,286,207 (GRCm39) N250I possibly damaging Het
Ripply2 A C 9: 86,898,009 (GRCm39) probably benign Het
Ryr1 G T 7: 28,768,975 (GRCm39) probably benign Het
Smad3 T A 9: 63,575,064 (GRCm39) K51M probably damaging Het
Snapc1 C A 12: 74,011,370 (GRCm39) probably benign Het
Srfbp1 T G 18: 52,608,726 (GRCm39) V42G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tab1 T C 15: 80,033,031 (GRCm39) V105A probably benign Het
Tat T C 8: 110,723,481 (GRCm39) V323A probably damaging Het
Tdo2 T C 3: 81,875,462 (GRCm39) N164S probably benign Het
Tefm T A 11: 80,027,722 (GRCm39) L345F probably damaging Het
Tmem145 C A 7: 25,014,150 (GRCm39) N407K probably damaging Het
Vmn2r116 A G 17: 23,607,767 (GRCm39) N445S probably damaging Het
Vmn2r20 A G 6: 123,362,585 (GRCm39) M733T probably benign Het
Vmn2r93 G A 17: 18,533,526 (GRCm39) V477M possibly damaging Het
Zdhhc4 A G 5: 143,306,146 (GRCm39) F194S probably damaging Het
Zfp738 A T 13: 67,821,771 (GRCm39) S25T probably damaging Het
Other mutations in Anxa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Anxa5 APN 3 36,511,646 (GRCm39) missense possibly damaging 0.85
IGL02125:Anxa5 APN 3 36,506,413 (GRCm39) missense probably damaging 1.00
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