Incidental Mutation 'R0132:Anxa5'
ID 21674
Institutional Source Beutler Lab
Gene Symbol Anxa5
Ensembl Gene ENSMUSG00000027712
Gene Name annexin A5
Synonyms annexin V, Anx5
MMRRC Submission 038417-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0132 (G1)
Quality Score 165
Status Validated (trace)
Chromosome 3
Chromosomal Location 36503072-36530036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36504821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 247 (A247V)
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: A247V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029266
Gene: ENSMUSG00000027712
AA Change: A247V

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
Meta Mutation Damage Score 0.0958 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.9%
  • 10x: 94.2%
  • 20x: 84.8%
Validation Efficiency 90% (52/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,258,197 (GRCm39) I773T probably benign Het
Adamtsl1 T A 4: 86,260,960 (GRCm39) I1057N possibly damaging Het
Ascc3 T G 10: 50,611,425 (GRCm39) W1589G probably damaging Het
Atp2b2 G A 6: 113,770,743 (GRCm39) P389S probably damaging Het
Bpifa6 T A 2: 153,824,851 (GRCm39) S9T probably benign Het
Cfhr4 T A 1: 139,682,009 (GRCm39) T196S probably damaging Het
Chd8 A G 14: 52,442,783 (GRCm39) V589A probably benign Het
Chrnb2 T C 3: 89,671,713 (GRCm39) M1V probably null Het
Col16a1 T A 4: 129,960,889 (GRCm39) V449E unknown Het
Cttnbp2nl T G 3: 104,913,173 (GRCm39) K237T probably damaging Het
Dazap1 T G 10: 80,114,060 (GRCm39) probably null Het
Fam187b T A 7: 30,688,545 (GRCm39) V22E probably damaging Het
Fcgbpl1 A G 7: 27,837,040 (GRCm39) R320G probably damaging Het
H2-T24 T A 17: 36,325,878 (GRCm39) I238F probably damaging Het
Hectd4 A G 5: 121,471,087 (GRCm39) E2658G probably benign Het
Herc1 A C 9: 66,388,192 (GRCm39) I3826L probably benign Het
Hinfp A G 9: 44,211,060 (GRCm39) C67R probably damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Hspg2 T C 4: 137,279,198 (GRCm39) Y3094H probably damaging Het
Htr1f A G 16: 64,747,091 (GRCm39) V67A probably damaging Het
Iqcc T G 4: 129,510,392 (GRCm39) E374D probably damaging Het
Kcnj9 T C 1: 172,153,765 (GRCm39) T120A probably damaging Het
Kitl C T 10: 99,923,226 (GRCm39) P208S probably benign Het
Lpcat4 A G 2: 112,077,093 (GRCm39) Y479C probably damaging Het
Lrrc74b T C 16: 17,371,016 (GRCm39) N227S probably damaging Het
Mdc1 T A 17: 36,163,473 (GRCm39) V1007D probably damaging Het
Mocos T G 18: 24,812,819 (GRCm39) I571S probably benign Het
Myh8 A G 11: 67,183,014 (GRCm39) N659D probably damaging Het
Naip2 A G 13: 100,320,296 (GRCm39) V240A probably benign Het
Nap1l1 T C 10: 111,321,370 (GRCm39) S37P probably benign Het
Nin T G 12: 70,097,915 (GRCm39) K515T probably damaging Het
Npl T A 1: 153,384,864 (GRCm39) K258* probably null Het
Ntn4 T A 10: 93,480,569 (GRCm39) S98T possibly damaging Het
Or10x1 T C 1: 174,197,152 (GRCm39) V223A probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5k14 C A 16: 58,693,269 (GRCm39) M81I probably benign Het
Ppox C A 1: 171,106,849 (GRCm39) A192S possibly damaging Het
Prkdc T C 16: 15,531,517 (GRCm39) L1380S probably benign Het
Psd4 C A 2: 24,295,363 (GRCm39) A839E probably damaging Het
Ptprn2 T G 12: 116,685,711 (GRCm39) F57V probably damaging Het
Ptprt C T 2: 162,120,030 (GRCm39) V146I probably benign Het
R3hdm2 T A 10: 127,334,322 (GRCm39) M915K probably damaging Het
Rab26 C T 17: 24,749,759 (GRCm39) probably null Het
Rnf213 A G 11: 119,321,187 (GRCm39) E1215G probably benign Het
Rprd2 T C 3: 95,681,673 (GRCm39) K407E probably damaging Het
Siah3 G A 14: 75,693,574 (GRCm39) V27I possibly damaging Het
Slc14a2 T A 18: 78,235,338 (GRCm39) N280Y probably damaging Het
Slc25a35 A G 11: 68,862,786 (GRCm39) Y247C probably damaging Het
Slc29a4 A G 5: 142,691,285 (GRCm39) D55G probably benign Het
Slc35d1 C T 4: 103,065,378 (GRCm39) V189I probably benign Het
Srrm1 G A 4: 135,067,884 (GRCm39) R322* probably null Het
Stac3 A T 10: 127,339,519 (GRCm39) R138S probably damaging Het
Tmem260 T A 14: 48,720,779 (GRCm39) C306* probably null Het
Tspyl1 A G 10: 34,159,085 (GRCm39) N270S probably damaging Het
Ugt2a2 T A 5: 87,622,720 (GRCm39) K293* probably null Het
Vmn2r102 A C 17: 19,899,025 (GRCm39) T456P probably benign Het
Vmn2r90 T A 17: 17,932,511 (GRCm39) S139R probably benign Het
Zmym2 A G 14: 57,180,715 (GRCm39) N876D probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GGTGGCGAAGTTCTTCCTAAACTCC -3'
(R):5'- TGCAGGGCACCTCACTTTTACAC -3'

Sequencing Primer
(F):5'- CAAATGCCCCTGGTTTGAG -3'
(R):5'- CTCACTTTTACACTTAGAAGCAGAGC -3'
Posted On 2013-04-11