Incidental Mutation 'R0376:Anxa5'
ID 30735
Institutional Source Beutler Lab
Gene Symbol Anxa5
Ensembl Gene ENSMUSG00000027712
Gene Name annexin A5
Synonyms annexin V, Anx5
MMRRC Submission 038582-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0376 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 36503072-36530036 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36514637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 115 (R115G)
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: R115G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029266
Gene: ENSMUSG00000027712
AA Change: R115G

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 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 0.9456 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 100% (58/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T C 12: 113,508,310 (GRCm39) Y228H probably damaging Het
Als2 A G 1: 59,254,724 (GRCm39) F211S probably benign Het
Ankrd12 T A 17: 66,360,004 (GRCm39) Q11L probably damaging Het
Arhgap10 T C 8: 78,177,453 (GRCm39) probably benign Het
Atp2a3 T A 11: 72,873,528 (GRCm39) D782E probably damaging Het
Bcr G T 10: 74,981,159 (GRCm39) L659F probably damaging Het
Cacna1b A G 2: 24,549,015 (GRCm39) probably benign Het
Camp C T 9: 109,677,467 (GRCm39) C122Y probably damaging Het
Cimip1 G A 2: 173,370,120 (GRCm39) E132K probably benign Het
Col12a1 A T 9: 79,600,776 (GRCm39) S769R probably benign Het
Cyp2j6 T A 4: 96,414,260 (GRCm39) K335I probably damaging Het
Cyp3a11 A C 5: 145,799,262 (GRCm39) Y308* probably null Het
Flnb G A 14: 7,946,014 (GRCm38) probably null Het
Frmd4a G T 2: 4,577,198 (GRCm39) M351I probably damaging Het
Gabrg2 C T 11: 41,807,142 (GRCm39) S365N possibly damaging Het
Ggn T C 7: 28,872,447 (GRCm39) V609A possibly damaging Het
H60c T C 10: 3,210,435 (GRCm39) probably benign Het
Hexd T A 11: 121,108,991 (GRCm39) probably benign Het
Igsf9b A G 9: 27,245,878 (GRCm39) T1282A probably benign Het
Ikzf4 T C 10: 128,468,625 (GRCm39) N618S probably benign Het
Ints14 A G 9: 64,891,272 (GRCm39) K418E probably damaging Het
Iqgap1 T C 7: 80,373,627 (GRCm39) E1454G probably benign Het
Kif13b T C 14: 64,994,853 (GRCm39) probably benign Het
Krt71 A C 15: 101,646,505 (GRCm39) F328C probably damaging Het
Lama2 T C 10: 26,891,542 (GRCm39) T2524A possibly damaging Het
Mfn2 C T 4: 147,969,983 (GRCm39) V363I probably benign Het
Mkln1 A T 6: 31,454,953 (GRCm39) D496V probably benign Het
Or2q1 A T 6: 42,795,226 (GRCm39) M274L probably benign Het
Patj T A 4: 98,457,224 (GRCm39) I1242N probably damaging Het
Pcnx1 C T 12: 82,021,353 (GRCm39) probably benign Het
Plcb2 T C 2: 118,547,721 (GRCm39) E502G probably damaging Het
Plppr4 G T 3: 117,116,740 (GRCm39) H314Q probably benign Het
Prkcsh A G 9: 21,921,547 (GRCm39) probably benign Het
Prr14 C T 7: 127,075,815 (GRCm39) H181Y probably benign Het
Pus3 A T 9: 35,477,718 (GRCm39) M317L possibly damaging Het
Pwwp2a T A 11: 43,595,499 (GRCm39) D221E probably benign Het
Rbm15 T C 3: 107,238,254 (GRCm39) S715G probably benign Het
Rbm28 A G 6: 29,158,927 (GRCm39) probably benign Het
Rhobtb2 A T 14: 70,034,184 (GRCm39) V347E probably benign Het
Rimbp2 C T 5: 128,880,925 (GRCm39) R161Q probably damaging Het
Scgb1b27 C T 7: 33,721,322 (GRCm39) T70I possibly damaging Het
Slc40a1 T C 1: 45,951,651 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spaca9 A G 2: 28,583,672 (GRCm39) V104A probably benign Het
Spag7 T C 11: 70,560,016 (GRCm39) probably benign Het
Sugp1 A G 8: 70,505,288 (GRCm39) D85G probably damaging Het
Sun1 A G 5: 139,212,454 (GRCm39) probably benign Het
Tcp11l1 C A 2: 104,527,850 (GRCm39) probably benign Het
Tead3 A C 17: 28,560,339 (GRCm39) D88E probably damaging Het
Tecpr1 A T 5: 144,144,294 (GRCm39) V636E possibly damaging Het
Tldc2 T C 2: 156,937,225 (GRCm39) W147R probably damaging Het
Tmem161b A G 13: 84,440,502 (GRCm39) T125A probably benign Het
Trrap A G 5: 144,753,149 (GRCm39) M1825V probably benign Het
Ttbk2 A G 2: 120,608,062 (GRCm39) F186L probably damaging Het
U2surp C T 9: 95,366,496 (GRCm39) V470I probably benign Het
Zc3h7a T C 16: 10,974,066 (GRCm39) M240V probably benign Het
Zc3hc1 G C 6: 30,372,789 (GRCm39) S351W probably damaging Het
Zfp366 T C 13: 99,370,759 (GRCm39) M493T probably benign Het
Zfp93 C T 7: 23,975,286 (GRCm39) P424S 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
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
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'- AACCTGCATCTCCCTTCAGGCATTG -3'
(R):5'- TATTGGCTCTTGCCCGCAGCTAACTG -3'

Sequencing Primer
(F):5'- ATTTAAGTGCTAGGAGTGAAATGGTG -3'
(R):5'- ggcaggaagcaggcatag -3'
Posted On 2013-04-24