Incidental Mutation 'R5230:Anxa3'
ID 403706
Institutional Source Beutler Lab
Gene Symbol Anxa3
Ensembl Gene ENSMUSG00000029484
Gene Name annexin A3
Synonyms Anx3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5230 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 96941244-96993827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96986171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 270 (F270S)
Ref Sequence ENSEMBL: ENSMUSP00000031447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031447] [ENSMUST00000196126]
AlphaFold O35639
Predicted Effect possibly damaging
Transcript: ENSMUST00000031447
AA Change: F270S

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031447
Gene: ENSMUSG00000029484
AA Change: F270S

DomainStartEndE-ValueType
ANX 35 87 5.74e-24 SMART
ANX 107 159 1.67e-25 SMART
ANX 191 243 3.67e-22 SMART
ANX 266 318 2.87e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199656
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,651,820 (GRCm39) N1296S probably damaging Het
Abca5 A T 11: 110,210,686 (GRCm39) D164E probably benign Het
Adamts5 T C 16: 85,666,956 (GRCm39) D512G probably damaging Het
Ankrd11 G A 8: 123,617,216 (GRCm39) T2191I probably benign Het
Bard1 A G 1: 71,092,770 (GRCm39) probably null Het
Ccdc142 T C 6: 83,084,777 (GRCm39) V591A probably damaging Het
Col6a3 C T 1: 90,716,776 (GRCm39) E1613K unknown Het
Dnah9 T A 11: 65,975,492 (GRCm39) H1519L probably damaging Het
Egf T C 3: 129,511,673 (GRCm39) D498G possibly damaging Het
Enah A C 1: 181,763,235 (GRCm39) probably benign Het
Fat3 A T 9: 15,901,856 (GRCm39) N3056K possibly damaging Het
Gm4846 T A 1: 166,317,748 (GRCm39) N223Y probably benign Het
Gm8104 A G 14: 42,958,975 (GRCm39) N55S probably damaging Het
Gpatch8 A G 11: 102,370,404 (GRCm39) S1045P probably damaging Het
Haus4 A G 14: 54,781,251 (GRCm39) M275T probably benign Het
Ighe T A 12: 113,235,006 (GRCm39) T385S unknown Het
Ipo9 G A 1: 135,347,808 (GRCm39) S78L probably damaging Het
Kif21b G A 1: 136,099,411 (GRCm39) V1473M probably damaging Het
Lama1 T A 17: 68,052,078 (GRCm39) Y345* probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Loxl3 A G 6: 83,012,775 (GRCm39) T105A probably benign Het
Map4k3 A G 17: 80,922,599 (GRCm39) S441P probably benign Het
Med12l C T 3: 59,153,209 (GRCm39) T1078I probably damaging Het
Mef2c T A 13: 83,801,026 (GRCm39) M242K possibly damaging Het
Morc2b A G 17: 33,355,226 (GRCm39) Y849H probably benign Het
Mroh2b T A 15: 4,971,004 (GRCm39) V1003E probably benign Het
Myo15a T A 11: 60,393,674 (GRCm39) M1135K possibly damaging Het
Nckap1l A T 15: 103,392,066 (GRCm39) I834F probably benign Het
Nrg1 T A 8: 32,308,507 (GRCm39) Y503F probably damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or4f61 A T 2: 111,922,734 (GRCm39) I104N probably benign Het
Pcdhga2 T C 18: 37,802,795 (GRCm39) V213A probably benign Het
Pdzd2 A T 15: 12,390,119 (GRCm39) M826K probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Rnf38 T C 4: 44,149,176 (GRCm39) Q57R probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serpina6 T C 12: 103,618,157 (GRCm39) T219A probably benign Het
Spata31d1c T A 13: 65,183,248 (GRCm39) N263K probably benign Het
Spef2 T G 15: 9,667,316 (GRCm39) I791L possibly damaging Het
Sv2a T C 3: 96,092,776 (GRCm39) C159R probably damaging Het
Tbc1d31 T A 15: 57,824,315 (GRCm39) L859Q probably damaging Het
Tecta C A 9: 42,306,239 (GRCm39) R63L probably damaging Het
Tex52 A G 6: 128,361,779 (GRCm39) E252G probably damaging Het
Tnfsf13b A G 8: 10,081,608 (GRCm39) I257V possibly damaging Het
Tpk1 A G 6: 43,400,653 (GRCm39) L172P probably damaging Het
Trim3 T G 7: 105,268,720 (GRCm39) N78T possibly damaging Het
Try5 A G 6: 41,289,312 (GRCm39) V88A probably benign Het
Vmn1r222 T G 13: 23,417,172 (GRCm39) M14L probably benign Het
Wdr90 A T 17: 26,074,277 (GRCm39) V678E probably benign Het
Zan A G 5: 137,452,340 (GRCm39) L1543P unknown Het
Other mutations in Anxa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01984:Anxa3 APN 5 96,982,630 (GRCm39) splice site probably benign
IGL03243:Anxa3 APN 5 96,976,551 (GRCm39) unclassified probably benign
F6893:Anxa3 UTSW 5 96,972,853 (GRCm39) unclassified probably benign
R0026:Anxa3 UTSW 5 96,986,260 (GRCm39) missense probably benign 0.01
R0468:Anxa3 UTSW 5 96,958,958 (GRCm39) missense probably benign 0.00
R0562:Anxa3 UTSW 5 96,960,743 (GRCm39) missense possibly damaging 0.90
R0724:Anxa3 UTSW 5 96,976,607 (GRCm39) missense possibly damaging 0.70
R1442:Anxa3 UTSW 5 96,976,549 (GRCm39) splice site probably null
R2276:Anxa3 UTSW 5 96,978,349 (GRCm39) critical splice donor site probably null
R4922:Anxa3 UTSW 5 96,968,288 (GRCm39) missense probably damaging 1.00
R5108:Anxa3 UTSW 5 96,978,273 (GRCm39) missense possibly damaging 0.83
R5529:Anxa3 UTSW 5 96,976,238 (GRCm39) missense probably benign 0.00
R5733:Anxa3 UTSW 5 96,968,331 (GRCm39) missense probably damaging 1.00
R5857:Anxa3 UTSW 5 96,976,651 (GRCm39) critical splice donor site probably null
R5902:Anxa3 UTSW 5 96,960,712 (GRCm39) nonsense probably null
R6558:Anxa3 UTSW 5 96,960,798 (GRCm39) splice site probably null
R6772:Anxa3 UTSW 5 96,958,972 (GRCm39) missense probably damaging 0.98
R7425:Anxa3 UTSW 5 96,982,680 (GRCm39) missense probably benign 0.30
R7515:Anxa3 UTSW 5 96,986,179 (GRCm39) missense probably damaging 1.00
R7619:Anxa3 UTSW 5 96,978,263 (GRCm39) missense probably damaging 1.00
R8018:Anxa3 UTSW 5 96,968,288 (GRCm39) missense probably damaging 1.00
R8197:Anxa3 UTSW 5 96,982,651 (GRCm39) missense probably benign 0.05
R8405:Anxa3 UTSW 5 96,978,295 (GRCm39) missense probably benign 0.00
R8723:Anxa3 UTSW 5 96,986,206 (GRCm39) missense probably benign 0.05
R9046:Anxa3 UTSW 5 96,976,626 (GRCm39) missense probably damaging 0.99
R9119:Anxa3 UTSW 5 96,976,557 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TGGTGAAGGCTCATTACAGGG -3'
(R):5'- GTCAGCCTATCTGTGTTTTAAAGG -3'

Sequencing Primer
(F):5'- GGCTCATTACAGGGGCTCAAAAC -3'
(R):5'- GCCTATCTGTGTTTTAAAGGATCATG -3'
Posted On 2016-07-22