Incidental Mutation 'R7515:Anxa3'
ID 582380
Institutional Source Beutler Lab
Gene Symbol Anxa3
Ensembl Gene ENSMUSG00000029484
Gene Name annexin A3
Synonyms Anx3
MMRRC Submission 045588-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7515 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 96941244-96993827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96986179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 273 (N273Y)
Ref Sequence ENSEMBL: ENSMUSP00000031447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031447] [ENSMUST00000196126]
AlphaFold O35639
Predicted Effect probably damaging
Transcript: ENSMUST00000031447
AA Change: N273Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031447
Gene: ENSMUSG00000029484
AA Change: N273Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A T 11: 5,578,905 (GRCm39) E56D possibly damaging Het
Ankrd44 T C 1: 54,805,514 (GRCm39) Y182C probably damaging Het
Apobec2 T C 17: 48,730,015 (GRCm39) E217G probably damaging Het
Arhgap24 A G 5: 102,993,882 (GRCm39) probably benign Het
Asap2 A G 12: 21,279,240 (GRCm39) H374R possibly damaging Het
Camsap2 T C 1: 136,273,108 (GRCm39) D23G probably damaging Het
Ccr2 T C 9: 123,906,197 (GRCm39) V159A probably damaging Het
Cfap61 T A 2: 145,884,645 (GRCm39) D614E unknown Het
Crb2 G A 2: 37,673,412 (GRCm39) G103R probably damaging Het
Cyp2b9 A G 7: 25,898,596 (GRCm39) Y317C probably damaging Het
Dhx36 A G 3: 62,379,508 (GRCm39) V860A probably benign Het
Dnah3 T C 7: 119,672,815 (GRCm39) D553G probably benign Het
Dnah7c T C 1: 46,496,450 (GRCm39) S112P probably benign Het
Dnah9 A G 11: 65,732,240 (GRCm39) F4222S probably benign Het
Ei24 T C 9: 36,701,211 (GRCm39) D36G probably damaging Het
Etv3 G T 3: 87,435,363 (GRCm39) R78L possibly damaging Het
Fbxo34 T C 14: 47,767,798 (GRCm39) L437P possibly damaging Het
Foxn1 T C 11: 78,261,970 (GRCm39) D133G possibly damaging Het
Gabra1 T A 11: 42,045,660 (GRCm39) D150V possibly damaging Het
Gpr158 T C 2: 21,373,092 (GRCm39) L9P probably damaging Het
H2-M10.3 G A 17: 36,677,435 (GRCm39) T281I probably damaging Het
Il18r1 T C 1: 40,537,830 (GRCm39) S532P not run Het
Itpr2 T C 6: 146,228,608 (GRCm39) D1329G probably damaging Het
Jakmip2 A T 18: 43,704,191 (GRCm39) N384K probably benign Het
Kdsr A G 1: 106,662,290 (GRCm39) V255A possibly damaging Het
Kifc1 A G 17: 34,103,777 (GRCm39) L182P probably damaging Het
Lgals8 G A 13: 12,463,343 (GRCm39) R198* probably null Het
Lrrk1 A T 7: 65,912,310 (GRCm39) M1750K probably benign Het
Lrsam1 A G 2: 32,830,251 (GRCm39) probably null Het
Lztr1 C T 16: 17,327,525 (GRCm39) A76V possibly damaging Het
Mcc G T 18: 44,626,499 (GRCm39) H366N probably benign Het
Mif4gd A G 11: 115,499,222 (GRCm39) V220A possibly damaging Het
Mtmr12 T A 15: 12,270,037 (GRCm39) F708L probably damaging Het
Muc16 A T 9: 18,550,958 (GRCm39) W5112R probably benign Het
Ndrg2 A G 14: 52,146,380 (GRCm39) I140T probably benign Het
Nid2 C A 14: 19,841,635 (GRCm39) Q887K probably benign Het
Nop16 A T 13: 54,737,550 (GRCm39) S48T possibly damaging Het
Nrap G A 19: 56,354,859 (GRCm39) T489I possibly damaging Het
Oas1e C T 5: 120,929,951 (GRCm39) G189D probably damaging Het
Or4a39 A G 2: 89,237,250 (GRCm39) Y58H possibly damaging Het
Or7g34 A T 9: 19,477,949 (GRCm39) C244S probably damaging Het
Pcdha5 A T 18: 37,095,171 (GRCm39) D560V probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Phldb2 C T 16: 45,594,603 (GRCm39) D901N possibly damaging Het
Piezo1 T C 8: 123,212,035 (GRCm39) H2058R Het
Ptgis T A 2: 167,048,758 (GRCm39) K419N possibly damaging Het
Ptprz1 T C 6: 23,022,266 (GRCm39) F1714L probably damaging Het
Rasa2 T C 9: 96,434,353 (GRCm39) probably null Het
Recql C T 6: 142,320,611 (GRCm39) D146N probably damaging Het
Rnf6 T G 5: 146,148,602 (GRCm39) S139R probably damaging Het
Rock1 A G 18: 10,067,631 (GRCm39) S1301P probably damaging Het
Safb2 A G 17: 56,889,982 (GRCm39) probably null Het
Setd5 T A 6: 113,087,850 (GRCm39) I137N probably damaging Het
Sf3b6 G A 12: 4,870,619 (GRCm39) R19Q probably damaging Het
Slc15a5 T A 6: 138,020,496 (GRCm39) H279L possibly damaging Het
Slc26a9 A G 1: 131,681,711 (GRCm39) T175A probably damaging Het
Sspo A T 6: 48,470,820 (GRCm39) N36I probably damaging Het
Supv3l1 A C 10: 62,268,090 (GRCm39) F585C probably damaging Het
Tnrc6c G T 11: 117,632,507 (GRCm39) V1070L probably benign Het
Vmn2r53 T A 7: 12,315,846 (GRCm39) M658L probably benign Het
Zc3h13 A G 14: 75,546,349 (GRCm39) D150G unknown Het
Zfp607b T C 7: 27,402,921 (GRCm39) V459A probably benign Het
Zfp653 T C 9: 21,982,427 (GRCm39) R71G probably damaging 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
R5230:Anxa3 UTSW 5 96,986,171 (GRCm39) missense possibly damaging 0.47
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
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'- TGAAGGCTCATTACAGGGGC -3'
(R):5'- TGAGTCAGCCTATCTGTGTTTTAAAGG -3'

Sequencing Primer
(F):5'- GGCTCATTACAGGGGCTCAAAAC -3'
(R):5'- GCCTATCTGTGTTTTAAAGGATCATG -3'
Posted On 2019-10-17