Incidental Mutation 'R1696:Anxa2'
ID 192244
Institutional Source Beutler Lab
Gene Symbol Anxa2
Ensembl Gene ENSMUSG00000032231
Gene Name annexin A2
Synonyms Cal1h, lipocortin II, 36-kDa calelectrin, annexin II
MMRRC Submission 039729-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1696 (G1)
Quality Score 158
Status Not validated
Chromosome 9
Chromosomal Location 69360978-69399074 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TCCC to TCC at 69397036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034756] [ENSMUST00000123470] [ENSMUST00000136282]
AlphaFold P07356
Predicted Effect probably null
Transcript: ENSMUST00000034756
SMART Domains Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231

DomainStartEndE-ValueType
ANX 50 102 5.79e-20 SMART
ANX 122 174 1.5e-27 SMART
ANX 207 259 8.2e-11 SMART
ANX 282 334 1.6e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123470
SMART Domains Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231

DomainStartEndE-ValueType
ANX 50 102 5.79e-20 SMART
ANX 122 174 1.5e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000136282
SMART Domains Protein: ENSMUSP00000117855
Gene: ENSMUSG00000032231

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
ANX 55 107 1.5e-27 SMART
ANX 140 192 8.2e-11 SMART
ANX 215 267 1.6e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154591
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
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 as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable and fertile but suffer from growth deficits, impaired angiogenesis, and increased susceptibility to thrombosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,260,022 (GRCm39) T25A possibly damaging Het
Abca17 T C 17: 24,486,632 (GRCm39) Y1465C possibly damaging Het
Adgrb1 C T 15: 74,459,956 (GRCm39) R530W probably damaging Het
Ak9 A G 10: 41,203,585 (GRCm39) T159A possibly damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Amer2 T A 14: 60,617,123 (GRCm39) D439E possibly damaging Het
Arfgef2 T A 2: 166,703,558 (GRCm39) M870K probably damaging Het
Arhgef33 T C 17: 80,656,935 (GRCm39) F150S probably damaging Het
Arid2 A T 15: 96,268,064 (GRCm39) T726S probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Atp12a A T 14: 56,603,545 (GRCm39) E50V probably damaging Het
Bdkrb1 A G 12: 105,570,761 (GRCm39) N109S probably benign Het
Cald1 A G 6: 34,722,646 (GRCm39) E104G probably damaging Het
Capn15 A G 17: 26,183,878 (GRCm39) V267A probably benign Het
Ccng2 A T 5: 93,421,241 (GRCm39) K250N possibly damaging Het
Ccr10 T A 11: 101,065,210 (GRCm39) N107Y probably benign Het
Cntn2 T C 1: 132,449,017 (GRCm39) N664S probably damaging Het
Cyp24a1 T G 2: 170,327,963 (GRCm39) E426D probably benign Het
Cyp26a1 A G 19: 37,689,626 (GRCm39) S441G probably benign Het
Cyp4f14 T A 17: 33,128,145 (GRCm39) K290M possibly damaging Het
Dcp2 T A 18: 44,533,391 (GRCm39) L114Q probably damaging Het
Dhrs7 A G 12: 72,699,894 (GRCm39) F246S possibly damaging Het
Dlg1 T C 16: 31,600,616 (GRCm39) V167A probably damaging Het
Dnmt3b A T 2: 153,518,630 (GRCm39) K598* probably null Het
Dph7 T C 2: 24,859,692 (GRCm39) probably null Het
Ehbp1 T C 11: 22,003,441 (GRCm39) M1103V probably damaging Het
Ell2 T C 13: 75,917,677 (GRCm39) S536P probably damaging Het
Ero1a A T 14: 45,537,392 (GRCm39) V178E probably damaging Het
Faf2 T A 13: 54,786,067 (GRCm39) *50R probably null Het
Fbxl14 A T 6: 119,457,107 (GRCm39) N96I probably damaging Het
Fcrl2 T C 3: 87,166,825 (GRCm39) Y56C possibly damaging Het
Foxc1 T A 13: 31,992,782 (GRCm39) M531K unknown Het
Foxp1 A C 6: 98,922,663 (GRCm39) S391A probably benign Het
Frem2 A T 3: 53,563,463 (GRCm39) L348* probably null Het
Fsd1 T A 17: 56,295,257 (GRCm39) probably null Het
Gab2 A G 7: 96,872,840 (GRCm39) E81G probably damaging Het
Gcat G A 15: 78,919,995 (GRCm39) V196M probably damaging Het
Gfy T C 7: 44,827,470 (GRCm39) T209A possibly damaging Het
Ggt7 T C 2: 155,336,899 (GRCm39) N531S possibly damaging Het
Gnai3 A G 3: 108,016,775 (GRCm39) I343T probably damaging Het
H2-DMa A T 17: 34,357,387 (GRCm39) Q220L probably benign Het
Heatr1 A G 13: 12,438,602 (GRCm39) I1346V possibly damaging Het
Igfbp1 T A 11: 7,147,978 (GRCm39) V7D probably benign Het
Igfbp1 T C 11: 7,151,922 (GRCm39) W242R probably damaging Het
Kbtbd2 T G 6: 56,756,326 (GRCm39) K470T probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Klhl25 G T 7: 75,516,591 (GRCm39) G499V probably damaging Het
Krt7 A T 15: 101,321,307 (GRCm39) T375S probably benign Het
Krt73 G A 15: 101,708,344 (GRCm39) L238F probably damaging Het
Lama5 G T 2: 179,844,279 (GRCm39) H331Q probably damaging Het
Leng8 T G 7: 4,148,135 (GRCm39) F663V probably damaging Het
Lrp12 G T 15: 39,741,757 (GRCm39) H338Q probably damaging Het
Lrp6 T A 6: 134,445,686 (GRCm39) R1042S probably damaging Het
Map6 T A 7: 98,966,664 (GRCm39) probably null Het
Mdn1 T C 4: 32,700,417 (GRCm39) F1459L possibly damaging Het
Mmp1b T C 9: 7,386,699 (GRCm39) T142A probably damaging Het
Mmp23 T A 4: 155,735,166 (GRCm39) *392C probably null Het
Nlrp4a C T 7: 26,149,959 (GRCm39) S522F probably damaging Het
Nup93 T G 8: 95,023,183 (GRCm39) F254V probably benign Het
Oas1h G T 5: 121,000,885 (GRCm39) probably null Het
Ocstamp A G 2: 165,238,094 (GRCm39) L390P probably damaging Het
Olfm1 C A 2: 28,098,128 (GRCm39) Y20* probably null Het
Or10ac1 C T 6: 42,515,537 (GRCm39) V140M probably benign Het
Or13a26 A T 7: 140,284,409 (GRCm39) K82* probably null Het
Or52ae7 T C 7: 103,119,384 (GRCm39) V46A probably benign Het
Or5as1 A G 2: 86,980,724 (GRCm39) F94L probably benign Het
Or7g33 A G 9: 19,449,190 (GRCm39) F12S probably damaging Het
Pgghg T C 7: 140,525,224 (GRCm39) V410A possibly damaging Het
Polr2b T A 5: 77,490,495 (GRCm39) D878E probably benign Het
Pspc1 T C 14: 57,001,700 (GRCm39) T225A probably benign Het
Rad21l A T 2: 151,510,447 (GRCm39) Y3N probably damaging Het
Rbl2 A G 8: 91,812,352 (GRCm39) N280S probably benign Het
Rdm1 C A 11: 101,521,694 (GRCm39) Q150K probably benign Het
Ro60 T A 1: 143,633,575 (GRCm39) I508F probably damaging Het
Rrp12 A T 19: 41,862,188 (GRCm39) F932I probably damaging Het
Ryr2 A T 13: 11,746,543 (GRCm39) M2003K probably benign Het
Scfd2 T C 5: 74,691,539 (GRCm39) T248A probably benign Het
Slc22a16 G A 10: 40,460,923 (GRCm39) A242T possibly damaging Het
Slit3 C A 11: 35,566,750 (GRCm39) N1007K probably damaging Het
Sntg2 C A 12: 30,317,062 (GRCm39) G187C probably damaging Het
Spag5 T C 11: 78,212,152 (GRCm39) V1060A probably damaging Het
Spg7 G A 8: 123,816,964 (GRCm39) V552I probably benign Het
Spns2 T A 11: 72,347,173 (GRCm39) T434S probably benign Het
Srpk2 C T 5: 23,753,492 (GRCm39) W87* probably null Het
St3gal3 T C 4: 117,797,589 (GRCm39) I268V possibly damaging Het
Stat6 T C 10: 127,488,918 (GRCm39) C356R probably damaging Het
Stx8 A G 11: 67,902,248 (GRCm39) Q144R probably damaging Het
Tcn2 C A 11: 3,872,169 (GRCm39) L319F probably damaging Het
Tex14 T C 11: 87,402,371 (GRCm39) I486T possibly damaging Het
Thtpa T C 14: 55,333,242 (GRCm39) V109A probably benign Het
Tmem127 C A 2: 127,090,627 (GRCm39) L48I probably damaging Het
Tnfaip8 A T 18: 50,223,290 (GRCm39) K9* probably null Het
Tnfrsf1b T A 4: 144,954,044 (GRCm39) T102S probably benign Het
Tor1aip1 A T 1: 155,893,262 (GRCm39) M110K possibly damaging Het
Trim10 A T 17: 37,188,073 (GRCm39) K430* probably null Het
Trpv6 A G 6: 41,598,702 (GRCm39) V641A possibly damaging Het
Ttf1 T G 2: 28,960,014 (GRCm39) Y541D probably damaging Het
Ttn A G 2: 76,594,750 (GRCm39) V20432A probably damaging Het
Vac14 A T 8: 111,359,079 (GRCm39) probably null Het
Vipr2 G T 12: 116,102,777 (GRCm39) A296S probably benign Het
Vmn1r1 T C 1: 181,985,624 (GRCm39) R14G probably benign Het
Vmn1r178 T A 7: 23,593,625 (GRCm39) N151K probably damaging Het
Vmn1r58 T A 7: 5,413,727 (GRCm39) I168F possibly damaging Het
Vmn1r77 C T 7: 11,775,547 (GRCm39) Q40* probably null Het
Vmn2r76 T C 7: 85,880,464 (GRCm39) N74S possibly damaging Het
Zc2hc1c T A 12: 85,337,555 (GRCm39) M404K possibly damaging Het
Other mutations in Anxa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Anxa2 APN 9 69,390,301 (GRCm39) nonsense probably null
IGL02550:Anxa2 APN 9 69,374,588 (GRCm39) missense probably benign 0.00
FR4342:Anxa2 UTSW 9 69,387,492 (GRCm39) small insertion probably benign
FR4342:Anxa2 UTSW 9 69,387,487 (GRCm39) small insertion probably benign
FR4548:Anxa2 UTSW 9 69,387,485 (GRCm39) small insertion probably benign
FR4589:Anxa2 UTSW 9 69,387,492 (GRCm39) small insertion probably benign
R1480:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R1482:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R1519:Anxa2 UTSW 9 69,392,523 (GRCm39) missense probably damaging 1.00
R1609:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R1610:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R1624:Anxa2 UTSW 9 69,386,990 (GRCm39) missense probably benign 0.10
R1672:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R1760:Anxa2 UTSW 9 69,397,049 (GRCm39) missense probably benign 0.00
R1775:Anxa2 UTSW 9 69,395,363 (GRCm39) missense possibly damaging 0.93
R1828:Anxa2 UTSW 9 69,390,260 (GRCm39) missense probably damaging 1.00
R1884:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R1991:Anxa2 UTSW 9 69,391,098 (GRCm39) missense probably damaging 1.00
R2020:Anxa2 UTSW 9 69,391,099 (GRCm39) missense probably damaging 0.99
R2029:Anxa2 UTSW 9 69,371,762 (GRCm39) missense possibly damaging 0.71
R2103:Anxa2 UTSW 9 69,391,098 (GRCm39) missense probably damaging 1.00
R2129:Anxa2 UTSW 9 69,383,410 (GRCm39) missense possibly damaging 0.48
R2146:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R2148:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R2149:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R2150:Anxa2 UTSW 9 69,397,036 (GRCm39) frame shift probably null
R2437:Anxa2 UTSW 9 69,397,046 (GRCm39) missense probably damaging 1.00
R3848:Anxa2 UTSW 9 69,374,624 (GRCm39) missense probably damaging 1.00
R4036:Anxa2 UTSW 9 69,395,352 (GRCm39) missense probably damaging 0.99
R4565:Anxa2 UTSW 9 69,397,019 (GRCm39) missense probably damaging 1.00
R4731:Anxa2 UTSW 9 69,393,812 (GRCm39) missense probably benign 0.41
R5172:Anxa2 UTSW 9 69,392,533 (GRCm39) missense probably damaging 0.99
R5181:Anxa2 UTSW 9 69,383,347 (GRCm39) missense probably benign 0.00
R6427:Anxa2 UTSW 9 69,383,431 (GRCm39) critical splice donor site probably null
R6759:Anxa2 UTSW 9 69,391,103 (GRCm39) missense probably damaging 1.00
R7725:Anxa2 UTSW 9 69,387,410 (GRCm39) missense unknown
R7734:Anxa2 UTSW 9 69,398,764 (GRCm39) missense probably benign 0.41
R8532:Anxa2 UTSW 9 69,374,594 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACCCACATGAGTGCAGGCATTAAAC -3'
(R):5'- AGGAAGGTCACCACTCTGCCATTG -3'

Sequencing Primer
(F):5'- gctgctgttgtcgaaatcc -3'
(R):5'- cacatacacatatacacacccac -3'
Posted On 2014-05-14