Incidental Mutation 'R2150:Anxa2'
ID 234203
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 040153-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2150 (G1)
Quality Score 212
Status 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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik C T 8: 88,312,691 (GRCm39) Q159* probably null Het
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Adprm A G 11: 66,929,055 (GRCm39) V312A probably benign Het
Anapc2 T C 2: 25,162,682 (GRCm39) L52P probably benign Het
Apoc4 T A 7: 19,412,560 (GRCm39) T62S probably damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap32 A G 9: 32,027,436 (GRCm39) E2G possibly damaging Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccdc63 C G 5: 122,265,628 (GRCm39) A71P possibly damaging Het
Cdca2 T C 14: 67,952,258 (GRCm39) K38E probably damaging Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dab2 T C 15: 6,446,398 (GRCm39) V5A probably benign Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Disp1 A G 1: 182,869,936 (GRCm39) F828S probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Dsel A T 1: 111,787,987 (GRCm39) N849K probably benign Het
Fah A T 7: 84,244,042 (GRCm39) I239N probably damaging Het
Flt4 T C 11: 49,536,824 (GRCm39) Y1265H probably benign Het
Ghdc T C 11: 100,660,018 (GRCm39) E243G probably benign Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gm6619 A G 6: 131,466,021 (GRCm39) I40V probably benign Het
Gpld1 T C 13: 25,146,630 (GRCm39) V225A probably benign Het
Hectd4 T C 5: 121,391,921 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,032,617 (GRCm39) I542V possibly damaging Het
Igsf9b T C 9: 27,245,633 (GRCm39) L1200P probably damaging Het
Itgb7 C T 15: 102,130,553 (GRCm39) V378M probably damaging Het
Krt84 T C 15: 101,438,019 (GRCm39) E312G possibly damaging Het
Man2a2 A G 7: 80,017,532 (GRCm39) W250R probably damaging Het
Mcam T C 9: 44,047,932 (GRCm39) V59A probably damaging Het
Mfrp T C 9: 44,015,015 (GRCm39) L314P probably benign Het
Mgat5 T C 1: 127,396,987 (GRCm39) V578A probably damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myh1 A C 11: 67,113,234 (GRCm39) D1873A probably benign Het
Nek9 A G 12: 85,376,677 (GRCm39) W235R probably damaging Het
Or9g19 T C 2: 85,600,342 (GRCm39) S66P probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pecr T C 1: 72,316,517 (GRCm39) R63G possibly damaging Het
Pkhd1l1 T G 15: 44,363,378 (GRCm39) probably null Het
Plekha5 T C 6: 140,516,129 (GRCm39) V270A probably damaging Het
Prr14l T C 5: 32,988,046 (GRCm39) D483G probably benign Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Senp1 C T 15: 97,956,196 (GRCm39) V408I possibly damaging Het
Stambpl1 T A 19: 34,204,104 (GRCm39) Y65N probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Themis T A 10: 28,544,723 (GRCm39) I23N probably damaging Het
Thnsl1 T C 2: 21,217,344 (GRCm39) I366T probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Vmn1r195 C G 13: 22,462,934 (GRCm39) L135V possibly damaging Het
Vmn2r-ps36 C T 7: 7,431,539 (GRCm39) noncoding transcript Het
Zfp956 G A 6: 47,940,805 (GRCm39) R388H probably damaging Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G probably benign 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
R1696: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
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'- AGATCACGACCCACATGAGTG -3'
(R):5'- AGGTCACCACTCTGCCATTG -3'

Sequencing Primer
(F):5'- CAGCTTTAGGGGATCTGACACTC -3'
(R):5'- GCCATTGTTCTCTACAGCCAC -3'
Posted On 2014-10-01