Incidental Mutation 'R2146:Anxa2'
ID 233843
Institutional Source Beutler Lab
Gene Symbol Anxa2
Ensembl Gene ENSMUSG00000032231
Gene Name annexin A2
Synonyms lipocortin II, annexin II, Cal1h, 36-kDa calelectrin
MMRRC Submission 040149-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2146 (G1)
Quality Score 102
Status Validated
Chromosome 9
Chromosomal Location 69453620-69491795 bp(+) (GRCm38)
Type of Mutation frame shift
DNA Base Change (assembly) TCCC to TCC at 69489754 bp (GRCm38)
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

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

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

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: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (84/85)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,347,844 (GRCm38) probably null Het
9530002B09Rik T A 4: 122,689,405 (GRCm38) C13* probably null Het
Abca12 C A 1: 71,263,488 (GRCm38) V2191L probably benign Het
Adamts18 G C 8: 113,845,003 (GRCm38) A116G possibly damaging Het
Arfgef1 C T 1: 10,199,878 (GRCm38) A349T probably benign Het
Arhgap6 A G X: 168,796,500 (GRCm38) T94A probably benign Het
Arhgef5 T C 6: 43,283,318 (GRCm38) S1413P probably damaging Het
Atg4c C A 4: 99,221,226 (GRCm38) N143K possibly damaging Het
C1qtnf12 A G 4: 155,966,465 (GRCm38) N297S probably benign Het
Cadps2 G T 6: 23,838,999 (GRCm38) probably benign Het
Ccdc185 G T 1: 182,747,520 (GRCm38) H535N possibly damaging Het
Ccdc57 A G 11: 120,885,225 (GRCm38) probably benign Het
Cd163 A G 6: 124,309,208 (GRCm38) H239R probably damaging Het
Ceacam2 G T 7: 25,527,943 (GRCm38) C166* probably null Het
Ces5a T A 8: 93,534,699 (GRCm38) E33D probably benign Het
Chl1 T C 6: 103,715,401 (GRCm38) probably null Het
Chsy3 G A 18: 59,176,472 (GRCm38) V266I probably benign Het
Cpa5 G T 6: 30,626,822 (GRCm38) R251L probably damaging Het
Cps1 A C 1: 67,152,379 (GRCm38) probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 (GRCm38) probably null Het
Cstf1 T C 2: 172,375,763 (GRCm38) Y99H probably damaging Het
Cyp2j11 G A 4: 96,316,358 (GRCm38) T317I probably damaging Het
Dcaf8l T C X: 89,406,277 (GRCm38) D82G possibly damaging Het
Dennd3 A T 15: 73,555,060 (GRCm38) H762L probably benign Het
Dennd3 C T 15: 73,523,496 (GRCm38) T146M probably damaging Het
Dnah2 T C 11: 69,515,761 (GRCm38) M552V probably benign Het
Dnajc22 T C 15: 99,104,383 (GRCm38) V303A probably benign Het
Dtx2 T G 5: 136,030,610 (GRCm38) L458R probably benign Het
Fat3 A T 9: 15,990,512 (GRCm38) F3072L probably benign Het
Fgf5 T C 5: 98,275,550 (GRCm38) *265R probably null Het
Fndc11 A G 2: 181,222,125 (GRCm38) E241G probably damaging Het
Glb1 T C 9: 114,450,648 (GRCm38) Y375H probably damaging Het
Gm4922 T G 10: 18,783,516 (GRCm38) Q486P probably benign Het
Gm5786 A T 12: 59,081,298 (GRCm38) noncoding transcript Het
Hepacam2 A T 6: 3,463,378 (GRCm38) probably benign Het
Ints9 G A 14: 64,986,343 (GRCm38) G89R possibly damaging Het
Iqcm T A 8: 75,888,613 (GRCm38) W441R probably damaging Het
Itga10 G T 3: 96,653,723 (GRCm38) G635W probably damaging Het
Itga10 T C 3: 96,651,492 (GRCm38) L382P possibly damaging Het
Kbtbd2 A G 6: 56,779,090 (GRCm38) Y554H probably damaging Het
Kif1b T C 4: 149,184,309 (GRCm38) K1649R probably damaging Het
L1cam A T X: 73,861,141 (GRCm38) F536Y probably damaging Het
Magee1 A T X: 105,122,958 (GRCm38) D783V probably damaging Het
Marveld3 A T 8: 109,959,802 (GRCm38) V144E probably benign Het
Mcam T C 9: 44,136,635 (GRCm38) V59A probably damaging Het
Mdga2 C T 12: 66,868,741 (GRCm38) E47K probably damaging Het
Metrn T A 17: 25,796,627 (GRCm38) E38V probably damaging Het
Mfrp T C 9: 44,103,718 (GRCm38) L314P probably benign Het
Mgat4f T A 1: 134,390,513 (GRCm38) M341K probably damaging Het
Mideas G T 12: 84,173,035 (GRCm38) P382T probably damaging Het
Mospd2 A G X: 164,956,477 (GRCm38) probably null Het
Mycbp2 G A 14: 103,155,922 (GRCm38) H3068Y probably damaging Het
Myh6 C T 14: 54,953,771 (GRCm38) R871H probably damaging Het
Nup214 C T 2: 32,034,466 (GRCm38) S1669F probably damaging Het
Or13c7b A G 4: 43,821,178 (GRCm38) F61S probably damaging Het
Or5b111 T C 19: 13,314,121 (GRCm38) T55A probably benign Het
Or8i2 T A 2: 87,021,665 (GRCm38) N293I probably damaging Het
Parvb A G 15: 84,232,168 (GRCm38) K33E possibly damaging Het
Pdcd11 A G 19: 47,104,752 (GRCm38) M490V probably benign Het
Pkd2 A C 5: 104,455,590 (GRCm38) probably benign Het
Reps1 T A 10: 18,093,313 (GRCm38) D206E probably benign Het
Rimkla T A 4: 119,474,582 (GRCm38) M140L possibly damaging Het
Rnf13 T G 3: 57,802,486 (GRCm38) I150S probably null Het
Rxfp4 C T 3: 88,652,893 (GRCm38) A84T probably damaging Het
Serpinb8 T A 1: 107,605,927 (GRCm38) D237E probably benign Het
Sgo2b T G 8: 63,928,023 (GRCm38) T592P probably benign Het
Slc35d1 A T 4: 103,205,152 (GRCm38) I228N probably damaging Het
Slc39a1 T G 3: 90,249,450 (GRCm38) H104Q probably benign Het
Slc6a6 T C 6: 91,735,180 (GRCm38) V230A probably benign Het
Slc9a3 A G 13: 74,121,603 (GRCm38) E30G probably benign Het
Slc9c1 A G 16: 45,593,464 (GRCm38) Y985C probably benign Het
Supt6 A G 11: 78,230,932 (GRCm38) F298S probably damaging Het
Tada2a T C 11: 84,079,629 (GRCm38) D432G probably damaging Het
Thoc2l T C 5: 104,518,991 (GRCm38) F460L probably benign Het
Tmem131 C A 1: 36,812,609 (GRCm38) V938L probably benign Het
Tnpo3 A G 6: 29,589,036 (GRCm38) V105A probably benign Het
Ttc7 T C 17: 87,346,707 (GRCm38) probably benign Het
Ttn T C 2: 76,897,188 (GRCm38) probably benign Het
Usp16 T C 16: 87,473,187 (GRCm38) probably null Het
Usp36 A G 11: 118,268,665 (GRCm38) L486S probably benign Het
Uty T C Y: 1,239,816 (GRCm38) I72V probably benign Het
Vps51 A G 19: 6,068,134 (GRCm38) V777A probably benign Het
Zfp160 A G 17: 21,026,982 (GRCm38) K598R probably benign Het
Zfp39 T C 11: 58,890,332 (GRCm38) N535D probably benign Het
Zfp804a A G 2: 82,258,664 (GRCm38) T946A probably benign Het
Other mutations in Anxa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Anxa2 APN 9 69,483,019 (GRCm38) nonsense probably null
IGL02550:Anxa2 APN 9 69,467,306 (GRCm38) missense probably benign 0.00
FR4342:Anxa2 UTSW 9 69,480,210 (GRCm38) small insertion probably benign
FR4342:Anxa2 UTSW 9 69,480,205 (GRCm38) small insertion probably benign
FR4548:Anxa2 UTSW 9 69,480,203 (GRCm38) small insertion probably benign
FR4589:Anxa2 UTSW 9 69,480,210 (GRCm38) small insertion probably benign
R1480:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R1482:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R1519:Anxa2 UTSW 9 69,485,241 (GRCm38) missense probably damaging 1.00
R1609:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R1610:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R1624:Anxa2 UTSW 9 69,479,708 (GRCm38) missense probably benign 0.10
R1672:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R1696:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R1760:Anxa2 UTSW 9 69,489,767 (GRCm38) missense probably benign 0.00
R1775:Anxa2 UTSW 9 69,488,081 (GRCm38) missense possibly damaging 0.93
R1828:Anxa2 UTSW 9 69,482,978 (GRCm38) missense probably damaging 1.00
R1884:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R1991:Anxa2 UTSW 9 69,483,816 (GRCm38) missense probably damaging 1.00
R2020:Anxa2 UTSW 9 69,483,817 (GRCm38) missense probably damaging 0.99
R2029:Anxa2 UTSW 9 69,464,480 (GRCm38) missense possibly damaging 0.71
R2103:Anxa2 UTSW 9 69,483,816 (GRCm38) missense probably damaging 1.00
R2129:Anxa2 UTSW 9 69,476,128 (GRCm38) missense possibly damaging 0.48
R2148:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R2149:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R2150:Anxa2 UTSW 9 69,489,754 (GRCm38) frame shift probably null
R2437:Anxa2 UTSW 9 69,489,764 (GRCm38) missense probably damaging 1.00
R3848:Anxa2 UTSW 9 69,467,342 (GRCm38) missense probably damaging 1.00
R4036:Anxa2 UTSW 9 69,488,070 (GRCm38) missense probably damaging 0.99
R4565:Anxa2 UTSW 9 69,489,737 (GRCm38) missense probably damaging 1.00
R4731:Anxa2 UTSW 9 69,486,530 (GRCm38) missense probably benign 0.41
R5172:Anxa2 UTSW 9 69,485,251 (GRCm38) missense probably damaging 0.99
R5181:Anxa2 UTSW 9 69,476,065 (GRCm38) missense probably benign 0.00
R6427:Anxa2 UTSW 9 69,476,149 (GRCm38) critical splice donor site probably null
R6759:Anxa2 UTSW 9 69,483,821 (GRCm38) missense probably damaging 1.00
R7725:Anxa2 UTSW 9 69,480,128 (GRCm38) missense unknown
R7734:Anxa2 UTSW 9 69,491,482 (GRCm38) missense probably benign 0.41
R8532:Anxa2 UTSW 9 69,467,312 (GRCm38) missense probably benign 0.02
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-01