Incidental Mutation 'R1672:Anxa2'
ID 187712
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 039708-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1672 (G1)
Quality Score 217
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: 96.4%
  • 20x: 92.7%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik G A 16: 88,424,096 (GRCm39) Q132* probably null Het
Aadacl4 T A 4: 144,349,889 (GRCm39) L382* probably null Het
Afg3l2 A G 18: 67,540,493 (GRCm39) I672T probably benign Het
Aftph A T 11: 20,676,762 (GRCm39) D282E probably benign Het
Agpat5 A G 8: 18,920,930 (GRCm39) N161S probably benign Het
Alpk2 C T 18: 65,414,030 (GRCm39) E1562K probably damaging Het
Apobr A G 7: 126,186,723 (GRCm39) R745G probably benign Het
Arrdc5 T C 17: 56,607,144 (GRCm39) T34A possibly damaging Het
Astl T C 2: 127,189,163 (GRCm39) L163P probably damaging Het
Atf7ip2 A T 16: 10,027,005 (GRCm39) H91L probably damaging Het
Atp13a3 A T 16: 30,151,092 (GRCm39) S1073T possibly damaging Het
Bcl2a1a A T 9: 88,839,503 (GRCm39) I134L probably damaging Het
Brinp1 T C 4: 68,747,520 (GRCm39) probably null Het
Capn9 A G 8: 125,340,570 (GRCm39) N578S probably benign Het
Casp2 T A 6: 42,245,842 (GRCm39) D166E probably damaging Het
Ccr1l1 A T 9: 123,777,544 (GRCm39) I301N probably damaging Het
Chtop T A 3: 90,414,874 (GRCm39) T15S probably damaging Het
Coq5 T A 5: 115,417,975 (GRCm39) probably null Het
Crbn G A 6: 106,772,886 (GRCm39) P34L probably damaging Het
Crisp1 G T 17: 40,619,760 (GRCm39) D59E possibly damaging Het
Cyp4f14 A T 17: 33,128,210 (GRCm39) D268E probably benign Het
D5Ertd579e T C 5: 36,770,621 (GRCm39) D1258G possibly damaging Het
Dcp1b T C 6: 119,194,872 (GRCm39) S531P probably benign Het
Defb25 T C 2: 152,464,410 (GRCm39) M45V probably benign Het
Dffa T C 4: 149,190,702 (GRCm39) L77P probably damaging Het
Dixdc1 T C 9: 50,601,164 (GRCm39) Q361R probably damaging Het
Dnah1 A G 14: 30,998,157 (GRCm39) L2560P probably damaging Het
Fabp5 A G 3: 10,080,601 (GRCm39) T108A probably benign Het
Fam149a T G 8: 45,792,411 (GRCm39) probably null Het
Fam20c A G 5: 138,793,056 (GRCm39) Y430C probably damaging Het
Fat1 A G 8: 45,489,872 (GRCm39) T3595A probably damaging Het
Fbp1 A G 13: 63,015,245 (GRCm39) Y245H probably damaging Het
Frem1 C T 4: 82,917,128 (GRCm39) R605H probably benign Het
Fscb A G 12: 64,518,292 (GRCm39) I1058T unknown Het
Fyb2 A G 4: 104,808,059 (GRCm39) K373R probably benign Het
Ggta1 A T 2: 35,292,145 (GRCm39) Y387* probably null Het
Gm18856 T C 13: 14,140,342 (GRCm39) probably benign Het
Gm572 T C 4: 148,752,966 (GRCm39) S282P possibly damaging Het
Gpd2 A T 2: 57,247,712 (GRCm39) I552F probably damaging Het
Grk5 T C 19: 61,074,653 (GRCm39) probably null Het
Hivep1 T C 13: 42,313,760 (GRCm39) V2000A probably damaging Het
Ipo5 C T 14: 121,170,714 (GRCm39) L466F probably damaging Het
Itgb1 G A 8: 129,458,526 (GRCm39) S785N probably damaging Het
Itpr3 G A 17: 27,307,987 (GRCm39) R258K probably benign Het
Kcnk12 A G 17: 88,053,747 (GRCm39) V305A probably benign Het
Klf5 C T 14: 99,538,986 (GRCm39) T133I probably damaging Het
Lrig2 A G 3: 104,399,128 (GRCm39) I178T probably damaging Het
Lyrm4 A T 13: 36,276,907 (GRCm39) M30K probably benign Het
Mpv17 A G 5: 31,311,063 (GRCm39) Y7H probably damaging Het
Mrps22 T C 9: 98,478,869 (GRCm39) probably null Het
Myof A T 19: 37,931,927 (GRCm39) W967R probably damaging Het
Naip1 C T 13: 100,559,657 (GRCm39) D1116N probably benign Het
Or1e33 T C 11: 73,738,781 (GRCm39) T57A probably benign Het
Or6c66b C A 10: 129,376,561 (GRCm39) H52N probably benign Het
Or8g50 G A 9: 39,648,492 (GRCm39) C127Y probably damaging Het
Or9k2b T C 10: 130,016,261 (GRCm39) T163A probably benign Het
Ovol2 T C 2: 144,147,710 (GRCm39) Y180C probably damaging Het
Pacs1 T C 19: 5,202,337 (GRCm39) S418G probably benign Het
Pcdh1 T C 18: 38,325,233 (GRCm39) E903G probably damaging Het
Pcdhb15 A T 18: 37,607,713 (GRCm39) Y315F probably damaging Het
Pex1 T C 5: 3,676,085 (GRCm39) L891P probably damaging Het
Potefam1 T A 2: 111,051,119 (GRCm39) M226L probably benign Het
Ppfia2 G A 10: 106,666,429 (GRCm39) M378I possibly damaging Het
Ppp1r9a T A 6: 5,143,491 (GRCm39) probably null Het
Prm3 T C 16: 10,608,563 (GRCm39) E64G possibly damaging Het
Prmt6 T C 3: 110,157,887 (GRCm39) D134G possibly damaging Het
Prss42 G A 9: 110,629,996 (GRCm39) G250D probably damaging Het
Pwwp2b G A 7: 138,834,747 (GRCm39) V63I probably benign Het
Rbm17 T C 2: 11,590,530 (GRCm39) D375G possibly damaging Het
Rhbdl1 A T 17: 26,055,383 (GRCm39) probably null Het
Rims2 T A 15: 39,155,584 (GRCm39) D128E probably benign Het
Rock2 A G 12: 17,015,653 (GRCm39) K850R probably benign Het
Rreb1 T C 13: 38,114,513 (GRCm39) I624T probably benign Het
Rrp36 A T 17: 46,983,340 (GRCm39) D91E probably damaging Het
Scn7a C T 2: 66,527,944 (GRCm39) D849N possibly damaging Het
Sec24a A T 11: 51,634,775 (GRCm39) Y50* probably null Het
Sh2d4b A G 14: 40,614,921 (GRCm39) M1T probably null Het
Slc4a7 A G 14: 14,760,247 (GRCm38) I561V possibly damaging Het
Slc7a12 T C 3: 14,564,337 (GRCm39) V70A possibly damaging Het
Slfnl1 A T 4: 120,392,972 (GRCm39) I355F probably damaging Het
Spata2 C T 2: 167,325,439 (GRCm39) R460H probably damaging Het
Stk11ip C T 1: 75,505,629 (GRCm39) Q433* probably null Het
Susd1 T C 4: 59,411,395 (GRCm39) Y146C probably damaging Het
Susd5 A T 9: 113,897,890 (GRCm39) D115V probably damaging Het
Tas2r110 T A 6: 132,845,029 (GRCm39) V20E probably damaging Het
Tbc1d4 T C 14: 101,712,651 (GRCm39) Y694C possibly damaging Het
Tmem131 T C 1: 36,863,840 (GRCm39) E640G probably damaging Het
Togaram1 A G 12: 65,068,342 (GRCm39) T1782A probably benign Het
Trim24 T C 6: 37,892,214 (GRCm39) L249P probably damaging Het
Ttf1 T C 2: 28,957,164 (GRCm39) I478T probably damaging Het
Upf2 T A 2: 6,044,908 (GRCm39) probably null Het
Urb1 A T 16: 90,584,285 (GRCm39) C566S probably damaging Het
Vmn1r191 T C 13: 22,363,262 (GRCm39) N164S probably benign Het
Vmn2r81 T A 10: 79,104,112 (GRCm39) V245E probably damaging Het
Vwce T A 19: 10,630,459 (GRCm39) F506Y possibly damaging Het
Wnt8b T C 19: 44,499,715 (GRCm39) F155L probably damaging Het
Xrra1 A T 7: 99,547,647 (GRCm39) I279F probably benign Het
Zfp229 T C 17: 21,964,828 (GRCm39) S353P probably damaging Het
Zfp607b C T 7: 27,391,948 (GRCm39) H8Y possibly damaging Het
Zfp933 A T 4: 147,910,476 (GRCm39) H373Q probably damaging Het
Zfp938 A G 10: 82,060,982 (GRCm39) L546P probably benign Het
Zfp988 C T 4: 147,415,739 (GRCm39) R58C probably benign Het
Zkscan14 C T 5: 145,138,464 (GRCm39) V8I 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
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
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 2014-05-09