Incidental Mutation 'R2148:Anxa2'
ID 234024
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 040151-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2148 (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: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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 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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Abca13 A G 11: 9,565,764 (GRCm39) Y4796C probably damaging Het
Actn2 A T 13: 12,315,835 (GRCm39) M228K probably damaging Het
Agbl1 T G 7: 76,064,465 (GRCm39) probably null Het
Ahi1 T G 10: 20,846,875 (GRCm39) V435G possibly damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap6 A G X: 167,579,496 (GRCm39) T94A probably benign Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
Bcor G A X: 11,923,862 (GRCm39) A578V possibly damaging Het
Bop1 A G 15: 76,339,487 (GRCm39) V286A probably damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cacna1a A T 8: 85,356,304 (GRCm39) Q1887L possibly damaging Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Cnot2 A G 10: 116,342,185 (GRCm39) I173T probably benign Het
Cntnap5b T A 1: 100,311,199 (GRCm39) I564N probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dcaf8l T C X: 88,449,883 (GRCm39) D82G possibly damaging Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Dgkd T G 1: 87,809,643 (GRCm39) N110K probably damaging Het
Dhx8 A T 11: 101,629,203 (GRCm39) R198* probably null Het
Dnah8 A T 17: 30,956,232 (GRCm39) I2071F probably damaging Het
Dsc3 C T 18: 20,098,695 (GRCm39) R828Q probably damaging Het
Fbxl4 T C 4: 22,427,333 (GRCm39) F525L possibly damaging Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gpatch1 A G 7: 34,998,701 (GRCm39) V343A probably benign Het
Gpr139 A G 7: 118,744,192 (GRCm39) V131A probably benign Het
Hamp T C 7: 30,642,137 (GRCm39) T34A possibly damaging Het
Homer2 T G 7: 81,274,043 (GRCm39) D51A possibly damaging Het
Hspa1l C T 17: 35,196,366 (GRCm39) A135V probably damaging Het
Igsf10 A G 3: 59,243,998 (GRCm39) M112T possibly damaging Het
Ikbkb A T 8: 23,172,761 (GRCm39) L153Q probably damaging Het
Kif19a A T 11: 114,671,594 (GRCm39) I158F probably damaging Het
L1cam A T X: 72,904,747 (GRCm39) F536Y probably damaging Het
Lamb3 T C 1: 193,010,212 (GRCm39) V275A probably benign Het
Lhx1 A T 11: 84,410,647 (GRCm39) S226T probably benign Het
Llcfc1 G A 6: 41,662,155 (GRCm39) G53D possibly damaging Het
Loxl4 A G 19: 42,592,631 (GRCm39) probably null Het
Magee1 A T X: 104,166,564 (GRCm39) D783V probably damaging Het
Mak T C 13: 41,195,513 (GRCm39) K400R probably benign Het
Mgat4c T C 10: 102,224,790 (GRCm39) F335L probably benign Het
Mgat4f T A 1: 134,318,251 (GRCm39) M341K probably damaging Het
Mospd2 A G X: 163,739,473 (GRCm39) probably null Het
Mtor T C 4: 148,540,469 (GRCm39) F245L possibly damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myo5a T A 9: 75,087,429 (GRCm39) L1095H probably damaging Het
Nlrp1a T A 11: 71,013,733 (GRCm39) K506* probably null Het
Or5d18 C A 2: 87,864,943 (GRCm39) C180F probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Phkb A G 8: 86,744,115 (GRCm39) D588G probably damaging Het
Pkd1l2 A T 8: 117,783,064 (GRCm39) I752N probably damaging Het
Pkhd1 C A 1: 20,484,444 (GRCm39) probably null Het
Plod3 C T 5: 137,016,627 (GRCm39) R30* probably null Het
Ppfia4 T C 1: 134,240,372 (GRCm39) I591V probably benign Het
Prickle2 A G 6: 92,402,652 (GRCm39) L112P probably damaging Het
Ptgs2 G T 1: 149,981,465 (GRCm39) A583S probably benign Het
Pycr2 T C 1: 180,734,413 (GRCm39) V231A probably damaging Het
Ralgapa2 T C 2: 146,273,807 (GRCm39) D540G probably benign Het
Rasal1 T A 5: 120,800,096 (GRCm39) I150N probably damaging Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Sacs T C 14: 61,410,827 (GRCm39) L34P probably damaging Het
Sema3d A G 5: 12,534,926 (GRCm39) Y106C probably damaging Het
Serpinb8 T A 1: 107,533,657 (GRCm39) D237E probably benign Het
Slc19a2 T C 1: 164,089,657 (GRCm39) W158R probably damaging Het
Sorbs1 A T 19: 40,365,268 (GRCm39) F172I possibly damaging Het
Spaca7 A T 8: 12,636,447 (GRCm39) D91V probably damaging Het
Tead3 A G 17: 28,552,638 (GRCm39) F187L probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem132c T A 5: 127,540,026 (GRCm39) W351R probably damaging Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Trap1 T C 16: 3,878,624 (GRCm39) D236G probably damaging Het
Trim45 T A 3: 100,839,360 (GRCm39) L754* probably null Het
Tubgcp5 A G 7: 55,449,259 (GRCm39) E152G probably damaging Het
Uaca A T 9: 60,776,961 (GRCm39) L447F probably damaging Het
Vps51 A G 19: 6,118,164 (GRCm39) V777A probably benign Het
Wdr11 A G 7: 129,230,807 (GRCm39) probably null Het
Zfp462 T A 4: 55,013,670 (GRCm39) S1879T probably benign 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
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'- AGATCACGACCCACATGAGTG -3'
(R):5'- AGGTCACCACTCTGCCATTG -3'

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