Incidental Mutation 'R2129:Anxa2'
ID 227848
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 040132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2129 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 69360978-69399074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69383410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 75 (Y75F)
Ref Sequence ENSEMBL: ENSMUSP00000117979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034756] [ENSMUST00000123470] [ENSMUST00000134907] [ENSMUST00000136282]
AlphaFold P07356
Predicted Effect probably benign
Transcript: ENSMUST00000034756
AA Change: Y75F

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231
AA Change: Y75F

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
AA Change: Y75F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231
AA Change: Y75F

DomainStartEndE-ValueType
ANX 50 102 5.79e-20 SMART
ANX 122 174 1.5e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131093
Predicted Effect possibly damaging
Transcript: ENSMUST00000134907
AA Change: Y75F

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117979
Gene: ENSMUSG00000032231
AA Change: Y75F

DomainStartEndE-ValueType
ANX 50 102 5.79e-20 SMART
ANX 122 174 1.5e-27 SMART
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.2855 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (91/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abhd14a A T 9: 106,318,064 (GRCm39) L125Q probably null Het
Abhd17b T A 19: 21,658,413 (GRCm39) probably null Het
Abo G A 2: 26,736,586 (GRCm39) T61I probably benign Het
Adamts15 T C 9: 30,815,799 (GRCm39) T686A probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Bri3bp T A 5: 125,528,735 (GRCm39) L48* probably null Het
Car7 T A 8: 105,275,605 (GRCm39) C185S possibly damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chst10 A G 1: 38,904,776 (GRCm39) Y203H probably benign Het
Clca3a1 T C 3: 144,722,526 (GRCm39) D282G probably damaging Het
Coq3 T G 4: 21,900,342 (GRCm39) S190A probably benign Het
Crocc G A 4: 140,744,407 (GRCm39) R1830C probably damaging Het
Cygb A G 11: 116,540,668 (GRCm39) L106P probably damaging Het
Dab2 G T 15: 6,365,864 (GRCm39) E87* probably null Het
Dcst1 T A 3: 89,264,852 (GRCm39) I299F probably damaging Het
Dennd4a T G 9: 64,813,256 (GRCm39) probably null Het
Depdc7 A G 2: 104,558,518 (GRCm39) S168P probably benign Het
Dicer1 G A 12: 104,688,290 (GRCm39) T429I probably damaging Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Dock2 T C 11: 34,618,242 (GRCm39) M125V probably damaging Het
Dync2h1 A G 9: 7,175,289 (GRCm39) S107P possibly damaging Het
Emb T C 13: 117,404,082 (GRCm39) V278A probably damaging Het
Firrm T C 1: 163,794,026 (GRCm39) Y518C probably damaging Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Galm T C 17: 80,490,647 (GRCm39) I268T probably benign Het
Gm5581 A C 6: 131,145,247 (GRCm39) noncoding transcript Het
Gpr6 G A 10: 40,947,168 (GRCm39) S138L possibly damaging Het
Hesx1 C A 14: 26,722,802 (GRCm39) H42Q possibly damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Kctd19 T C 8: 106,111,804 (GRCm39) T31A probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Krtap19-3 T C 16: 88,674,863 (GRCm39) probably benign Het
Lin28a T A 4: 133,745,465 (GRCm39) I43F probably benign Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 A G 4: 123,262,608 (GRCm39) probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Megf8 T C 7: 25,030,140 (GRCm39) L425P probably damaging Het
Mospd4 A G 18: 46,598,731 (GRCm39) noncoding transcript Het
Mybpc1 T G 10: 88,387,314 (GRCm39) T466P probably damaging Het
Myo10 T C 15: 25,781,885 (GRCm39) Y1127H probably benign Het
Myo18b A T 5: 112,978,944 (GRCm39) L1223Q probably damaging Het
Myo9b T C 8: 71,786,343 (GRCm39) Y670H probably damaging Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Neurod2 G T 11: 98,218,414 (GRCm39) A250E possibly damaging Het
Nherf1 A T 11: 115,067,270 (GRCm39) I174F probably damaging Het
Nipsnap1 C A 11: 4,838,932 (GRCm39) N119K probably benign Het
Npffr2 A T 5: 89,715,924 (GRCm39) I84F probably damaging Het
Or10ab4 T A 7: 107,655,111 (GRCm39) N307K probably benign Het
Or11h23 A G 14: 50,948,093 (GRCm39) Y102C probably damaging Het
Or2t48 T C 11: 58,420,437 (GRCm39) D125G probably damaging Het
Pald1 A G 10: 61,184,085 (GRCm39) probably null Het
Palld T C 8: 62,330,395 (GRCm39) S161G probably benign Het
Paqr9 T A 9: 95,443,122 (GRCm39) F371I probably benign Het
Pear1 A T 3: 87,665,666 (GRCm39) C120* probably null Het
Pla2g4e A T 2: 120,013,292 (GRCm39) F343I probably damaging Het
Plxdc2 A T 2: 16,516,902 (GRCm39) Y61F probably benign Het
Polh G A 17: 46,499,014 (GRCm39) Q234* probably null Het
Prkce T A 17: 86,803,463 (GRCm39) M454K possibly damaging Het
Proser1 C A 3: 53,385,366 (GRCm39) T416K probably benign Het
Prr14l G T 5: 32,989,172 (GRCm39) probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rp1l1 T A 14: 64,266,415 (GRCm39) V667D possibly damaging Het
Rpp40 A T 13: 36,082,604 (GRCm39) C256* probably null Het
Rps6ka5 A G 12: 100,644,797 (GRCm39) L51P probably damaging Het
Rtp2 C T 16: 23,746,457 (GRCm39) C78Y probably damaging Het
Ryr3 A G 2: 112,508,715 (GRCm39) probably benign Het
Slc10a6 A G 5: 103,756,922 (GRCm39) Y281H probably benign Het
Slc6a21 T G 7: 44,932,197 (GRCm39) probably null Het
Smo A G 6: 29,757,313 (GRCm39) Y476C probably damaging Het
Tacr3 A T 3: 134,560,621 (GRCm39) T187S probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tasp1 T C 2: 139,890,164 (GRCm39) K71E possibly damaging Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Tmem41a T C 16: 21,764,911 (GRCm39) probably null Het
Tmem63a A G 1: 180,793,105 (GRCm39) N459D probably benign Het
Ube2k A G 5: 65,752,269 (GRCm39) T151A probably damaging Het
Ubr1 T C 2: 120,773,034 (GRCm39) E402G probably benign Het
Ulk4 T A 9: 120,981,248 (GRCm39) I897F probably benign Het
Usp30 A G 5: 114,249,224 (GRCm39) E176G probably damaging Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Wdr17 C T 8: 55,085,416 (GRCm39) V1236M probably damaging Het
Zbtb32 T C 7: 30,290,918 (GRCm39) K126E possibly damaging Het
Zeb1 A T 18: 5,767,681 (GRCm39) S731C 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
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
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'- AGGGATGAGCTAGTCGTGAC -3'
(R):5'- TGGTATCCCCAGCATTTCTGTG -3'

Sequencing Primer
(F):5'- ATGAGCTAGTCGTGACATTCTAG -3'
(R):5'- TCCCCAGCATTTCTGTGACAAGATAG -3'
Posted On 2014-09-17