Incidental Mutation 'R0276:Fcer2a'
ID 35372
Institutional Source Beutler Lab
Gene Symbol Fcer2a
Ensembl Gene ENSMUSG00000005540
Gene Name Fc receptor, IgE, low affinity II, alpha polypeptide
Synonyms Ly-42, FC epsilon RII, CD23, Fce2, low-affinity IgE receptor
MMRRC Submission 038498-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0276 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 3681737-3694175 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3689811 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 53 (N53K)
Ref Sequence ENSEMBL: ENSMUSP00000146568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005678] [ENSMUST00000207463] [ENSMUST00000207635] [ENSMUST00000208145] [ENSMUST00000208438] [ENSMUST00000208492] [ENSMUST00000208603]
AlphaFold P20693
Predicted Effect probably benign
Transcript: ENSMUST00000005678
AA Change: N54K

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000005678
Gene: ENSMUSG00000005540
AA Change: N54K

transmembrane domain 26 48 N/A INTRINSIC
coiled coil region 80 150 N/A INTRINSIC
CLECT 186 306 2.11e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207327
Predicted Effect probably benign
Transcript: ENSMUST00000207463
AA Change: N14K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000207635
AA Change: N27K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208145
AA Change: N53K

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000208438
AA Change: N53K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208492
AA Change: N53K

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000208603
AA Change: N53K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.8%
  • 10x: 96.2%
  • 20x: 93.8%
Validation Efficiency 98% (101/103)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for mutations in this gene are essentially normal although IgE levels or IgE mediated responses may be abnormal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 A G 2: 26,975,760 (GRCm38) N109S possibly damaging Het
Adcy10 T A 1: 165,572,591 (GRCm38) M1523K possibly damaging Het
Agtpbp1 C T 13: 59,462,031 (GRCm38) S1095N possibly damaging Het
Ang2 C T 14: 51,195,518 (GRCm38) V136I probably damaging Het
Arhgap10 A T 8: 77,413,581 (GRCm38) M250K probably benign Het
Arhgap33 A T 7: 30,523,244 (GRCm38) W1088R probably benign Het
Arhgef15 T C 11: 68,953,472 (GRCm38) probably benign Het
Aspm T C 1: 139,478,471 (GRCm38) S1699P possibly damaging Het
Atp12a C A 14: 56,387,694 (GRCm38) D1014E probably damaging Het
Atp1a4 T A 1: 172,257,901 (GRCm38) K45M probably damaging Het
Atp8a1 A T 5: 67,786,673 (GRCm38) probably benign Het
Baiap3 A C 17: 25,243,687 (GRCm38) F1099C probably damaging Het
Bcas3 T A 11: 85,470,837 (GRCm38) probably null Het
Bms1 G A 6: 118,408,134 (GRCm38) T371M possibly damaging Het
Camta1 C A 4: 151,075,140 (GRCm38) R1614L probably damaging Het
Capn3 T C 2: 120,488,065 (GRCm38) probably benign Het
Ccdc180 A G 4: 45,923,534 (GRCm38) D1105G probably damaging Het
Ccdc33 G T 9: 58,058,392 (GRCm38) P364Q probably damaging Het
Clstn3 A G 6: 124,431,740 (GRCm38) probably benign Het
Cntrl A T 2: 35,151,732 (GRCm38) Y619F possibly damaging Het
Col12a1 A T 9: 79,630,741 (GRCm38) Y2514* probably null Het
Cpt1b T C 15: 89,419,959 (GRCm38) H503R probably benign Het
Crb1 T A 1: 139,323,335 (GRCm38) T293S possibly damaging Het
D130043K22Rik C T 13: 24,858,045 (GRCm38) T319I possibly damaging Het
Dnaaf10 T C 11: 17,229,821 (GRCm38) I274T probably benign Het
Dzip1l G A 9: 99,660,998 (GRCm38) R502Q probably benign Het
Efcab5 G A 11: 77,140,923 (GRCm38) R42W probably damaging Het
Efcab5 A G 11: 77,129,876 (GRCm38) M673T probably damaging Het
F2rl3 A G 8: 72,762,798 (GRCm38) T218A probably benign Het
Fam135a C T 1: 24,067,964 (GRCm38) R31H probably damaging Het
Golgb1 A C 16: 36,913,876 (GRCm38) K1162Q probably damaging Het
Gpr137b A T 13: 13,367,575 (GRCm38) probably benign Het
Haspin A T 11: 73,136,487 (GRCm38) L592Q probably damaging Het
Helq A G 5: 100,790,147 (GRCm38) F478L probably damaging Het
Iho1 A T 9: 108,428,440 (GRCm38) M11K possibly damaging Het
Il17rb T A 14: 30,004,380 (GRCm38) T84S probably damaging Het
Itga4 T C 2: 79,321,493 (GRCm38) L880P probably damaging Het
Itih5 A G 2: 10,185,564 (GRCm38) I61V possibly damaging Het
Ivl G A 3: 92,571,514 (GRCm38) L415F unknown Het
Kif2a A G 13: 106,976,650 (GRCm38) probably benign Het
Kmt2d T C 15: 98,850,311 (GRCm38) probably benign Het
Lars2 A G 9: 123,438,121 (GRCm38) probably benign Het
Lilrb4a T C 10: 51,491,581 (GRCm38) V73A probably benign Het
Lratd2 G T 15: 60,823,674 (GRCm38) Y74* probably null Het
Lrrc8a A G 2: 30,256,788 (GRCm38) D538G possibly damaging Het
Lrrk1 G A 7: 66,296,263 (GRCm38) probably benign Het
Mc2r A T 18: 68,408,132 (GRCm38) I30K possibly damaging Het
Mybbp1a C A 11: 72,450,107 (GRCm38) probably null Het
Napg C T 18: 62,986,963 (GRCm38) R149C probably damaging Het
Ncam2 A G 16: 81,517,629 (GRCm38) probably benign Het
Nlk T C 11: 78,571,475 (GRCm38) I509V probably benign Het
Nlrp2 A T 7: 5,328,109 (GRCm38) N429K probably benign Het
Nlrp9b A G 7: 20,028,498 (GRCm38) T247A probably benign Het
Noxo1 A T 17: 24,700,162 (GRCm38) probably null Het
Or1n1b A T 2: 36,890,023 (GRCm38) M275K probably benign Het
Or2ag2b A T 7: 106,818,697 (GRCm38) I205L probably benign Het
Or3a10 A G 11: 74,045,118 (GRCm38) I52T probably damaging Het
Or4c107 T A 2: 88,958,755 (GRCm38) C96* probably null Het
Or4m1 C A 14: 50,320,179 (GRCm38) A219S probably benign Het
Oxr1 T C 15: 41,820,062 (GRCm38) S294P probably damaging Het
Pfpl A G 19: 12,429,237 (GRCm38) Y284C probably damaging Het
Pi16 A T 17: 29,326,943 (GRCm38) T232S probably benign Het
Plcxd2 A T 16: 46,009,707 (GRCm38) N50K probably benign Het
Plekhn1 T A 4: 156,228,246 (GRCm38) N52Y probably damaging Het
Prl2c5 T C 13: 13,183,049 (GRCm38) probably benign Het
Prrc2b G A 2: 32,219,654 (GRCm38) V1080I probably damaging Het
Psg28 A T 7: 18,430,396 (GRCm38) N130K probably benign Het
Psme4 C A 11: 30,811,980 (GRCm38) T440K probably damaging Het
Ptcd2 T C 13: 99,321,596 (GRCm38) K296E probably benign Het
Ptprq T C 10: 107,542,735 (GRCm38) probably null Het
Rab5b A C 10: 128,686,746 (GRCm38) probably null Het
Rft1 T A 14: 30,690,583 (GRCm38) S534T probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Rsu1 A T 2: 13,170,135 (GRCm38) probably benign Het
Senp6 A G 9: 80,136,747 (GRCm38) M887V probably benign Het
Sgcz T A 8: 37,952,919 (GRCm38) M60L probably benign Het
Siglec1 G A 2: 131,083,941 (GRCm38) Q282* probably null Het
Sipa1l2 T C 8: 125,421,940 (GRCm38) T1655A probably damaging Het
Slc28a2b T A 2: 122,521,928 (GRCm38) S389T probably damaging Het
Slc43a3 G A 2: 84,937,663 (GRCm38) probably benign Het
Snx29 T C 16: 11,738,373 (GRCm38) V756A probably benign Het
Spta1 T A 1: 174,217,894 (GRCm38) H1539Q probably damaging Het
Stk3 A C 15: 35,099,469 (GRCm38) S104A probably damaging Het
Stk38 C A 17: 28,992,416 (GRCm38) probably null Het
Stx6 T C 1: 155,174,163 (GRCm38) probably benign Het
Thbs4 G A 13: 92,775,532 (GRCm38) T230I probably benign Het
Thrsp A G 7: 97,417,502 (GRCm38) M1T probably null Het
Tmem63b A T 17: 45,675,373 (GRCm38) probably benign Het
Top2a A G 11: 99,009,907 (GRCm38) probably benign Het
Tpd52l2 T C 2: 181,502,059 (GRCm38) probably null Het
Trak1 A G 9: 121,454,338 (GRCm38) E390G probably damaging Het
Trappc3 T A 4: 126,273,952 (GRCm38) D101E possibly damaging Het
Trhr A G 15: 44,197,086 (GRCm38) M1V probably null Het
Triobp T A 15: 78,973,676 (GRCm38) I1159K probably benign Het
Unc45a A G 7: 80,326,297 (GRCm38) probably benign Het
Usb1 A G 8: 95,333,457 (GRCm38) D12G probably damaging Het
Ushbp1 C T 8: 71,394,649 (GRCm38) C113Y possibly damaging Het
Vim A G 2: 13,574,859 (GRCm38) K143R probably benign Het
Vmn2r75 T C 7: 86,148,307 (GRCm38) K766R probably benign Het
Xpo5 T G 17: 46,241,507 (GRCm38) C1089G probably damaging Het
Other mutations in Fcer2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Fcer2a APN 8 3,688,842 (GRCm38) missense possibly damaging 0.94
IGL01458:Fcer2a APN 8 3,688,151 (GRCm38) missense probably benign 0.45
IGL01545:Fcer2a APN 8 3,683,598 (GRCm38) nonsense probably null
IGL01994:Fcer2a APN 8 3,688,302 (GRCm38) missense possibly damaging 0.94
IGL03340:Fcer2a APN 8 3,688,310 (GRCm38) missense possibly damaging 0.75
anemone UTSW 8 3,688,796 (GRCm38) critical splice donor site probably null
R0058:Fcer2a UTSW 8 3,688,111 (GRCm38) splice site probably benign
R0058:Fcer2a UTSW 8 3,688,111 (GRCm38) splice site probably benign
R0241:Fcer2a UTSW 8 3,688,796 (GRCm38) critical splice donor site probably null
R0241:Fcer2a UTSW 8 3,688,796 (GRCm38) critical splice donor site probably null
R1530:Fcer2a UTSW 8 3,682,976 (GRCm38) missense probably damaging 0.98
R2202:Fcer2a UTSW 8 3,688,557 (GRCm38) missense possibly damaging 0.72
R4133:Fcer2a UTSW 8 3,691,130 (GRCm38) missense possibly damaging 0.60
R4249:Fcer2a UTSW 8 3,688,831 (GRCm38) missense probably benign 0.00
R4273:Fcer2a UTSW 8 3,682,848 (GRCm38) missense possibly damaging 0.81
R4506:Fcer2a UTSW 8 3,688,603 (GRCm38) splice site probably null
R6796:Fcer2a UTSW 8 3,689,830 (GRCm38) missense possibly damaging 0.92
R6861:Fcer2a UTSW 8 3,682,910 (GRCm38) missense probably damaging 0.98
R7421:Fcer2a UTSW 8 3,690,335 (GRCm38) missense probably benign
R7795:Fcer2a UTSW 8 3,682,910 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09