Incidental Mutation 'R6796:Fcer2a'
ID 533012
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, Fce2, CD23, low-affinity IgE receptor
MMRRC Submission 044909-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6796 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 3731737-3744175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3739830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 47 (H47R)
Ref Sequence ENSEMBL: ENSMUSP00000146647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005678] [ENSMUST00000207463] [ENSMUST00000207635] [ENSMUST00000208145] [ENSMUST00000208438] [ENSMUST00000208492] [ENSMUST00000208603]
AlphaFold P20693
Predicted Effect possibly damaging
Transcript: ENSMUST00000005678
AA Change: H48R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005678
Gene: ENSMUSG00000005540
AA Change: H48R

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
coiled coil region 80 150 N/A INTRINSIC
CLECT 186 306 2.11e-41 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000207463
AA Change: D8G

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000207635
AA Change: H21R

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208145
AA Change: H47R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000208438
AA Change: H47R

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208492
AA Change: H47R

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000208603
AA Change: H47R

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0805 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (41/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,620,597 (GRCm39) V3950A probably damaging Het
App A G 16: 84,917,455 (GRCm39) I63T probably damaging Het
Bpifb4 A T 2: 153,803,467 (GRCm39) K381N probably damaging Het
Cdc45 C T 16: 18,603,607 (GRCm39) A529T probably damaging Het
Cdh18 T A 15: 23,446,159 (GRCm39) N536K probably damaging Het
Dpy19l1 C A 9: 24,414,158 (GRCm39) R90L possibly damaging Het
E2f3 A G 13: 30,102,568 (GRCm39) V231A possibly damaging Het
F930015N05Rik A T 11: 64,326,229 (GRCm39) probably benign Het
Hcar2 A G 5: 124,003,330 (GRCm39) S58P probably benign Het
Hivep3 A G 4: 119,953,558 (GRCm39) T625A possibly damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Itgax C T 7: 127,734,236 (GRCm39) A336V probably damaging Het
Lin37 A T 7: 30,256,341 (GRCm39) V140E probably damaging Het
Malrd1 T A 2: 15,874,595 (GRCm39) I1341K unknown Het
Map4k5 T C 12: 69,864,799 (GRCm39) I561V probably benign Het
Mcc A G 18: 44,857,627 (GRCm39) S163P probably benign Het
Nlrp12 T C 7: 3,290,039 (GRCm39) T158A probably damaging Het
Or5an6 A T 19: 12,372,292 (GRCm39) I222F probably damaging Het
Or5b119 A G 19: 13,457,278 (GRCm39) C95R probably damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pax8 A T 2: 24,331,098 (GRCm39) M200K probably benign Het
Plcd4 T C 1: 74,601,229 (GRCm39) S498P probably benign Het
Poglut1 T C 16: 38,349,972 (GRCm39) Y267C probably damaging Het
Pom121l2 T C 13: 22,167,694 (GRCm39) I655T probably benign Het
Proca1 G T 11: 78,085,754 (GRCm39) R19L probably benign Het
Prr30 A G 14: 101,436,380 (GRCm39) S61P probably benign Het
Ranbp17 T C 11: 33,167,398 (GRCm39) S1022G probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpgrip1 A G 14: 52,387,469 (GRCm39) H1037R probably damaging Het
Rpl34 G T 3: 130,522,926 (GRCm39) T6K probably damaging Het
Scaper T C 9: 55,771,711 (GRCm39) T402A probably benign Het
Selenow A T 7: 15,653,996 (GRCm39) V52E probably damaging Het
Septin14 T A 5: 129,774,822 (GRCm39) I118L probably benign Het
Sis A T 3: 72,872,951 (GRCm39) N62K probably benign Het
Sit1 A T 4: 43,482,761 (GRCm39) C133S probably benign Het
Susd3 ACC AC 13: 49,391,041 (GRCm39) probably null Het
Svep1 A G 4: 58,064,275 (GRCm39) V3236A probably benign Het
Taf12 G A 4: 132,016,725 (GRCm39) V168I possibly damaging Het
Tas2r139 A T 6: 42,118,526 (GRCm39) R219S probably damaging Het
Tmc1 A T 19: 20,776,400 (GRCm39) V653D probably damaging Het
Utp23 T A 15: 51,741,007 (GRCm39) L30Q probably damaging Het
Other mutations in Fcer2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Fcer2a APN 8 3,738,842 (GRCm39) missense possibly damaging 0.94
IGL01458:Fcer2a APN 8 3,738,151 (GRCm39) missense probably benign 0.45
IGL01545:Fcer2a APN 8 3,733,598 (GRCm39) nonsense probably null
IGL01994:Fcer2a APN 8 3,738,302 (GRCm39) missense possibly damaging 0.94
IGL03340:Fcer2a APN 8 3,738,310 (GRCm39) missense possibly damaging 0.75
anemone UTSW 8 3,738,796 (GRCm39) critical splice donor site probably null
R0058:Fcer2a UTSW 8 3,738,111 (GRCm39) splice site probably benign
R0058:Fcer2a UTSW 8 3,738,111 (GRCm39) splice site probably benign
R0241:Fcer2a UTSW 8 3,738,796 (GRCm39) critical splice donor site probably null
R0241:Fcer2a UTSW 8 3,738,796 (GRCm39) critical splice donor site probably null
R0276:Fcer2a UTSW 8 3,739,811 (GRCm39) missense possibly damaging 0.89
R1530:Fcer2a UTSW 8 3,732,976 (GRCm39) missense probably damaging 0.98
R2202:Fcer2a UTSW 8 3,738,557 (GRCm39) missense possibly damaging 0.72
R4133:Fcer2a UTSW 8 3,741,130 (GRCm39) missense possibly damaging 0.60
R4249:Fcer2a UTSW 8 3,738,831 (GRCm39) missense probably benign 0.00
R4273:Fcer2a UTSW 8 3,732,848 (GRCm39) missense possibly damaging 0.81
R4506:Fcer2a UTSW 8 3,738,603 (GRCm39) splice site probably null
R6861:Fcer2a UTSW 8 3,732,910 (GRCm39) missense probably damaging 0.98
R7421:Fcer2a UTSW 8 3,740,335 (GRCm39) missense probably benign
R7795:Fcer2a UTSW 8 3,732,910 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGAAGTTTTCTACTGAGATAGAGGC -3'
(R):5'- TCTGTGGCGTAAGGACATCC -3'

Sequencing Primer
(F):5'- AGATAGAGGCTATCCATTGGTTCCC -3'
(R):5'- CGTAAGGACATCCGCAGC -3'
Posted On 2018-08-29