Incidental Mutation 'IGL03340:Fcer2a'
ID417175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcer2a
Ensembl Gene ENSMUSG00000005540
Gene NameFc receptor, IgE, low affinity II, alpha polypeptide
SynonymsLy-42, FC epsilon RII, CD23, Fce2, low-affinity IgE receptor
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03340
Quality Score
Status
Chromosome8
Chromosomal Location3681737-3694175 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3688310 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 120 (D120G)
Ref Sequence ENSEMBL: ENSMUSP00000146568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005678] [ENSMUST00000207463] [ENSMUST00000207635] [ENSMUST00000208145] [ENSMUST00000208438] [ENSMUST00000208492] [ENSMUST00000208603]
Predicted Effect probably benign
Transcript: ENSMUST00000005678
AA Change: D121G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000005678
Gene: ENSMUSG00000005540
AA Change: D121G

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 noncoding transcript
Transcript: ENSMUST00000207327
Predicted Effect probably benign
Transcript: ENSMUST00000207463
AA Change: D81G

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000207635
AA Change: D94G

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000208145
AA Change: D120G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000208438
AA Change: D99G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208492
AA Change: D120G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000208603
AA Change: D99G

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,080,001 L26P probably benign Het
Aff1 A T 5: 103,783,804 H104L possibly damaging Het
Apon T C 10: 128,254,978 I175T probably benign Het
C2cd6 A C 1: 59,076,671 F168V probably benign Het
Cgn C T 3: 94,778,095 probably benign Het
Cramp1l G A 17: 24,973,542 P956L probably damaging Het
Cyp2e1 G A 7: 140,764,854 V78M probably damaging Het
Cyp4b1 G A 4: 115,641,879 P97S probably damaging Het
Fads2 G T 19: 10,091,772 P96Q possibly damaging Het
Fam160a2 A G 7: 105,389,310 S241P probably damaging Het
Gm21972 G T 1: 86,133,728 A887S probably damaging Het
Grk6 A G 13: 55,453,190 D295G probably damaging Het
Herc2 T A 7: 56,090,920 V270D possibly damaging Het
Kcnk2 T A 1: 189,295,681 I126F possibly damaging Het
Kifap3 T G 1: 163,829,149 V346G possibly damaging Het
Kpna1 T A 16: 36,000,246 N20K probably damaging Het
Krt33b A G 11: 100,025,472 probably benign Het
Krtap9-5 T C 11: 99,948,601 C43R possibly damaging Het
Lars G A 18: 42,228,650 probably benign Het
Lifr T C 15: 7,177,936 W540R probably benign Het
Lrp1b A G 2: 41,468,969 S631P probably damaging Het
Mbd1 G T 18: 74,274,482 R111L probably benign Het
Meltf C T 16: 31,892,784 T576M probably damaging Het
Mmp20 G A 9: 7,643,994 G228S probably damaging Het
Mob4 A G 1: 55,136,708 D37G possibly damaging Het
Msr1 T C 8: 39,620,007 K234E possibly damaging Het
Myof A G 19: 37,911,159 V1764A probably damaging Het
Naaladl1 A G 19: 6,106,199 Y105C possibly damaging Het
Nisch A G 14: 31,173,144 V1065A probably damaging Het
Npas4 A T 19: 4,985,066 probably benign Het
Olfr1232 T C 2: 89,325,695 T162A possibly damaging Het
Pdss2 A G 10: 43,394,001 D280G probably benign Het
Plk3 A G 4: 117,132,928 I182T probably damaging Het
Ppm1k A G 6: 57,510,726 W371R probably damaging Het
Samm50 T C 15: 84,198,663 probably null Het
Scaper G T 9: 55,602,832 T640K possibly damaging Het
Sun3 A C 11: 9,023,285 probably benign Het
Svep1 T A 4: 58,111,451 K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 P745Q probably benign Het
Tomm20l A T 12: 71,117,614 probably benign Het
Usp38 A C 8: 81,012,276 L237V probably damaging Het
Vmn1r210 T C 13: 22,827,474 Y214C probably benign Het
Zan G A 5: 137,427,874 P2547S unknown Het
Other mutations in Fcer2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Fcer2a APN 8 3688842 missense possibly damaging 0.94
IGL01458:Fcer2a APN 8 3688151 missense probably benign 0.45
IGL01545:Fcer2a APN 8 3683598 nonsense probably null
IGL01994:Fcer2a APN 8 3688302 missense possibly damaging 0.94
anemone UTSW 8 3688796 critical splice donor site probably null
R0058:Fcer2a UTSW 8 3688111 splice site probably benign
R0058:Fcer2a UTSW 8 3688111 splice site probably benign
R0241:Fcer2a UTSW 8 3688796 critical splice donor site probably null
R0241:Fcer2a UTSW 8 3688796 critical splice donor site probably null
R0276:Fcer2a UTSW 8 3689811 missense possibly damaging 0.89
R1530:Fcer2a UTSW 8 3682976 missense probably damaging 0.98
R2202:Fcer2a UTSW 8 3688557 missense possibly damaging 0.72
R4133:Fcer2a UTSW 8 3691130 missense possibly damaging 0.60
R4249:Fcer2a UTSW 8 3688831 missense probably benign 0.00
R4273:Fcer2a UTSW 8 3682848 missense possibly damaging 0.81
R4506:Fcer2a UTSW 8 3688603 splice site probably null
R6796:Fcer2a UTSW 8 3689830 missense possibly damaging 0.92
R6861:Fcer2a UTSW 8 3682910 missense probably damaging 0.98
R7421:Fcer2a UTSW 8 3690335 missense probably benign
R7795:Fcer2a UTSW 8 3682910 missense probably benign
Posted On2016-08-02