Incidental Mutation 'R7477:Fcer1a'
ID 628202
Institutional Source Beutler Lab
Gene Symbol Fcer1a
Ensembl Gene ENSMUSG00000005339
Gene Name Fc receptor, IgE, high affinity I, alpha polypeptide
Synonyms Fce1a, FcERI, Fcr-5
MMRRC Submission 045551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7477 (G1)
Quality Score 111.008
Status Validated
Chromosome 1
Chromosomal Location 173048851-173054781 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 173048851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049706] [ENSMUST00000049706] [ENSMUST00000056592] [ENSMUST00000193017] [ENSMUST00000216556] [ENSMUST00000217374]
AlphaFold P20489
Predicted Effect probably null
Transcript: ENSMUST00000049706
SMART Domains Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 34 108 1.08e-8 SMART
IG 116 193 1.37e-1 SMART
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000049706
SMART Domains Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 34 108 1.08e-8 SMART
IG 116 193 1.37e-1 SMART
transmembrane domain 200 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000056592
SMART Domains Protein: ENSMUSP00000050406
Gene: ENSMUSG00000049456

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 7.9e-55 PFAM
Pfam:7tm_1 42 291 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193017
SMART Domains Protein: ENSMUSP00000141932
Gene: ENSMUSG00000005339

DomainStartEndE-ValueType
IG_like 9 52 4.8e-1 SMART
IG 60 137 5.7e-4 SMART
transmembrane domain 144 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000216556
Predicted Effect probably benign
Transcript: ENSMUST00000217374
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (66/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mast cell physiology and altered susceptibility to type I hypersensitivity reaction. Mice homozygous for another knock-out allele display altered development of allergic airway inflammation and airway hyperresponsiveness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 G T 5: 35,749,447 (GRCm39) E191* probably null Het
Adam26a T A 8: 44,022,107 (GRCm39) E461V probably damaging Het
Adamtsl1 G A 4: 86,333,888 (GRCm39) R1539Q probably damaging Het
Adipor2 A T 6: 119,338,883 (GRCm39) H123Q probably benign Het
Akap13 C T 7: 75,398,995 (GRCm39) S2691L probably benign Het
Aldh1l1 T C 6: 90,575,369 (GRCm39) probably null Het
Ankrd11 A T 8: 123,621,124 (GRCm39) S909R possibly damaging Het
Bop1 T C 15: 76,339,526 (GRCm39) E273G probably damaging Het
Car1 G A 3: 14,841,343 (GRCm39) H97Y probably damaging Het
Casp14 T C 10: 78,550,138 (GRCm39) N170S probably benign Het
Ccdc158 A T 5: 92,798,555 (GRCm39) L382M probably damaging Het
Ccdc18 A C 5: 108,368,716 (GRCm39) Q1279H probably damaging Het
Cdh18 A G 15: 23,410,811 (GRCm39) N432S probably benign Het
Ctdp1 T C 18: 80,483,929 (GRCm39) probably null Het
Dhx30 A G 9: 109,916,208 (GRCm39) I691T probably damaging Het
Dnah9 A G 11: 65,883,557 (GRCm39) I2562T probably damaging Het
Dsp A T 13: 38,356,839 (GRCm39) I240F probably damaging Het
Ell T C 8: 71,037,868 (GRCm39) S308P probably benign Het
Elmo1 A G 13: 20,469,489 (GRCm39) D26G Het
Fam171a1 T C 2: 3,226,676 (GRCm39) V603A probably benign Het
Fam83e G A 7: 45,378,404 (GRCm39) G476D probably damaging Het
Farp2 A G 1: 93,508,750 (GRCm39) probably null Het
Gpr179 G T 11: 97,226,665 (GRCm39) T1830K possibly damaging Het
Grin3a G A 4: 49,719,278 (GRCm39) P823S probably damaging Het
Heatr4 T A 12: 84,026,604 (GRCm39) I218F probably damaging Het
Il36rn T A 2: 24,169,704 (GRCm39) Y21* probably null Het
Jakmip1 A G 5: 37,330,915 (GRCm39) T532A probably benign Het
Klf11 A G 12: 24,703,562 (GRCm39) D16G probably benign Het
Lrp1 T A 10: 127,404,789 (GRCm39) I1971F probably damaging Het
Lrrc9 T A 12: 72,550,301 (GRCm39) probably null Het
Lrrk2 C T 15: 91,696,528 (GRCm39) L2439F probably damaging Het
Lypd10 A G 7: 24,413,673 (GRCm39) T230A probably benign Het
Mapk14 G A 17: 28,964,052 (GRCm39) D313N probably damaging Het
Max A T 12: 76,999,960 (GRCm39) S52T probably benign Het
Mrpl23 A G 7: 142,091,018 (GRCm39) R80G possibly damaging Het
Muc5ac C A 7: 141,370,019 (GRCm39) N3186K possibly damaging Het
Mylk2 G A 2: 152,762,261 (GRCm39) V511I probably damaging Het
Mypn T C 10: 62,961,500 (GRCm39) M1031V possibly damaging Het
Nbeal1 A G 1: 60,300,743 (GRCm39) T1488A probably benign Het
Ncbp1 A T 4: 46,157,897 (GRCm39) E378D probably damaging Het
Nedd9 A T 13: 41,471,956 (GRCm39) D174E probably benign Het
Nid2 T A 14: 19,856,041 (GRCm39) D1255E probably benign Het
Nlrc3 A G 16: 3,782,675 (GRCm39) C261R probably damaging Het
Or5w22 A G 2: 87,362,431 (GRCm39) N18S probably benign Het
Pgam1 T A 19: 41,905,255 (GRCm39) H196Q probably damaging Het
Pja2 A C 17: 64,616,640 (GRCm39) V85G possibly damaging Het
Pkd2 G A 5: 104,631,108 (GRCm39) V511M probably benign Het
Ppp2cb T A 8: 34,105,502 (GRCm39) S171T probably benign Het
Prkab2 T C 3: 97,566,063 (GRCm39) F45S probably damaging Het
Rabep2 A T 7: 126,043,990 (GRCm39) probably null Het
Rnf41 T A 10: 128,271,303 (GRCm39) I71N probably damaging Het
Slc5a7 G A 17: 54,588,787 (GRCm39) P287S probably damaging Het
Smc6 A G 12: 11,321,808 (GRCm39) D25G probably benign Het
Sptb A T 12: 76,675,339 (GRCm39) L225Q probably damaging Het
Tenm4 A C 7: 96,495,015 (GRCm39) I1148L probably damaging Het
Tnk2 C A 16: 32,496,709 (GRCm39) probably null Het
Trank1 G A 9: 111,194,025 (GRCm39) S683N probably benign Het
Trp53bp1 A C 2: 121,066,827 (GRCm39) V633G probably benign Het
Ugt2a3 T C 5: 87,484,479 (GRCm39) K182E possibly damaging Het
Uncx A T 5: 139,533,017 (GRCm39) T361S probably benign Het
Vmn2r11 A T 5: 109,207,214 (GRCm39) N35K possibly damaging Het
Vmn2r4 C A 3: 64,305,850 (GRCm39) R524L probably benign Het
Vmn2r5 C T 3: 64,399,060 (GRCm39) V640M probably damaging Het
Washc4 T C 10: 83,410,307 (GRCm39) Y632H probably damaging Het
Xkr6 T C 14: 63,844,129 (GRCm39) S51P possibly damaging Het
Zer1 C A 2: 29,997,988 (GRCm39) K408N probably null Het
Znhit2 A G 19: 6,112,501 (GRCm39) probably null Het
Other mutations in Fcer1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Fcer1a APN 1 173,050,100 (GRCm39) unclassified probably benign
IGL02068:Fcer1a APN 1 173,053,071 (GRCm39) missense probably damaging 1.00
IGL03116:Fcer1a APN 1 173,049,128 (GRCm39) nonsense probably null
IGL03343:Fcer1a APN 1 173,053,040 (GRCm39) missense possibly damaging 0.86
P0031:Fcer1a UTSW 1 173,052,899 (GRCm39) missense probably benign 0.30
R1772:Fcer1a UTSW 1 173,053,004 (GRCm39) missense probably benign 0.04
R2163:Fcer1a UTSW 1 173,050,264 (GRCm39) missense probably damaging 1.00
R4079:Fcer1a UTSW 1 173,052,920 (GRCm39) missense probably damaging 1.00
R4618:Fcer1a UTSW 1 173,050,208 (GRCm39) missense possibly damaging 0.90
R5092:Fcer1a UTSW 1 173,053,022 (GRCm39) missense probably damaging 0.98
R6633:Fcer1a UTSW 1 173,054,293 (GRCm39) critical splice donor site probably null
R6719:Fcer1a UTSW 1 173,050,340 (GRCm39) missense possibly damaging 0.90
R7404:Fcer1a UTSW 1 173,049,083 (GRCm39) missense probably damaging 0.99
R7756:Fcer1a UTSW 1 173,049,142 (GRCm39) missense probably damaging 0.96
R8798:Fcer1a UTSW 1 173,053,047 (GRCm39) missense probably benign
R9295:Fcer1a UTSW 1 173,050,174 (GRCm39) missense probably damaging 1.00
R9559:Fcer1a UTSW 1 173,052,884 (GRCm39) missense possibly damaging 0.85
R9686:Fcer1a UTSW 1 173,052,980 (GRCm39) missense possibly damaging 0.88
RF016:Fcer1a UTSW 1 173,053,086 (GRCm39) missense possibly damaging 0.85
X0012:Fcer1a UTSW 1 173,049,115 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCTTCTAGCAACAGAAGGCAG -3'
(R):5'- TGGACACGGGGTTATTGCTC -3'

Sequencing Primer
(F):5'- CTGTGCCACCTACTGTATATAATGAC -3'
(R):5'- GGGTTATTGCTCTCAACCGAAGAAC -3'
Posted On 2020-02-05