Incidental Mutation 'R6666:Ms4a2'
ID 527001
Institutional Source Beutler Lab
Gene Symbol Ms4a2
Ensembl Gene ENSMUSG00000024680
Gene Name membrane-spanning 4-domains, subfamily A, member 2
Synonyms FcRB, Fcer1b, Fcrbeta, Fce1b
MMRRC Submission 044786-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6666 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 11592887-11601083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11595787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 168 (S168N)
Ref Sequence ENSEMBL: ENSMUSP00000139841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025583] [ENSMUST00000164792] [ENSMUST00000186978] [ENSMUST00000189641]
AlphaFold P20490
Predicted Effect probably benign
Transcript: ENSMUST00000025583
AA Change: S164N

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000025583
Gene: ENSMUSG00000024680
AA Change: S164N

DomainStartEndE-ValueType
Pfam:CD20 52 121 4e-20 PFAM
transmembrane domain 134 156 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164792
AA Change: S201N

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127373
Gene: ENSMUSG00000024680
AA Change: S201N

DomainStartEndE-ValueType
Pfam:CD20 52 195 6e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186413
Predicted Effect probably benign
Transcript: ENSMUST00000186978
SMART Domains Protein: ENSMUSP00000140628
Gene: ENSMUSG00000024680

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189641
AA Change: S168N

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139841
Gene: ENSMUSG00000024680
AA Change: S168N

DomainStartEndE-ValueType
Pfam:CD20 52 120 2.1e-20 PFAM
transmembrane domain 140 162 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: This gene encodes a member of the membrane-spanning 4A family. The encoded protein is the beta subunit of the high affinity IgE receptor and is localized to the membrane. The encoded protein is required for full activation of mast cells, including the release of histamine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygous null mice display decreased susceptibility to passive cutaneous anaphylaxis and abnormal mast cell physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik C A 10: 21,469,228 (GRCm39) probably null Het
Arhgap24 A G 5: 102,700,163 (GRCm39) probably null Het
Atp12a G T 14: 56,610,821 (GRCm39) V322L probably benign Het
Capza1 A C 3: 104,735,922 (GRCm39) probably null Het
Cela3a A T 4: 137,131,175 (GRCm39) S188T probably benign Het
Cplx1 G T 5: 108,668,031 (GRCm39) Y123* probably null Het
Ddias A T 7: 92,507,289 (GRCm39) D875E probably benign Het
Dnah3 T C 7: 119,670,172 (GRCm39) E715G probably benign Het
Fam83e A G 7: 45,376,426 (GRCm39) T380A probably benign Het
Fancd2 T C 6: 113,562,470 (GRCm39) V1270A probably damaging Het
Foxh1 A G 15: 76,552,613 (GRCm39) F367S probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gprc5a A G 6: 135,056,473 (GRCm39) I307V probably benign Het
Gtpbp3 A G 8: 71,943,582 (GRCm39) D212G possibly damaging Het
Helb A G 10: 119,920,856 (GRCm39) V1029A probably damaging Het
Il22ra1 A T 4: 135,477,772 (GRCm39) H281L probably damaging Het
Il2rb TAGTCA TAGTCAGTCA 15: 78,366,034 (GRCm39) probably null Het
Itga3 T C 11: 94,956,652 (GRCm39) T170A probably benign Het
Kdm3a T C 6: 71,588,974 (GRCm39) E345G probably benign Het
Kif11 T C 19: 37,398,214 (GRCm39) I680T probably benign Het
Klhl28 C T 12: 64,990,301 (GRCm39) D547N probably benign Het
Limk2 T A 11: 3,310,493 (GRCm39) E49D probably damaging Het
Lmbrd2 T A 15: 9,151,656 (GRCm39) F120I probably benign Het
Mefv T A 16: 3,525,862 (GRCm39) N802Y possibly damaging Het
Myct1 T C 10: 5,554,333 (GRCm39) S67P probably damaging Het
Myh4 A G 11: 67,142,638 (GRCm39) E933G probably damaging Het
Naif1 C A 2: 32,344,863 (GRCm39) T189K probably damaging Het
Nppb A G 4: 148,070,463 (GRCm39) I11V probably benign Het
Nr3c1 T C 18: 39,620,200 (GRCm39) D29G probably damaging Het
Nrcam A G 12: 44,618,338 (GRCm39) Y782C probably damaging Het
Or1af1 A T 2: 37,110,331 (GRCm39) I277F probably damaging Het
Or51e1 T C 7: 102,359,135 (GRCm39) probably null Het
Or9m1 T A 2: 87,733,852 (GRCm39) H56L probably damaging Het
Parp1 A G 1: 180,413,516 (GRCm39) T375A probably benign Het
Pcdhgb1 G T 18: 37,814,546 (GRCm39) E346* probably null Het
Pds5b G T 5: 150,701,631 (GRCm39) S754I probably damaging Het
Scnn1g G A 7: 121,366,611 (GRCm39) D603N probably benign Het
Slitrk5 A G 14: 111,917,534 (GRCm39) D386G probably damaging Het
Trmt1 T C 8: 85,425,083 (GRCm39) L493P probably damaging Het
Vrk1 A G 12: 106,024,910 (GRCm39) E262G probably damaging Het
Wfs1 T C 5: 37,124,963 (GRCm39) T567A possibly damaging Het
Zbtb11 A T 16: 55,826,615 (GRCm39) K846I probably damaging Het
Zfp318 A G 17: 46,720,140 (GRCm39) T1113A probably benign Het
Zfp654 A T 16: 64,606,596 (GRCm39) S535R probably benign Het
Other mutations in Ms4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3925:Ms4a2 UTSW 19 11,596,312 (GRCm39) missense probably benign 0.03
R4887:Ms4a2 UTSW 19 11,595,793 (GRCm39) missense possibly damaging 0.69
R6220:Ms4a2 UTSW 19 11,594,927 (GRCm39) missense probably damaging 0.98
R6804:Ms4a2 UTSW 19 11,594,899 (GRCm39) missense probably damaging 1.00
R9545:Ms4a2 UTSW 19 11,596,237 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- GCTGTGATCTCATGCCATTTCAG -3'
(R):5'- AGGTTGGAGTCATCACCTCC -3'

Sequencing Primer
(F):5'- CAAGAGCCAGTTTTTTGAG -3'
(R):5'- GTTGGAGTCATCACCTCCAATCAG -3'
Posted On 2018-07-23