Incidental Mutation 'R6804:Ms4a2'
ID 533505
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 044917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6804 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 11592887-11601083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11594899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 183 (Y183H)
Ref Sequence ENSEMBL: ENSMUSP00000139841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025583] [ENSMUST00000164792] [ENSMUST00000186978] [ENSMUST00000189641]
AlphaFold P20490
Predicted Effect probably damaging
Transcript: ENSMUST00000025583
AA Change: Y179H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025583
Gene: ENSMUSG00000024680
AA Change: Y179H

DomainStartEndE-ValueType
Pfam:CD20 52 121 4e-20 PFAM
transmembrane domain 134 156 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164792
AA Change: Y216H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127373
Gene: ENSMUSG00000024680
AA Change: Y216H

DomainStartEndE-ValueType
Pfam:CD20 52 195 6e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186978
AA Change: Y106H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140628
Gene: ENSMUSG00000024680
AA Change: Y106H

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189641
AA Change: Y183H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139841
Gene: ENSMUSG00000024680
AA Change: Y183H

DomainStartEndE-ValueType
Pfam:CD20 52 120 2.1e-20 PFAM
transmembrane domain 140 162 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.9%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,343,757 (GRCm39) Q480L probably benign Het
Arid4b T A 13: 14,303,792 (GRCm39) D72E probably benign Het
Avil C T 10: 126,844,175 (GRCm39) Q245* probably null Het
BC048679 T C 7: 81,146,612 (GRCm39) S2G possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cacna1d T C 14: 29,773,622 (GRCm39) T1723A probably benign Het
Cfap91 T C 16: 38,152,604 (GRCm39) D202G probably damaging Het
Chil3 A T 3: 106,071,495 (GRCm39) Y56* probably null Het
Clec2i A G 6: 128,872,384 (GRCm39) E172G probably damaging Het
Crybg1 C T 10: 43,842,337 (GRCm39) D1785N probably damaging Het
Csmd1 G A 8: 16,087,260 (GRCm39) R1930W probably damaging Het
D430041D05Rik A C 2: 103,979,371 (GRCm39) S2019A possibly damaging Het
Ep300 T A 15: 81,525,512 (GRCm39) Y1445* probably null Het
Gne A G 4: 44,060,210 (GRCm39) I61T probably damaging Het
Ifit3b A T 19: 34,588,947 (GRCm39) Q41L possibly damaging Het
Kplce T C 3: 92,776,354 (GRCm39) T110A possibly damaging Het
Llgl2 A G 11: 115,734,141 (GRCm39) probably null Het
Mast3 T C 8: 71,239,376 (GRCm39) I417V probably benign Het
Mettl21e T A 1: 44,257,295 (GRCm39) I8F probably benign Het
Naip6 C G 13: 100,435,675 (GRCm39) E949D probably benign Het
Nbea T C 3: 55,994,874 (GRCm39) T181A probably benign Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Olfm3 A T 3: 114,916,328 (GRCm39) Y400F probably benign Het
Or12d2 A G 17: 37,625,021 (GRCm39) S85P probably damaging Het
Or1e33 A G 11: 73,738,240 (GRCm39) V237A probably benign Het
Or2a25 A T 6: 42,888,852 (GRCm39) T132S probably benign Het
Or2y1e A G 11: 49,218,808 (GRCm39) D190G probably benign Het
Pappa2 T C 1: 158,764,438 (GRCm39) S358G probably benign Het
Pde4dip C A 3: 97,700,564 (GRCm39) E259* probably null Het
Phlpp2 T A 8: 110,655,197 (GRCm39) L664Q probably damaging Het
Prpf8 A G 11: 75,390,635 (GRCm39) K1262R possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Saal1 GGCTTGCACGCCGT G 7: 46,349,064 (GRCm39) probably null Het
Sec31a C T 5: 100,530,671 (GRCm39) V701I probably benign Het
Smarca2 A T 19: 26,729,286 (GRCm39) R12S possibly damaging Het
Spocd1 T A 4: 129,847,423 (GRCm39) C537* probably null Het
Syt14 T C 1: 192,584,161 (GRCm39) E701G probably damaging Het
Taf3 T C 2: 9,923,028 (GRCm39) Y32C possibly damaging Het
Tfeb T C 17: 48,100,735 (GRCm39) probably null Het
Ttc13 C A 8: 125,426,426 (GRCm39) R168L probably damaging Het
Vmn2r11 T A 5: 109,201,350 (GRCm39) N385Y probably damaging Het
Vmn2r54 T C 7: 12,363,792 (GRCm39) K367R 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
R6666:Ms4a2 UTSW 19 11,595,787 (GRCm39) missense probably benign 0.31
R9545:Ms4a2 UTSW 19 11,596,237 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AGAGTGGCATCTGCAGAAC -3'
(R):5'- GGCCAACCCATCTGATCTAG -3'

Sequencing Primer
(F):5'- TGGCATCTGCAGAACAATCCAATTG -3'
(R):5'- AACCCATCTGATCTAGTTTCTGGAC -3'
Posted On 2018-09-12