Incidental Mutation 'R3925:Ms4a2'
ID 308257
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 040916-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R3925 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 11592887-11601083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11596312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 139 (M139T)
Ref Sequence ENSEMBL: ENSMUSP00000127373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025583] [ENSMUST00000164792] [ENSMUST00000186978] [ENSMUST00000189641]
AlphaFold P20490
Predicted Effect probably benign
Transcript: ENSMUST00000025583
SMART Domains Protein: ENSMUSP00000025583
Gene: ENSMUSG00000024680

DomainStartEndE-ValueType
Pfam:CD20 52 121 4e-20 PFAM
transmembrane domain 134 156 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164792
AA Change: M139T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000127373
Gene: ENSMUSG00000024680
AA Change: M139T

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
SMART Domains Protein: ENSMUSP00000139841
Gene: ENSMUSG00000024680

DomainStartEndE-ValueType
Pfam:CD20 52 120 2.1e-20 PFAM
transmembrane domain 140 162 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (30/31)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,726,891 (GRCm39) T487I possibly damaging Het
Amn T C 12: 111,242,114 (GRCm39) V367A possibly damaging Het
Becn2 T C 1: 175,748,852 (GRCm39) V306A probably benign Het
C230029F24Rik AGAAAG A 1: 49,350,088 (GRCm39) noncoding transcript Het
Cdkl1 G T 12: 69,803,373 (GRCm39) R168S probably damaging Het
Cfap43 T C 19: 47,785,555 (GRCm39) K445R probably benign Het
Crct1 C A 3: 92,922,014 (GRCm39) probably benign Het
Eif4e G A 3: 138,261,198 (GRCm39) G164D probably damaging Het
Eno1 T C 4: 150,324,025 (GRCm39) probably null Het
Hmcn2 G A 2: 31,343,169 (GRCm39) R4565Q probably benign Het
Itgal A T 7: 126,923,709 (GRCm39) probably benign Het
Klhl1 A T 14: 96,584,316 (GRCm39) C305S possibly damaging Het
Nr2e3 C T 9: 59,855,716 (GRCm39) R213H probably damaging Het
Onecut2 A G 18: 64,474,591 (GRCm39) K381E probably damaging Het
Or2t43 T A 11: 58,457,652 (GRCm39) H173L probably benign Het
Or52n1 T A 7: 104,383,396 (GRCm39) E58D probably benign Het
Or5t17 A G 2: 86,832,718 (GRCm39) Y135C possibly damaging Het
Pabpc1l T A 2: 163,869,596 (GRCm39) probably benign Het
Prim2 A G 1: 33,572,380 (GRCm39) L253P probably damaging Het
Pycr1 T C 11: 120,532,961 (GRCm39) T100A probably benign Het
Qrfpr T C 3: 36,276,072 (GRCm39) N106S possibly damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Selenoi T A 5: 30,461,086 (GRCm39) D107E probably damaging Het
Synrg C T 11: 83,931,725 (GRCm39) P1321S probably benign Het
Trgv7 A G 13: 19,362,644 (GRCm39) Y111C probably damaging Het
Trp53rkb A G 2: 166,637,392 (GRCm39) Y116C probably damaging Het
Usp34 T A 11: 23,293,640 (GRCm39) F245I probably benign Het
Utrn C T 10: 12,573,786 (GRCm39) V1095I probably benign Het
Xpnpep1 T C 19: 52,980,128 (GRCm39) H632R probably damaging Het
Zfp735 T C 11: 73,601,950 (GRCm39) I298T probably benign Het
Zfp953 T A 13: 67,496,002 (GRCm39) Y13F probably damaging Het
Other mutations in Ms4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- ACCTTAAGGAATGTGGCCAGG -3'
(R):5'- CCCTATTTAACTGGGGTTTGGAAC -3'

Sequencing Primer
(F):5'- GGAGTAAGACCATTACCTCCTTAG -3'
(R):5'- CCAGTTTTGAGTTACTATACAGGACC -3'
Posted On 2015-04-17