Incidental Mutation 'R9545:Ms4a2'
ID 720088
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R9545 (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 11596237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 164 (F164S)
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
AA Change: F127S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025583
Gene: ENSMUSG00000024680
AA Change: F127S

DomainStartEndE-ValueType
Pfam:CD20 52 121 4e-20 PFAM
transmembrane domain 134 156 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164792
AA Change: F164S

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127373
Gene: ENSMUSG00000024680
AA Change: F164S

DomainStartEndE-ValueType
Pfam:CD20 52 195 6e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186978
AA Change: F87S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140628
Gene: ENSMUSG00000024680
AA Change: F87S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,416,538 (GRCm39) L4100Q probably damaging Het
Acss2 C A 2: 155,403,716 (GRCm39) P652T probably damaging Het
Agl A T 3: 116,582,338 (GRCm39) I228N possibly damaging Het
Ap5m1 C G 14: 49,311,271 (GRCm39) Q114E possibly damaging Het
Apob C T 12: 8,033,890 (GRCm39) T201I possibly damaging Het
As3mt G A 19: 46,696,233 (GRCm39) V14I probably damaging Het
Atp1a4 T C 1: 172,078,464 (GRCm39) N258S probably benign Het
Atxn1l C T 8: 110,458,688 (GRCm39) V525M probably damaging Het
B4galnt4 T C 7: 140,644,804 (GRCm39) V208A probably benign Het
Bet1 A T 6: 4,077,973 (GRCm39) S89T probably damaging Het
Cdhr1 T G 14: 36,817,016 (GRCm39) N115T possibly damaging Het
Cstf1 C T 2: 172,212,885 (GRCm39) probably benign Het
Dcdc2c G T 12: 28,602,295 (GRCm39) T3K possibly damaging Het
Deup1 C T 9: 15,519,120 (GRCm39) E129K possibly damaging Het
Dgkg T C 16: 22,385,168 (GRCm39) E446G possibly damaging Het
Dolk A G 2: 30,176,016 (GRCm39) S10P probably benign Het
Gm1110 T C 9: 26,800,977 (GRCm39) T406A probably benign Het
Gm8439 C T 4: 120,445,957 (GRCm39) probably benign Het
Gna12 A G 5: 140,746,575 (GRCm39) I290T probably damaging Het
Gtf2h1 T C 7: 46,458,112 (GRCm39) probably null Het
Il4 C T 11: 53,504,837 (GRCm39) R76H probably damaging Het
Itgal T C 7: 126,929,422 (GRCm39) F1113S probably damaging Het
Kcnc3 T C 7: 44,245,357 (GRCm39) L549P probably damaging Het
Klhl26 T C 8: 70,904,164 (GRCm39) D582G probably damaging Het
Lhfpl5 C A 17: 28,799,079 (GRCm39) A196D probably damaging Het
Lipm T C 19: 34,090,392 (GRCm39) M191T probably benign Het
Lrp6 A G 6: 134,483,329 (GRCm39) Y459H probably damaging Het
Lzts1 C A 8: 69,591,286 (GRCm39) K287N probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mmp23 T A 4: 155,735,980 (GRCm39) Q224L probably benign Het
Ms4a13 C G 19: 11,147,332 (GRCm39) S194T unknown Het
Nudt15 A T 14: 73,760,918 (GRCm39) C58S probably damaging Het
Or2w25 A G 11: 59,504,275 (GRCm39) T162A probably benign Het
Or8h6 T C 2: 86,703,615 (GRCm39) I151V probably benign Het
Or9i1 A G 19: 13,839,217 (GRCm39) H20R possibly damaging Het
Panx3 A G 9: 37,575,437 (GRCm39) F142L probably damaging Het
Pik3r6 T C 11: 68,422,365 (GRCm39) Y255H probably damaging Het
Pnpt1 T C 11: 29,106,840 (GRCm39) V637A probably benign Het
Ppfibp2 T C 7: 107,337,504 (GRCm39) L602P probably damaging Het
Ppp2r3d T C 9: 101,089,214 (GRCm39) N370D probably benign Het
Ppp2r5d A T 17: 46,995,687 (GRCm39) I454N probably damaging Het
Pramel17 C A 4: 101,693,097 (GRCm39) C301F probably damaging Het
Radil A G 5: 142,492,392 (GRCm39) V412A probably benign Het
Reep3 TTGACAGATTTCATG TTG 10: 66,850,703 (GRCm39) probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skic3 T A 13: 76,259,832 (GRCm39) V44D probably damaging Het
Spink5 G A 18: 44,136,262 (GRCm39) V558I possibly damaging Het
Stxbp5l T C 16: 37,028,625 (GRCm39) probably null Het
Svs5 T A 2: 164,079,313 (GRCm39) Q198L possibly damaging Het
Thap2 A T 10: 115,208,834 (GRCm39) N95K probably benign Het
Tie1 A G 4: 118,336,112 (GRCm39) V718A probably benign Het
Trpm3 G A 19: 22,878,458 (GRCm39) E632K probably benign Het
Ube4a A T 9: 44,843,638 (GRCm39) probably null Het
Utp20 A G 10: 88,618,511 (GRCm39) I1163T probably benign Het
Vav2 C T 2: 27,173,351 (GRCm39) R491Q probably damaging Het
Wapl T A 14: 34,399,050 (GRCm39) F40I probably damaging Het
Wdfy3 A C 5: 102,100,957 (GRCm39) I220R Het
Xrra1 T A 7: 99,535,334 (GRCm39) V213D possibly damaging Het
Zwilch A T 9: 64,051,415 (GRCm39) V550E probably damaging 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
R6804:Ms4a2 UTSW 19 11,594,899 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTGATGACTCCAACCTTAAGG -3'
(R):5'- ACAGATCAGTTGGTCAGCTG -3'

Sequencing Primer
(F):5'- TCCAACCTTAAGGAATGTGGC -3'
(R):5'- AGTTGGTCAGCTGCTGCC -3'
Posted On 2022-07-18