Incidental Mutation 'IGL03270:Fcmr'
ID415226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcmr
Ensembl Gene ENSMUSG00000042474
Gene NameFc fragment of IgM receptor
Synonyms1810037B05Rik, FcmuR, Faim3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03270
Quality Score
Status
Chromosome1
Chromosomal Location130865669-130880791 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 130876042 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 194 (R194S)
Ref Sequence ENSEMBL: ENSMUSP00000048303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038829]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038829
AA Change: R194S

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000048303
Gene: ENSMUSG00000042474
AA Change: R194S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:V-set 21 122 1.3e-10 PFAM
low complexity region 212 223 N/A INTRINSIC
transmembrane domain 264 283 N/A INTRINSIC
low complexity region 285 311 N/A INTRINSIC
low complexity region 344 363 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149355
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit a slight decrease in B cell numbers reduced sensitivity to Gal-induced liver damage, increased granulocyte production of ROS and increased sensitivity to infection by Listeria monocytogenes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,609,727 probably null Het
Fmo2 A G 1: 162,882,026 F264S probably damaging Het
Gfra2 A G 14: 70,925,904 D209G possibly damaging Het
Gm4951 A G 18: 60,245,476 K28E probably benign Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kifap3 T A 1: 163,848,733 M419K probably benign Het
Lgr6 A C 1: 134,997,704 I133S probably damaging Het
Med13l A C 5: 118,731,430 N811T probably damaging Het
Olfr1223 A G 2: 89,144,745 F93L probably damaging Het
Olfr420 T A 1: 174,159,553 M260K probably benign Het
Pappa2 T A 1: 158,765,067 D1580V possibly damaging Het
Ppp4r2 T G 6: 100,863,125 N72K probably damaging Het
Prr27 T C 5: 87,835,678 probably benign Het
Rad51d A G 11: 82,881,594 probably benign Het
Rel T C 11: 23,742,584 N483S probably benign Het
Scn9a A G 2: 66,484,014 F1776L probably damaging Het
Slco5a1 G A 1: 12,872,028 T798I probably benign Het
Ttn T C 2: 76,776,467 D18033G probably damaging Het
Vmn1r46 T A 6: 89,976,774 S202T probably damaging Het
Vmn2r110 T G 17: 20,583,516 M266L probably benign Het
Vmn2r26 A T 6: 124,050,819 D506V probably benign Het
Zbtb1 T C 12: 76,385,515 S92P possibly damaging Het
Other mutations in Fcmr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Fcmr APN 1 130875122 missense probably benign 0.06
IGL01652:Fcmr APN 1 130878507 missense probably benign 0.25
IGL02106:Fcmr APN 1 130875135 missense probably benign
R1635:Fcmr UTSW 1 130876185 splice site probably null
R1651:Fcmr UTSW 1 130878251 missense probably benign
R1728:Fcmr UTSW 1 130875974 missense probably benign
R1728:Fcmr UTSW 1 130878269 missense probably benign 0.00
R1729:Fcmr UTSW 1 130875974 missense probably benign
R1729:Fcmr UTSW 1 130878269 missense probably benign 0.00
R1730:Fcmr UTSW 1 130875974 missense probably benign
R1730:Fcmr UTSW 1 130878269 missense probably benign 0.00
R1739:Fcmr UTSW 1 130875974 missense probably benign
R1739:Fcmr UTSW 1 130878269 missense probably benign 0.00
R1762:Fcmr UTSW 1 130875974 missense probably benign
R1762:Fcmr UTSW 1 130878269 missense probably benign 0.00
R1783:Fcmr UTSW 1 130875974 missense probably benign
R1783:Fcmr UTSW 1 130878269 missense probably benign 0.00
R1784:Fcmr UTSW 1 130875974 missense probably benign
R1784:Fcmr UTSW 1 130878269 missense probably benign 0.00
R1785:Fcmr UTSW 1 130875974 missense probably benign
R1785:Fcmr UTSW 1 130878269 missense probably benign 0.00
R2037:Fcmr UTSW 1 130878333 missense possibly damaging 0.61
R6111:Fcmr UTSW 1 130877829 missense probably damaging 0.96
R6217:Fcmr UTSW 1 130878323 missense probably damaging 0.96
R6538:Fcmr UTSW 1 130875025 missense possibly damaging 0.72
R6712:Fcmr UTSW 1 130877851 missense probably damaging 0.99
R6965:Fcmr UTSW 1 130875987 missense possibly damaging 0.65
R7765:Fcmr UTSW 1 130874288 missense probably damaging 1.00
X0025:Fcmr UTSW 1 130874267 missense probably damaging 1.00
Posted On2016-08-02