Incidental Mutation 'IGL01652:Fcmr'
ID102864
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 #IGL01652
Quality Score
Status
Chromosome1
Chromosomal Location130865669-130880791 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 130878507 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 363 (P363L)
Ref Sequence ENSEMBL: ENSMUSP00000048303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038829] [ENSMUST00000121040] [ENSMUST00000187650] [ENSMUST00000191279]
Predicted Effect probably benign
Transcript: ENSMUST00000038829
AA Change: P363L

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000048303
Gene: ENSMUSG00000042474
AA Change: P363L

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 probably benign
Transcript: ENSMUST00000121040
SMART Domains Protein: ENSMUSP00000113064
Gene: ENSMUSG00000026420

DomainStartEndE-ValueType
low complexity region 44 56 N/A INTRINSIC
IL10 76 219 1.14e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149355
Predicted Effect probably benign
Transcript: ENSMUST00000187650
SMART Domains Protein: ENSMUSP00000140149
Gene: ENSMUSG00000026420

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IL10 37 180 5.4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191279
SMART Domains Protein: ENSMUSP00000140821
Gene: ENSMUSG00000026420

DomainStartEndE-ValueType
low complexity region 44 56 N/A INTRINSIC
Blast:IL10 76 118 2e-21 BLAST
SCOP:d2ilk__ 80 119 2e-9 SMART
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk A T 17: 72,603,531 V60E probably damaging Het
Ank2 T C 3: 126,933,041 K868R probably benign Het
Ankrd13a A T 5: 114,791,336 D158V probably damaging Het
Arhgap12 G T 18: 6,061,853 N380K possibly damaging Het
Cpn1 A T 19: 43,986,094 F65L possibly damaging Het
Dlec1 T A 9: 119,143,907 H1496Q probably benign Het
Dock1 C T 7: 134,777,497 probably benign Het
Dok1 T C 6: 83,032,562 N143D probably damaging Het
Galk2 A G 2: 125,896,765 T171A probably benign Het
Hrh3 G T 2: 180,101,103 P244Q possibly damaging Het
Icam1 T C 9: 21,019,176 Y109H probably damaging Het
Nup93 T C 8: 94,296,559 V132A possibly damaging Het
Olfr1218 A T 2: 89,054,569 Y286N probably damaging Het
Pla2g4f T C 2: 120,302,235 I707V possibly damaging Het
Rpgrip1 G A 14: 52,145,492 probably benign Het
Sbf2 A T 7: 110,447,120 V290E probably damaging Het
Stard3 T G 11: 98,378,733 probably benign Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Trim35 T G 14: 66,308,801 V339G probably damaging Het
Vmn1r80 A G 7: 12,193,136 I58V probably benign Het
Other mutations in Fcmr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Fcmr APN 1 130875122 missense probably benign 0.06
IGL02106:Fcmr APN 1 130875135 missense probably benign
IGL03270:Fcmr APN 1 130876042 missense possibly damaging 0.63
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
X0025:Fcmr UTSW 1 130874267 missense probably damaging 1.00
Posted On2014-01-21