Incidental Mutation 'IGL01107:Fcgrt'
ID51552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcgrt
Ensembl Gene ENSMUSG00000003420
Gene NameFc receptor, IgG, alpha chain transporter
Synonymsneonatal Fc receptor, FcRn
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01107
Quality Score
Status
Chromosome7
Chromosomal Location45092990-45103851 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45093328 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 343 (D343G)
Ref Sequence ENSEMBL: ENSMUSP00000147496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003512] [ENSMUST00000019683] [ENSMUST00000209761] [ENSMUST00000210469] [ENSMUST00000210527] [ENSMUST00000210642] [ENSMUST00000210734] [ENSMUST00000211352]
Predicted Effect probably damaging
Transcript: ENSMUST00000003512
AA Change: D339G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003512
Gene: ENSMUSG00000003420
AA Change: D339G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:MHC_I 24 197 1.2e-59 PFAM
IGc1 216 285 2.42e-11 SMART
transmembrane domain 300 322 N/A INTRINSIC
low complexity region 333 351 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019683
SMART Domains Protein: ENSMUSP00000019683
Gene: ENSMUSG00000019539

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Blast:EFh 79 109 9e-9 BLAST
EFh 117 145 1.23e1 SMART
Blast:EFh 167 195 1e-7 BLAST
EFh 204 232 1.62e0 SMART
Blast:EFh 244 272 7e-6 BLAST
EFh 281 309 1.64e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210355
Predicted Effect probably benign
Transcript: ENSMUST00000210469
Predicted Effect probably benign
Transcript: ENSMUST00000210527
Predicted Effect probably damaging
Transcript: ENSMUST00000210642
AA Change: D343G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000210734
Predicted Effect probably benign
Transcript: ENSMUST00000211352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211668
Predicted Effect probably benign
Transcript: ENSMUST00000211760
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutation of this gene results in defective perinatal transport of maternal IgG, increased clearance of IgG, and diminished IgG antibody response after immunization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,797,936 F215Y probably damaging Het
2700049A03Rik T C 12: 71,194,468 probably null Het
Akip1 C T 7: 109,711,838 T195M probably damaging Het
Arhgef16 T C 4: 154,280,244 N631S probably benign Het
Brat1 C T 5: 140,717,177 S544L probably damaging Het
Cfap65 C T 1: 74,919,183 probably null Het
D17Wsu92e A T 17: 27,786,069 probably null Het
Defa22 T A 8: 21,163,037 probably null Het
Dnajc4 C T 19: 6,989,501 R153H probably benign Het
Dusp11 A G 6: 85,952,370 probably benign Het
E2f4 T A 8: 105,304,177 probably benign Het
Ece1 T A 4: 137,938,658 L271Q probably damaging Het
Igsf10 T C 3: 59,331,524 E412G probably damaging Het
Il4ra G T 7: 125,575,914 L431F possibly damaging Het
Krt86 T A 15: 101,475,425 L200Q probably damaging Het
Lpcat1 T A 13: 73,494,828 F126I probably damaging Het
Prag1 A G 8: 36,099,931 T79A probably benign Het
Pramef12 A T 4: 144,393,094 I301N probably benign Het
Psg29 G T 7: 17,204,925 L41F probably benign Het
Rai14 C T 15: 10,599,711 probably benign Het
Reg3a A G 6: 78,383,245 D136G probably benign Het
Rif1 A G 2: 52,111,303 T1590A probably benign Het
Rorb A T 19: 18,957,328 L300* probably null Het
Sin3b T C 8: 72,731,105 C150R possibly damaging Het
Smarcc1 C A 9: 110,221,937 H942N probably damaging Het
Tas2r105 A G 6: 131,687,111 V118A probably benign Het
Tmem131 T C 1: 36,829,581 S388G probably damaging Het
Ttll9 C A 2: 153,002,889 probably benign Het
Ush1c A G 7: 46,209,901 L498P probably damaging Het
Vmn2r100 A G 17: 19,521,356 Y110C probably damaging Het
Zbtb11 T C 16: 56,006,007 Y800H probably damaging Het
Zdhhc20 T A 14: 57,865,589 E101V probably damaging Het
Other mutations in Fcgrt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Fcgrt APN 7 45095258 missense probably damaging 0.96
R0355:Fcgrt UTSW 7 45103069 start codon destroyed unknown
R0408:Fcgrt UTSW 7 45101939 missense probably damaging 1.00
R4989:Fcgrt UTSW 7 45101948 missense probably benign 0.09
R6156:Fcgrt UTSW 7 45102060 missense probably benign 0.05
R6190:Fcgrt UTSW 7 45102198 splice site probably null
R7001:Fcgrt UTSW 7 45102042 missense probably benign 0.03
R7177:Fcgrt UTSW 7 45101997 missense probably benign 0.00
R7605:Fcgrt UTSW 7 45095251 nonsense probably null
R7729:Fcgrt UTSW 7 45095373 missense probably damaging 1.00
R8201:Fcgrt UTSW 7 45095210 missense possibly damaging 0.54
R8377:Fcgrt UTSW 7 45102563 missense probably damaging 1.00
Posted On2013-06-21