Incidental Mutation 'R1653:Gpr183'
ID 188881
Institutional Source Beutler Lab
Gene Symbol Gpr183
Ensembl Gene ENSMUSG00000051212
Gene Name G protein-coupled receptor 183
Synonyms Ebi2
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 122189963-122202607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122191675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 282 (F282S)
Ref Sequence ENSEMBL: ENSMUSP00000052404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039803] [ENSMUST00000049872] [ENSMUST00000226998] [ENSMUST00000227267]
AlphaFold Q3U6B2
Predicted Effect probably benign
Transcript: ENSMUST00000039803
SMART Domains Protein: ENSMUSP00000043245
Gene: ENSMUSG00000041765

transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 92 114 N/A INTRINSIC
transmembrane domain 129 151 N/A INTRINSIC
transmembrane domain 164 186 N/A INTRINSIC
low complexity region 261 269 N/A INTRINSIC
UBA 307 344 1.11e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000049872
AA Change: F282S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052404
Gene: ENSMUSG00000051212
AA Change: F282S

Pfam:7TM_GPCR_Srx 35 167 4.6e-9 PFAM
Pfam:7TM_GPCR_Srsx 38 319 4e-10 PFAM
Pfam:7tm_1 44 304 1.4e-47 PFAM
low complexity region 323 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226998
Predicted Effect probably benign
Transcript: ENSMUST00000227267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227936
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to altered B cell migration during immune activation. Mice homozygous for a null allele exhibit decreased plasmacytoid and myeloid dendritic cell number, and increased type I interferon responses upon TLR ligand challenge or viral infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably damaging Het
Other mutations in Gpr183
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1856:Gpr183 UTSW 14 122,192,153 (GRCm39) missense probably benign 0.01
R2186:Gpr183 UTSW 14 122,191,727 (GRCm39) missense probably benign 0.00
R2422:Gpr183 UTSW 14 122,191,589 (GRCm39) missense probably damaging 1.00
R4630:Gpr183 UTSW 14 122,192,262 (GRCm39) nonsense probably null
R4630:Gpr183 UTSW 14 122,192,261 (GRCm39) missense probably damaging 1.00
R4670:Gpr183 UTSW 14 122,192,149 (GRCm39) missense probably damaging 1.00
R4671:Gpr183 UTSW 14 122,192,149 (GRCm39) missense probably damaging 1.00
R4976:Gpr183 UTSW 14 122,192,275 (GRCm39) missense possibly damaging 0.88
R5119:Gpr183 UTSW 14 122,192,275 (GRCm39) missense possibly damaging 0.88
R5382:Gpr183 UTSW 14 122,192,333 (GRCm39) missense possibly damaging 0.95
R6952:Gpr183 UTSW 14 122,191,897 (GRCm39) missense possibly damaging 0.62
R7426:Gpr183 UTSW 14 122,192,156 (GRCm39) missense possibly damaging 0.69
R7682:Gpr183 UTSW 14 122,192,152 (GRCm39) missense possibly damaging 0.50
R7722:Gpr183 UTSW 14 122,192,270 (GRCm39) missense probably damaging 0.98
S24628:Gpr183 UTSW 14 122,191,888 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09