Incidental Mutation 'R6952:Gpr183'
ID 543302
Institutional Source Beutler Lab
Gene Symbol Gpr183
Ensembl Gene ENSMUSG00000051212
Gene Name G protein-coupled receptor 183
Synonyms Ebi2
MMRRC Submission 045064-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6952 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 122189963-122202607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122191897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 208 (I208T)
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

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000049872
AA Change: I208T

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000052404
Gene: ENSMUSG00000051212
AA Change: I208T

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T G 16: 20,368,484 (GRCm39) probably null Het
Acap1 C A 11: 69,776,343 (GRCm39) V219L probably benign Het
Arpp21 G A 9: 111,955,550 (GRCm39) P530S probably damaging Het
Atp6v1b1 T C 6: 83,731,792 (GRCm39) V224A probably damaging Het
Brd3 T C 2: 27,344,371 (GRCm39) D453G probably damaging Het
Btbd10 A T 7: 112,951,150 (GRCm39) probably null Het
Ccdc148 T C 2: 58,713,657 (GRCm39) H498R probably damaging Het
Cga A T 4: 34,905,171 (GRCm39) Y65F possibly damaging Het
Chd7 A T 4: 8,856,797 (GRCm39) H136L probably damaging Het
Chit1 T C 1: 134,071,022 (GRCm39) Y34H probably damaging Het
Cimap2 C G 4: 106,467,596 (GRCm39) probably null Het
Dapk2 C G 9: 66,161,904 (GRCm39) R271G probably benign Het
Dnhd1 T G 7: 105,362,895 (GRCm39) V3819G probably damaging Het
Dsg3 A T 18: 20,658,216 (GRCm39) I276F possibly damaging Het
Dusp1 T C 17: 26,726,577 (GRCm39) S162G probably benign Het
Entrep1 A T 19: 23,962,082 (GRCm39) M307K possibly damaging Het
Gga2 C A 7: 121,598,111 (GRCm39) A328S probably benign Het
Haspin T C 11: 73,026,971 (GRCm39) D706G possibly damaging Het
Hdac5 T C 11: 102,095,786 (GRCm39) I338V probably benign Het
Ik C T 18: 36,886,613 (GRCm39) R362C probably damaging Het
Kdm4c T G 4: 74,275,587 (GRCm39) C754W probably damaging Het
Limk1 T A 5: 134,699,332 (GRCm39) I142F possibly damaging Het
Mccc2 T C 13: 100,104,234 (GRCm39) E305G probably benign Het
Mdm1 A G 10: 118,003,962 (GRCm39) D639G probably damaging Het
Mefv T G 16: 3,528,744 (GRCm39) T566P probably damaging Het
Mep1b G A 18: 21,221,727 (GRCm39) V226I probably benign Het
Mgmt T C 7: 136,553,064 (GRCm39) M19T probably benign Het
Mrgpra6 A T 7: 46,835,693 (GRCm39) S243T probably benign Het
Myh7 C T 14: 55,229,197 (GRCm39) R169Q probably damaging Het
Myo1b T C 1: 51,801,668 (GRCm39) I917V probably damaging Het
Or4a80 A T 2: 89,582,971 (GRCm39) M67K possibly damaging Het
Phlpp1 T C 1: 106,100,209 (GRCm39) L159P probably benign Het
Plekhh3 T C 11: 101,056,482 (GRCm39) E371G probably damaging Het
Rps6ka2 C A 17: 7,495,377 (GRCm39) D21E probably benign Het
Slc47a1 T A 11: 61,235,280 (GRCm39) M518L probably benign Het
Slitrk6 T C 14: 110,987,974 (GRCm39) T578A probably benign Het
Syne2 A T 12: 75,974,205 (GRCm39) K1133N possibly damaging Het
Taco1 T C 11: 105,963,942 (GRCm39) S234P probably benign Het
Trpv4 G A 5: 114,771,263 (GRCm39) S422F probably damaging Het
Tvp23b T A 11: 62,775,952 (GRCm39) D97E possibly damaging Het
Vmn1r37 A T 6: 66,708,523 (GRCm39) I13L probably benign Het
Vrk2 T A 11: 26,485,597 (GRCm39) K130N probably damaging Het
Wdfy4 C T 14: 32,681,923 (GRCm39) R3016Q probably damaging Het
Zfp383 T C 7: 29,614,380 (GRCm39) S212P probably benign Het
Other mutations in Gpr183
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1653:Gpr183 UTSW 14 122,191,675 (GRCm39) missense probably damaging 1.00
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
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
(F):5'- TGTGCTGAATGATGGCCAC -3'
(R):5'- CATAGACCGCTTCTTCGCTG -3'

Sequencing Primer
(F):5'- CTGAATGATGGCCACGTGGTAG -3'
(R):5'- ATACGCAAAGGGTGTCTGCC -3'
Posted On 2018-11-28