Incidental Mutation 'R4438:Gpr83'
ID 329630
Institutional Source Beutler Lab
Gene Symbol Gpr83
Ensembl Gene ENSMUSG00000031932
Gene Name G protein-coupled receptor 83
Synonyms RP39, glucocorticoid-induced receptor, GIR, Gir, Gpr72, RP105, RP82
MMRRC Submission 041703-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R4438 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 14771506-14782085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14776134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 152 (Y152H)
Ref Sequence ENSEMBL: ENSMUSP00000034408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034408] [ENSMUST00000115624]
AlphaFold P30731
Predicted Effect probably damaging
Transcript: ENSMUST00000034408
AA Change: Y152H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034408
Gene: ENSMUSG00000031932
AA Change: Y152H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:7tm_4 78 271 2.4e-8 PFAM
Pfam:7TM_GPCR_Srsx 82 360 6.6e-16 PFAM
Pfam:7tm_1 88 345 9e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115624
SMART Domains Protein: ENSMUSP00000111287
Gene: ENSMUSG00000031932

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:7tm_1 88 133 1.1e-10 PFAM
Pfam:7TM_GPCR_Srsx 128 318 1.8e-6 PFAM
Pfam:7tm_1 129 303 1.4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133278
Meta Mutation Damage Score 0.1608 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (52/52)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit normal regulatory T cell development. Mice homozygous for a different targeted allele exhibit attenuated stress-evoked anxiety, increased sucrose preference and delayed spatial learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T A 2: 58,367,739 (GRCm39) I141F probably benign Het
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Adck1 C T 12: 88,397,920 (GRCm39) Q185* probably null Het
Adgrb3 T C 1: 25,870,108 (GRCm39) probably benign Het
Als2cl T C 9: 110,714,466 (GRCm39) S105P probably damaging Het
Asns C A 6: 7,675,320 (GRCm39) A561S probably benign Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Bst1 A T 5: 43,982,682 (GRCm39) probably null Het
Cdc37l1 T C 19: 28,985,021 (GRCm39) F224L probably damaging Het
Csmd3 G A 15: 47,763,191 (GRCm39) T1215I possibly damaging Het
Csnk1e A T 15: 79,305,129 (GRCm39) S323T probably benign Het
Cyp2j7 G T 4: 96,105,646 (GRCm39) T288K probably benign Het
Dnaaf5 T A 5: 139,149,147 (GRCm39) I482N probably damaging Het
Dpy19l3 A G 7: 35,392,284 (GRCm39) I636T probably damaging Het
Enpep T G 3: 129,077,740 (GRCm39) T626P possibly damaging Het
Fgfr2 G A 7: 129,774,660 (GRCm39) R509* probably null Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Hdac7 T C 15: 97,705,596 (GRCm39) E400G probably damaging Het
Hypk A T 2: 121,288,475 (GRCm39) E82V probably damaging Het
Iqub C A 6: 24,505,867 (GRCm39) A14S probably benign Het
Lias T C 5: 65,552,787 (GRCm39) M130T probably damaging Het
Lingo4 T C 3: 94,310,204 (GRCm39) S381P possibly damaging Het
Mdn1 A G 4: 32,704,635 (GRCm39) T1536A probably damaging Het
Moxd2 T A 6: 40,860,996 (GRCm39) D265V probably damaging Het
Mtbp C A 15: 55,466,611 (GRCm39) S541R probably benign Het
Or10j27 C A 1: 172,957,869 (GRCm39) C305F probably benign Het
Or2a54 T C 6: 43,093,221 (GRCm39) S182P probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pcsk9 G T 4: 106,316,156 (GRCm39) Q96K probably benign Het
Pramel14 T C 4: 143,718,192 (GRCm39) Y417C probably damaging Het
Rln1 A T 19: 29,311,962 (GRCm39) F12Y possibly damaging Het
Setd1a A G 7: 127,384,903 (GRCm39) N585D possibly damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Smarcal1 T C 1: 72,650,637 (GRCm39) probably benign Het
Snx19 G T 9: 30,339,895 (GRCm39) L344F probably benign Het
Srfbp1 T C 18: 52,621,403 (GRCm39) C155R probably benign Het
Sspo C T 6: 48,464,287 (GRCm39) R3914C probably damaging Het
Tacc2 G A 7: 130,225,271 (GRCm39) S652N probably damaging Het
Tmub1 A C 5: 24,651,068 (GRCm39) L197R probably damaging Het
Tnc T C 4: 63,926,066 (GRCm39) T905A possibly damaging Het
Tnfrsf21 G T 17: 43,398,733 (GRCm39) R613L possibly damaging Het
Ugt3a1 A T 15: 9,351,283 (GRCm39) E97D probably benign Het
Vmn2r25 A G 6: 123,816,756 (GRCm39) I275T probably benign Het
Zfp1010 T G 2: 176,956,889 (GRCm39) Q203P possibly damaging Het
Zfp568 G T 7: 29,721,721 (GRCm39) C221F probably benign Het
Zfp91 C A 19: 12,755,385 (GRCm39) E217* probably null Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign Het
Other mutations in Gpr83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Gpr83 APN 9 14,771,897 (GRCm39) missense probably benign 0.00
bland UTSW 9 14,778,279 (GRCm39) critical splice donor site probably null
R0243:Gpr83 UTSW 9 14,776,138 (GRCm39) missense possibly damaging 0.96
R0349:Gpr83 UTSW 9 14,779,563 (GRCm39) missense probably damaging 1.00
R0731:Gpr83 UTSW 9 14,779,940 (GRCm39) missense probably benign 0.00
R1519:Gpr83 UTSW 9 14,779,493 (GRCm39) missense probably null 1.00
R1678:Gpr83 UTSW 9 14,778,145 (GRCm39) missense probably damaging 1.00
R1826:Gpr83 UTSW 9 14,779,629 (GRCm39) missense possibly damaging 0.53
R1827:Gpr83 UTSW 9 14,779,629 (GRCm39) missense possibly damaging 0.53
R1828:Gpr83 UTSW 9 14,779,629 (GRCm39) missense possibly damaging 0.53
R2938:Gpr83 UTSW 9 14,776,167 (GRCm39) missense probably benign 0.23
R3760:Gpr83 UTSW 9 14,772,034 (GRCm39) missense probably benign 0.03
R4038:Gpr83 UTSW 9 14,772,073 (GRCm39) missense possibly damaging 0.77
R4657:Gpr83 UTSW 9 14,778,279 (GRCm39) critical splice donor site probably null
R4731:Gpr83 UTSW 9 14,777,470 (GRCm39) intron probably benign
R5150:Gpr83 UTSW 9 14,772,101 (GRCm39) missense probably damaging 1.00
R7770:Gpr83 UTSW 9 14,778,170 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGAAAAGTCTCCTGAAGAGG -3'
(R):5'- TGCCCAAATTGATCAACAAGGAG -3'

Sequencing Primer
(F):5'- CTGAAAAGTCTCCTGAAGAGGTATTC -3'
(R):5'- GAGGCAAGCACACACGCTG -3'
Posted On 2015-07-21