Incidental Mutation 'IGL00579:Gpr83'
ID 4935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpr83
Ensembl Gene ENSMUSG00000031932
Gene Name G protein-coupled receptor 83
Synonyms RP39, glucocorticoid-induced receptor, GIR, Gir, Gpr72, RP105, RP82
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # IGL00579
Quality Score
Status
Chromosome 9
Chromosomal Location 14771506-14782085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14771897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 23 (V23A)
Ref Sequence ENSEMBL: ENSMUSP00000111287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034408] [ENSMUST00000115624]
AlphaFold P30731
Predicted Effect probably benign
Transcript: ENSMUST00000034408
AA Change: V23A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034408
Gene: ENSMUSG00000031932
AA Change: V23A

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
AA Change: V23A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111287
Gene: ENSMUSG00000031932
AA Change: V23A

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
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T C 5: 24,773,794 (GRCm39) E365G possibly damaging Het
Adamts12 T C 15: 11,152,100 (GRCm39) Y197H probably benign Het
Cept1 A T 3: 106,413,119 (GRCm39) V202E possibly damaging Het
Cfap53 A T 18: 74,438,611 (GRCm39) K263* probably null Het
Dennd3 T C 15: 73,412,691 (GRCm39) I451T possibly damaging Het
Dync2h1 A C 9: 7,035,728 (GRCm39) probably benign Het
Egf T A 3: 129,491,447 (GRCm39) H850L probably benign Het
Gm11595 T C 11: 99,662,868 (GRCm39) T271A unknown Het
Gorab T C 1: 163,222,256 (GRCm39) E142G probably damaging Het
Gpat4 A G 8: 23,672,791 (GRCm39) S20P probably damaging Het
Il13ra2 A G X: 146,177,386 (GRCm39) Y146H probably damaging Het
Kcnj16 C T 11: 110,916,034 (GRCm39) T232M probably benign Het
Mdfic A T 6: 15,741,073 (GRCm39) I61F possibly damaging Het
Mmp3 G T 9: 7,445,894 (GRCm39) probably benign Het
Olr1 C T 6: 129,470,486 (GRCm39) R227K probably benign Het
Otof T A 5: 30,556,666 (GRCm39) I257F possibly damaging Het
Oxsr1 T A 9: 119,088,277 (GRCm39) R43S probably damaging Het
Pacc1 T C 1: 191,060,405 (GRCm39) V21A unknown Het
Prkdc A G 16: 15,482,103 (GRCm39) D382G probably damaging Het
Slc35b2 G T 17: 45,875,886 (GRCm39) V81L probably damaging Het
Thumpd3 G A 6: 113,024,622 (GRCm39) R72H possibly damaging Het
Tsga10 G A 1: 37,874,534 (GRCm39) T117I probably damaging Het
Vps13a T A 19: 16,684,726 (GRCm39) T953S probably benign Het
Wdr62 A C 7: 29,967,320 (GRCm39) C311W probably damaging Het
Wdr74 A G 19: 8,716,830 (GRCm39) T247A possibly damaging Het
Zbtb26 A T 2: 37,326,454 (GRCm39) V194D possibly damaging Het
Zfp639 A T 3: 32,574,626 (GRCm39) E417V probably damaging Het
Other mutations in Gpr83
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4438:Gpr83 UTSW 9 14,776,134 (GRCm39) missense probably damaging 0.99
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
Posted On 2012-04-20