Incidental Mutation 'IGL02117:Rgs7bp'
ID 280426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs7bp
Ensembl Gene ENSMUSG00000021719
Gene Name regulator of G-protein signalling 7 binding protein
Synonyms R7bp, D13Bwg1146e, A930030I01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02117
Quality Score
Status
Chromosome 13
Chromosomal Location 105082412-105191438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105088087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 229 (D229G)
Ref Sequence ENSEMBL: ENSMUSP00000066614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063551]
AlphaFold Q8BQP9
Predicted Effect possibly damaging
Transcript: ENSMUST00000063551
AA Change: D229G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066614
Gene: ENSMUSG00000021719
AA Change: D229G

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
coiled coil region 194 221 N/A INTRINSIC
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 protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit normal behavior and brain morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rhobtb3 C T 13: 76,025,547 (GRCm39) S523N probably damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Rgs7bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0607:Rgs7bp UTSW 13 105,103,610 (GRCm39) missense probably benign 0.02
R1938:Rgs7bp UTSW 13 105,088,090 (GRCm39) missense probably damaging 1.00
R2151:Rgs7bp UTSW 13 105,100,597 (GRCm39) missense probably damaging 1.00
R3932:Rgs7bp UTSW 13 105,189,506 (GRCm39) missense probably benign 0.00
R3933:Rgs7bp UTSW 13 105,189,506 (GRCm39) missense probably benign 0.00
R4686:Rgs7bp UTSW 13 105,100,597 (GRCm39) missense probably damaging 1.00
R4828:Rgs7bp UTSW 13 105,189,532 (GRCm39) missense possibly damaging 0.59
R4944:Rgs7bp UTSW 13 105,088,072 (GRCm39) missense probably benign 0.29
R7181:Rgs7bp UTSW 13 105,119,382 (GRCm39) missense possibly damaging 0.85
R7786:Rgs7bp UTSW 13 105,190,568 (GRCm39) missense probably benign 0.01
R8118:Rgs7bp UTSW 13 105,189,629 (GRCm39) missense probably damaging 1.00
R8190:Rgs7bp UTSW 13 105,189,617 (GRCm39) missense probably damaging 1.00
R8481:Rgs7bp UTSW 13 105,190,716 (GRCm39) missense probably damaging 1.00
R9277:Rgs7bp UTSW 13 105,100,618 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16