Incidental Mutation 'R7786:Rgs7bp'
ID 599547
Institutional Source Beutler Lab
Gene Symbol Rgs7bp
Ensembl Gene ENSMUSG00000021719
Gene Name regulator of G-protein signalling 7 binding protein
Synonyms R7bp, D13Bwg1146e, A930030I01Rik
MMRRC Submission 045842-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7786 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 105082412-105191438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105190568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 52 (D52G)
Ref Sequence ENSEMBL: ENSMUSP00000066614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063551]
AlphaFold Q8BQP9
Predicted Effect probably benign
Transcript: ENSMUST00000063551
AA Change: D52G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000066614
Gene: ENSMUSG00000021719
AA Change: D52G

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
coiled coil region 194 221 N/A INTRINSIC
Meta Mutation Damage Score 0.0783 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (42/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 T C 18: 74,925,518 (GRCm39) S94P probably damaging Het
Adam18 C T 8: 25,101,134 (GRCm39) R676H probably benign Het
Akna A G 4: 63,313,199 (GRCm39) L308P probably benign Het
Ambra1 G C 2: 91,598,141 (GRCm39) V101L possibly damaging Het
Arnt A G 3: 95,392,267 (GRCm39) D377G probably damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cfap210 A T 2: 69,612,092 (GRCm39) W179R probably damaging Het
Cit C A 5: 116,001,077 (GRCm39) Q159K probably benign Het
Dnah1 A T 14: 30,984,478 (GRCm39) H3935Q probably damaging Het
Emc8 T C 8: 121,394,656 (GRCm39) Y21C probably damaging Het
Fcrla G T 1: 170,748,426 (GRCm39) P265Q possibly damaging Het
Gabbr1 A T 17: 37,380,955 (GRCm39) N766I probably damaging Het
Galnt14 T A 17: 74,016,976 (GRCm39) T27S probably benign Het
Garin2 T A 12: 78,766,403 (GRCm39) S391T probably benign Het
Gatad2b T C 3: 90,262,986 (GRCm39) I476T probably damaging Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Gtf2ird1 C A 5: 134,419,753 (GRCm39) G71* probably null Het
Hdac11 T A 6: 91,150,158 (GRCm39) L319* probably null Het
Hsd11b2 T A 8: 106,245,506 (GRCm39) W4R probably damaging Het
Katnip A G 7: 125,464,466 (GRCm39) I1278V probably benign Het
Krt76 T A 15: 101,798,965 (GRCm39) E240V probably damaging Het
Man2b1 C T 8: 85,812,085 (GRCm39) Q180* probably null Het
Megf8 T C 7: 25,017,120 (GRCm39) probably null Het
Mlh3 T C 12: 85,313,511 (GRCm39) T892A probably benign Het
Mmp21 C T 7: 133,276,764 (GRCm39) S413N probably benign Het
Nav1 T C 1: 135,397,733 (GRCm39) D812G probably damaging Het
Nox4 T A 7: 86,945,050 (GRCm39) I71N probably damaging Het
Oplah T A 15: 76,193,916 (GRCm39) I14F possibly damaging Het
Or51i2 G A 7: 103,689,930 (GRCm39) R309H unknown Het
Or52p1 T A 7: 104,266,925 (GRCm39) I13N probably benign Het
Or5w16 A T 2: 87,576,645 (GRCm39) Y35F probably damaging Het
Pik3ap1 A G 19: 41,310,024 (GRCm39) M432T probably damaging Het
Plin3 G A 17: 56,586,757 (GRCm39) T430I probably benign Het
Poc5 C A 13: 96,541,027 (GRCm39) Q399K possibly damaging Het
Ptprz1 G A 6: 23,036,992 (GRCm39) G2013R probably damaging Het
Tenm2 A C 11: 35,901,276 (GRCm39) F2488V probably damaging Het
Tnfaip8 G C 18: 50,180,178 (GRCm39) A110P unknown Het
Tnfaip8 C T 18: 50,180,179 (GRCm39) A110V unknown Het
Top3a C T 11: 60,667,792 (GRCm39) A46T probably damaging Het
Try10 T A 6: 41,332,463 (GRCm39) S40T possibly damaging Het
Vav2 C A 2: 27,276,613 (GRCm39) L70F probably damaging Het
Xylt1 C A 7: 117,242,702 (GRCm39) probably null Het
Other mutations in Rgs7bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02117:Rgs7bp APN 13 105,088,087 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- ATTTCGACCTGGGTGTCACC -3'
(R):5'- TCAAGCTGAAGGTTACCCAC -3'

Sequencing Primer
(F):5'- GGTGTCACCCAGCATCTG -3'
(R):5'- AGCCGCAACCTTGTGAG -3'
Posted On 2019-11-26