Incidental Mutation 'R3932:Rgs7bp'
ID 308523
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 040919-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3932 (G1)
Quality Score 220
Status Validated
Chromosome 13
Chromosomal Location 105082412-105191438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105189506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 98 (M98V)
Ref Sequence ENSEMBL: ENSMUSP00000066614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063551]
AlphaFold Q8BQP9
Predicted Effect probably benign
Transcript: ENSMUST00000063551
AA Change: M98V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000066614
Gene: ENSMUSG00000021719
AA Change: M98V

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
coiled coil region 194 221 N/A INTRINSIC
Meta Mutation Damage Score 0.0585 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arl1 C T 10: 88,569,398 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp10a T C 7: 58,476,852 (GRCm39) M1189T possibly damaging Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
Cdc34b G A 11: 94,633,441 (GRCm39) V214M probably benign Het
Cfap54 T C 10: 92,665,619 (GRCm39) T2985A probably benign Het
Clcc1 T C 3: 108,580,682 (GRCm39) M332T probably damaging Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ctdnep1 A G 11: 69,880,400 (GRCm39) probably benign Het
Edar C T 10: 58,446,164 (GRCm39) C221Y probably damaging Het
Fam135b T A 15: 71,322,280 (GRCm39) Q1295L probably benign Het
Fam184a C T 10: 53,575,397 (GRCm39) A71T probably damaging Het
Fbxw10 A G 11: 62,759,983 (GRCm39) probably benign Het
Frmd4a T C 2: 4,542,071 (GRCm39) W247R probably damaging Het
Gcn1 A G 5: 115,725,893 (GRCm39) H553R probably benign Het
Grin3a C T 4: 49,672,472 (GRCm39) probably null Het
H2-Q6 C T 17: 35,644,542 (GRCm39) probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Med10 A G 13: 69,958,101 (GRCm39) N18D probably damaging Het
Mgat4b T A 11: 50,124,165 (GRCm39) H368Q possibly damaging Het
Morn5 C A 2: 35,943,035 (GRCm39) T45N probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msl3 C T X: 167,454,813 (GRCm39) A87T probably damaging Het
Myrf T C 19: 10,195,515 (GRCm39) T432A probably damaging Het
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Nav3 T A 10: 109,529,896 (GRCm39) E2148D probably damaging Het
Nfe2l3 A G 6: 51,433,595 (GRCm39) T236A possibly damaging Het
Odc1 T A 12: 17,598,801 (GRCm39) F227Y probably benign Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or5b21 T C 19: 12,839,994 (GRCm39) M285T possibly damaging Het
Pdcd1 T C 1: 93,968,989 (GRCm39) I110V probably benign Het
Pde5a G A 3: 122,554,545 (GRCm39) E212K probably damaging Het
Plin4 A G 17: 56,413,704 (GRCm39) I307T probably benign Het
Rag1 T C 2: 101,473,384 (GRCm39) Y586C probably damaging Het
Rgs9 A G 11: 109,166,639 (GRCm39) probably benign Het
Rin3 A G 12: 102,356,342 (GRCm39) D961G probably damaging Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Slc13a2 T A 11: 78,289,226 (GRCm39) Y495F probably damaging Het
Tfec T A 6: 16,845,458 (GRCm39) D67V probably damaging Het
Tmem94 T C 11: 115,680,080 (GRCm39) M30T probably benign Het
Tsbp1 A G 17: 34,662,417 (GRCm39) T86A possibly damaging Het
Tubgcp6 A G 15: 88,988,617 (GRCm39) probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r85 T C 10: 130,254,336 (GRCm39) M783V probably damaging Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R probably benign Het
Zfp94 T G 7: 24,003,112 (GRCm39) D110A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCTTATATGATCTCACCCATCTGAG -3'
(R):5'- CCCAGAAGTCAGTGAAATCTCTG -3'

Sequencing Primer
(F):5'- TCTCACCCATCTGAGAATGATCGG -3'
(R):5'- CAGCTTGTCCAAGAGTTC -3'
Posted On 2015-04-17