Incidental Mutation 'R3933:Rgs7bp'
ID 308569
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 040920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3933 (G1)
Quality Score 225
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 96% (43/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,304,856 (GRCm39) F3350L probably damaging Het
Acp6 T C 3: 97,073,499 (GRCm39) V146A probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arhgef33 A G 17: 80,680,749 (GRCm39) I630V probably benign Het
Astn2 G A 4: 66,322,192 (GRCm39) R136C unknown Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
C1rl T A 6: 124,485,781 (GRCm39) L384* probably null Het
Ccdc6 TCCGCCGCCGCC TCCGCCGCC 10: 70,025,000 (GRCm39) probably benign Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ercc5 T A 1: 44,207,016 (GRCm39) M643K probably benign Het
Fut8 A C 12: 77,522,033 (GRCm39) K557N probably damaging Het
Hsdl2 T C 4: 59,597,274 (GRCm39) Y88H probably damaging Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Itga8 A G 2: 12,194,330 (GRCm39) I690T probably benign Het
Lepr T C 4: 101,622,498 (GRCm39) probably benign Het
Matn2 T C 15: 34,345,566 (GRCm39) probably null Het
Mei1 A G 15: 81,967,353 (GRCm39) K310E possibly 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
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Ogdh T C 11: 6,292,601 (GRCm39) V438A possibly damaging Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or4f17-ps1 T C 2: 111,358,300 (GRCm39) Y232H probably damaging Het
Or5aq6 T A 2: 86,923,106 (GRCm39) I212F probably benign Het
Parp2 G A 14: 51,056,844 (GRCm39) V323M probably benign Het
Pip5k1a A G 3: 94,979,314 (GRCm39) S161P probably benign Het
Pold3 T C 7: 99,770,608 (GRCm39) E8G probably damaging Het
Pomt1 G A 2: 32,135,631 (GRCm39) V332I probably benign Het
Ppp2ca T A 11: 52,010,089 (GRCm39) N232K probably damaging Het
Prune2 A T 19: 17,101,318 (GRCm39) D2274V probably damaging Het
Pwwp2b G A 7: 138,835,950 (GRCm39) V464I possibly damaging Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Scai A T 2: 38,965,064 (GRCm39) D593E probably benign Het
Slc24a2 T C 4: 87,094,422 (GRCm39) T366A probably benign Het
Sp100 A G 1: 85,608,830 (GRCm39) I320V probably benign Het
Syngr2 C A 11: 117,704,243 (GRCm39) P206Q probably damaging Het
Tatdn3 A T 1: 190,778,521 (GRCm39) probably null Het
Thsd7a C T 6: 12,555,225 (GRCm39) G220S probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r11 C T 5: 109,201,260 (GRCm39) A415T probably damaging Het
Vmn2r88 A G 14: 51,651,435 (GRCm39) M258V probably benign Het
Wiz G A 17: 32,576,872 (GRCm39) R561C probably damaging Het
Yju2b G A 8: 84,986,981 (GRCm39) A172V probably benign Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R 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
R3932: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'- AGCTTATATGATCTCACCCATCTGAG -3'
(R):5'- CCCAGAAGTCAGTGAAATCTCTG -3'

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