Incidental Mutation 'R8925:Gnb5'
ID 680191
Institutional Source Beutler Lab
Gene Symbol Gnb5
Ensembl Gene ENSMUSG00000032192
Gene Name guanine nucleotide binding protein (G protein), beta 5
Synonyms Gbeta5, G beta 5
MMRRC Submission 068708-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R8925 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 75213570-75253158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75252236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 393 (V393A)
Ref Sequence ENSEMBL: ENSMUSP00000076155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034709] [ENSMUST00000076889] [ENSMUST00000213990] [ENSMUST00000215875]
AlphaFold P62881
PDB Structure The multifunctional nature of Gbeta5/RGS9 revealed from its crystal structure [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000034709
SMART Domains Protein: ENSMUSP00000034709
Gene: ENSMUSG00000032191

DomainStartEndE-ValueType
BCL 42 151 1.35e-38 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000076889
AA Change: V393A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076155
Gene: ENSMUSG00000032192
AA Change: V393A

DomainStartEndE-ValueType
WD40 94 133 3.52e-9 SMART
WD40 136 175 9.94e-1 SMART
WD40 184 223 9.9e-4 SMART
WD40 226 267 2.42e-7 SMART
WD40 270 309 1.99e-8 SMART
WD40 312 353 5.97e-1 SMART
WD40 356 395 6.04e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000213990
AA Change: V393A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215875
AA Change: V351A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 95% (54/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are runty and exhibit high preweaning mortality. Survivors are apparently normal, but show prolonged photoresponses and defective adaptation in rod cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,805 (GRCm39) R190* probably null Het
Aldh7a1 A T 18: 56,660,060 (GRCm39) S529T probably benign Het
Carmil2 T G 8: 106,415,130 (GRCm39) Y214* probably null Het
Ccdc136 A G 6: 29,406,109 (GRCm39) I152V probably damaging Het
Ccdc88c T C 12: 100,932,676 (GRCm39) D285G possibly damaging Het
Clec4a3 T A 6: 122,946,328 (GRCm39) F191I probably damaging Het
Dlg5 A T 14: 24,206,547 (GRCm39) S1222T Het
Dnaaf9 T A 2: 130,579,300 (GRCm39) R777* probably null Het
Dnah14 T G 1: 181,508,321 (GRCm39) L1833W probably damaging Het
Dsg2 T C 18: 20,725,535 (GRCm39) W549R probably damaging Het
Ezh2 A T 6: 47,510,713 (GRCm39) V632E possibly damaging Het
Fam83a G A 15: 57,873,313 (GRCm39) V381M probably benign Het
Flacc1 A T 1: 58,706,882 (GRCm39) probably null Het
Fmo2 T C 1: 162,704,398 (GRCm39) T503A probably benign Het
Foxo1 T C 3: 52,252,703 (GRCm39) F289L probably damaging Het
Gckr A G 5: 31,456,903 (GRCm39) E96G probably damaging Het
Gm18596 G A 10: 77,578,162 (GRCm39) A104V unknown Het
Gm21680 A T 5: 26,176,347 (GRCm39) N83K probably damaging Het
Grin2b T G 6: 135,749,339 (GRCm39) Q621P probably damaging Het
Gtsf2 T C 15: 103,352,783 (GRCm39) I79V probably benign Het
Itga1 T C 13: 115,105,055 (GRCm39) I1040V probably benign Het
Kif2b C T 11: 91,468,023 (GRCm39) E87K probably benign Het
Klk1b8 G A 7: 43,604,206 (GRCm39) G225S probably damaging Het
L3mbtl3 A T 10: 26,220,084 (GRCm39) C94S unknown Het
Man2c1 T G 9: 57,048,456 (GRCm39) Y872* probably null Het
Mical3 T A 6: 120,984,325 (GRCm39) M832L probably benign Het
Mrc2 A G 11: 105,216,334 (GRCm39) D41G probably benign Het
Nedd1 T A 10: 92,558,258 (GRCm39) probably benign Het
Nefh TTTGGCCTCAGCTGGTGACTTGGGCTCAGCTGGAGACTTGGCCTCACCTGGTGACTTG TTTGGCCTCACCTGGTGACTTG 11: 4,890,530 (GRCm39) probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Notch3 C T 17: 32,372,792 (GRCm39) R593Q probably benign Het
Nxpe3 T G 16: 55,669,997 (GRCm39) E369D possibly damaging Het
Obscn T A 11: 58,977,695 (GRCm39) T1802S possibly damaging Het
Or1e33 A T 11: 73,738,406 (GRCm39) F182I probably benign Het
Or2a7 T C 6: 43,151,669 (GRCm39) F250L probably benign Het
Or4k51 A T 2: 111,585,107 (GRCm39) H171L probably benign Het
Or9s14 A G 1: 92,536,438 (GRCm39) N293S probably damaging Het
Oscar A C 7: 3,614,747 (GRCm39) V75G probably benign Het
Pcdhb17 G A 18: 37,620,372 (GRCm39) A721T probably benign Het
Pcnx2 T C 8: 126,614,659 (GRCm39) Y264C probably benign Het
Pear1 G T 3: 87,661,890 (GRCm39) A495D probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plekhf1 C A 7: 37,920,998 (GRCm39) R190L probably damaging Het
Plppr5 T C 3: 117,369,532 (GRCm39) V63A probably benign Het
Pyroxd1 T A 6: 142,300,437 (GRCm39) F189Y probably damaging Het
Rab13 C T 3: 90,128,120 (GRCm39) probably benign Het
Rptor C T 11: 119,782,036 (GRCm39) T1121I probably benign Het
Scgb2b7 T C 7: 31,404,602 (GRCm39) S33G probably benign Het
Slc25a36 A G 9: 96,982,126 (GRCm39) probably null Het
Smc1b A T 15: 84,991,273 (GRCm39) probably null Het
Smtn T A 11: 3,479,477 (GRCm39) H530L possibly damaging Het
Srrt C T 5: 137,297,070 (GRCm39) C411Y probably benign Het
Stag1 C A 9: 100,587,298 (GRCm39) P7Q possibly damaging Het
Tarm1 G A 7: 3,537,719 (GRCm39) T248I possibly damaging Het
Tektl1 T C 10: 78,588,258 (GRCm39) Y184C probably damaging Het
Trim6 C T 7: 103,881,655 (GRCm39) A328V probably benign Het
Vmn1r189 T C 13: 22,286,811 (GRCm39) I9V probably benign Het
Vmn2r93 A G 17: 18,546,500 (GRCm39) T791A probably damaging Het
Vsig10l A G 7: 43,116,020 (GRCm39) T454A probably benign Het
Other mutations in Gnb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02937:Gnb5 APN 9 75,247,471 (GRCm39) missense probably damaging 1.00
R0080:Gnb5 UTSW 9 75,221,636 (GRCm39) missense possibly damaging 0.92
R0747:Gnb5 UTSW 9 75,218,752 (GRCm39) missense probably benign
R0961:Gnb5 UTSW 9 75,242,933 (GRCm39) missense probably damaging 0.98
R1970:Gnb5 UTSW 9 75,251,932 (GRCm39) splice site probably null
R2196:Gnb5 UTSW 9 75,234,511 (GRCm39) missense probably damaging 0.99
R2850:Gnb5 UTSW 9 75,234,511 (GRCm39) missense probably damaging 0.99
R4577:Gnb5 UTSW 9 75,250,823 (GRCm39) missense possibly damaging 0.51
R5633:Gnb5 UTSW 9 75,251,796 (GRCm39) missense probably damaging 1.00
R5682:Gnb5 UTSW 9 75,234,523 (GRCm39) missense probably damaging 0.96
R7310:Gnb5 UTSW 9 75,221,570 (GRCm39) missense probably benign
R7651:Gnb5 UTSW 9 75,250,853 (GRCm39) missense probably damaging 1.00
R8055:Gnb5 UTSW 9 75,250,826 (GRCm39) missense probably benign 0.35
R8927:Gnb5 UTSW 9 75,252,236 (GRCm39) missense possibly damaging 0.57
R8996:Gnb5 UTSW 9 75,251,805 (GRCm39) missense probably benign 0.30
R9408:Gnb5 UTSW 9 75,218,696 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCGTGCACACAGGTGTTCAAC -3'
(R):5'- ACAGAAGGGCTTGAAGGTCC -3'

Sequencing Primer
(F):5'- CACACAGGTGTTCAACATGGTG -3'
(R):5'- AGTTGAAGTGCCACGGCCTATC -3'
Posted On 2021-08-31