Incidental Mutation 'R0747:Gnb5'
Institutional Source Beutler Lab
Gene Symbol Gnb5
Ensembl Gene ENSMUSG00000032192
Gene Nameguanine nucleotide binding protein (G protein), beta 5
SynonymsG beta 5, Gbeta5
MMRRC Submission 038928-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.250) question?
Stock #R0747 (G1)
Quality Score225
Status Validated
Chromosomal Location75306288-75345876 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 75311470 bp
Amino Acid Change Valine to Isoleucine at position 26 (V26I)
Ref Sequence ENSEMBL: ENSMUSP00000149938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076889] [ENSMUST00000213990] [ENSMUST00000215002] [ENSMUST00000215875]
Predicted Effect probably benign
Transcript: ENSMUST00000076889
AA Change: V26I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076155
Gene: ENSMUSG00000032192
AA Change: V26I

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 probably benign
Transcript: ENSMUST00000213990
AA Change: V26I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215002
Predicted Effect probably benign
Transcript: ENSMUST00000215875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216737
Meta Mutation Damage Score 0.092 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T A 14: 12,287,287 M16K probably benign Het
Adam19 A T 11: 46,118,495 probably null Het
Anks4b C T 7: 120,182,163 A139V probably damaging Het
Arf1 G A 11: 59,212,635 R149C probably benign Het
Axl A T 7: 25,764,059 C598S possibly damaging Het
B3gnt2 T C 11: 22,836,316 I291V possibly damaging Het
Ccdc158 T A 5: 92,633,297 H883L probably benign Het
Col6a3 A G 1: 90,802,653 S1644P probably damaging Het
Cspg4 T C 9: 56,890,280 S1343P probably damaging Het
D430041D05Rik G T 2: 104,230,306 H1414Q probably damaging Het
Dnah5 C G 15: 28,444,186 I4043M probably damaging Het
Dnah5 T A 15: 28,444,187 C4044S possibly damaging Het
Dpep3 C T 8: 105,977,386 A267T probably benign Het
Dync1h1 A C 12: 110,612,411 H106P probably benign Het
Dync1h1 A C 12: 110,629,284 E1466A probably damaging Het
Fggy T C 4: 95,812,100 probably benign Het
Frmd6 A G 12: 70,864,056 T5A probably benign Het
Hephl1 A T 9: 15,054,001 probably benign Het
Hmmr C T 11: 40,721,745 probably benign Het
Hpn A T 7: 31,099,546 F356Y probably damaging Het
Iqgap3 T C 3: 88,107,503 probably benign Het
Ism2 A G 12: 87,285,398 probably benign Het
Kansl1 T A 11: 104,342,976 M754L probably benign Het
Kcnc4 A T 3: 107,448,154 I326N probably damaging Het
Lcn6 G A 2: 25,677,172 V62M probably damaging Het
Lrp1b A T 2: 40,870,341 C2858S probably damaging Het
Lyn G A 4: 3,745,638 probably benign Het
Mov10 T A 3: 104,802,496 H358L probably benign Het
Notch1 A G 2: 26,472,140 V60A unknown Het
Olfr720 C T 14: 14,175,429 A218T probably benign Het
Pgap2 C A 7: 102,237,136 Y176* probably null Het
Pglyrp1 A G 7: 18,890,275 Q161R possibly damaging Het
Plod3 A G 5: 136,988,195 N66S probably benign Het
Psmc3 A G 2: 91,054,300 E18G probably benign Het
Psme3 T G 11: 101,317,046 M9R probably benign Het
Rapgef4 A G 2: 72,223,073 N428S possibly damaging Het
Rbp3 A G 14: 33,956,278 I728V possibly damaging Het
Sall4 A T 2: 168,754,966 H651Q probably damaging Het
Skint3 T A 4: 112,253,905 Y76N probably damaging Het
Slc13a4 T C 6: 35,278,328 T342A probably damaging Het
Slc25a1 G T 16: 17,926,220 T239K probably damaging Het
Slc36a2 T A 11: 55,169,859 I242F probably benign Het
Tekt2 G A 4: 126,323,760 Q171* probably null Het
Tet2 T G 3: 133,467,470 H1677P possibly damaging Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Trcg1 C T 9: 57,241,921 P259S probably benign Het
Ttn A C 2: 76,710,598 S25688A probably damaging Het
Vmn2r117 T A 17: 23,475,503 R457* probably null Het
Zbbx C T 3: 75,155,427 V8I probably damaging Het
Other mutations in Gnb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02937:Gnb5 APN 9 75340189 missense probably damaging 1.00
R0080:Gnb5 UTSW 9 75314354 missense possibly damaging 0.92
R0961:Gnb5 UTSW 9 75335651 missense probably damaging 0.98
R1970:Gnb5 UTSW 9 75344650 splice site probably null
R2196:Gnb5 UTSW 9 75327229 missense probably damaging 0.99
R2850:Gnb5 UTSW 9 75327229 missense probably damaging 0.99
R4577:Gnb5 UTSW 9 75343541 missense possibly damaging 0.51
R5633:Gnb5 UTSW 9 75344514 missense probably damaging 1.00
R5682:Gnb5 UTSW 9 75327241 missense probably damaging 0.96
R7310:Gnb5 UTSW 9 75314288 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2013-09-30