Incidental Mutation 'R0961: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 039090-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.212) question?
Stock #R0961 (G1)
Quality Score145
Status Validated
Chromosomal Location75306288-75345876 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 75335651 bp
Amino Acid Change Isoleucine to Phenylalanine at position 168 (I168F)
Ref Sequence ENSEMBL: ENSMUSP00000150492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076889] [ENSMUST00000213990] [ENSMUST00000215002] [ENSMUST00000215875]
Predicted Effect probably damaging
Transcript: ENSMUST00000076889
AA Change: I210F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076155
Gene: ENSMUSG00000032192
AA Change: I210F

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 noncoding transcript
Transcript: ENSMUST00000213336
Predicted Effect probably damaging
Transcript: ENSMUST00000213990
AA Change: I210F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214744
Predicted Effect probably benign
Transcript: ENSMUST00000215002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215346
Predicted Effect probably damaging
Transcript: ENSMUST00000215875
AA Change: I168F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216290
Meta Mutation Damage Score 0.6799 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.6%
  • 20x: 89.7%
Validation Efficiency 100% (60/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A C 2: 151,472,766 S331A probably benign Het
4930433I11Rik A T 7: 40,993,056 T141S probably benign Het
4933412E24Rik T C 15: 60,015,311 I427V probably benign Het
Abca15 A T 7: 120,360,985 K664* probably null Het
Adcy8 A G 15: 64,754,862 V709A possibly damaging Het
Aox2 T A 1: 58,310,071 D665E probably benign Het
Arhgap22 C T 14: 33,367,113 T352M probably damaging Het
Atg9a G A 1: 75,186,746 L237F probably damaging Het
Ccdc178 T G 18: 22,019,041 K672T possibly damaging Het
Ccdc63 T G 5: 122,110,946 K440T possibly damaging Het
Cd55b A T 1: 130,414,076 W275R probably damaging Het
Col4a3 T C 1: 82,708,576 probably benign Het
Dmpk C G 7: 19,087,270 D204E probably damaging Het
Egfr T C 11: 16,862,964 V148A probably damaging Het
F11 A T 8: 45,241,494 V610E probably damaging Het
Fam83b A T 9: 76,491,295 I842N probably damaging Het
Fbxw9 T C 8: 85,062,029 Y165H probably benign Het
Fzd6 C T 15: 39,025,678 L64F probably damaging Het
Galntl6 A T 8: 58,911,340 H45Q probably benign Het
Gbp7 C A 3: 142,541,557 S276* probably null Het
Gon4l T C 3: 88,898,096 probably benign Het
Gpat4 C T 8: 23,180,911 C95Y probably damaging Het
Gstm7 T A 3: 107,926,986 probably benign Het
Hyal4 A G 6: 24,755,746 probably benign Het
Iqca C A 1: 90,142,731 G133V probably null Het
Kank4 G A 4: 98,756,519 R999W probably benign Het
Kdm2a A G 19: 4,329,191 V92A probably benign Het
Klhl9 T C 4: 88,721,737 D89G probably benign Het
Klre1 A G 6: 129,582,415 T103A probably benign Het
Lamc1 CGCTGGC CGC 1: 153,221,646 probably null Het
Lamc1 G T 1: 153,221,700 L1533I probably benign Het
Lca5l T C 16: 96,161,360 H455R possibly damaging Het
Lmo7 C A 14: 101,794,269 T33K probably benign Het
Lrig1 A G 6: 94,663,914 probably benign Het
Mep1b T A 18: 21,088,729 Y245* probably null Het
Mettl24 A G 10: 40,810,619 T331A possibly damaging Het
Mycbp2 A C 14: 103,184,835 D2467E probably damaging Het
Myo15b T C 11: 115,882,454 S1871P probably benign Het
Ncbp1 T C 4: 46,165,193 L502P possibly damaging Het
Npr1 T C 3: 90,458,721 N588D possibly damaging Het
Olfr1008 A T 2: 85,689,446 T6S probably benign Het
Olfr130 T A 17: 38,067,923 Y251N probably damaging Het
Oxtr C T 6: 112,477,177 R42Q probably benign Het
Phactr4 A G 4: 132,378,420 S112P probably benign Het
R3hdm1 C T 1: 128,193,596 T279I probably benign Het
Rere A G 4: 150,615,372 probably benign Het
Ryr1 T A 7: 29,009,697 E4779V unknown Het
Sh2d4b A G 14: 40,874,182 V81A probably benign Het
Slc10a5 T C 3: 10,334,424 H392R probably benign Het
Slc26a4 T C 12: 31,535,619 T477A probably benign Het
Spata31d1b T C 13: 59,717,804 V922A possibly damaging Het
Sptan1 T A 2: 29,980,063 probably null Het
Stard9 A G 2: 120,693,439 D705G probably benign Het
Tdpoz3 T A 3: 93,826,881 S288T probably benign Het
Tsga10 A G 1: 37,761,428 probably null Het
Usp18 G A 6: 121,261,493 A200T probably benign Het
Zfp759 A T 13: 67,139,863 T493S probably benign 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
R0747:Gnb5 UTSW 9 75311470 missense probably benign
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
R7651:Gnb5 UTSW 9 75343571 missense probably damaging 1.00
R8055:Gnb5 UTSW 9 75343544 missense probably benign 0.35
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- agccgcttctgtcttctg -3'
Posted On2013-11-08