Incidental Mutation 'R0961:Gnb5'
ID 81888
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 039090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R0961 (G1)
Quality Score 145
Status Validated
Chromosome 9
Chromosomal Location 75213570-75253158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75242933 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P62881
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

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 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: 151,314,686 (GRCm39) S331A probably benign Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4933412E24Rik T C 15: 59,887,160 (GRCm39) I427V probably benign Het
Abca15 A T 7: 119,960,208 (GRCm39) K664* probably null Het
Adcy8 A G 15: 64,626,711 (GRCm39) V709A possibly damaging Het
Aox1 T A 1: 58,349,230 (GRCm39) D665E probably benign Het
Arhgap22 C T 14: 33,089,070 (GRCm39) T352M probably damaging Het
Atg9a G A 1: 75,163,390 (GRCm39) L237F probably damaging Het
Ccdc178 T G 18: 22,152,098 (GRCm39) K672T possibly damaging Het
Ccdc63 T G 5: 122,249,009 (GRCm39) K440T possibly damaging Het
Cd55b A T 1: 130,341,813 (GRCm39) W275R probably damaging Het
Col4a3 T C 1: 82,686,297 (GRCm39) probably benign Het
Dmpk C G 7: 18,821,195 (GRCm39) D204E probably damaging Het
Egfr T C 11: 16,812,964 (GRCm39) V148A probably damaging Het
F11 A T 8: 45,694,531 (GRCm39) V610E probably damaging Het
Fam83b A T 9: 76,398,577 (GRCm39) I842N probably damaging Het
Fbxw9 T C 8: 85,788,658 (GRCm39) Y165H probably benign Het
Fzd6 C T 15: 38,889,073 (GRCm39) L64F probably damaging Het
Galntl6 A T 8: 59,364,374 (GRCm39) H45Q probably benign Het
Gbp7 C A 3: 142,247,318 (GRCm39) S276* probably null Het
Gon4l T C 3: 88,805,403 (GRCm39) probably benign Het
Gpat4 C T 8: 23,670,927 (GRCm39) C95Y probably damaging Het
Gstm7 T A 3: 107,834,302 (GRCm39) probably benign Het
Hyal4 A G 6: 24,755,745 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kank4 G A 4: 98,644,756 (GRCm39) R999W probably benign Het
Kdm2a A G 19: 4,379,219 (GRCm39) V92A probably benign Het
Klhl9 T C 4: 88,639,974 (GRCm39) D89G probably benign Het
Klre1 A G 6: 129,559,378 (GRCm39) T103A probably benign Het
Lamc1 CGCTGGC CGC 1: 153,097,392 (GRCm39) probably null Het
Lamc1 G T 1: 153,097,446 (GRCm39) L1533I probably benign Het
Lca5l T C 16: 95,962,560 (GRCm39) H455R possibly damaging Het
Lmo7 C A 14: 102,031,705 (GRCm39) T33K probably benign Het
Lrig1 A G 6: 94,640,895 (GRCm39) probably benign Het
Mep1b T A 18: 21,221,786 (GRCm39) Y245* probably null Het
Mettl24 A G 10: 40,686,615 (GRCm39) T331A possibly damaging Het
Mycbp2 A C 14: 103,422,271 (GRCm39) D2467E probably damaging Het
Myo15b T C 11: 115,773,280 (GRCm39) S1871P probably benign Het
Ncbp1 T C 4: 46,165,193 (GRCm39) L502P possibly damaging Het
Npr1 T C 3: 90,366,028 (GRCm39) N588D possibly damaging Het
Or2g7 T A 17: 38,378,814 (GRCm39) Y251N probably damaging Het
Or8k16 A T 2: 85,519,790 (GRCm39) T6S probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Phactr4 A G 4: 132,105,731 (GRCm39) S112P probably benign Het
R3hdm1 C T 1: 128,121,333 (GRCm39) T279I probably benign Het
Rere A G 4: 150,699,829 (GRCm39) probably benign Het
Ryr1 T A 7: 28,709,122 (GRCm39) E4779V unknown Het
Sh2d4b A G 14: 40,596,139 (GRCm39) V81A probably benign Het
Slc10a5 T C 3: 10,399,484 (GRCm39) H392R probably benign Het
Slc26a4 T C 12: 31,585,618 (GRCm39) T477A probably benign Het
Spata31d1b T C 13: 59,865,618 (GRCm39) V922A possibly damaging Het
Sptan1 T A 2: 29,870,075 (GRCm39) probably null Het
Stard9 A G 2: 120,523,920 (GRCm39) D705G probably benign Het
Tdpoz3 T A 3: 93,734,188 (GRCm39) S288T probably benign Het
Tsga10 A G 1: 37,800,509 (GRCm39) probably null Het
Usp18 G A 6: 121,238,452 (GRCm39) A200T probably benign Het
Zfp759 A T 13: 67,287,927 (GRCm39) T493S 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
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
R8925:Gnb5 UTSW 9 75,252,236 (GRCm39) missense possibly damaging 0.57
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'- TGATCTGCAAGGCAGGCAGAAATC -3'
(R):5'- TACCCCAGACACGAAGGTGTTTCC -3'

Sequencing Primer
(F):5'- agccgcttctgtcttctg -3'
(R):5'- ACACGAAGGTGTTTCCTGTTTC -3'
Posted On 2013-11-08