Incidental Mutation 'IGL02937:Gnb5'
ID 364341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnb5
Ensembl Gene ENSMUSG00000032192
Gene Name guanine nucleotide binding protein (G protein), beta 5
Synonyms Gbeta5, G beta 5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # IGL02937
Quality Score
Status
Chromosome 9
Chromosomal Location 75213570-75253158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75247471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 247 (Y247H)
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: Y289H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076155
Gene: ENSMUSG00000032192
AA Change: Y289H

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: Y289H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: Y247H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215891
Coding Region Coverage
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,206,049 (GRCm39) C21Y probably damaging Het
4933427D06Rik T C 6: 89,085,127 (GRCm39) noncoding transcript Het
5730480H06Rik A G 5: 48,536,783 (GRCm39) I160V probably benign Het
Arhgap29 G A 3: 121,767,698 (GRCm39) E47K probably damaging Het
Arhgef12 T A 9: 42,927,216 (GRCm39) S303C probably damaging Het
Bap1 A G 14: 30,980,284 (GRCm39) N644S probably benign Het
Cc2d1b A G 4: 108,489,091 (GRCm39) E796G probably damaging Het
Cfh C A 1: 140,033,180 (GRCm39) R788L probably benign Het
Cldn1 A G 16: 26,179,623 (GRCm39) F148S probably damaging Het
Cryzl1 A G 16: 91,487,619 (GRCm39) M292T possibly damaging Het
Cyp11b1 T C 15: 74,708,408 (GRCm39) R385G possibly damaging Het
Cyp4f37 T C 17: 32,844,163 (GRCm39) L89P probably benign Het
Dach1 A G 14: 98,153,231 (GRCm39) probably null Het
Dhtkd1 A G 2: 5,922,716 (GRCm39) I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 (GRCm39) D44E probably damaging Het
Dsg1a T A 18: 20,464,591 (GRCm39) I362N possibly damaging Het
Ecm2 T A 13: 49,671,952 (GRCm39) I151N probably damaging Het
Far1 T A 7: 113,139,855 (GRCm39) I101N probably damaging Het
Gm21985 T C 2: 112,172,207 (GRCm39) S384P probably benign Het
Golgb1 A G 16: 36,736,572 (GRCm39) K1940E probably damaging Het
Gprc5b A G 7: 118,583,017 (GRCm39) V284A probably benign Het
Idh2 T C 7: 79,748,661 (GRCm39) Y179C probably damaging Het
Kalrn G A 16: 34,040,500 (GRCm39) Q737* probably null Het
Kcnj13 T C 1: 87,314,175 (GRCm39) D349G probably damaging Het
Lgsn A T 1: 31,243,318 (GRCm39) T467S possibly damaging Het
Map9 T A 3: 82,270,819 (GRCm39) S128T possibly damaging Het
Mroh5 A G 15: 73,661,827 (GRCm39) C455R probably damaging Het
Nes A G 3: 87,887,186 (GRCm39) H1771R probably benign Het
Nkain2 T C 10: 32,205,840 (GRCm39) Y65C probably damaging Het
Or51a43 T A 7: 103,718,056 (GRCm39) M61L probably damaging Het
Or51b6b A T 7: 103,310,112 (GRCm39) V115D probably damaging Het
Or6aa1 T C 7: 86,043,798 (GRCm39) K303E possibly damaging Het
Pabpc4l A C 3: 46,400,725 (GRCm39) D306E probably benign Het
Parp12 A T 6: 39,079,515 (GRCm39) Y332N probably damaging Het
Parvb A T 15: 84,193,154 (GRCm39) K316M probably damaging Het
Pde8a T A 7: 80,945,519 (GRCm39) probably benign Het
Polq A G 16: 36,833,471 (GRCm39) T55A probably benign Het
Ppp2r5b T A 19: 6,281,016 (GRCm39) K271M probably damaging Het
Ralgapb A G 2: 158,334,936 (GRCm39) probably null Het
Rigi C T 4: 40,229,661 (GRCm39) C86Y probably benign Het
Skap2 T C 6: 51,886,351 (GRCm39) N175D probably benign Het
Slc44a3 A G 3: 121,303,970 (GRCm39) probably benign Het
Smurf2 G A 11: 106,736,873 (GRCm39) H318Y probably damaging Het
Tbc1d23 T C 16: 57,004,778 (GRCm39) T460A possibly damaging Het
Tcerg1 T C 18: 42,657,414 (GRCm39) S299P unknown Het
Tll1 A C 8: 64,658,319 (GRCm39) Y33* probably null Het
Tmem59 A T 4: 107,054,782 (GRCm39) T196S probably damaging Het
Ttll4 C A 1: 74,718,662 (GRCm39) A171D possibly damaging Het
Ttn T C 2: 76,641,513 (GRCm39) T13528A possibly damaging Het
Ttn A G 2: 76,717,621 (GRCm39) probably benign Het
Xpc C A 6: 91,477,119 (GRCm39) G327W probably damaging Het
Zbtb7a A G 10: 80,980,132 (GRCm39) S109G probably benign Het
Zfyve26 T C 12: 79,285,794 (GRCm39) M2328V probably benign Het
Other mutations in Gnb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-12-18