|Institutional Source||Beutler Lab|
|Gene Name||guanine nucleotide binding protein (G protein), alpha inhibiting 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4791001 (G1)|
|Chromosomal Location||108107280-108146146 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 108118305 bp|
|Amino Acid Change||Serine to Proline at position 153 (S153P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000001 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000001]|
|Predicted Effect||probably benign
AA Change: S153P
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: S153P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal basal cardiac function and beta-adrenergic sensitivity. Mice homozygous for a different knock-out allele exhibit enhanced T cell migration toward CXCR3 agonists. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gnai3||
(F):5'- CAATGAACATTCTCTAGAGTCACC -3'
(R):5'- AGTGGGAATTCATCTGCCCC -3'
(F):5'- GCAGGGTTTCTCTGTATAGTCC -3'
(R):5'- GGAATTCATCTGCCCCTGTCTTAAC -3'