|Institutional Source||Beutler Lab|
|Gene Name||guanine nucleotide binding protein, alpha stimulating, olfactory type|
|Synonyms||Gna10, 9630020G10Rik, Galphaolf, 2610011C15Rik, Golf, G alpha 10|
|Is this an essential gene?||Possibly essential (E-score: 0.689)|
|Stock #||R4247 (G1)|
|Chromosomal Location||67088336-67226792 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 67088583 bp|
|Amino Acid Change||Proline to Arginine at position 19 (P19R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025402 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025402]|
AA Change: P19R
AA Change: P19R
|Meta Mutation Damage Score||0.114|
|Coding Region Coverage||
|Validation Efficiency||98% (41/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gnal||
(F):5'- AGGATGCACAATGGCCCTTC -3'
(R):5'- ACATTCTCCAAGGCAGGGTC -3'
(F):5'- CCTTCGGGGCAGTGAGG -3'
(R):5'- GTGCAGACCTACCCAGCAG -3'