|Institutional Source||Beutler Lab|
|Gene Name||guanine nucleotide binding protein, alpha 11|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5180 (G1)|
|Chromosomal Location||81528724-81545190 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 81544873 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 19 (K19E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043190 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043604]|
|Predicted Effect||probably benign
AA Change: K19E
PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: K19E
|Meta Mutation Damage Score||0.0662|
|Coding Region Coverage||
|Validation Efficiency||97% (60/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice deficient for this gene do not exhibit any detectable abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gna11||
(F):5'- CCCCGAATGAATCTAAGGCCTG -3'
(R):5'- CGATCCTAAAGTCCTGTCCC -3'
(F):5'- ACTAGTTGCCCCGAGGACATC -3'
(R):5'- TAAAGTCCTGTCCCTGCGG -3'