|Institutional Source||Beutler Lab|
|Gene Name||GRB2-related adaptor protein|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1479 (G1)|
|Chromosomal Location||61653265-61672784 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 61660298 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 52 (Y52F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004959 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004959]|
|Predicted Effect||probably benign
AA Change: Y52F
PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: Y52F
|Meta Mutation Damage Score||0.118|
|Coding Region Coverage||
|Validation Efficiency||96% (81/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display a greater proliferative T cell response to TCR stimulation. In all other respects, they are normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grap||
(F):5'- TGGCTACTCTGTGTTCCTGCAAAC -3'
(R):5'- TCTGTAAAGAGCCTGACCTACGTCC -3'
(F):5'- GTAGATGTCCACCTGCCAGTATG -3'
(R):5'- GATATCTGGGCCAAACTAGACTTC -3'