|Institutional Source||Beutler Lab|
|Gene Name||growth factor receptor bound protein 14|
|Is this an essential gene?||Probably non essential (E-score: 0.196)|
|Stock #||R6062 (G1)|
|Chromosomal Location||64912476-65024987 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 65022620 bp|
|Amino Acid Change||Glutamine to Lysine at position 9 (Q9K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028252 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028252]|
|Predicted Effect||possibly damaging
AA Change: Q9K
PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: Q9K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0746|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
|MGI Phenotype||Strain: 3029164
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grb14||
(F):5'- TGCCTACCTGTCTATGGCAC -3'
(R):5'- TTCAGGAGAGTGACACCAGC -3'
(F):5'- TGTCTATGGCACCGCGGAG -3'
(R):5'- GCTGGCGCTCCATCCTC -3'