|Institutional Source||Beutler Lab|
|Gene Name||non-catalytic region of tyrosine kinase adaptor protein 2|
|Synonyms||4833426I10Rik, Grb4, NCKbeta|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8278 (G1)|
|Chromosomal Location||43444579-43570515 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 43554580 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 316 (S316P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000083611 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000086421] [ENSMUST00000202540]|
AA Change: S316P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S316P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene display no abnormal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nck2||
(F):5'- AACTACGTGGTTGTTCTCAGTG -3'
(R):5'- TTGTTATGCCCAGGATTAAGCC -3'
(F):5'- TCTCAGTGATGGGCCTGCTC -3'
(R):5'- GCCTAACTTACATGACTTGGTGAGAC -3'