|Institutional Source||Beutler Lab|
|Gene Name||KH domain containing, RNA binding, signal transduction associated 2|
|Is this an essential gene?||Probably non essential (E-score: 0.249)|
|Stock #||R3123 (G1)|
|Chromosomal Location||32172714-32658568 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 32519777 bp|
|Amino Acid Change||Arginine to Leucine at position 408 (R408L)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027226]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: R408L
PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: R408L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0248|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
FUNCTION: The protein encoded by this gene is similar to the src associated in mitosis, 68 kDa protein, which is an RNA-binding protein and a substrate for Src-family tyrosine kinases during mitosis. This protein has a KH RNA-binding motif and proline-rich motifs which may be SH2 and SH3 domain binding sites. A similar rat protein is an RNA-binding protein which is tyrosine phosphorylated by Src during mitosis. These studies also suggest that the rat protein may function as an adaptor protein for Src by binding the SH2 and SH3 domains of various other proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals display smaller brain size and reduced weight in the cerebellum. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Khdrbs2||
(F):5'- GCAGGATTTCCCAGACCATC -3'
(R):5'- AGTTCTGTGAAAAGATGGACTCG -3'
(F):5'- AGACCATCCTCTTCCTGAAGGTG -3'
(R):5'- GATGGACTCGAGGCATCAATCTC -3'