|Institutional Source||Beutler Lab|
|Gene Name||SLIT and NTRK-like family, member 5|
|Is this an essential gene?||Possibly essential (E-score: 0.502)|
|Stock #||R3001 (G1)|
|Chromosomal Location||111675097-111683141 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 111679582 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 213 (K213E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041499 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042767] [ENSMUST00000227891]|
|Predicted Effect||probably damaging
AA Change: K213E
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: K213E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.164|
|Coding Region Coverage||
|Validation Efficiency||98% (47/48)|
|MGI Phenotype||Strain: 4459459
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele have abnormal medium spiny neuron morphology and exhibit behavioral abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slitrk5||
(F):5'- TTGGAGAACTTAGAATACCTGCAGG -3'
(R):5'- TGGACAAAGTTCCTGCTTGG -3'
(F):5'- CCTGCAGGTCGATTACAATTAC -3'
(R):5'- GGACAAAGTTCCTGCTTGGATACC -3'