|Institutional Source||Beutler Lab|
|Gene Name||roundabout guidance receptor 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6408 (G1)|
|Chromosomal Location||72308306-73046095 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 72972046 bp|
|Amino Acid Change||Tyrosine to Histidine at position 500 (Y500H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023600 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023600]|
|Predicted Effect||probably benign
AA Change: Y500H
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: Y500H
AA Change: Y509H
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.186|
|Coding Region Coverage||
|Validation Efficiency||94% (45/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a reporter allele show altered axon guidance. Mice homozygous for a null allele die at birth showing aberrant axon pathfinding and cortical interneuron migration. Homozygotes for another null allele show neonatal death, aphagia, delayed lung maturation and bronchial hyperplasia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Robo1||
(F):5'- GGGGCATTTCTGGTTCAAAG -3'
(R):5'- TGACATCTGTAACTTCGGGC -3'
(F):5'- TTTTCCAGCCCAGAAAGG -3'
(R):5'- GGTTGAACTGGAACCCCAAATTC -3'