|Institutional Source||Beutler Lab|
|Gene Name||RAS related protein 1b|
|Is this an essential gene?||Possibly non essential (E-score: 0.472)|
|Stock #||R5131 (G1)|
|Chromosomal Location||117813871-117846035 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 117824611 bp|
|Amino Acid Change||Valine to Isoleucine at position 14 (V14I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066238 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064667]|
|Predicted Effect||probably damaging
AA Change: V14I
PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: V14I
|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 RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display partial embryonic and perinatal lethality, abdominal, cranial, and hepatic bleeding in mice that die in utero, reduced platelet aggregation, and decreased thrombus formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rap1b||
(F):5'- GGATCTTACCTTAATCAGACCAAGAC -3'
(R):5'- GCTCCCATGGGAATCTAGTCTAG -3'
(F):5'- GTGGCCTTTAAAGCTGCAAC -3'
(R):5'- CCCATGGGAATCTAGTCTAGTAATC -3'