|Institutional Source||Beutler Lab|
|Gene Name||Bardet-Biedl syndrome 2 (human)|
|Is this an essential gene?||Possibly essential (E-score: 0.719)|
|Stock #||R8004 (G1)|
|Chromosomal Location||94067954-94098928 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 94082490 bp|
|Amino Acid Change||Valine to Alanine at position 269 (V269A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034206 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034206]|
|Predicted Effect||possibly damaging
AA Change: V269A
PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: V269A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous null mice display obesity associated with polyphagia, retinopathy associated with mislocalization of rhodopsin, cilia defects, renal cysts, male sterility, abnormal brain neuroanatomy, reduced salivation and acoustic startle response, an olfactory deficit and abnormal social interaction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bbs2||
(F):5'- TGCAGAATTCATTTTCAGGCATTTT -3'
(R):5'- ATTATATGTGTGCATGCCTGTGT -3'
(F):5'- AGGCATTTTTAACCTGATCAAATTG -3'
(R):5'- CCTCCCAAGTGCTAGGATTATAGG -3'