Incidental Mutation 'R6241:Bbs2'
ID 505246
Institutional Source Beutler Lab
Gene Symbol Bbs2
Ensembl Gene ENSMUSG00000031755
Gene Name Bardet-Biedl syndrome 2
Synonyms 2410125H22Rik
MMRRC Submission 044402-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.674) question?
Stock # R6241 (G1)
Quality Score 135.008
Status Validated
Chromosome 8
Chromosomal Location 94794582-94825556 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 94824863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034206]
AlphaFold Q9CWF6
Predicted Effect probably null
Transcript: ENSMUST00000034206
SMART Domains Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755

DomainStartEndE-ValueType
Pfam:BBS2_N 20 161 1.4e-62 PFAM
Pfam:BBS2_Mid 162 272 6.9e-50 PFAM
Pfam:BBS2_C 276 715 2.6e-193 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (51/52)
MGI Phenotype 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
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,623,788 (GRCm39) I385V probably benign Het
Ablim2 A G 5: 36,032,241 (GRCm39) D622G probably damaging Het
Acsbg1 A T 9: 54,549,946 (GRCm39) S86T probably damaging Het
Adam34l T A 8: 44,079,133 (GRCm39) I364L probably benign Het
Ank2 A C 3: 126,846,397 (GRCm39) D199E probably damaging Het
Art2a T A 7: 101,204,452 (GRCm39) M29L probably benign Het
Brwd1 A T 16: 95,815,074 (GRCm39) I1402N probably damaging Het
C1qtnf9 C A 14: 61,017,069 (GRCm39) P200T possibly damaging Het
Ciita T C 16: 10,329,767 (GRCm39) Y684H probably damaging Het
Dennd1c T C 17: 57,373,272 (GRCm39) N734D probably benign Het
Depdc1b A T 13: 108,460,653 (GRCm39) I88F possibly damaging Het
Dsg2 A G 18: 20,723,274 (GRCm39) probably null Het
Foxp2 A G 6: 15,394,761 (GRCm39) T154A probably damaging Het
Gmeb1 A T 4: 131,969,688 (GRCm39) V95D possibly damaging Het
Gmeb1 A G 4: 131,973,324 (GRCm39) S62P probably benign Het
Golga5 T A 12: 102,438,732 (GRCm39) V149D probably damaging Het
H1f7 A C 15: 98,154,652 (GRCm39) S166A unknown Het
Hivep1 T C 13: 42,311,846 (GRCm39) L1362P probably benign Het
Ift81 T C 5: 122,740,414 (GRCm39) M205V probably benign Het
Iglv3 T A 16: 19,059,968 (GRCm39) Q120L possibly damaging Het
Ints9 C T 14: 65,217,659 (GRCm39) T62I possibly damaging Het
Itga1 G T 13: 115,096,673 (GRCm39) probably null Het
Katnip C T 7: 125,472,006 (GRCm39) H1532Y probably benign Het
Krt77 A C 15: 101,773,988 (GRCm39) I222S probably damaging Het
Mrps25 A G 6: 92,160,819 (GRCm39) probably null Het
Mrps27 A G 13: 99,548,754 (GRCm39) T297A probably benign Het
Mup15 A T 4: 61,357,850 (GRCm39) L7Q unknown Het
Naip1 T A 13: 100,562,169 (GRCm39) I999F probably damaging Het
Ndst1 A G 18: 60,836,901 (GRCm39) F387L probably damaging Het
Nudt9 T C 5: 104,202,151 (GRCm39) S71P probably damaging Het
Or14c41 C A 7: 86,235,245 (GRCm39) A254D probably benign Het
Or2b4 A G 17: 38,116,432 (GRCm39) Y132C probably damaging Het
Or5al1 T G 2: 85,990,380 (GRCm39) E111D probably damaging Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pcolce A C 5: 137,603,496 (GRCm39) S446A probably benign Het
Per2 T A 1: 91,349,251 (GRCm39) N1040I probably damaging Het
Pla2g6 A T 15: 79,188,592 (GRCm39) S422T probably benign Het
Pla2r1 G T 2: 60,332,543 (GRCm39) probably null Het
Plcb4 T C 2: 135,752,094 (GRCm39) V100A possibly damaging Het
Polr1d C T 5: 147,015,533 (GRCm39) T72M probably benign Het
Psd3 A C 8: 68,270,791 (GRCm39) probably benign Het
Radil T C 5: 142,480,697 (GRCm39) E586G probably damaging Het
Rnf150 A G 8: 83,591,093 (GRCm39) N152S possibly damaging Het
Serpina1b T A 12: 103,695,515 (GRCm39) probably null Het
Setd3 C T 12: 108,124,114 (GRCm39) E192K probably benign Het
Ssu2 G A 6: 112,351,781 (GRCm39) H315Y probably damaging Het
Taok3 T A 5: 117,410,262 (GRCm39) M818K probably benign Het
Tmem131l T C 3: 83,829,471 (GRCm39) N1062S probably benign Het
Tmx4 C T 2: 134,481,425 (GRCm39) probably benign Het
Traip G A 9: 107,845,933 (GRCm39) C342Y probably benign Het
Traj9 G T 14: 54,446,890 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vegfc T C 8: 54,634,289 (GRCm39) S323P probably benign Het
Vinac1 T C 2: 128,879,301 (GRCm39) D875G possibly damaging Het
Other mutations in Bbs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Bbs2 APN 8 94,815,795 (GRCm39) critical splice acceptor site probably null
IGL02250:Bbs2 APN 8 94,819,054 (GRCm39) missense probably benign 0.22
IGL02427:Bbs2 APN 8 94,807,746 (GRCm39) missense possibly damaging 0.92
IGL02810:Bbs2 APN 8 94,813,539 (GRCm39) missense probably benign 0.00
IGL02850:Bbs2 APN 8 94,803,710 (GRCm39) missense probably benign
IGL03050:Bbs2 APN 8 94,801,041 (GRCm39) splice site probably benign
IGL03292:Bbs2 APN 8 94,801,749 (GRCm39) critical splice donor site probably null
Gosling UTSW 8 94,809,118 (GRCm39) missense possibly damaging 0.95
rolie UTSW 8 94,808,992 (GRCm39) missense probably damaging 0.96
BB007:Bbs2 UTSW 8 94,796,625 (GRCm39) missense probably damaging 1.00
BB017:Bbs2 UTSW 8 94,796,625 (GRCm39) missense probably damaging 1.00
R0755:Bbs2 UTSW 8 94,808,708 (GRCm39) missense probably benign 0.22
R0835:Bbs2 UTSW 8 94,801,887 (GRCm39) missense probably damaging 1.00
R1404:Bbs2 UTSW 8 94,808,627 (GRCm39) missense probably null 0.01
R1404:Bbs2 UTSW 8 94,808,627 (GRCm39) missense probably null 0.01
R1513:Bbs2 UTSW 8 94,816,472 (GRCm39) missense possibly damaging 0.94
R1972:Bbs2 UTSW 8 94,807,805 (GRCm39) splice site probably benign
R4648:Bbs2 UTSW 8 94,807,507 (GRCm39) missense probably damaging 1.00
R4876:Bbs2 UTSW 8 94,796,788 (GRCm39) unclassified probably benign
R4911:Bbs2 UTSW 8 94,815,743 (GRCm39) missense probably damaging 1.00
R4966:Bbs2 UTSW 8 94,807,435 (GRCm39) missense probably damaging 1.00
R4982:Bbs2 UTSW 8 94,808,982 (GRCm39) critical splice donor site probably null
R5202:Bbs2 UTSW 8 94,819,042 (GRCm39) nonsense probably null
R5347:Bbs2 UTSW 8 94,819,178 (GRCm39) missense probably damaging 0.98
R5364:Bbs2 UTSW 8 94,801,023 (GRCm39) missense probably benign 0.00
R5538:Bbs2 UTSW 8 94,816,391 (GRCm39) missense probably damaging 1.00
R5685:Bbs2 UTSW 8 94,814,061 (GRCm39) missense probably damaging 1.00
R5918:Bbs2 UTSW 8 94,824,931 (GRCm39) missense probably damaging 0.98
R5963:Bbs2 UTSW 8 94,807,659 (GRCm39) missense probably benign 0.02
R5964:Bbs2 UTSW 8 94,794,995 (GRCm39) missense probably benign 0.18
R5991:Bbs2 UTSW 8 94,824,914 (GRCm39) missense probably benign 0.24
R6050:Bbs2 UTSW 8 94,819,160 (GRCm39) missense probably damaging 1.00
R6172:Bbs2 UTSW 8 94,814,039 (GRCm39) missense probably benign 0.02
R6578:Bbs2 UTSW 8 94,803,669 (GRCm39) missense probably null 0.00
R7330:Bbs2 UTSW 8 94,814,033 (GRCm39) missense possibly damaging 0.78
R7404:Bbs2 UTSW 8 94,808,992 (GRCm39) missense probably damaging 0.96
R7775:Bbs2 UTSW 8 94,816,388 (GRCm39) critical splice donor site probably null
R7778:Bbs2 UTSW 8 94,816,388 (GRCm39) critical splice donor site probably null
R7824:Bbs2 UTSW 8 94,816,388 (GRCm39) critical splice donor site probably null
R7895:Bbs2 UTSW 8 94,807,764 (GRCm39) missense probably damaging 1.00
R7930:Bbs2 UTSW 8 94,796,625 (GRCm39) missense probably damaging 1.00
R8004:Bbs2 UTSW 8 94,809,118 (GRCm39) missense possibly damaging 0.95
R8084:Bbs2 UTSW 8 94,814,056 (GRCm39) missense probably damaging 1.00
R8305:Bbs2 UTSW 8 94,800,953 (GRCm39) missense probably damaging 1.00
R8545:Bbs2 UTSW 8 94,813,352 (GRCm39) missense probably benign
R9262:Bbs2 UTSW 8 94,807,543 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAACACTGAGAACCTGGTG -3'
(R):5'- CTAGTTGGGACTTGCGTAGC -3'

Sequencing Primer
(F):5'- ACTTTGATGGGACTGGAG -3'
(R):5'- TCATCCGCTGCTAGGCAAC -3'
Posted On 2018-02-28