Incidental Mutation 'IGL03292:Bbs2'
ID 415947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbs2
Ensembl Gene ENSMUSG00000031755
Gene Name Bardet-Biedl syndrome 2
Synonyms 2410125H22Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.674) question?
Stock # IGL03292
Quality Score
Status
Chromosome 8
Chromosomal Location 94794582-94825556 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 94801749 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172347
Coding Region Coverage
Validation Efficiency
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,765,827 (GRCm39) C713Y possibly damaging Het
Arhgap45 A G 10: 79,856,803 (GRCm39) N205S probably benign Het
Arhgef5 T G 6: 43,257,180 (GRCm39) F1244V probably damaging Het
Chsy1 A C 7: 65,775,120 (GRCm39) M150L probably benign Het
Dync1h1 T A 12: 110,632,989 (GRCm39) probably null Het
Efhc1 T C 1: 21,030,496 (GRCm39) I143T possibly damaging Het
Elf4 A C X: 47,503,583 (GRCm39) F642C probably damaging Het
Fgfr1 A G 8: 26,047,771 (GRCm39) D128G possibly damaging Het
Fras1 T A 5: 96,855,350 (GRCm39) I1953N probably damaging Het
Frmpd4 A T X: 166,260,586 (GRCm39) I1052K probably benign Het
Ift52 T A 2: 162,865,320 (GRCm39) I57N probably damaging Het
Lilrb4a G A 10: 51,370,942 (GRCm39) probably null Het
Mob3a A T 10: 80,526,920 (GRCm39) I135N probably benign Het
Pcdhb16 T A 18: 37,613,437 (GRCm39) I799N probably damaging Het
Rad52 T C 6: 119,895,934 (GRCm39) L265P possibly damaging Het
Sorbs1 T A 19: 40,362,009 (GRCm39) Q155L possibly damaging Het
Taok1 A T 11: 77,430,962 (GRCm39) M821K probably benign Het
Tars1 T A 15: 11,384,107 (GRCm39) E720V probably benign Het
Tec T C 5: 72,914,707 (GRCm39) E603G probably null Het
Timp1 A G X: 20,739,057 (GRCm39) T56A probably benign Het
Txnrd2 C A 16: 18,296,479 (GRCm39) H511Q possibly damaging Het
Ubr4 A T 4: 139,167,746 (GRCm39) D2743V probably damaging Het
Vmn1r211 C T 13: 23,036,613 (GRCm39) G18D probably damaging Het
Zfhx4 C T 3: 5,476,840 (GRCm39) Q3127* probably null 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
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
R6241:Bbs2 UTSW 8 94,824,863 (GRCm39) critical splice donor site probably null
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
Posted On 2016-08-02