Incidental Mutation 'IGL02250:Bbs2'
ID 286358
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 # IGL02250
Quality Score
Status
Chromosome 8
Chromosomal Location 94794582-94825556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94819054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 105 (I105N)
Ref Sequence ENSEMBL: ENSMUSP00000034206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034206]
AlphaFold Q9CWF6
Predicted Effect probably benign
Transcript: ENSMUST00000034206
AA Change: I105N

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755
AA Change: I105N

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T A 7: 28,329,135 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Areg T A 5: 91,288,967 (GRCm39) I91K possibly damaging Het
Arf1 G A 11: 59,103,993 (GRCm39) R79C probably benign Het
Ccdc158 A T 5: 92,756,337 (GRCm39) I1090N probably damaging Het
Ccdc90b T A 7: 92,223,823 (GRCm39) probably benign Het
Cep57 A T 9: 13,721,939 (GRCm39) F221I probably damaging Het
Ckap5 C T 2: 91,379,246 (GRCm39) A62V probably damaging Het
Cntn5 G A 9: 10,145,336 (GRCm39) R125C probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cxxc1 T A 18: 74,352,240 (GRCm39) D321E probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dnm1l A G 16: 16,139,550 (GRCm39) probably benign Het
Eif2d T A 1: 131,088,166 (GRCm39) S184T probably benign Het
Emcn T A 3: 137,124,747 (GRCm39) probably benign Het
Fry A T 5: 150,326,899 (GRCm39) probably benign Het
Gas2 T A 7: 51,537,786 (GRCm39) M37K probably damaging Het
Habp2 A G 19: 56,297,361 (GRCm39) S100G probably benign Het
Kcnj5 A G 9: 32,229,052 (GRCm39) C49R probably damaging Het
Lhx2 T A 2: 38,244,845 (GRCm39) D236E probably benign Het
Megf8 T A 7: 25,042,000 (GRCm39) S1273T probably benign Het
Mrps2 T C 2: 28,359,557 (GRCm39) I138T possibly damaging Het
Mta1 T C 12: 113,090,418 (GRCm39) S175P possibly damaging Het
Npat T A 9: 53,460,251 (GRCm39) Y66* probably null Het
Nup160 A G 2: 90,539,214 (GRCm39) R798G probably damaging Het
Or52n2c T C 7: 104,574,222 (GRCm39) I250V probably damaging Het
Or8b54 C A 9: 38,686,850 (GRCm39) Q100K probably damaging Het
Plxnc1 C T 10: 94,706,893 (GRCm39) G548E probably benign Het
Radil A G 5: 142,529,529 (GRCm39) S56P probably damaging Het
Rpgrip1l A T 8: 91,959,489 (GRCm39) M1137K probably benign Het
Serpina1c T G 12: 103,863,487 (GRCm39) M238L probably benign Het
Tbc1d14 A G 5: 36,728,863 (GRCm39) S168P probably damaging Het
Tmem209 A G 6: 30,487,387 (GRCm39) S498P probably damaging Het
Utrn A G 10: 12,312,135 (GRCm39) Y607H probably damaging Het
Vipr1 A G 9: 121,494,255 (GRCm39) I279V probably benign Het
Vmn2r67 T G 7: 84,805,008 (GRCm39) N35H probably benign Het
Xirp2 C T 2: 67,344,356 (GRCm39) T2199I probably benign Het
Zfp423 A G 8: 88,509,883 (GRCm39) S86P probably damaging Het
Zfp831 A G 2: 174,489,994 (GRCm39) K1254E possibly damaging Het
Zfp873 T A 10: 81,894,252 (GRCm39) M1K probably null Het
Other mutations in Bbs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Bbs2 APN 8 94,815,795 (GRCm39) critical splice acceptor site probably null
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
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 2015-04-16