Incidental Mutation 'R5991:Bbs2'
ID 482015
Institutional Source Beutler Lab
Gene Symbol Bbs2
Ensembl Gene ENSMUSG00000031755
Gene Name Bardet-Biedl syndrome 2
Synonyms 2410125H22Rik
MMRRC Submission 044171-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.674) question?
Stock # R5991 (G1)
Quality Score 92.0077
Status Validated
Chromosome 8
Chromosomal Location 94794582-94825556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 94824914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 23 (R23S)
Ref Sequence ENSEMBL: ENSMUSP00000034206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034206]
AlphaFold Q9CWF6
Predicted Effect probably benign
Transcript: ENSMUST00000034206
AA Change: R23S

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755
AA Change: R23S

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
Meta Mutation Damage Score 0.1312 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 96% (53/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,777,032 (GRCm39) R683Q probably damaging Het
Adam8 T A 7: 139,570,200 (GRCm39) H69L probably damaging Het
Bod1l A T 5: 41,974,206 (GRCm39) C2369* probably null Het
Capn11 G T 17: 45,970,278 (GRCm39) probably null Het
Carmil2 A G 8: 106,418,023 (GRCm39) Q679R probably null Het
Cep120 T C 18: 53,854,870 (GRCm39) I422V probably benign Het
Cnot7 A C 8: 40,948,696 (GRCm39) probably null Het
Col1a1 T C 11: 94,828,745 (GRCm39) V29A unknown Het
Dnttip1 A T 2: 164,596,100 (GRCm39) Q115L possibly damaging Het
Dyrk4 A G 6: 126,857,188 (GRCm39) V497A probably benign Het
Ep300 A G 15: 81,532,667 (GRCm39) D1635G unknown Het
Ercc5 T A 1: 44,219,990 (GRCm39) C1087* probably null Het
Fap A T 2: 62,348,865 (GRCm39) M517K probably damaging Het
Focad C A 4: 88,319,256 (GRCm39) D1574E possibly damaging Het
Fsip2 C T 2: 82,820,812 (GRCm39) P5515L probably benign Het
Gpr158 T C 2: 21,373,319 (GRCm39) Y85H probably damaging Het
Hc A G 2: 34,896,117 (GRCm39) V1222A possibly damaging Het
Hipk3 C T 2: 104,268,328 (GRCm39) M546I probably damaging Het
Jup T C 11: 100,270,395 (GRCm39) N371D possibly damaging Het
Ltbp4 A G 7: 27,008,741 (GRCm39) Y1262H probably damaging Het
Lyar A G 5: 38,385,209 (GRCm39) E83G probably damaging Het
Lyg2 C T 1: 37,954,800 (GRCm39) probably null Het
Mtmr11 T A 3: 96,075,905 (GRCm39) probably null Het
Myct1 A T 10: 5,554,426 (GRCm39) R98* probably null Het
Nol11 T C 11: 107,061,971 (GRCm39) T612A probably benign Het
Or2l5 T C 16: 19,333,507 (GRCm39) N293S probably damaging Het
Or4b1d T A 2: 89,968,578 (GRCm39) K302* probably null Het
Or4c113 C T 2: 88,885,126 (GRCm39) V215I probably benign Het
Or4f61 C T 2: 111,922,960 (GRCm39) V29M probably benign Het
Or5m9 A G 2: 85,877,254 (GRCm39) I143V probably benign Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pcdhb3 T C 18: 37,434,561 (GRCm39) S176P probably benign Het
Pdcd1lg2 C T 19: 29,431,867 (GRCm39) R212W probably benign Het
Plin3 T C 17: 56,593,576 (GRCm39) Y46C probably damaging Het
Rfx7 G A 9: 72,526,820 (GRCm39) E1337K possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ryr1 G T 7: 28,804,035 (GRCm39) N584K probably damaging Het
Scmh1 T C 4: 120,379,817 (GRCm39) V544A probably benign Het
Sdk2 G A 11: 113,834,080 (GRCm39) T34M probably damaging Het
Serpinb9e T A 13: 33,443,790 (GRCm39) L270H probably damaging Het
Shoc2 T A 19: 53,991,480 (GRCm39) N248K probably damaging Het
Sirpd G T 3: 15,385,818 (GRCm39) A28E probably benign Het
Slc25a4 T C 8: 46,662,373 (GRCm39) Y95C probably damaging Het
Slc4a1ap A G 5: 31,691,413 (GRCm39) N403S possibly damaging Het
Spink10 T A 18: 62,790,956 (GRCm39) W7R probably null Het
Ssrp1 A G 2: 84,872,640 (GRCm39) K426R possibly damaging Het
Tbc1d24 G A 17: 24,428,043 (GRCm39) probably benign Het
Tead3 A T 17: 28,553,352 (GRCm39) probably null Het
Timd4 A G 11: 46,734,030 (GRCm39) *344W probably null Het
Tmem181a T A 17: 6,339,312 (GRCm39) W115R probably damaging Het
Tmem245 G A 4: 56,916,733 (GRCm39) T65I probably damaging Het
Vmn1r12 G C 6: 57,136,640 (GRCm39) V202L probably damaging Het
Vmn1r80 A G 7: 11,927,423 (GRCm39) T178A probably benign Het
Vps33b T A 7: 79,933,162 (GRCm39) probably null Het
Zmym6 T A 4: 127,002,266 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TTGATGGGACTGGAGCCAAG -3'
(R):5'- CTAGTTGGGACTTGCGTAGCTC -3'

Sequencing Primer
(F):5'- CTGGAGCCAAGGACAGC -3'
(R):5'- AGAGTTGGCGACACCGATC -3'
Posted On 2017-06-26