Incidental Mutation 'R9741:Bbs5'
ID 731821
Institutional Source Beutler Lab
Gene Symbol Bbs5
Ensembl Gene ENSMUSG00000063145
Gene Name Bardet-Biedl syndrome 5
Synonyms 1700049I01Rik, 2700023J09Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9741 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 69477515-69497915 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69484695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 122 (T122A)
Ref Sequence ENSEMBL: ENSMUSP00000074494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074963] [ENSMUST00000112286] [ENSMUST00000134659]
AlphaFold Q9CZQ9
Predicted Effect probably benign
Transcript: ENSMUST00000074963
AA Change: T122A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000074494
Gene: ENSMUSG00000063145
AA Change: T122A

DomainStartEndE-ValueType
Pfam:DUF1448 7 339 6.2e-161 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112286
AA Change: T122A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107905
Gene: ENSMUSG00000063145
AA Change: T122A

DomainStartEndE-ValueType
Pfam:DUF1448 6 208 1.6e-100 PFAM
Pfam:DUF1448 206 319 9.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127806
SMART Domains Protein: ENSMUSP00000121691
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 22 90 9.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134659
SMART Domains Protein: ENSMUSP00000119377
Gene: ENSMUSG00000063145

DomainStartEndE-ValueType
Pfam:DUF1448 6 88 3.1e-36 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd6 T A 4: 32,860,339 (GRCm39) K35* probably null Het
Apoc3 G T 9: 46,145,998 (GRCm39) T5K unknown Het
Arhgap20 T A 9: 51,760,730 (GRCm39) Y860* probably null Het
Arhgef11 T C 3: 87,595,156 (GRCm39) S123P probably benign Het
Armh4 A G 14: 50,008,081 (GRCm39) I464T probably benign Het
Axdnd1 T A 1: 156,169,385 (GRCm39) Y827F probably benign Het
Btbd6 T A 12: 112,940,923 (GRCm39) D173E probably benign Het
Cblb T C 16: 51,932,490 (GRCm39) I149T probably damaging Het
Cyp2ab1 G A 16: 20,132,953 (GRCm39) R214C probably damaging Het
Dbn1 C T 13: 55,624,114 (GRCm39) S372N possibly damaging Het
Dlg1 T A 16: 31,676,735 (GRCm39) Y776* probably null Het
Dock9 A T 14: 121,877,516 (GRCm39) I409N probably damaging Het
Ect2 A T 3: 27,156,607 (GRCm39) N815K probably benign Het
Fbxw11 G T 11: 32,685,358 (GRCm39) V398L probably damaging Het
Gcsam T C 16: 45,436,319 (GRCm39) F34S possibly damaging Het
Ghsr G A 3: 27,428,898 (GRCm39) V308I possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
H1f10 A G 6: 87,958,200 (GRCm39) Y47H probably damaging Het
Hspg2 T C 4: 137,239,962 (GRCm39) F510S probably damaging Het
Htr1a T C 13: 105,581,861 (GRCm39) V367A possibly damaging Het
Iars1 T G 13: 49,844,978 (GRCm39) F163C probably damaging Het
Igfn1 T C 1: 135,895,383 (GRCm39) T1728A probably benign Het
Ighv7-3 C T 12: 114,116,995 (GRCm39) V56I probably benign Het
Lrp1b A T 2: 41,002,300 (GRCm39) I2133N Het
Lrrc37 T C 11: 103,504,255 (GRCm39) E2571G possibly damaging Het
Or2d2 A G 7: 106,728,366 (GRCm39) V78A possibly damaging Het
Or52z1 G T 7: 103,436,941 (GRCm39) P181H probably benign Het
Pkd1l1 T C 11: 8,897,224 (GRCm39) T562A Het
Ppp1r10 G A 17: 36,237,331 (GRCm39) R167Q possibly damaging Het
Ppp1r13l C T 7: 19,103,725 (GRCm39) R69W probably damaging Het
Proser2 G A 2: 6,105,580 (GRCm39) A328V probably benign Het
Rhou A G 8: 124,380,914 (GRCm39) Y77C possibly damaging Het
Rprml T A 11: 103,540,857 (GRCm39) L84Q probably damaging Het
Ryr3 C T 2: 112,477,271 (GRCm39) C4515Y probably benign Het
Slc9a3 T A 13: 74,306,994 (GRCm39) I373N possibly damaging Het
Snx21 C T 2: 164,634,231 (GRCm39) A339V probably benign Het
Srpk1 G A 17: 28,818,652 (GRCm39) P395S probably benign Het
Syt14 A T 1: 192,666,449 (GRCm39) S152T unknown Het
Urb2 G T 8: 124,755,751 (GRCm39) R486L probably damaging Het
Utrn T A 10: 12,702,564 (GRCm39) M7L probably benign Het
Vmn2r59 T A 7: 41,708,209 (GRCm39) D66V probably damaging Het
Znrf2 T C 6: 54,855,370 (GRCm39) I197T probably damaging Het
Other mutations in Bbs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Bbs5 APN 2 69,493,424 (GRCm39) missense probably benign
IGL01695:Bbs5 APN 2 69,479,434 (GRCm39) missense probably damaging 1.00
IGL02232:Bbs5 APN 2 69,485,895 (GRCm39) missense probably benign 0.37
IGL02418:Bbs5 APN 2 69,485,849 (GRCm39) makesense probably null
IGL03280:Bbs5 APN 2 69,497,315 (GRCm39) splice site probably benign
R4801:Bbs5 UTSW 2 69,485,958 (GRCm39) missense probably damaging 1.00
R4802:Bbs5 UTSW 2 69,485,958 (GRCm39) missense probably damaging 1.00
R4974:Bbs5 UTSW 2 69,477,578 (GRCm39) start gained probably benign
R6560:Bbs5 UTSW 2 69,487,300 (GRCm39) missense probably damaging 1.00
R6936:Bbs5 UTSW 2 69,484,698 (GRCm39) missense probably damaging 0.99
R7048:Bbs5 UTSW 2 69,484,705 (GRCm39) missense probably benign 0.44
Z1177:Bbs5 UTSW 2 69,495,415 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TGAACAATCCTGGTGACGTAG -3'
(R):5'- AGTCTTTCAAGGTGCTTCTTATCTG -3'

Sequencing Primer
(F):5'- GCTTAAGATAAGGCTTGCTTCCAC -3'
(R):5'- GGTGCTTCTTATCTGATAATGAAGTG -3'
Posted On 2022-11-14