Incidental Mutation 'R6562:Bbs12'
ID 522412
Institutional Source Beutler Lab
Gene Symbol Bbs12
Ensembl Gene ENSMUSG00000051444
Gene Name Bardet-Biedl syndrome 12
Synonyms LOC241950, LOC386537, LOC241950
MMRRC Submission 044686-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R6562 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 37366703-37375602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37374389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 394 (E394G)
Ref Sequence ENSEMBL: ENSMUSP00000052179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000108121]
AlphaFold Q5SUD9
Predicted Effect probably damaging
Transcript: ENSMUST00000057975
AA Change: E394G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: E394G

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 22 153 5.6e-8 PFAM
Pfam:Cpn60_TCP1 299 568 4.1e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108121
AA Change: E279G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: E279G

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 181 576 3.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138710
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit enhanced adipogenesis, late onset obesity, increased susceptibility to diet-induced obesity, increased insulin sensitivity, increased glucose usage, and decreased inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik A G 3: 89,970,543 (GRCm39) K26E probably benign Het
Abt1 T G 13: 23,607,758 (GRCm39) E82A probably damaging Het
Actr8 A G 14: 29,708,411 (GRCm39) probably null Het
Akap12 G T 10: 4,306,141 (GRCm39) E984* probably null Het
Ankrd13a C A 5: 114,942,453 (GRCm39) probably benign Het
Ankrd13c T A 3: 157,705,309 (GRCm39) S411T probably damaging Het
Arhgef28 A G 13: 98,124,647 (GRCm39) probably null Het
Arhgef3 A T 14: 26,874,953 (GRCm39) probably benign Het
Atad5 T C 11: 80,024,032 (GRCm39) S1712P probably benign Het
Ccdc158 T G 5: 92,810,581 (GRCm39) K102N probably damaging Het
Ccdc169 A G 3: 55,058,235 (GRCm39) N89S probably damaging Het
Cd200l1 C T 16: 45,264,442 (GRCm39) E39K probably benign Het
Cenpu T C 8: 47,025,858 (GRCm39) I132T possibly damaging Het
Cnrip1 G A 11: 17,028,539 (GRCm39) W157* probably null Het
Ctnnd1 A G 2: 84,454,652 (GRCm39) S53P probably benign Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Dock7 A T 4: 98,879,647 (GRCm39) V969D probably damaging Het
Ehd2 C A 7: 15,691,492 (GRCm39) R280L probably benign Het
Entpd5 T C 12: 84,432,974 (GRCm39) T218A probably damaging Het
Fcrl2 A C 3: 87,164,635 (GRCm39) I297S probably benign Het
Frmpd2 T A 14: 33,293,872 (GRCm39) L1346Q probably benign Het
Fry T C 5: 150,249,614 (GRCm39) S142P probably damaging Het
Gbgt1 A T 2: 28,394,898 (GRCm39) I179F probably damaging Het
Gm17067 A T 7: 42,358,153 (GRCm39) S116R probably damaging Het
Gm5565 G T 5: 146,094,964 (GRCm39) P261T probably damaging Het
Kat6a T C 8: 23,401,803 (GRCm39) F391L probably benign Het
Kcnmb4 A T 10: 116,309,089 (GRCm39) probably null Het
Krt6a T A 15: 101,600,094 (GRCm39) H386L probably benign Het
L3mbtl1 C T 2: 162,812,124 (GRCm39) T723I probably benign Het
Lamb2 A T 9: 108,364,207 (GRCm39) R1049W possibly damaging Het
Lrmda T C 14: 22,648,254 (GRCm39) probably benign Het
Lysmd2 C T 9: 75,542,691 (GRCm39) T95I unknown Het
Ndst3 A G 3: 123,346,181 (GRCm39) S698P probably damaging Het
Nin T C 12: 70,102,728 (GRCm39) D300G probably damaging Het
Nutf2 G T 8: 106,602,258 (GRCm39) D23Y probably benign Het
Or6c211 G A 10: 129,506,008 (GRCm39) P127S probably damaging Het
Ovgp1 A G 3: 105,887,589 (GRCm39) Y300C probably damaging Het
Pgghg A G 7: 140,526,506 (GRCm39) I633V probably benign Het
Pik3r3 C T 4: 116,157,006 (GRCm39) Q496* probably null Het
Pkn3 G T 2: 29,970,699 (GRCm39) probably null Het
Plin2 A T 4: 86,576,832 (GRCm39) S298T probably benign Het
Prdm8 T C 5: 98,331,202 (GRCm39) V18A possibly damaging Het
Rel C A 11: 23,707,026 (GRCm39) G59* probably null Het
Siglecg A G 7: 43,058,481 (GRCm39) R123G possibly damaging Het
Slc13a1 T A 6: 24,150,792 (GRCm39) I49F probably benign Het
Slc39a10 T A 1: 46,874,724 (GRCm39) T193S probably benign Het
Slc9a3 T A 13: 74,303,280 (GRCm39) V191E probably damaging Het
Spata31e2 T A 1: 26,721,443 (GRCm39) T1246S possibly damaging Het
Sult2b1 A C 7: 45,391,670 (GRCm39) S39A probably benign Het
Tead1 A G 7: 112,460,650 (GRCm39) T185A probably benign Het
Tmem67 A G 4: 12,053,445 (GRCm39) probably null Het
Trim12c A T 7: 103,994,341 (GRCm39) probably null Het
Trpm6 T A 19: 18,815,406 (GRCm39) F1164Y probably damaging Het
Ube2d1 C T 10: 71,098,071 (GRCm39) D16N probably benign Het
Vmn2r24 A T 6: 123,757,386 (GRCm39) I85F probably benign Het
Vwde T A 6: 13,193,122 (GRCm39) N406Y possibly damaging Het
Wdr54 A T 6: 83,132,050 (GRCm39) probably null Het
Zcchc14 A T 8: 122,330,842 (GRCm39) N840K probably damaging Het
Zfp451 C A 1: 33,801,260 (GRCm39) S1052I possibly damaging Het
Other mutations in Bbs12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Bbs12 APN 3 37,374,346 (GRCm39) missense probably damaging 1.00
IGL00698:Bbs12 APN 3 37,374,943 (GRCm39) missense probably benign 0.00
IGL02105:Bbs12 APN 3 37,374,296 (GRCm39) missense probably damaging 1.00
IGL02110:Bbs12 APN 3 37,373,336 (GRCm39) missense probably benign 0.01
IGL03036:Bbs12 APN 3 37,373,343 (GRCm39) missense possibly damaging 0.86
haribo UTSW 3 37,374,529 (GRCm39) missense probably damaging 1.00
R0310:Bbs12 UTSW 3 37,375,194 (GRCm39) missense probably damaging 1.00
R1888:Bbs12 UTSW 3 37,374,712 (GRCm39) missense probably damaging 1.00
R1888:Bbs12 UTSW 3 37,374,712 (GRCm39) missense probably damaging 1.00
R2061:Bbs12 UTSW 3 37,373,215 (GRCm39) missense probably damaging 0.97
R2152:Bbs12 UTSW 3 37,375,309 (GRCm39) nonsense probably null
R4455:Bbs12 UTSW 3 37,374,461 (GRCm39) missense probably damaging 1.00
R4472:Bbs12 UTSW 3 37,373,369 (GRCm39) missense possibly damaging 0.95
R4762:Bbs12 UTSW 3 37,374,529 (GRCm39) missense probably damaging 1.00
R5208:Bbs12 UTSW 3 37,374,422 (GRCm39) missense probably benign 0.07
R5841:Bbs12 UTSW 3 37,373,670 (GRCm39) missense probably benign 0.05
R5864:Bbs12 UTSW 3 37,373,639 (GRCm39) missense probably damaging 1.00
R5872:Bbs12 UTSW 3 37,374,598 (GRCm39) missense possibly damaging 0.83
R5941:Bbs12 UTSW 3 37,374,197 (GRCm39) missense probably damaging 0.98
R5954:Bbs12 UTSW 3 37,374,151 (GRCm39) missense possibly damaging 0.95
R6125:Bbs12 UTSW 3 37,374,700 (GRCm39) missense probably benign 0.01
R6886:Bbs12 UTSW 3 37,373,390 (GRCm39) missense probably damaging 1.00
R7454:Bbs12 UTSW 3 37,375,102 (GRCm39) missense possibly damaging 0.95
R9130:Bbs12 UTSW 3 37,373,205 (GRCm39) intron probably benign
R9190:Bbs12 UTSW 3 37,375,223 (GRCm39) missense probably damaging 1.00
R9288:Bbs12 UTSW 3 37,374,712 (GRCm39) missense probably damaging 1.00
R9404:Bbs12 UTSW 3 37,373,557 (GRCm39) missense probably damaging 0.99
R9753:Bbs12 UTSW 3 37,373,680 (GRCm39) missense possibly damaging 0.79
R9792:Bbs12 UTSW 3 37,374,224 (GRCm39) missense possibly damaging 0.59
R9795:Bbs12 UTSW 3 37,374,224 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- CAACTGGATGGCACCCTTTATG -3'
(R):5'- TTGTGGCCTCTGCAAATGCC -3'

Sequencing Primer
(F):5'- CCCGTGTTGGTCTAGGATATGTCAC -3'
(R):5'- TGCCTGCAACACACTGC -3'
Posted On 2018-06-06