Incidental Mutation 'R9404:Bbs12'
ID 711380
Institutional Source Beutler Lab
Gene Symbol Bbs12
Ensembl Gene ENSMUSG00000051444
Gene Name Bardet-Biedl syndrome 12
Synonyms LOC241950, LOC386537, LOC241950
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R9404 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 37366703-37375602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37373557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 2 (S2P)
Ref Sequence ENSEMBL: ENSMUSP00000103756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000108121]
AlphaFold Q5SUD9
Predicted Effect probably damaging
Transcript: ENSMUST00000057975
AA Change: S117P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: S117P

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: S2P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: S2P

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 181 576 3.4e-13 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 T C 4: 106,615,509 (GRCm39) K314R possibly damaging Het
Armt1 AC A 10: 4,400,848 (GRCm39) probably null Het
Atad5 T C 11: 80,005,064 (GRCm39) V1167A probably damaging Het
Cdh11 A T 8: 103,406,254 (GRCm39) L73Q probably damaging Het
Cdk15 A G 1: 59,328,914 (GRCm39) E274G possibly damaging Het
Col27a1 T C 4: 63,194,178 (GRCm39) V845A possibly damaging Het
Cyp3a11 T C 5: 145,799,258 (GRCm39) T310A probably benign Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Ewsr1 A G 11: 5,022,940 (GRCm39) M388T unknown Het
Fat2 A G 11: 55,144,348 (GRCm39) probably null Het
Gm8225 T A 17: 26,762,034 (GRCm39) I75N probably damaging Het
Gsap A G 5: 21,474,919 (GRCm39) Y526C probably damaging Het
Hk1 T A 10: 62,131,859 (GRCm39) I203F possibly damaging Het
Insl5 T C 4: 102,875,535 (GRCm39) R72G probably benign Het
Iqcb1 T C 16: 36,671,632 (GRCm39) V321A probably damaging Het
Iqcd A C 5: 120,738,601 (GRCm39) T140P Het
Kcnt2 T A 1: 140,353,107 (GRCm39) I272K probably damaging Het
Klhl25 A C 7: 75,515,153 (GRCm39) I20L probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrba T C 3: 86,205,224 (GRCm39) V356A probably damaging Het
Mast4 A G 13: 102,887,933 (GRCm39) Y1159H probably damaging Het
Mavs T A 2: 131,083,818 (GRCm39) L105Q probably damaging Het
Megf6 T A 4: 154,348,225 (GRCm39) C902S Het
Mmp17 A G 5: 129,682,741 (GRCm39) D460G possibly damaging Het
Myh2 G T 11: 67,070,454 (GRCm39) A466S probably damaging Het
Neb T C 2: 52,147,788 (GRCm39) N2744D probably damaging Het
Oga CTCGGGTC CTC 19: 45,743,096 (GRCm39) probably null Het
Or13a26 T A 7: 140,284,722 (GRCm39) L186H probably damaging Het
Or2a12 T C 6: 42,904,750 (GRCm39) V195A probably benign Het
Or2aj4 C T 16: 19,384,731 (GRCm39) V301M probably benign Het
Or4a27 T A 2: 88,559,551 (GRCm39) M131L probably benign Het
Or6d13 T G 6: 116,517,708 (GRCm39) I98S probably damaging Het
Or8g55 A T 9: 39,784,708 (GRCm39) I46F possibly damaging Het
Parpbp A G 10: 87,950,411 (GRCm39) V323A possibly damaging Het
Pax5 G A 4: 44,645,565 (GRCm39) P255S possibly damaging Het
Pcdhga2 A G 18: 37,803,067 (GRCm39) T304A probably benign Het
Pcsk1 T G 13: 75,280,342 (GRCm39) S722R probably benign Het
Pcsk9 C A 4: 106,311,723 (GRCm39) R218L probably damaging Het
Pds5a T A 5: 65,776,307 (GRCm39) I96F probably damaging Het
Pkdrej C A 15: 85,703,270 (GRCm39) V889L probably benign Het
Plekhh2 A T 17: 84,878,468 (GRCm39) probably null Het
Pnn A G 12: 59,118,758 (GRCm39) E447G probably damaging Het
Ppp2r3d A G 9: 101,025,840 (GRCm39) L289P probably damaging Het
Ppp6r2 A G 15: 89,152,753 (GRCm39) H298R probably benign Het
Ptpn23 T C 9: 110,216,025 (GRCm39) N1277S Het
Pus10 T A 11: 23,661,202 (GRCm39) F263L possibly damaging Het
Rexo5 A G 7: 119,400,542 (GRCm39) Y109C probably damaging Het
Rnf185 A T 11: 3,382,615 (GRCm39) C23* probably null Het
Runx1 T C 16: 92,485,915 (GRCm39) N140D probably benign Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Scn9a G A 2: 66,357,040 (GRCm39) T1087I probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 TC TCAGCCACGGGGACCAGCCC 7: 126,066,771 (GRCm39) probably benign Het
Slc7a11 T C 3: 50,335,488 (GRCm39) H350R possibly damaging Het
Spaca6 T C 17: 18,057,800 (GRCm39) C155R probably damaging Het
Spire2 C T 8: 124,090,077 (GRCm39) R580* probably null Het
Srgap3 A T 6: 112,706,616 (GRCm39) M851K probably benign Het
Themis A G 10: 28,665,743 (GRCm39) D602G probably benign Het
Tlcd4 T C 3: 121,028,731 (GRCm39) N52S probably benign Het
Trak2 T C 1: 58,960,296 (GRCm39) T236A possibly damaging Het
Trrap T C 5: 144,752,225 (GRCm39) C1709R possibly damaging Het
Ttn A T 2: 76,584,500 (GRCm39) S22203T probably damaging Het
Tut7 A T 13: 59,947,701 (GRCm39) N873K probably benign Het
Ube3a A G 7: 58,936,763 (GRCm39) T701A probably damaging Het
Ufl1 T C 4: 25,275,912 (GRCm39) I164V probably benign Het
Vcpip1 T C 1: 9,817,856 (GRCm39) T176A probably damaging Het
Virma T A 4: 11,513,626 (GRCm39) D493E probably benign Het
Vmn2r77 T A 7: 86,451,247 (GRCm39) W378R probably benign Het
Vps13b A T 15: 35,876,565 (GRCm39) T2799S probably damaging Het
Vps8 T C 16: 21,426,927 (GRCm39) S1337P probably benign Het
Zfp235 A T 7: 23,839,862 (GRCm39) I94F possibly damaging Het
Zfp3 A G 11: 70,663,366 (GRCm39) K442E probably damaging Het
Zfp418 A T 7: 7,185,104 (GRCm39) I356F possibly damaging Het
Zfp790 G A 7: 29,525,185 (GRCm39) G68S probably benign 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
R6562:Bbs12 UTSW 3 37,374,389 (GRCm39) missense probably damaging 1.00
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
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'- ATTTAACCTGTGCAGTGGGG -3'
(R):5'- AGCATGTCTCCCAGAAAGAC -3'

Sequencing Primer
(F):5'- GCACCTTCTCAACGAAGCAGTTC -3'
(R):5'- CATGTCTCCCAGAAAGACTGTAAGTG -3'
Posted On 2022-05-16