Incidental Mutation 'R9753:Bbs12'
ID 732617
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 # R9753 (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 37373680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 43 (C43R)
Ref Sequence ENSEMBL: ENSMUSP00000103756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057975] [ENSMUST00000108121]
AlphaFold Q5SUD9
Predicted Effect possibly damaging
Transcript: ENSMUST00000057975
AA Change: C158R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: C158R

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 22 153 5.6e-8 PFAM
Pfam:Cpn60_TCP1 299 568 4.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108121
AA Change: C43R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: C43R

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 181 576 3.4e-13 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.3%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 G A 10: 41,259,496 (GRCm39) V843I Het
Brwd1 T C 16: 95,825,028 (GRCm39) E1145G probably damaging Het
C2cd4c A C 10: 79,448,067 (GRCm39) I360S probably damaging Het
Carmil2 A G 8: 106,417,539 (GRCm39) N599S probably damaging Het
Cd79b A G 11: 106,203,457 (GRCm39) probably null Het
Ces2c A G 8: 105,580,249 (GRCm39) M489V probably benign Het
Clip4 A G 17: 72,106,068 (GRCm39) N84D probably benign Het
Cramp1 T C 17: 25,191,320 (GRCm39) D1047G possibly damaging Het
Cyp2c69 C T 19: 39,865,991 (GRCm39) V201M probably benign Het
Dock2 A G 11: 34,223,673 (GRCm39) S1154P possibly damaging Het
Elk4 T G 1: 131,945,881 (GRCm39) V253G probably benign Het
Erbb4 T A 1: 68,238,062 (GRCm39) H809L probably benign Het
Ext1 A T 15: 53,208,067 (GRCm39) D231E probably damaging Het
Fam221b T C 4: 43,665,574 (GRCm39) K295E probably benign Het
Fbrsl1 A G 5: 110,526,835 (GRCm39) F2L unknown Het
Fnip2 C T 3: 79,415,411 (GRCm39) R209H probably benign Het
Gart C T 16: 91,430,949 (GRCm39) G371D probably damaging Het
Gata6 T A 18: 11,064,706 (GRCm39) V506D possibly damaging Het
Gba2 T C 4: 43,568,716 (GRCm39) Y620C probably damaging Het
Gprc6a T C 10: 51,504,364 (GRCm39) N160S probably benign Het
Gstm3 A G 3: 107,875,493 (GRCm39) W46R probably damaging Het
Hcn4 G A 9: 58,751,319 (GRCm39) R315H unknown Het
Hydin T C 8: 111,217,398 (GRCm39) F1429L possibly damaging Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Itgb1bp1 A G 12: 21,326,890 (GRCm39) S28P unknown Het
Krt10 A G 11: 99,279,792 (GRCm39) F123L unknown Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Lingo4 C T 3: 94,309,493 (GRCm39) R144* probably null Het
Ltbr G A 6: 125,284,348 (GRCm39) R365W probably damaging Het
Nrsn1 C A 13: 25,437,563 (GRCm39) V122L probably benign Het
Or10h5 C A 17: 33,434,688 (GRCm39) G210V possibly damaging Het
Or2r2 T C 6: 42,463,507 (GRCm39) M207V probably benign Het
Or4d6 T A 19: 12,086,056 (GRCm39) M59L probably benign Het
Pcgf6 T C 19: 47,023,073 (GRCm39) T353A probably damaging Het
Pcsk2 T C 2: 143,635,150 (GRCm39) Y342H probably damaging Het
Pou2af1 A T 9: 51,149,636 (GRCm39) N243Y possibly damaging Het
Prkcz T C 4: 155,377,659 (GRCm39) D197G probably benign Het
Sec14l4 G A 11: 3,989,982 (GRCm39) E94K probably benign Het
Sik2 T C 9: 50,807,139 (GRCm39) E757G probably damaging Het
Sipa1l1 T A 12: 82,463,763 (GRCm39) S1154T possibly damaging Het
Speer1k A T 5: 10,999,020 (GRCm39) T53S Het
Ssb T C 2: 69,697,865 (GRCm39) Y175H probably damaging Het
St6galnac6 T C 2: 32,502,261 (GRCm39) I50T probably benign Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tmcc1 G C 6: 115,999,071 (GRCm39) R323G possibly damaging Het
Unc13b C T 4: 43,182,842 (GRCm39) R396* probably null Het
Vezt A G 10: 93,806,183 (GRCm39) S743P probably benign Het
Vmn1r77 A C 7: 11,775,659 (GRCm39) N145T probably damaging Het
Vmn2r98 A C 17: 19,285,665 (GRCm39) T162P 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
R9404:Bbs12 UTSW 3 37,373,557 (GRCm39) missense probably damaging 0.99
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'- GAAGATTGTCTCCATCTGGGG -3'
(R):5'- TGCCTACTGTGAGCTAGTGC -3'

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