Mutagenetix > Incidental Mutation

Incidental Mutation 'R9190:Bbs12'

697666

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: 0.080) question?

Stock #

R9190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37366703-37375602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37375223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 557 (R557L)

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: R672L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052179
Gene: ENSMUSG00000051444
AA Change: R672L

Domain	Start	End	E-Value	Type
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: R557L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103756
Gene: ENSMUSG00000051444
AA Change: R557L

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	181	576	3.4e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,642,880 (GRCm39)	T183I	possibly damaging	Het
Abca13	T	A	11: 9,241,886 (GRCm39)	S1250T	probably damaging	Het
Adamts12	T	A	15: 11,336,446 (GRCm39)	S1510R	probably benign	Het
Adcy5	T	A	16: 35,089,364 (GRCm39)	C520*	probably null	Het
Arhgap21	A	T	2: 20,858,983 (GRCm39)	M1237K	probably null	Het
Atp8b4	T	A	2: 126,225,607 (GRCm39)	N541I	probably damaging	Het
Bcl7c	T	C	7: 127,266,200 (GRCm39)	T183A	probably benign	Het
Brd7	A	G	8: 89,081,274 (GRCm39)	S192P	probably damaging	Het
Calhm3	G	A	19: 47,146,121 (GRCm39)	A28V	probably benign	Het
Ccdc113	A	G	8: 96,263,101 (GRCm39)	N37S	probably damaging	Het
Cdh5	T	G	8: 104,867,337 (GRCm39)	V538G	probably damaging	Het
Cfap43	T	C	19: 47,726,293 (GRCm39)	E1639G	possibly damaging	Het
Clca3a2	C	T	3: 144,796,599 (GRCm39)	V203I	probably benign	Het
Clstn2	A	G	9: 97,414,815 (GRCm39)	F360L	probably damaging	Het
Cnst	GTGACACGCTTG	GTG	1: 179,407,039 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,260,058 (GRCm39)	Y234H	probably damaging	Het
Ddhd2	T	C	8: 26,244,495 (GRCm39)	S44G	probably benign	Het
Dync2i2	G	T	2: 29,922,211 (GRCm39)	H417N	probably benign	Het
Farp1	A	G	14: 121,492,988 (GRCm39)	E530G	probably damaging	Het
Fhad1	C	T	4: 141,646,058 (GRCm39)		probably null	Het
Foxj3	T	A	4: 119,477,538 (GRCm39)	C449*	probably null	Het
Fsbp	G	C	4: 11,584,005 (GRCm39)	V235L	probably benign	Het
Fuom	T	C	7: 139,681,252 (GRCm39)	E73G	probably benign	Het
Gm5134	A	G	10: 75,844,645 (GRCm39)	H667R	probably damaging	Het
Igsf21	A	G	4: 139,756,028 (GRCm39)	I361T	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kmt2d	A	T	15: 98,749,896 (GRCm39)	V2599E	unknown	Het
Lama1	T	A	17: 68,111,514 (GRCm39)	M2255K		Het
Litafd	C	A	16: 8,501,647 (GRCm39)	P50T		Het
Lrrc32	A	G	7: 98,148,234 (GRCm39)	H338R	probably benign	Het
Map1b	C	A	13: 99,571,914 (GRCm39)	R269L	probably damaging	Het
Ms4a5	T	A	19: 11,256,733 (GRCm39)	I55F	probably damaging	Het
Muc5b	G	C	7: 141,411,939 (GRCm39)	L1628F	unknown	Het
Myo6	A	G	9: 80,195,384 (GRCm39)	Q918R	unknown	Het
Or1e25	T	A	11: 73,493,877 (GRCm39)	M157K	probably benign	Het
Or2t48	A	G	11: 58,420,161 (GRCm39)	V217A	possibly damaging	Het
Or5m11b	T	A	2: 85,805,884 (GRCm39)	I99N	possibly damaging	Het
Or9i1b	T	G	19: 13,896,967 (GRCm39)	N194K	probably benign	Het
Pals2	A	G	6: 50,157,219 (GRCm39)	R296G	probably damaging	Het
Plin5	A	G	17: 56,419,462 (GRCm39)	V320A	probably damaging	Het
Ptx4	A	T	17: 25,342,257 (GRCm39)	Q244L	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,495 (GRCm39)	T535A	probably benign	Het
Ranbp2	T	C	10: 58,313,117 (GRCm39)	F1279S	probably damaging	Het
Rgl1	T	C	1: 152,428,362 (GRCm39)	H254R	probably damaging	Het
Rida	C	T	15: 34,487,909 (GRCm39)	A69T	probably damaging	Het
Scn2a	T	C	2: 65,511,346 (GRCm39)	F131L	probably benign	Het
Septin1	T	C	7: 126,816,092 (GRCm39)	I141V	probably benign	Het
Slc10a6	A	G	5: 103,765,571 (GRCm39)	S171P	probably damaging	Het
Slc18a1	A	G	8: 69,519,790 (GRCm39)		probably null	Het
Slc38a6	T	C	12: 73,388,526 (GRCm39)	S247P	possibly damaging	Het
Tet2	A	T	3: 133,187,147 (GRCm39)	I1094K	possibly damaging	Het
Tmem234	C	T	4: 129,501,333 (GRCm39)	S138L	probably benign	Het
Trpv1	T	A	11: 73,145,148 (GRCm39)		probably null	Het
Vmn2r60	T	A	7: 41,844,935 (GRCm39)	M766K	probably damaging	Het
Vmn2r84	T	C	10: 130,226,843 (GRCm39)	N332D	probably benign	Het
Zfp292	A	T	4: 34,819,563 (GRCm39)	I258N	probably damaging	Het
Zxdc	A	G	6: 90,375,773 (GRCm39)	K750E	probably damaging	Het

Other mutations in Bbs12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCTAGGACATTCATTCAACAACATG -3'
(R):5'- AGAATGGCAGTTATTGATAGACATC -3'

Sequencing Primer
(F):5'- GTACAAAATGCCATTGACTCTGG -3'
(R):5'- TTATAGCTCCAGGGGATCCAATC -3'

Posted On

2022-02-07