Mutagenetix > Incidental Mutation

Incidental Mutation 'R4876:Bbs2'

376876

Institutional Source

Beutler Lab

Gene Symbol

Bbs2

Ensembl Gene

ENSMUSG00000031755

Gene Name

Bardet-Biedl syndrome 2

Synonyms

2410125H22Rik

MMRRC Submission

042485-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.674) question?

Stock #

R4876 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

94794582-94825556 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 94796788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034206] [ENSMUST00000060632] [ENSMUST00000093301] [ENSMUST00000109556]

AlphaFold

Q9CWF6

Predicted Effect

probably benign
Transcript: ENSMUST00000034206

SMART Domains

Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755

Domain	Start	End	E-Value	Type
Pfam:BBS2_N	20	161	1.4e-62	PFAM
Pfam:BBS2_Mid	162	272	6.9e-50	PFAM
Pfam:BBS2_C	276	715	2.6e-193	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060632

SMART Domains

Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009

Domain	Start	End	E-Value	Type
P4Hc	46	223	4.87e-26	SMART
Pfam:Ofd1_CTDD	246	513	1.4e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093301

SMART Domains

Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009

Domain	Start	End	E-Value	Type
P4Hc	61	228	2.6e-12	SMART
low complexity region	328	353	N/A	INTRINSIC
low complexity region	375	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109556

SMART Domains

Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009

Domain	Start	End	E-Value	Type
P4Hc	61	238	4.87e-26	SMART
Pfam:Ofd1_CTDD	261	528	7.2e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172347

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

99% (97/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous null mice display obesity associated with polyphagia, retinopathy associated with mislocalization of rhodopsin, cilia defects, renal cysts, male sterility, abnormal brain neuroanatomy, reduced salivation and acoustic startle response, an olfactory deficit and abnormal social interaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
A630001G21Rik	C	T	1: 85,646,761 (GRCm39)	V167M	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano4	A	G	10: 88,948,697 (GRCm39)	F138L	probably damaging	Het
Aoc1	T	C	6: 48,883,681 (GRCm39)	V519A	possibly damaging	Het
Arhgef37	A	T	18: 61,631,310 (GRCm39)	Y558*	probably null	Het
Atxn3	T	A	12: 101,914,638 (GRCm39)	S29C	probably damaging	Het
Bicral	A	T	17: 47,136,502 (GRCm39)	I236N	probably damaging	Het
Cabcoco1	A	G	10: 68,377,599 (GRCm39)	V30A	probably benign	Het
Cap2	A	G	13: 46,684,497 (GRCm39)	M1V	probably null	Het
Ccdc153	T	C	9: 44,152,305 (GRCm39)	M1T	probably null	Het
Ccnf	A	T	17: 24,449,311 (GRCm39)	V489D	probably damaging	Het
Cdin1	A	C	2: 115,500,539 (GRCm39)	H159P	probably damaging	Het
Cntnap3	T	C	13: 64,935,520 (GRCm39)	T448A	probably benign	Het
Cpa4	G	A	6: 30,590,814 (GRCm39)	D371N	probably benign	Het
Csl	T	A	10: 99,594,402 (GRCm39)	Y221F	possibly damaging	Het
Dalrd3	T	C	9: 108,448,635 (GRCm39)		probably benign	Het
Dennd4a	T	A	9: 64,803,872 (GRCm39)	N1070K	probably benign	Het
Dipk2a	C	T	9: 94,419,630 (GRCm39)	R100H	probably damaging	Het
Dmwd	A	T	7: 18,814,472 (GRCm39)	D374V	probably damaging	Het
Eea1	G	T	10: 95,831,475 (GRCm39)	A189S	probably benign	Het
Fasn	A	G	11: 120,703,138 (GRCm39)	V1629A	probably damaging	Het
Fcgbpl1	A	T	7: 27,842,225 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,990,471 (GRCm39)	D1075G	unknown	Het
Fsip2	A	G	2: 82,805,202 (GRCm39)	N507S	possibly damaging	Het
Gabra5	T	G	7: 57,063,413 (GRCm39)	E337A	probably damaging	Het
Gsg1l	A	G	7: 125,490,841 (GRCm39)	Y288H	probably benign	Het
H2-M11	A	T	17: 36,858,401 (GRCm39)	D65V	probably benign	Het
Hmgxb3	A	T	18: 61,279,606 (GRCm39)	C736S	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,960 (GRCm39)	I121N	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Il16	A	C	7: 83,322,302 (GRCm39)	S338A	probably benign	Het
Itpr1	G	A	6: 108,459,867 (GRCm39)	A2054T	probably damaging	Het
Lamp3	T	A	16: 19,474,220 (GRCm39)	I385F	probably damaging	Het
Limch1	G	A	5: 67,039,270 (GRCm39)	V66I	possibly damaging	Het
Lmod2	A	G	6: 24,604,278 (GRCm39)	R418G	probably benign	Het
Ly6g6c	A	T	17: 35,288,416 (GRCm39)	D96V	probably damaging	Het
Map2k2	G	A	10: 80,950,947 (GRCm39)	V131M	probably damaging	Het
Mapk9	T	C	11: 49,745,152 (GRCm39)	V22A	probably damaging	Het
Mettl2	T	C	11: 105,019,894 (GRCm39)	I177T	probably damaging	Het
Mob4	C	T	1: 55,191,995 (GRCm39)		probably benign	Het
Mybpc1	A	T	10: 88,372,286 (GRCm39)	N781K	probably benign	Het
Mybpc1	T	C	10: 88,358,853 (GRCm39)	I1113V	probably benign	Het
Myom1	A	G	17: 71,384,405 (GRCm39)	T707A	probably damaging	Het
Ncam2	G	A	16: 81,287,234 (GRCm39)	A383T	probably benign	Het
Nomo1	T	C	7: 45,715,915 (GRCm39)	S761P	probably damaging	Het
Nsd3	T	A	8: 26,181,161 (GRCm39)	S921T	possibly damaging	Het
Omp	A	T	7: 97,794,233 (GRCm39)	D131E	probably benign	Het
Or10d1c	A	T	9: 38,893,922 (GRCm39)	C139*	probably null	Het
Or4f7d-ps1	C	G	2: 111,675,040 (GRCm39)		noncoding transcript	Het
Or8d4	C	T	9: 40,038,514 (GRCm39)	V248I	probably damaging	Het
Pard3	T	C	8: 128,287,950 (GRCm39)		probably benign	Het
Parg	A	G	14: 31,993,625 (GRCm39)	T286A	probably damaging	Het
Parp1	T	A	1: 180,396,600 (GRCm39)	M1K	probably null	Het
Pclo	T	A	5: 14,861,694 (GRCm39)	S4882R	unknown	Het
Pcnx2	C	T	8: 126,498,847 (GRCm39)	E1551K	probably damaging	Het
Pcyox1l	A	G	18: 61,832,565 (GRCm39)	Y161H	probably damaging	Het
Pdzd8	A	T	19: 59,289,236 (GRCm39)	C721*	probably null	Het
Piwil4	T	C	9: 14,651,761 (GRCm39)	D90G	probably benign	Het
Plxdc2	T	A	2: 16,708,129 (GRCm39)	C306S	probably damaging	Het
Plxna2	T	A	1: 194,326,083 (GRCm39)	F6I	probably benign	Het
Prkaa1	T	C	15: 5,203,886 (GRCm39)	M265T	probably benign	Het
Prrc2b	T	C	2: 32,104,212 (GRCm39)	V1230A	probably benign	Het
Rfx2	T	C	17: 57,091,706 (GRCm39)	E329G	probably benign	Het
Scg2	T	C	1: 79,413,636 (GRCm39)	I322M	probably damaging	Het
Scly	T	A	1: 91,247,850 (GRCm39)	N399K	probably damaging	Het
Sec23b	T	A	2: 144,428,281 (GRCm39)		probably null	Het
Sephs2	A	T	7: 126,872,219 (GRCm39)	Y291*	probably null	Het
Slc45a3	T	C	1: 131,909,285 (GRCm39)	I494T	possibly damaging	Het
Slc6a21	C	A	7: 44,929,535 (GRCm39)	Y76*	probably null	Het
Slfn14	T	A	11: 83,167,098 (GRCm39)	I806L	possibly damaging	Het
Slfn4	T	A	11: 83,077,844 (GRCm39)	S211T	probably benign	Het
Sptbn4	A	G	7: 27,071,577 (GRCm39)	V1624A	probably damaging	Het
Sugp1	T	A	8: 70,523,834 (GRCm39)	M567K	probably damaging	Het
Tmem121	A	T	12: 113,152,348 (GRCm39)	M189L	probably benign	Het
Tmem201	A	G	4: 149,806,727 (GRCm39)	S444P	probably damaging	Het
Tmem63a	T	C	1: 180,800,751 (GRCm39)	V744A	probably benign	Het
Tnrc18	G	A	5: 142,717,380 (GRCm39)	S2358F	unknown	Het
Ubash3b	A	G	9: 40,929,405 (GRCm39)	V404A	probably benign	Het
Unc13c	A	T	9: 73,656,821 (GRCm39)	C1127S	probably damaging	Het
Unc5a	T	C	13: 55,145,042 (GRCm39)	V253A	probably benign	Het
Vmn1r-ps123	C	T	13: 23,180,535 (GRCm39)		noncoding transcript	Het
Wdr74	A	G	19: 8,716,849 (GRCm39)	E253G	possibly damaging	Het
Wwox	T	C	8: 115,174,988 (GRCm39)	Y107H	probably damaging	Het
Zdhhc22	A	T	12: 87,035,012 (GRCm39)	Y147N	probably damaging	Het
Zfp131	T	C	13: 120,250,491 (GRCm39)	H44R	possibly damaging	Het
Zfp235	A	G	7: 23,840,384 (GRCm39)	T268A	probably benign	Het
Zfp280d	T	C	9: 72,206,140 (GRCm39)		probably benign	Het
Zfp358	T	C	8: 3,546,170 (GRCm39)	S251P	probably damaging	Het

Other mutations in Bbs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Bbs2	APN	8	94,815,795 (GRCm39)	critical splice acceptor site	probably null
IGL02250:Bbs2	APN	8	94,819,054 (GRCm39)	missense	probably benign	0.22
IGL02427:Bbs2	APN	8	94,807,746 (GRCm39)	missense	possibly damaging	0.92
IGL02810:Bbs2	APN	8	94,813,539 (GRCm39)	missense	probably benign	0.00
IGL02850:Bbs2	APN	8	94,803,710 (GRCm39)	missense	probably benign
IGL03050:Bbs2	APN	8	94,801,041 (GRCm39)	splice site	probably benign
IGL03292:Bbs2	APN	8	94,801,749 (GRCm39)	critical splice donor site	probably null
Gosling	UTSW	8	94,809,118 (GRCm39)	missense	possibly damaging	0.95
rolie	UTSW	8	94,808,992 (GRCm39)	missense	probably damaging	0.96
BB007:Bbs2	UTSW	8	94,796,625 (GRCm39)	missense	probably damaging	1.00
BB017:Bbs2	UTSW	8	94,796,625 (GRCm39)	missense	probably damaging	1.00
R0755:Bbs2	UTSW	8	94,808,708 (GRCm39)	missense	probably benign	0.22
R0835:Bbs2	UTSW	8	94,801,887 (GRCm39)	missense	probably damaging	1.00
R1404:Bbs2	UTSW	8	94,808,627 (GRCm39)	missense	probably null	0.01
R1404:Bbs2	UTSW	8	94,808,627 (GRCm39)	missense	probably null	0.01
R1513:Bbs2	UTSW	8	94,816,472 (GRCm39)	missense	possibly damaging	0.94
R1972:Bbs2	UTSW	8	94,807,805 (GRCm39)	splice site	probably benign
R4648:Bbs2	UTSW	8	94,807,507 (GRCm39)	missense	probably damaging	1.00
R4911:Bbs2	UTSW	8	94,815,743 (GRCm39)	missense	probably damaging	1.00
R4966:Bbs2	UTSW	8	94,807,435 (GRCm39)	missense	probably damaging	1.00
R4982:Bbs2	UTSW	8	94,808,982 (GRCm39)	critical splice donor site	probably null
R5202:Bbs2	UTSW	8	94,819,042 (GRCm39)	nonsense	probably null
R5347:Bbs2	UTSW	8	94,819,178 (GRCm39)	missense	probably damaging	0.98
R5364:Bbs2	UTSW	8	94,801,023 (GRCm39)	missense	probably benign	0.00
R5538:Bbs2	UTSW	8	94,816,391 (GRCm39)	missense	probably damaging	1.00
R5685:Bbs2	UTSW	8	94,814,061 (GRCm39)	missense	probably damaging	1.00
R5918:Bbs2	UTSW	8	94,824,931 (GRCm39)	missense	probably damaging	0.98
R5963:Bbs2	UTSW	8	94,807,659 (GRCm39)	missense	probably benign	0.02
R5964:Bbs2	UTSW	8	94,794,995 (GRCm39)	missense	probably benign	0.18
R5991:Bbs2	UTSW	8	94,824,914 (GRCm39)	missense	probably benign	0.24
R6050:Bbs2	UTSW	8	94,819,160 (GRCm39)	missense	probably damaging	1.00
R6172:Bbs2	UTSW	8	94,814,039 (GRCm39)	missense	probably benign	0.02
R6241:Bbs2	UTSW	8	94,824,863 (GRCm39)	critical splice donor site	probably null
R6578:Bbs2	UTSW	8	94,803,669 (GRCm39)	missense	probably null	0.00
R7330:Bbs2	UTSW	8	94,814,033 (GRCm39)	missense	possibly damaging	0.78
R7404:Bbs2	UTSW	8	94,808,992 (GRCm39)	missense	probably damaging	0.96
R7775:Bbs2	UTSW	8	94,816,388 (GRCm39)	critical splice donor site	probably null
R7778:Bbs2	UTSW	8	94,816,388 (GRCm39)	critical splice donor site	probably null
R7824:Bbs2	UTSW	8	94,816,388 (GRCm39)	critical splice donor site	probably null
R7895:Bbs2	UTSW	8	94,807,764 (GRCm39)	missense	probably damaging	1.00
R7930:Bbs2	UTSW	8	94,796,625 (GRCm39)	missense	probably damaging	1.00
R8004:Bbs2	UTSW	8	94,809,118 (GRCm39)	missense	possibly damaging	0.95
R8084:Bbs2	UTSW	8	94,814,056 (GRCm39)	missense	probably damaging	1.00
R8305:Bbs2	UTSW	8	94,800,953 (GRCm39)	missense	probably damaging	1.00
R8545:Bbs2	UTSW	8	94,813,352 (GRCm39)	missense	probably benign
R9262:Bbs2	UTSW	8	94,807,543 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATTGCTTGGTTCACCGC -3'
(R):5'- ACAGACCAGTTCAGAGCTTAAG -3'

Sequencing Primer
(F):5'- GCCTTCAGGTTTCCTAGCAG -3'
(R):5'- TAAAAATGTGCCTGCCTGCC -3'

Posted On

2016-03-17