Mutagenetix > Incidental Mutation

Incidental Mutation 'R4982:Bbs2'

384922

Institutional Source

Beutler Lab

Gene Symbol

Bbs2

Ensembl Gene

ENSMUSG00000031755

Gene Name

Bardet-Biedl syndrome 2

Synonyms

2410125H22Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.744) question?

Stock #

R4982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94794582-94825556 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 94808982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034206 (fasta)

Gene Model

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

AlphaFold

Q9CWF6

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000172347

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,348 (GRCm39)	I1404L	possibly damaging	Het
Adra1b	A	G	11: 43,726,057 (GRCm39)	S287P	probably damaging	Het
Atxn2	G	T	5: 121,952,406 (GRCm39)	A1280S	possibly damaging	Het
Bbip1	T	C	19: 53,920,639 (GRCm39)		probably null	Het
Bcl11b	A	T	12: 107,932,031 (GRCm39)	C180*	probably null	Het
Bltp3a	T	C	17: 28,105,580 (GRCm39)	F702S	probably benign	Het
Bod1l	A	G	5: 41,977,816 (GRCm39)	V1166A	probably benign	Het
Bora	C	T	14: 99,284,788 (GRCm39)	P13S	probably damaging	Het
C2cd4c	T	C	10: 79,449,075 (GRCm39)	E24G	probably benign	Het
Ccne1	A	T	7: 37,799,996 (GRCm39)	I196N	probably damaging	Het
Chsy3	C	T	18: 59,542,647 (GRCm39)	S595L	probably benign	Het
Chsy3	T	A	18: 59,542,839 (GRCm39)	I659N	possibly damaging	Het
Cntrob	T	A	11: 69,202,188 (GRCm39)		probably null	Het
Col5a2	G	A	1: 45,428,618 (GRCm39)	P983S	possibly damaging	Het
Crat	T	A	2: 30,297,148 (GRCm39)		probably null	Het
Ctnnbl1	C	T	2: 157,678,473 (GRCm39)	H359Y	probably benign	Het
D430041D05Rik	A	G	2: 104,085,732 (GRCm39)	V83A	possibly damaging	Het
Dixdc1	A	G	9: 50,593,902 (GRCm39)	S488P	possibly damaging	Het
Dmrta1	T	C	4: 89,576,801 (GRCm39)	C86R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Fam171a1	G	A	2: 3,179,505 (GRCm39)		probably null	Het
Fam222b	T	C	11: 78,045,569 (GRCm39)	C249R	probably damaging	Het
Fbxw18	T	A	9: 109,531,719 (GRCm39)		probably benign	Het
Fes	T	C	7: 80,036,952 (GRCm39)	Y44C	probably damaging	Het
Gimap6	A	G	6: 48,684,933 (GRCm39)	V51A	probably benign	Het
Gpr75	C	T	11: 30,841,463 (GRCm39)	L123F	possibly damaging	Het
Gpr75	C	A	11: 30,841,462 (GRCm39)	H122Q	probably damaging	Het
Greb1	A	G	12: 16,774,762 (GRCm39)	S212P	probably damaging	Het
Grin3a	T	C	4: 49,665,512 (GRCm39)	H1041R	probably benign	Het
Ifna5	A	G	4: 88,753,861 (GRCm39)	N34D	probably damaging	Het
Ift140	A	T	17: 25,255,968 (GRCm39)	H221L	probably damaging	Het
Igsf3	T	C	3: 101,342,983 (GRCm39)	V540A	probably benign	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Klra2	A	T	6: 131,197,152 (GRCm39)	D282E	probably benign	Het
Lyst	T	A	13: 13,900,539 (GRCm39)	H3138Q	probably damaging	Het
Malrd1	A	G	2: 16,046,940 (GRCm39)	T1689A	probably benign	Het
Mon2	A	T	10: 122,831,694 (GRCm39)	L1671M	probably damaging	Het
Mpped1	T	C	15: 83,720,528 (GRCm39)	F71S	probably damaging	Het
Mtpap	C	A	18: 4,396,332 (GRCm39)	H541Q	probably benign	Het
Muc5ac	T	A	7: 141,363,193 (GRCm39)		probably benign	Het
Mybbp1a	T	C	11: 72,336,040 (GRCm39)	I451T	probably damaging	Het
Myh7	T	A	14: 55,210,224 (GRCm39)	E1827V	probably damaging	Het
Or1j14	A	T	2: 36,417,409 (GRCm39)		probably null	Het
Or2h15	A	T	17: 38,441,468 (GRCm39)	I205N	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,855 (GRCm39)	Y197*	probably null	Het
Or8b8	C	A	9: 37,808,811 (GRCm39)	T37N	probably damaging	Het
Os9	C	T	10: 126,956,920 (GRCm39)	R23H	possibly damaging	Het
Otud6b	A	G	4: 14,815,607 (GRCm39)	L261P	probably damaging	Het
Pcdhga2	A	G	18: 37,802,476 (GRCm39)	N107D	probably benign	Het
Pclo	C	T	5: 14,729,308 (GRCm39)		probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phtf1	T	A	3: 103,906,024 (GRCm39)	S524T	probably damaging	Het
Pkdrej	A	C	15: 85,703,197 (GRCm39)	L913R	probably damaging	Het
Pld1	C	A	3: 28,085,447 (GRCm39)	A201D	probably damaging	Het
Rorb	T	A	19: 18,955,052 (GRCm39)	Q103L	probably benign	Het
Sec24d	C	T	3: 123,093,255 (GRCm39)	T284M	probably benign	Het
Serpinb3b	T	C	1: 107,085,484 (GRCm39)	I86V	probably benign	Het
Serpinb6a	A	T	13: 34,102,857 (GRCm39)	M201K	probably damaging	Het
Snx8	A	G	5: 140,337,989 (GRCm39)	S219P	probably benign	Het
Sp8	C	T	12: 118,812,160 (GRCm39)	T5I	probably damaging	Het
Tanc1	A	G	2: 59,630,287 (GRCm39)	N749D	probably damaging	Het
Tarm1	G	C	7: 3,537,612 (GRCm39)	P284A	probably damaging	Het
Tbx15	A	T	3: 99,161,390 (GRCm39)	E65V	probably benign	Het
Ticam1	T	A	17: 56,579,020 (GRCm39)	H25L	probably benign	Het
Tmprss11g	T	A	5: 86,640,674 (GRCm39)	L170F	probably damaging	Het
Tnfsf9	A	G	17: 57,414,504 (GRCm39)	*310W	probably null	Het
Tsks	C	T	7: 44,593,418 (GRCm39)	T128I	possibly damaging	Het
Vmn1r175	A	T	7: 23,508,494 (GRCm39)	N44K	possibly damaging	Het
Vmn1r45	A	G	6: 89,910,847 (GRCm39)	I41T	probably damaging	Het
Ythdc2	A	G	18: 45,004,532 (GRCm39)	N1102S	probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
R4876:Bbs2	UTSW	8	94,796,788 (GRCm39)	unclassified	probably benign
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
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'- TTCATCTCAGCTGTGCCTGG -3'
(R):5'- AAGTGACTTTTATGCTGTGCC -3'

Sequencing Primer
(F):5'- AGCATAGCTAGCCACTTCTACTTCAG -3'
(R):5'- CTTCATTTTTAGGTTGATGCTCGCAG -3'

Posted On

2016-05-10