Mutagenetix > Incidental Mutation

Incidental Mutation 'R0755:Bbs2'

70432

Institutional Source

Beutler Lab

Gene Symbol

Bbs2

Ensembl Gene

ENSMUSG00000031755

Gene Name

Bardet-Biedl syndrome 2

Synonyms

2410125H22Rik

MMRRC Submission

038935-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.744) question?

Stock #

R0755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94794582-94825556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94808708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 333 (V333G)

Ref Sequence

ENSEMBL: ENSMUSP00000034206 (fasta)

Gene Model

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

AlphaFold

Q9CWF6

Predicted Effect

probably benign
Transcript: ENSMUST00000034206
AA Change: V333G

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755
AA Change: V333G

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: 98.6%
10x: 97.1%
20x: 93.8%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,638 (GRCm39)		probably benign	Het
Acin1	A	G	14: 54,889,292 (GRCm39)	M1T	probably null	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Aldh1a1	A	G	19: 20,595,358 (GRCm39)	M96V	probably benign	Het
Ankfn1	T	A	11: 89,282,913 (GRCm39)	M245L	probably benign	Het
Arhgap19	T	C	19: 41,769,614 (GRCm39)	K54E	probably damaging	Het
Atp1a2	T	C	1: 172,116,948 (GRCm39)	Q223R	probably benign	Het
Atp8a2	C	T	14: 60,247,330 (GRCm39)	V557I	possibly damaging	Het
AU041133	A	T	10: 81,986,724 (GRCm39)	K126*	probably null	Het
Axin1	T	A	17: 26,401,480 (GRCm39)	Y351N	possibly damaging	Het
Baiap2l1	T	C	5: 144,221,367 (GRCm39)	K176E	probably damaging	Het
Baz2a	C	T	10: 127,955,560 (GRCm39)	T848I	possibly damaging	Het
BC051019	G	A	7: 109,315,302 (GRCm39)	Q318*	probably null	Het
Bltp1	T	C	3: 37,000,513 (GRCm39)	S1231P	probably damaging	Het
Cdc37	C	T	9: 21,051,160 (GRCm39)	D362N	probably damaging	Het
Cep170	A	T	1: 176,583,319 (GRCm39)	V1020E	probably damaging	Het
Chrm4	T	C	2: 91,758,747 (GRCm39)	V385A	probably benign	Het
Cntrl	G	A	2: 35,035,151 (GRCm39)	S373N	probably damaging	Het
Col23a1	G	A	11: 51,467,706 (GRCm39)	G19D	probably damaging	Het
Cyb5r4	G	T	9: 86,911,625 (GRCm39)	A100S	probably damaging	Het
Dctn1	C	T	6: 83,166,059 (GRCm39)	P115S	probably damaging	Het
Dhrs2	C	T	14: 55,472,247 (GRCm39)	T46M	probably damaging	Het
Disp2	T	C	2: 118,620,243 (GRCm39)	F325S	probably benign	Het
Dnah11	T	G	12: 117,918,564 (GRCm39)	T3456P	possibly damaging	Het
Dnah11	C	A	12: 118,162,360 (GRCm39)	V70F	probably benign	Het
Duoxa1	T	A	2: 122,135,161 (GRCm39)	T195S	probably benign	Het
Dync2i1	T	C	12: 116,175,412 (GRCm39)	I922V	probably benign	Het
Eif2ak1	T	A	5: 143,821,742 (GRCm39)	F353I	possibly damaging	Het
Esam	A	G	9: 37,447,998 (GRCm39)	T211A	probably damaging	Het
Faf1	A	G	4: 109,819,036 (GRCm39)	N636S	probably benign	Het
Fbxo25	A	G	8: 13,985,219 (GRCm39)	Y305C	probably benign	Het
Fchsd1	C	T	18: 38,101,803 (GRCm39)		probably null	Het
Fdxacb1	T	A	9: 50,683,025 (GRCm39)	D329E	possibly damaging	Het
Gvin2	A	T	7: 105,545,892 (GRCm39)	F2387I	possibly damaging	Het
Hbq1b	A	T	11: 32,237,104 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,343,172 (GRCm39)	V4566E	probably damaging	Het
Igkv6-29	G	A	6: 70,116,053 (GRCm39)	T5I	probably benign	Het
Itfg1	A	T	8: 86,452,834 (GRCm39)	D511E	possibly damaging	Het
Jmjd1c	C	T	10: 66,932,378 (GRCm39)		probably benign	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Kdm4d	T	A	9: 14,375,591 (GRCm39)	K89M	probably damaging	Het
Krt19	A	T	11: 100,032,965 (GRCm39)	D194E	possibly damaging	Het
Lamc1	A	T	1: 153,123,196 (GRCm39)	Y665N	possibly damaging	Het
Lct	A	T	1: 128,221,872 (GRCm39)	S1556T	possibly damaging	Het
Macf1	A	G	4: 123,263,719 (GRCm39)	L4924P	probably damaging	Het
Mef2c	G	A	13: 83,804,472 (GRCm39)		probably null	Het
Mff	G	A	1: 82,728,326 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,412,230 (GRCm39)	L2581Q	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nos3	T	A	5: 24,572,295 (GRCm39)	L123M	probably damaging	Het
Ntn5	C	T	7: 45,335,952 (GRCm39)	P128S	probably benign	Het
Nudt9	T	C	5: 104,212,920 (GRCm39)	V331A	probably damaging	Het
Or2y3	A	T	17: 38,393,085 (GRCm39)	Y261*	probably null	Het
Or7g34	T	C	9: 19,478,415 (GRCm39)	I88M	possibly damaging	Het
Pcdh7	A	T	5: 57,877,664 (GRCm39)	K406N	possibly damaging	Het
Pkdrej	T	A	15: 85,700,336 (GRCm39)	I1867L	probably benign	Het
Plppr4	C	T	3: 117,116,319 (GRCm39)	G455R	possibly damaging	Het
Pramel11	A	G	4: 143,624,299 (GRCm39)	V66A	probably damaging	Het
Prkag2	G	C	5: 25,152,629 (GRCm39)	S158R	probably benign	Het
Ptprq	T	G	10: 107,418,400 (GRCm39)	T1659P	probably benign	Het
Rasl12	A	G	9: 65,318,241 (GRCm39)	K202E	probably benign	Het
Rb1	A	C	14: 73,434,653 (GRCm39)	*922G	probably null	Het
Rsf1	C	T	7: 97,229,174 (GRCm39)	P22S	probably damaging	Het
Scn1a	T	G	2: 66,151,379 (GRCm39)	T797P	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc22a7	T	G	17: 46,749,113 (GRCm39)	H68P	possibly damaging	Het
Slc4a2	G	A	5: 24,640,575 (GRCm39)	A652T	probably benign	Het
Slc5a1	T	A	5: 33,290,733 (GRCm39)	L106M	probably benign	Het
Slco1c1	C	T	6: 141,477,258 (GRCm39)	P19S	probably damaging	Het
Snx1	A	G	9: 66,005,738 (GRCm39)	F127S	probably damaging	Het
Snx31	A	T	15: 36,534,576 (GRCm39)	I199N	probably damaging	Het
Snx33	T	C	9: 56,832,741 (GRCm39)	I443V	possibly damaging	Het
Sptbn1	A	G	11: 30,089,016 (GRCm39)	F749L	probably damaging	Het
Stoml3	T	A	3: 53,405,559 (GRCm39)	Y53*	probably null	Het
Stxbp2	A	G	8: 3,692,019 (GRCm39)	T554A	probably benign	Het
Tal1	T	C	4: 114,925,573 (GRCm39)	I214T	probably damaging	Het
Tas2r140	T	A	6: 40,468,344 (GRCm39)	I58N	probably damaging	Het
Thap1	A	G	8: 26,648,501 (GRCm39)	Y8C	probably damaging	Het
Thsd7a	A	T	6: 12,555,368 (GRCm39)	L172Q	probably damaging	Het
Ube3c	T	A	5: 29,842,740 (GRCm39)	D735E	probably damaging	Het
Unc80	G	A	1: 66,544,082 (GRCm39)	D402N	probably damaging	Het
Upf1	G	T	8: 70,786,779 (GRCm39)	R902S	probably benign	Het
Urb1	A	G	16: 90,570,982 (GRCm39)	Y1276H	probably damaging	Het
Urb1	A	T	16: 90,576,026 (GRCm39)	F843L	probably benign	Het
Vmn1r198	C	T	13: 22,539,402 (GRCm39)	T296I	probably benign	Het
Vmn1r33	A	T	6: 66,588,892 (GRCm39)	S221T	probably damaging	Het
Vmn2r103	A	G	17: 19,993,830 (GRCm39)	D69G	probably benign	Het
Vmn2r14	T	G	5: 109,364,226 (GRCm39)	L563F	possibly damaging	Het
Vmn2r60	G	A	7: 41,844,869 (GRCm39)	G744D	probably damaging	Het
Vstm4	T	C	14: 32,614,601 (GRCm39)	V181A	probably damaging	Het
Wdr72	G	A	9: 74,052,376 (GRCm39)	V136I	probably benign	Het
Zfp236	T	A	18: 82,638,457 (GRCm39)	N1388Y	probably damaging	Het
Zfp53	T	A	17: 21,728,839 (GRCm39)	F291I	probably damaging	Het
Zfp944	A	T	17: 22,558,889 (GRCm39)	H119Q	possibly 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
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
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'- CCCACCAAGTCTAACTTCATGGCTC -3'
(R):5'- GCCACGTACAGTTAATCTGCTGCTC -3'

Sequencing Primer
(F):5'- ATGGCTCTTCATTCCAGCAGTAG -3'
(R):5'- AAATGCCTGAAAATGAATTCTGC -3'

Posted On

2013-09-30