Mutagenetix > Incidental Mutation

Incidental Mutation 'R7404:Bbs2'

574428

Institutional Source

Beutler Lab

Gene Symbol

Bbs2

Ensembl Gene

ENSMUSG00000031755

Gene Name

Bardet-Biedl syndrome 2

Synonyms

2410125H22Rik

MMRRC Submission

045486-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.674) question?

Stock #

R7404 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94794582-94825556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94808992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 311 (D311G)

Ref Sequence

ENSEMBL: ENSMUSP00000034206 (fasta)

Gene Model

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

AlphaFold

Q9CWF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034206
AA Change: D311G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755
AA Change: D311G

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

Meta Mutation Damage Score

0.4589

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (92/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	C	T	18: 61,955,099 (GRCm39)	A297T	probably damaging	Het
Adprhl1	T	A	8: 13,275,118 (GRCm39)	S547C	probably damaging	Het
Ankrd63	G	C	2: 118,533,793 (GRCm39)	R43G	unknown	Het
Asah2	T	C	19: 32,035,254 (GRCm39)	T24A	probably benign	Het
Asb17	G	A	3: 153,550,447 (GRCm39)		probably null	Het
Atp8b5	C	T	4: 43,342,640 (GRCm39)	T437I	probably benign	Het
Birc6	C	T	17: 74,946,789 (GRCm39)	T2851I	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cchcr1	T	C	17: 35,835,693 (GRCm39)	W266R	probably benign	Het
Col14a1	C	A	15: 55,252,024 (GRCm39)	S560*	probably null	Het
Crocc	G	A	4: 140,753,497 (GRCm39)	T1317M	possibly damaging	Het
Cxxc1	T	A	18: 74,352,278 (GRCm39)	V334E	possibly damaging	Het
Cyp3a25	T	A	5: 145,923,635 (GRCm39)	D336V	probably damaging	Het
Dapk1	A	G	13: 60,867,455 (GRCm39)	T221A	probably benign	Het
Dnah11	G	T	12: 118,068,543 (GRCm39)	T1605K	probably benign	Het
Dnah7c	T	C	1: 46,705,223 (GRCm39)	V2412A	possibly damaging	Het
Ect2l	T	A	10: 18,035,529 (GRCm39)	D524V	probably damaging	Het
Ehbp1l1	T	C	19: 5,770,872 (GRCm39)	E223G	possibly damaging	Het
Ephb2	A	T	4: 136,498,524 (GRCm39)	M185K	probably damaging	Het
Fcer1a	T	C	1: 173,049,083 (GRCm39)	K243E	probably damaging	Het
Fcgbp	T	A	7: 27,800,932 (GRCm39)	I1326N	probably damaging	Het
Fgfr1	T	C	8: 26,045,566 (GRCm39)	V45A	probably benign	Het
Filip1	T	A	9: 79,727,380 (GRCm39)	E413V	possibly damaging	Het
Frs3	T	C	17: 48,013,651 (GRCm39)		probably null	Het
Fstl4	A	G	11: 53,024,898 (GRCm39)	T257A	probably benign	Het
Golga5	A	T	12: 102,450,778 (GRCm39)	K477M	probably damaging	Het
Gpr171	A	T	3: 59,005,622 (GRCm39)	I51K	probably damaging	Het
H1f0	T	A	15: 78,913,080 (GRCm39)	Y53*	probably null	Het
Hephl1	A	G	9: 14,981,047 (GRCm39)	V795A	possibly damaging	Het
Hmcn1	A	T	1: 150,596,510 (GRCm39)	D1775E	probably benign	Het
Hs3st2	A	G	7: 121,100,168 (GRCm39)	D338G	possibly damaging	Het
Hsd3b6	T	A	3: 98,713,534 (GRCm39)	Y255F	probably benign	Het
Hspa9	T	C	18: 35,076,329 (GRCm39)	N328D	possibly damaging	Het
Hvcn1	T	A	5: 122,375,748 (GRCm39)	I100N	probably damaging	Het
Ifi207	C	T	1: 173,556,494 (GRCm39)	S748N	possibly damaging	Het
Katnip	A	T	7: 125,464,434 (GRCm39)	N1267I	probably damaging	Het
Kcnma1	G	T	14: 24,052,902 (GRCm39)	T180K	unknown	Het
Kctd16	A	G	18: 40,391,826 (GRCm39)	D138G	probably damaging	Het
Kifc3	A	G	8: 95,830,092 (GRCm39)	Y605H	probably benign	Het
Kmt2d	T	A	15: 98,743,376 (GRCm39)	Q3928L	unknown	Het
Lamb2	C	T	9: 108,364,782 (GRCm39)	R1179C	probably damaging	Het
Layn	T	A	9: 50,968,670 (GRCm39)	I358F	possibly damaging	Het
Lrig1	G	A	6: 94,603,452 (GRCm39)	T232M	probably damaging	Het
Lrp1	T	C	10: 127,418,577 (GRCm39)	T38A		Het
Map3k14	A	G	11: 103,129,918 (GRCm39)	V333A	probably benign	Het
Med13	T	C	11: 86,177,272 (GRCm39)	D1608G	possibly damaging	Het
Mrps31	T	G	8: 22,911,429 (GRCm39)	S224A	probably benign	Het
Msh6	G	T	17: 88,282,548 (GRCm39)			Het
Ncapd3	A	G	9: 26,978,315 (GRCm39)	D838G	probably benign	Het
Nlrp1a	C	A	11: 70,987,919 (GRCm39)	E1184*	probably null	Het
Npat	T	A	9: 53,466,233 (GRCm39)		probably null	Het
Nup210	A	T	6: 91,050,227 (GRCm39)	I414N	probably benign	Het
Or1e19	A	T	11: 73,316,419 (GRCm39)	L130H	probably damaging	Het
Or52n2	A	T	7: 104,542,181 (GRCm39)	V218E	possibly damaging	Het
Or5b122	T	A	19: 13,562,752 (GRCm39)	I28N	possibly damaging	Het
Or5h19	T	C	16: 58,856,603 (GRCm39)	T166A	possibly damaging	Het
Or6z5	T	C	7: 6,477,163 (GRCm39)	L18P	probably damaging	Het
Or8b12c	A	T	9: 37,715,257 (GRCm39)	T17S	possibly damaging	Het
Or8h7	A	C	2: 86,721,217 (GRCm39)	L101V	probably benign	Het
Otud7b	G	C	3: 96,043,936 (GRCm39)		probably null	Het
Phf11d	A	C	14: 59,596,942 (GRCm39)	W86G	probably benign	Het
Pik3c2b	T	A	1: 133,018,444 (GRCm39)	S964T	probably damaging	Het
Pira1	T	C	7: 3,742,344 (GRCm39)	Y61C	probably damaging	Het
Plod3	G	A	5: 137,023,901 (GRCm39)	V687I	probably benign	Het
Poglut1	T	G	16: 38,358,284 (GRCm39)	Y208S	possibly damaging	Het
Pou1f1	T	A	16: 65,330,749 (GRCm39)	L253H	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Rhbdl3	C	T	11: 80,237,659 (GRCm39)	S297L	probably damaging	Het
Rxra	A	T	2: 27,631,866 (GRCm39)	N179I	probably damaging	Het
Ryr2	C	T	13: 11,750,506 (GRCm39)	E1922K	probably damaging	Het
Scube1	T	C	15: 83,499,211 (GRCm39)	Y668C	probably damaging	Het
Sec16b	A	G	1: 157,358,927 (GRCm39)	Y120C	probably damaging	Het
Sec61b	G	T	4: 47,483,047 (GRCm39)	K92N	probably damaging	Het
Skic3	T	A	13: 76,296,866 (GRCm39)	Y1074*	probably null	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc17a7	T	A	7: 44,822,354 (GRCm39)	Y397N	probably benign	Het
Slc25a3	A	G	10: 90,952,902 (GRCm39)	V333A	possibly damaging	Het
Slc7a8	A	T	14: 54,964,283 (GRCm39)	V390E	probably damaging	Het
Sorbs2	G	A	8: 46,212,233 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,621,650 (GRCm39)	N948D	probably benign	Het
Tacc2	A	T	7: 130,225,066 (GRCm39)	T584S	probably benign	Het
Tec	A	T	5: 72,920,961 (GRCm39)	D471E	probably damaging	Het
Tecpr2	C	T	12: 110,898,038 (GRCm39)	A430V	probably benign	Het
Tmcc2	A	T	1: 132,288,759 (GRCm39)	D309E	probably damaging	Het
Tmem82	G	A	4: 141,344,742 (GRCm39)	A67V	possibly damaging	Het
Ttc23l	T	C	15: 10,551,663 (GRCm39)	Q21R	probably damaging	Het
Ubl3	A	G	5: 148,448,764 (GRCm39)	F26L	probably damaging	Het
Upf2	A	G	2: 6,045,014 (GRCm39)	E1088G	unknown	Het
Usp9y	T	A	Y: 1,341,780 (GRCm39)	I1362F	probably benign	Het
Wnk4	T	A	11: 101,159,318 (GRCm39)		probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfc3h1	T	A	10: 115,251,153 (GRCm39)	V1248D	probably damaging	Het
Zfp12	T	A	5: 143,226,099 (GRCm39)	V56D	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
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
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'- ACCCTAAGCATAGCTAGCCA -3'
(R):5'- AAAGCTTTTGTTGCCATTGTTTT -3'

Sequencing Primer
(F):5'- TTCAGACCATCAATGACCTGG -3'
(R):5'- CCATTGTTTTTAGCTGTGGTGTAAG -3'

Posted On

2019-09-13