Mutagenetix > Incidental Mutation

Incidental Mutation 'R5364:Bbs2'

423020

Institutional Source

Beutler Lab

Gene Symbol

Bbs2

Ensembl Gene

ENSMUSG00000031755

Gene Name

Bardet-Biedl syndrome 2

Synonyms

2410125H22Rik

MMRRC Submission

042942-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.674) question?

Stock #

R5364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94794582-94825556 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94801023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 603 (Y603H)

Ref Sequence

ENSEMBL: ENSMUSP00000034206 (fasta)

Gene Model

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

AlphaFold

Q9CWF6

Predicted Effect

probably benign
Transcript: ENSMUST00000034206
AA Change: Y603H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755
AA Change: Y603H

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: ENSMUST00000170208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172347

Meta Mutation Damage Score

0.0724

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.3%

Validation Efficiency

100% (102/102)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
Abcc10	G	A	17: 46,616,577 (GRCm39)	R1205C	probably benign	Het
Acer1	A	G	17: 57,289,000 (GRCm39)	F37L	probably damaging	Het
Acp7	C	A	7: 28,310,448 (GRCm39)	G463V	probably benign	Het
Actr2	A	T	11: 20,050,797 (GRCm39)		probably benign	Het
Adam15	A	T	3: 89,252,902 (GRCm39)	I272K	probably damaging	Het
Adam1b	T	A	5: 121,638,946 (GRCm39)	I700F	possibly damaging	Het
Adam33	A	G	2: 130,896,392 (GRCm39)		probably null	Het
Ano1	T	C	7: 144,190,941 (GRCm39)	Y380C	probably damaging	Het
Arfgap3	A	C	15: 83,198,562 (GRCm39)	M307R	probably damaging	Het
Arhgap21	T	A	2: 20,854,533 (GRCm39)	R1610W	probably damaging	Het
Bbs9	G	T	9: 22,486,492 (GRCm39)		probably null	Het
Bcar3	A	C	3: 122,323,281 (GRCm39)	M779L	probably benign	Het
Bub3	A	T	7: 131,162,467 (GRCm39)	N10I	possibly damaging	Het
Cacna1c	T	G	6: 118,633,504 (GRCm39)	E1098D	probably benign	Het
Cacna1g	T	A	11: 94,307,684 (GRCm39)	M1738L	probably benign	Het
Camk2d	G	T	3: 126,574,069 (GRCm39)	G159C	probably damaging	Het
Ccdc51	A	T	9: 108,921,188 (GRCm39)	E358D	possibly damaging	Het
Cdc42bpa	A	G	1: 179,894,747 (GRCm39)	D309G	probably benign	Het
Cdhr3	A	T	12: 33,101,007 (GRCm39)	F468I	possibly damaging	Het
Chrd	A	G	16: 20,551,898 (GRCm39)	M1V	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dcdc2b	T	C	4: 129,502,963 (GRCm39)	Y253C	probably damaging	Het
Dclk1	A	C	3: 55,163,366 (GRCm39)	N153H	possibly damaging	Het
Dgkg	G	T	16: 22,419,211 (GRCm39)	S96R	probably benign	Het
Dnah9	A	G	11: 65,772,522 (GRCm39)	Y3737H	possibly damaging	Het
Elovl4	A	T	9: 83,672,076 (GRCm39)	I81N	probably benign	Het
Epha7	T	A	4: 28,950,557 (GRCm39)	Y791N	probably damaging	Het
Fam193a	C	A	5: 34,623,597 (GRCm39)	T1395N	probably benign	Het
Fbln5	A	T	12: 101,737,623 (GRCm39)	V141E	probably damaging	Het
Flii	T	C	11: 60,610,954 (GRCm39)	T492A	probably benign	Het
Fnip2	A	G	3: 79,388,475 (GRCm39)	I752T	probably benign	Het
Fpr3	T	C	17: 18,190,806 (GRCm39)	W26R	probably benign	Het
Gabrb1	A	T	5: 72,294,105 (GRCm39)	T460S	probably benign	Het
Gde1	T	C	7: 118,297,874 (GRCm39)	N4S	probably benign	Het
Ghitm	G	T	14: 36,847,156 (GRCm39)	T306K	probably benign	Het
Ghitm	A	T	14: 36,847,174 (GRCm39)	I300N	probably damaging	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Iqcd	T	C	5: 120,738,332 (GRCm39)	I50T	probably damaging	Het
Itpripl1	G	A	2: 126,983,739 (GRCm39)	P128S	possibly damaging	Het
Jag2	C	A	12: 112,874,154 (GRCm39)	L1000F	probably damaging	Het
Klhdc4	A	T	8: 122,533,375 (GRCm39)		probably benign	Het
Klra5	A	G	6: 129,876,316 (GRCm39)	F164L	probably benign	Het
Larp1b	A	G	3: 40,931,658 (GRCm39)	Y288C	probably damaging	Het
Lrfn3	T	A	7: 30,055,078 (GRCm39)	E622D	possibly damaging	Het
Lyst	A	G	13: 13,831,439 (GRCm39)	D1621G	probably benign	Het
Mastl	T	C	2: 23,023,665 (GRCm39)	T353A	probably benign	Het
Mkln1	T	C	6: 31,473,647 (GRCm39)	Y130H	probably damaging	Het
Mms22l	T	A	4: 24,496,882 (GRCm39)		probably benign	Het
Mroh7	T	A	4: 106,548,840 (GRCm39)	M1008L	probably benign	Het
Nipal1	T	C	5: 72,825,243 (GRCm39)	V312A	probably damaging	Het
Nlrp5	T	A	7: 23,117,753 (GRCm39)	Y492*	probably null	Het
Odad1	T	A	7: 45,585,756 (GRCm39)	I105N	probably damaging	Het
Or1n1	T	C	2: 36,750,006 (GRCm39)	Y118C	probably damaging	Het
Otulinl	G	A	15: 27,660,031 (GRCm39)	Q24*	probably null	Het
Pcdhb11	T	A	18: 37,555,232 (GRCm39)	D187E	probably benign	Het
Pcdhb13	A	G	18: 37,576,561 (GRCm39)	Y313C	probably damaging	Het
Pdpn	G	A	4: 143,000,526 (GRCm39)	T102I	possibly damaging	Het
Pear1	A	T	3: 87,665,668 (GRCm39)	C120S	probably damaging	Het
Peg10	T	C	6: 4,756,128 (GRCm39)		probably benign	Het
Ppm1e	A	G	11: 87,128,007 (GRCm39)	W384R	probably benign	Het
Ppp1r10	C	T	17: 36,241,324 (GRCm39)	P700S	unknown	Het
Prl2c5	G	A	13: 13,357,627 (GRCm39)	R13K	probably benign	Het
Prmt3	C	A	7: 49,498,554 (GRCm39)	P487T	probably damaging	Het
Proser3	C	A	7: 30,245,573 (GRCm39)	A144S	possibly damaging	Het
Ptcd1	G	A	5: 145,088,241 (GRCm39)	T590I	probably damaging	Het
Rbsn	A	G	6: 92,170,958 (GRCm39)	V321A	probably damaging	Het
Slc40a1	C	A	1: 45,964,383 (GRCm39)	C14F	probably damaging	Het
Slc6a15	T	C	10: 103,229,369 (GRCm39)	I136T	probably damaging	Het
Slc7a4	A	G	16: 17,391,227 (GRCm39)	I449T	probably benign	Het
Snrnp48	T	A	13: 38,394,165 (GRCm39)		probably null	Het
Tada2a	A	G	11: 84,011,973 (GRCm39)	Y23H	probably benign	Het
Tbx15	A	T	3: 99,259,508 (GRCm39)	S460C	possibly damaging	Het
Tbx21	C	T	11: 96,992,304 (GRCm39)		probably null	Het
Tmcc2	T	G	1: 132,285,534 (GRCm39)	T376P	probably damaging	Het
Tmco4	G	A	4: 138,779,815 (GRCm39)	C420Y	probably damaging	Het
Tmem235	C	A	11: 117,755,020 (GRCm39)	Y157*	probably null	Het
Tmem63b	T	C	17: 45,975,653 (GRCm39)		probably benign	Het
Tnfrsf1a	T	C	6: 125,334,356 (GRCm39)	S92P	possibly damaging	Het
Top3b	A	T	16: 16,704,834 (GRCm39)	T397S	probably benign	Het
Trabd	C	A	15: 88,967,007 (GRCm39)		probably benign	Het
Trbv21	A	T	6: 41,179,764 (GRCm39)	I27L	possibly damaging	Het
Trim3	C	T	7: 105,268,276 (GRCm39)	V169M	probably damaging	Het
Ttn	T	C	2: 76,807,458 (GRCm39)	T92A	probably damaging	Het
Ttn	C	T	2: 76,738,860 (GRCm39)	S3893N	probably benign	Het
Uchl4	A	T	9: 64,142,821 (GRCm39)	I101F	possibly damaging	Het
Vmn1r5	T	A	6: 56,962,583 (GRCm39)	M86K	probably damaging	Het
Vmn2r55	T	A	7: 12,404,830 (GRCm39)	Q191L	possibly damaging	Het
Zfp458	A	T	13: 67,406,012 (GRCm39)	C139*	probably null	Het
Zfp788	T	C	7: 41,299,551 (GRCm39)	L729P	probably damaging	Het
Zmym2	T	A	14: 57,158,102 (GRCm39)	M547K	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
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
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'- ATACCCAACGCCTTTATGAGTGTTG -3'
(R):5'- ACCATCATCACTGAAGGCAG -3'

Sequencing Primer
(F):5'- TGAATACATTTGGACTCCACCGAG -3'
(R):5'- CTGAAGGCAGTATAGACCATTTG -3'

Posted On

2016-08-04