Incidental Mutation 'R8004:Bbs2'
| ID |
616519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbs2
|
| Ensembl Gene |
ENSMUSG00000031755 |
| Gene Name |
Bardet-Biedl syndrome 2 |
| Synonyms |
2410125H22Rik |
| MMRRC Submission |
046044-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.674)
|
| Stock # |
R8004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94794582-94825556 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94809118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 269
(V269A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034206]
|
| AlphaFold |
Q9CWF6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034206
AA Change: V269A
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034206
Gene: ENSMUSG00000031755
AA Change: V269A
| 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 |
0.1420 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 12,021,286 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
T |
A |
2: 69,087,554 (GRCm39) |
K1070N |
possibly damaging |
Het |
| Ankrd24 |
T |
A |
10: 81,474,191 (GRCm39) |
N179K |
unknown |
Het |
| Atp6v0a4 |
A |
T |
6: 38,027,484 (GRCm39) |
F775L |
possibly damaging |
Het |
| Bpifc |
T |
G |
10: 85,815,148 (GRCm39) |
S273R |
probably benign |
Het |
| Cdan1 |
C |
T |
2: 120,561,924 (GRCm39) |
R20Q |
unknown |
Het |
| Cfap251 |
T |
C |
5: 123,392,513 (GRCm39) |
W216R |
unknown |
Het |
| Chrm2 |
T |
A |
6: 36,500,221 (GRCm39) |
I26N |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,505,273 (GRCm39) |
K669E |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,479,380 (GRCm39) |
I876V |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,591,683 (GRCm39) |
T926S |
probably damaging |
Het |
| Cyp2b23 |
G |
T |
7: 26,378,891 (GRCm39) |
T191K |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,057,532 (GRCm39) |
D342G |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,189,172 (GRCm39) |
V453A |
probably benign |
Het |
| Eif2ak4 |
T |
C |
2: 118,247,775 (GRCm39) |
S271P |
possibly damaging |
Het |
| Fbxw20 |
G |
T |
9: 109,050,449 (GRCm39) |
P392H |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,926,013 (GRCm39) |
E118V |
possibly damaging |
Het |
| Gm2042 |
C |
G |
12: 87,926,921 (GRCm39) |
Q413E |
possibly damaging |
Het |
| Gm904 |
G |
A |
13: 50,799,343 (GRCm39) |
|
probably null |
Het |
| H2-D1 |
A |
G |
17: 35,485,672 (GRCm39) |
S352G |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,067,954 (GRCm39) |
V451L |
probably benign |
Het |
| Igkv1-99 |
T |
C |
6: 68,519,112 (GRCm39) |
V23A |
|
Het |
| Igsf10 |
A |
G |
3: 59,237,130 (GRCm39) |
I1017T |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,513,917 (GRCm39) |
C41Y |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 115,873,531 (GRCm39) |
D249G |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrn2 |
T |
A |
1: 132,865,489 (GRCm39) |
F185I |
probably damaging |
Het |
| Mllt6 |
G |
T |
11: 97,566,966 (GRCm39) |
E635D |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,294,215 (GRCm39) |
E990G |
probably damaging |
Het |
| Myo1h |
A |
T |
5: 114,458,769 (GRCm39) |
D184V |
|
Het |
| Nfatc2ip |
A |
G |
7: 125,989,577 (GRCm39) |
V269A |
possibly damaging |
Het |
| Nfkb1 |
C |
A |
3: 135,297,312 (GRCm39) |
|
probably benign |
Het |
| Nol12 |
A |
T |
15: 78,824,717 (GRCm39) |
K181N |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,379,286 (GRCm39) |
T266S |
probably benign |
Het |
| Oog2 |
A |
T |
4: 143,920,821 (GRCm39) |
I85L |
probably benign |
Het |
| Or5k3 |
T |
A |
16: 58,969,351 (GRCm39) |
V46E |
probably damaging |
Het |
| Or7e171-ps1 |
A |
T |
9: 19,853,408 (GRCm39) |
D109E |
possibly damaging |
Het |
| Parm1 |
A |
C |
5: 91,742,132 (GRCm39) |
S167R |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,158,674 (GRCm39) |
D526G |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Psmd9 |
T |
C |
5: 123,379,998 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,749,242 (GRCm39) |
V1220A |
probably damaging |
Het |
| Rbm25 |
A |
T |
12: 83,721,166 (GRCm39) |
E577D |
possibly damaging |
Het |
| Rbm44 |
T |
A |
1: 91,079,880 (GRCm39) |
|
probably benign |
Het |
| S100a6 |
T |
C |
3: 90,521,119 (GRCm39) |
F16L |
probably benign |
Het |
| Sar1a |
C |
A |
10: 61,520,945 (GRCm39) |
H53Q |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,421,613 (GRCm39) |
A282T |
|
Het |
| Slc35f5 |
A |
T |
1: 125,517,624 (GRCm39) |
H474L |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,525,711 (GRCm39) |
|
probably null |
Het |
| Smc1b |
G |
A |
15: 84,981,815 (GRCm39) |
S735F |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,552 (GRCm39) |
I531K |
possibly damaging |
Het |
| St6galnac5 |
A |
T |
3: 152,545,802 (GRCm39) |
M252K |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,390 (GRCm39) |
H157Q |
possibly damaging |
Het |
| Tbc1d10b |
T |
A |
7: 126,798,183 (GRCm39) |
S653C |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,452,047 (GRCm39) |
E693G |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,499,633 (GRCm39) |
S1855P |
probably benign |
Het |
| Tjp2 |
G |
A |
19: 24,091,484 (GRCm39) |
P559L |
probably damaging |
Het |
| Tmem184b |
A |
G |
15: 79,246,966 (GRCm39) |
S368P |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,902,894 (GRCm39) |
S1461L |
probably benign |
Het |
| Tnpo2 |
T |
C |
8: 85,771,328 (GRCm39) |
F177S |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,506 (GRCm39) |
Y241* |
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 |
|
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 |
|
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'- TGCAGAATTCATTTTCAGGCATTTT -3'
(R):5'- ATTATATGTGTGCATGCCTGTGT -3'
Sequencing Primer
(F):5'- AGGCATTTTTAACCTGATCAAATTG -3'
(R):5'- CCTCCCAAGTGCTAGGATTATAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation