Incidental Mutation 'R3691:Best2'
| ID |
268784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Best2
|
| Ensembl Gene |
ENSMUSG00000052819 |
| Gene Name |
bestrophin 2 |
| Synonyms |
Vmd2l1 |
| MMRRC Submission |
040686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R3691 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85733831-85741160 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85737883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 171
(F171L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059072]
[ENSMUST00000209322]
[ENSMUST00000209421]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059072
AA Change: F171L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: F171L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bestrophin
|
8 |
316 |
5.8e-118 |
PFAM |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209322
AA Change: F171L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209421
AA Change: F171L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Meta Mutation Damage Score |
0.0720 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (34/34) |
| 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 bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit ocular hypotension. Both heterozygous and homozygous null mice show a greater reduction in intraocular pressure following treatment with brinzolamide. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,758,419 (GRCm39) |
S254P |
probably damaging |
Het |
| Cfap43 |
G |
A |
19: 47,885,512 (GRCm39) |
L368F |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
T |
C |
14: 75,991,878 (GRCm39) |
M1V |
probably null |
Het |
| Drosha |
G |
A |
15: 12,834,724 (GRCm39) |
R276H |
unknown |
Het |
| Efr3b |
T |
A |
12: 4,032,059 (GRCm39) |
D183V |
possibly damaging |
Het |
| Epha1 |
T |
C |
6: 42,338,064 (GRCm39) |
T794A |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,887 (GRCm39) |
V281I |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,610,583 (GRCm39) |
Y571C |
probably benign |
Het |
| Flywch1 |
G |
A |
17: 23,982,186 (GRCm39) |
P6L |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,929,371 (GRCm39) |
T3925I |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,011,149 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
T |
G |
11: 121,796,751 (GRCm39) |
Q366P |
possibly damaging |
Het |
| Gm3248 |
A |
G |
14: 5,943,068 (GRCm38) |
I161T |
probably damaging |
Het |
| Gzmg |
T |
A |
14: 56,395,134 (GRCm39) |
|
probably benign |
Het |
| Lrrc69 |
A |
T |
4: 14,795,980 (GRCm39) |
N22K |
possibly damaging |
Het |
| Med13l |
A |
G |
5: 118,859,562 (GRCm39) |
R250G |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mxi1 |
T |
C |
19: 53,358,062 (GRCm39) |
L73P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Napb |
T |
C |
2: 148,544,977 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
A |
G |
13: 69,760,456 (GRCm39) |
N45D |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,514 (GRCm39) |
F39L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,076,999 (GRCm39) |
M111V |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,620,493 (GRCm39) |
D771G |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,668 (GRCm39) |
D27G |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,146,797 (GRCm39) |
F523S |
probably benign |
Het |
| Zan |
A |
G |
5: 137,418,281 (GRCm39) |
I2939T |
unknown |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,595 (GRCm39) |
T1522A |
probably benign |
Het |
|
| Other mutations in Best2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01398:Best2
|
APN |
8 |
85,735,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1165:Best2
|
UTSW |
8 |
85,737,789 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1446:Best2
|
UTSW |
8 |
85,734,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1715:Best2
|
UTSW |
8 |
85,737,852 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1928:Best2
|
UTSW |
8 |
85,737,882 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1944:Best2
|
UTSW |
8 |
85,737,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1951:Best2
|
UTSW |
8 |
85,737,858 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2006:Best2
|
UTSW |
8 |
85,739,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3918:Best2
|
UTSW |
8 |
85,736,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4693:Best2
|
UTSW |
8 |
85,737,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6149:Best2
|
UTSW |
8 |
85,739,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6696:Best2
|
UTSW |
8 |
85,737,873 (GRCm39) |
nonsense |
probably null |
|
|
R6857:Best2
|
UTSW |
8 |
85,734,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6983:Best2
|
UTSW |
8 |
85,736,405 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7008:Best2
|
UTSW |
8 |
85,739,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7266:Best2
|
UTSW |
8 |
85,734,393 (GRCm39) |
missense |
probably benign |
|
|
R7417:Best2
|
UTSW |
8 |
85,736,295 (GRCm39) |
splice site |
probably null |
|
|
R7782:Best2
|
UTSW |
8 |
85,736,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8015:Best2
|
UTSW |
8 |
85,735,983 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8864:Best2
|
UTSW |
8 |
85,735,942 (GRCm39) |
missense |
probably benign |
|
|
R9072:Best2
|
UTSW |
8 |
85,737,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Best2
|
UTSW |
8 |
85,740,147 (GRCm39) |
missense |
|
|
|
R9614:Best2
|
UTSW |
8 |
85,740,051 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCATGGAAATCTGGTAAGGG -3'
(R):5'- AGCACAGCAGTCTTCAAACG -3'
Sequencing Primer
(F):5'- TTCGACCCACTCCAACGTG -3'
(R):5'- GCGAGTAACGTTGGATCA -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation