Incidental Mutation 'R3918:Best2'
| ID |
307501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Best2
|
| Ensembl Gene |
ENSMUSG00000052819 |
| Gene Name |
bestrophin 2 |
| Synonyms |
Vmd2l1 |
| MMRRC Submission |
040816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R3918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85733831-85741160 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 85736353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 270
(D270A)
|
| 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 damaging
Transcript: ENSMUST00000059072
AA Change: D270A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: D270A
| 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 damaging
Transcript: ENSMUST00000209322
AA Change: D270A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209421
AA Change: D270A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,766,774 (GRCm39) |
I52T |
probably damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,646,441 (GRCm39) |
R447H |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,676,515 (GRCm39) |
K72E |
probably benign |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Col18a1 |
T |
C |
10: 76,889,192 (GRCm39) |
M1721V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,865,000 (GRCm39) |
T39A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,761,800 (GRCm39) |
M3897L |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,490,509 (GRCm39) |
I395V |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,050 (GRCm39) |
G446D |
probably damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
C |
1: 150,566,361 (GRCm39) |
T2214S |
probably benign |
Het |
| Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,621,190 (GRCm39) |
S266P |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,748,401 (GRCm39) |
Q226R |
probably benign |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,220,064 (GRCm39) |
E138K |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,778,799 (GRCm39) |
T516A |
probably damaging |
Het |
| Ola1 |
A |
G |
2: 72,972,683 (GRCm39) |
V200A |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,261,074 (GRCm39) |
V33D |
possibly damaging |
Het |
| Patj |
C |
A |
4: 98,344,455 (GRCm39) |
P20H |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,101 (GRCm39) |
W416R |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppp1r36 |
G |
A |
12: 76,464,431 (GRCm39) |
V10I |
probably benign |
Het |
| Rnf150 |
C |
T |
8: 83,591,090 (GRCm39) |
T151I |
probably benign |
Het |
| Tank |
G |
T |
2: 61,474,130 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trappc13 |
T |
C |
13: 104,297,590 (GRCm39) |
T105A |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,838 (GRCm39) |
S1066P |
probably damaging |
Het |
| Txndc9 |
G |
A |
1: 38,033,131 (GRCm39) |
Q84* |
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,846,474 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,702 (GRCm39) |
K106E |
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 |
|
|
R3691:Best2
|
UTSW |
8 |
85,737,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AAGTTGGTCTCAAAGTCGTCG -3'
(R):5'- CTCTGATGTTCAATGCCAGTAC -3'
Sequencing Primer
(F):5'- GGTCTCAAAGTCGTCGTCGTC -3'
(R):5'- AATGCCAGTACTGATCTTTCCAGGAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation