Incidental Mutation 'R3033:Aqp4'
ID |
263359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aqp4
|
Ensembl Gene |
ENSMUSG00000024411 |
Gene Name |
aquaporin 4 |
Synonyms |
aquaporin-4 |
MMRRC Submission |
040549-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R3033 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
15522553-15544039 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 15526617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 288
(E288V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078088
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079081]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079081
AA Change: E288V
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000078088 Gene: ENSMUSG00000024411 AA Change: E288V
Domain | Start | End | E-Value | Type |
Pfam:MIP
|
29 |
248 |
8.7e-76 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015] PHENOTYPE: Homozygotes for a targeted mutation exhibit decreased urine osmolality associated with reduced water permeability in inner medullary collecting ducts, increased survival rates and reduced brain edema after acute water intoxication and ischemic stroke, aswell as significant hearing impairment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,184,227 (GRCm39) |
D591G |
probably benign |
Het |
Astn2 |
T |
C |
4: 65,562,943 (GRCm39) |
Y894C |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Dennd4c |
AGGAGCTCCTGGAGC |
AGGAGC |
4: 86,743,557 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,150,333 (GRCm39) |
D810G |
probably benign |
Het |
Dst |
T |
C |
1: 34,191,366 (GRCm39) |
I222T |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,830,721 (GRCm39) |
T159S |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,219,734 (GRCm39) |
E1002G |
possibly damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,044 (GRCm39) |
E461G |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 51,997,821 (GRCm39) |
C359* |
probably null |
Het |
Ift88 |
G |
A |
14: 57,715,501 (GRCm39) |
D515N |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,733,160 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
T |
C |
11: 58,275,453 (GRCm39) |
Y63H |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,878,992 (GRCm39) |
Y594N |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,568,966 (GRCm39) |
M322V |
probably benign |
Het |
Neurl2 |
T |
C |
2: 164,674,975 (GRCm39) |
E129G |
probably benign |
Het |
Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rapgef2 |
A |
G |
3: 78,981,613 (GRCm39) |
|
probably null |
Het |
Selenbp1 |
T |
C |
3: 94,845,351 (GRCm39) |
V149A |
probably benign |
Het |
Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
Tlr1 |
T |
C |
5: 65,082,912 (GRCm39) |
D555G |
probably damaging |
Het |
Tomm70a |
G |
A |
16: 56,942,388 (GRCm39) |
G55D |
probably damaging |
Het |
Tpte |
T |
A |
8: 22,810,888 (GRCm39) |
S182T |
possibly damaging |
Het |
Zfp58 |
T |
C |
13: 67,639,741 (GRCm39) |
E250G |
probably damaging |
Het |
|
Other mutations in Aqp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00929:Aqp4
|
APN |
18 |
15,526,656 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01700:Aqp4
|
APN |
18 |
15,532,922 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02409:Aqp4
|
APN |
18 |
15,532,782 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02812:Aqp4
|
APN |
18 |
15,530,632 (GRCm39) |
splice site |
probably null |
|
IGL03157:Aqp4
|
APN |
18 |
15,533,037 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03196:Aqp4
|
APN |
18 |
15,526,566 (GRCm39) |
missense |
probably benign |
0.19 |
R0358:Aqp4
|
UTSW |
18 |
15,531,302 (GRCm39) |
missense |
probably benign |
|
R1061:Aqp4
|
UTSW |
18 |
15,531,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R1981:Aqp4
|
UTSW |
18 |
15,526,608 (GRCm39) |
missense |
probably damaging |
0.98 |
R1982:Aqp4
|
UTSW |
18 |
15,526,608 (GRCm39) |
missense |
probably damaging |
0.98 |
R2274:Aqp4
|
UTSW |
18 |
15,526,537 (GRCm39) |
missense |
probably benign |
|
R4608:Aqp4
|
UTSW |
18 |
15,531,183 (GRCm39) |
missense |
probably benign |
0.25 |
R4817:Aqp4
|
UTSW |
18 |
15,532,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R4882:Aqp4
|
UTSW |
18 |
15,531,311 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5870:Aqp4
|
UTSW |
18 |
15,532,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Aqp4
|
UTSW |
18 |
15,531,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R6334:Aqp4
|
UTSW |
18 |
15,526,648 (GRCm39) |
missense |
probably benign |
|
R6856:Aqp4
|
UTSW |
18 |
15,532,953 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7753:Aqp4
|
UTSW |
18 |
15,533,033 (GRCm39) |
missense |
probably benign |
0.00 |
R7839:Aqp4
|
UTSW |
18 |
15,532,737 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8191:Aqp4
|
UTSW |
18 |
15,531,222 (GRCm39) |
missense |
probably benign |
|
R8206:Aqp4
|
UTSW |
18 |
15,526,716 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8759:Aqp4
|
UTSW |
18 |
15,533,048 (GRCm39) |
missense |
probably benign |
|
R9614:Aqp4
|
UTSW |
18 |
15,526,687 (GRCm39) |
missense |
probably benign |
0.01 |
T0970:Aqp4
|
UTSW |
18 |
15,532,940 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Aqp4
|
UTSW |
18 |
15,532,938 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTGAAGCAAGAAACCCGC -3'
(R):5'- CCTCAGATATATTGGGTTGGACC -3'
Sequencing Primer
(F):5'- ACAAATCTGTTTCCTTAATGGGTGGC -3'
(R):5'- CAATCATGGGCGCTGTGCTG -3'
|
Posted On |
2015-02-05 |