Incidental Mutation 'IGL02409:Aqp4'
| ID |
292235 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aqp4
|
| Ensembl Gene |
ENSMUSG00000024411 |
| Gene Name |
aquaporin 4 |
| Synonyms |
aquaporin-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL02409
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
15522553-15544039 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15532782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 104
(M104L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078088
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079081]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079081
AA Change: M104L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000078088
Gene: ENSMUSG00000024411
AA Change: M104L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
29 |
248 |
8.7e-76 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdkn1a |
T |
C |
17: 29,317,428 (GRCm39) |
V16A |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,321,271 (GRCm39) |
V514F |
probably damaging |
Het |
| Cmklr2 |
T |
A |
1: 63,222,875 (GRCm39) |
N120I |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,226,706 (GRCm39) |
N2794S |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,837,793 (GRCm39) |
T281A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,451,204 (GRCm39) |
N840K |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,621,088 (GRCm39) |
N540S |
possibly damaging |
Het |
| Elavl1 |
A |
T |
8: 4,339,838 (GRCm39) |
I248N |
possibly damaging |
Het |
| Fam120a |
A |
G |
13: 49,120,835 (GRCm39) |
V157A |
probably benign |
Het |
| Fcrl2 |
G |
A |
3: 87,160,030 (GRCm39) |
P408L |
probably benign |
Het |
| Grin2b |
T |
A |
6: 136,020,906 (GRCm39) |
M132L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,870,217 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
G |
2: 41,335,208 (GRCm39) |
K778T |
possibly damaging |
Het |
| Mapk10 |
T |
A |
5: 103,076,096 (GRCm39) |
E389D |
possibly damaging |
Het |
| Ms4a7 |
G |
T |
19: 11,301,807 (GRCm39) |
Y62* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,075 (GRCm39) |
T2674A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,368,494 (GRCm39) |
L2613P |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,384,337 (GRCm39) |
Y266F |
probably damaging |
Het |
| Or10a3m |
A |
G |
7: 108,313,366 (GRCm39) |
I269V |
probably benign |
Het |
| Or14j6 |
T |
C |
17: 38,214,679 (GRCm39) |
Y81H |
probably damaging |
Het |
| Or1j14 |
T |
A |
2: 36,418,165 (GRCm39) |
V247E |
probably damaging |
Het |
| Or4c110 |
C |
T |
2: 88,832,254 (GRCm39) |
C126Y |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,792,597 (GRCm39) |
I1428N |
probably benign |
Het |
| Ppil4 |
T |
C |
10: 7,674,328 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,697,144 (GRCm39) |
V547A |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,701,989 (GRCm39) |
K155R |
possibly damaging |
Het |
| Skap2 |
T |
C |
6: 51,884,938 (GRCm39) |
D234G |
possibly damaging |
Het |
| Sult2a4 |
C |
T |
7: 13,718,844 (GRCm39) |
W133* |
probably null |
Het |
| Tbc1d2b |
C |
T |
9: 90,104,405 (GRCm39) |
S579N |
probably benign |
Het |
| Tdrkh |
T |
A |
3: 94,337,919 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
A |
T |
17: 81,340,117 (GRCm39) |
F377L |
probably damaging |
Het |
| Tmem132d |
T |
C |
5: 127,861,952 (GRCm39) |
D723G |
probably damaging |
Het |
| Tnfrsf23 |
A |
T |
7: 143,222,308 (GRCm39) |
L168Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,784,974 (GRCm39) |
T818A |
unknown |
Het |
| Uox |
A |
T |
3: 146,330,381 (GRCm39) |
D130V |
probably benign |
Het |
| Vmn2r45 |
T |
C |
7: 8,488,727 (GRCm39) |
Y101C |
probably benign |
Het |
| Wdr1 |
C |
T |
5: 38,688,453 (GRCm39) |
D161N |
probably benign |
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 |
|
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 |
|
|
R3033:Aqp4
|
UTSW |
18 |
15,526,617 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation