Incidental Mutation 'R4058:Aqp9'
ID |
314346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aqp9
|
Ensembl Gene |
ENSMUSG00000032204 |
Gene Name |
aquaporin 9 |
Synonyms |
1700020I22Rik |
MMRRC Submission |
040969-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.171)
|
Stock # |
R4058 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
71017941-71075170 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 71037726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 184
(V184L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060917]
[ENSMUST00000074465]
[ENSMUST00000113570]
[ENSMUST00000144618]
|
AlphaFold |
Q9JJJ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060917
AA Change: V184L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000050127 Gene: ENSMUSG00000032204 AA Change: V184L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:MIP
|
58 |
288 |
1.1e-48 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074465
AA Change: V158L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074063 Gene: ENSMUSG00000032204 AA Change: V158L
Domain | Start | End | E-Value | Type |
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113570
AA Change: V158L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109200 Gene: ENSMUSG00000032204 AA Change: V158L
Domain | Start | End | E-Value | Type |
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144618
AA Change: V158L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116785 Gene: ENSMUSG00000032204 AA Change: V158L
Domain | Start | End | E-Value | Type |
Pfam:MIP
|
17 |
164 |
9.4e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213527
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
88% (38/43) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the aquaglyceroporin subfamily of aquaporins. This protein transports water, glycerol, urea, purines and pyrimidines and plays a role in glycerol metabolism and osteoclast differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] PHENOTYPE: Mice homozygous for a null allele have increased glycerol and triglyceride levels, increased resistance to glycerol-induced lysis, decreased glycerol permeability, and decreased susceptibility to the early stages of parasitic infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
Adam15 |
A |
G |
3: 89,254,362 (GRCm39) |
V145A |
possibly damaging |
Het |
Anxa4 |
C |
T |
6: 86,734,800 (GRCm39) |
|
probably null |
Het |
Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cldn34c4 |
C |
A |
X: 126,629,060 (GRCm39) |
V137F |
probably benign |
Het |
Cngb1 |
T |
C |
8: 95,994,282 (GRCm39) |
E163G |
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,769,764 (GRCm39) |
D113G |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,810,830 (GRCm39) |
V971D |
possibly damaging |
Het |
Gys1 |
A |
G |
7: 45,097,810 (GRCm39) |
|
probably benign |
Het |
H13 |
C |
G |
2: 152,533,794 (GRCm39) |
P227R |
probably damaging |
Het |
Ift22 |
C |
A |
5: 136,940,717 (GRCm39) |
P84Q |
unknown |
Het |
Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
Kdm8 |
T |
A |
7: 125,055,666 (GRCm39) |
Y65N |
probably damaging |
Het |
Lbp |
T |
A |
2: 158,166,550 (GRCm39) |
V368E |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Megf6 |
T |
C |
4: 154,326,989 (GRCm39) |
|
probably benign |
Het |
Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
Mitd1 |
C |
T |
1: 37,920,107 (GRCm39) |
S167N |
probably benign |
Het |
Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
Nkx3-2 |
T |
A |
5: 41,919,406 (GRCm39) |
E194V |
possibly damaging |
Het |
Nup210 |
A |
T |
6: 91,037,602 (GRCm39) |
V757D |
probably benign |
Het |
Opcml |
A |
G |
9: 28,812,884 (GRCm39) |
Y192C |
probably damaging |
Het |
Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,576 (GRCm39) |
S138R |
possibly damaging |
Het |
Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
Pkd2l2 |
T |
C |
18: 34,561,245 (GRCm39) |
F418L |
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
Prep |
G |
A |
10: 45,034,467 (GRCm39) |
V660M |
probably benign |
Het |
Qrfprl |
T |
A |
6: 65,358,525 (GRCm39) |
I83N |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Rhbdd1 |
A |
G |
1: 82,348,102 (GRCm39) |
N235D |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,379,981 (GRCm39) |
D950E |
probably damaging |
Het |
Slc1a5 |
T |
C |
7: 16,529,778 (GRCm39) |
V399A |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,892,487 (GRCm39) |
Q89H |
probably damaging |
Het |
Spta1 |
T |
C |
1: 174,068,703 (GRCm39) |
W2168R |
probably damaging |
Het |
Taok1 |
T |
A |
11: 77,440,264 (GRCm39) |
K581M |
probably benign |
Het |
Tns3 |
T |
C |
11: 8,442,275 (GRCm39) |
D696G |
probably damaging |
Het |
Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
Usp45 |
T |
C |
4: 21,810,746 (GRCm39) |
I314T |
probably damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,441,312 (GRCm39) |
H182L |
probably damaging |
Het |
Vmn2r76 |
A |
C |
7: 85,879,508 (GRCm39) |
M264R |
probably benign |
Het |
|
Other mutations in Aqp9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Aqp9
|
APN |
9 |
71,040,013 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01012:Aqp9
|
APN |
9 |
71,037,831 (GRCm39) |
splice site |
probably benign |
|
IGL01667:Aqp9
|
APN |
9 |
71,045,495 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02225:Aqp9
|
APN |
9 |
71,037,829 (GRCm39) |
splice site |
probably benign |
|
IGL02389:Aqp9
|
APN |
9 |
71,030,188 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02551:Aqp9
|
APN |
9 |
71,039,922 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02904:Aqp9
|
APN |
9 |
71,045,430 (GRCm39) |
missense |
probably damaging |
0.98 |
R0411:Aqp9
|
UTSW |
9 |
71,037,726 (GRCm39) |
missense |
probably benign |
0.00 |
R0751:Aqp9
|
UTSW |
9 |
71,045,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R1656:Aqp9
|
UTSW |
9 |
71,045,385 (GRCm39) |
missense |
probably benign |
0.01 |
R1731:Aqp9
|
UTSW |
9 |
71,030,250 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1733:Aqp9
|
UTSW |
9 |
71,019,624 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1865:Aqp9
|
UTSW |
9 |
71,019,658 (GRCm39) |
missense |
probably benign |
0.29 |
R4756:Aqp9
|
UTSW |
9 |
71,070,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Aqp9
|
UTSW |
9 |
71,030,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R4904:Aqp9
|
UTSW |
9 |
71,069,685 (GRCm39) |
intron |
probably benign |
|
R5334:Aqp9
|
UTSW |
9 |
71,030,292 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5511:Aqp9
|
UTSW |
9 |
71,070,375 (GRCm39) |
utr 5 prime |
probably benign |
|
R5771:Aqp9
|
UTSW |
9 |
71,030,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R6329:Aqp9
|
UTSW |
9 |
71,039,966 (GRCm39) |
nonsense |
probably null |
|
R6831:Aqp9
|
UTSW |
9 |
71,069,702 (GRCm39) |
intron |
probably benign |
|
R6838:Aqp9
|
UTSW |
9 |
71,019,498 (GRCm39) |
missense |
probably benign |
0.41 |
R7337:Aqp9
|
UTSW |
9 |
71,069,764 (GRCm39) |
missense |
probably benign |
0.23 |
R7466:Aqp9
|
UTSW |
9 |
71,070,543 (GRCm39) |
splice site |
probably null |
|
R7946:Aqp9
|
UTSW |
9 |
71,030,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R8316:Aqp9
|
UTSW |
9 |
71,045,495 (GRCm39) |
missense |
probably benign |
0.13 |
R8885:Aqp9
|
UTSW |
9 |
71,069,593 (GRCm39) |
intron |
probably benign |
|
R8968:Aqp9
|
UTSW |
9 |
71,045,485 (GRCm39) |
nonsense |
probably null |
|
R9497:Aqp9
|
UTSW |
9 |
71,069,651 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCAGTTCACAGAGACACCTC -3'
(R):5'- CTGCTGCTGTGATAGAGGAGAG -3'
Sequencing Primer
(F):5'- CTCTGACTGGGGGATGCAATC -3'
(R):5'- CAGATATGTCCACAGGCCAGTTTG -3'
|
Posted On |
2015-04-30 |