Incidental Mutation 'R5334:Aqp9'
| ID |
423416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aqp9
|
| Ensembl Gene |
ENSMUSG00000032204 |
| Gene Name |
aquaporin 9 |
| Synonyms |
1700020I22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R5334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
71017941-71075170 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 71030292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060917]
[ENSMUST00000060917]
[ENSMUST00000074465]
[ENSMUST00000074465]
[ENSMUST00000113570]
[ENSMUST00000113570]
[ENSMUST00000113570]
[ENSMUST00000113570]
[ENSMUST00000144618]
[ENSMUST00000144618]
|
| AlphaFold |
Q9JJJ3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000060917
|
| SMART Domains |
Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:MIP
|
58 |
288 |
1.1e-48 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000060917
|
| SMART Domains |
Protein: ENSMUSP00000050127
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:MIP
|
58 |
288 |
1.1e-48 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000074465
|
| SMART Domains |
Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000074465
|
| SMART Domains |
Protein: ENSMUSP00000074063
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113570
|
| SMART Domains |
Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113570
|
| SMART Domains |
Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113570
|
| SMART Domains |
Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113570
|
| SMART Domains |
Protein: ENSMUSP00000109200
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
262 |
4.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144618
|
| SMART Domains |
Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
164 |
9.4e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144618
|
| SMART Domains |
Protein: ENSMUSP00000116785
Gene: ENSMUSG00000032204
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP
|
17 |
164 |
9.4e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213527
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ap4s1 |
C |
T |
12: 51,785,454 (GRCm39) |
S142L |
probably benign |
Het |
| Apol11a |
A |
G |
15: 77,400,953 (GRCm39) |
T147A |
probably benign |
Het |
| Arhgap25 |
T |
A |
6: 87,440,243 (GRCm39) |
N468I |
possibly damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,553,636 (GRCm39) |
S924R |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,840,146 (GRCm39) |
L144Q |
probably damaging |
Het |
| Ccbe1 |
T |
C |
18: 66,216,316 (GRCm39) |
I136V |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,167,280 (GRCm39) |
P1119Q |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,865,989 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,542,805 (GRCm39) |
I2455T |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,178,643 (GRCm39) |
T1795A |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,914,538 (GRCm39) |
E541V |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,825,793 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,455,465 (GRCm39) |
V573A |
probably damaging |
Het |
| Fech |
A |
C |
18: 64,597,191 (GRCm39) |
V256G |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gal3st4 |
T |
G |
5: 138,263,983 (GRCm39) |
K339Q |
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,832,316 (GRCm39) |
S1139T |
probably benign |
Het |
| Gpr180 |
A |
T |
14: 118,397,468 (GRCm39) |
S321C |
probably damaging |
Het |
| Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
| Grin2c |
T |
G |
11: 115,146,881 (GRCm39) |
N438T |
possibly damaging |
Het |
| Hcn2 |
T |
C |
10: 79,562,125 (GRCm39) |
S374P |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,631,123 (GRCm39) |
I892F |
probably damaging |
Het |
| Ifi207 |
C |
T |
1: 173,555,097 (GRCm39) |
V869I |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,788,458 (GRCm39) |
Y390H |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnj15 |
A |
G |
16: 95,097,508 (GRCm39) |
K377E |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,897,073 (GRCm39) |
S276P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,968 (GRCm39) |
D280G |
probably damaging |
Het |
| Lmnb2 |
C |
T |
10: 80,739,791 (GRCm39) |
V376I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,699 (GRCm39) |
Q2423R |
probably benign |
Het |
| Mepce |
T |
A |
5: 137,784,889 (GRCm39) |
R29S |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,292,535 (GRCm39) |
|
probably null |
Het |
| Mlip |
T |
A |
9: 77,150,958 (GRCm39) |
T33S |
probably damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,321,754 (GRCm39) |
M94L |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ncapg2 |
T |
C |
12: 116,390,257 (GRCm39) |
I402T |
probably damaging |
Het |
| Or2aj6 |
C |
G |
16: 19,443,241 (GRCm39) |
G203A |
probably benign |
Het |
| Or5m13b |
T |
C |
2: 85,754,058 (GRCm39) |
Y149H |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,439,215 (GRCm39) |
D1301G |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,165 (GRCm39) |
M213V |
probably benign |
Het |
| Plxdc1 |
T |
C |
11: 97,846,931 (GRCm39) |
T163A |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,406 (GRCm39) |
L373P |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,402,665 (GRCm39) |
Y52H |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,129,548 (GRCm39) |
C294R |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,059,809 (GRCm39) |
D903G |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,034 (GRCm39) |
F228S |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,364 (GRCm39) |
E1025G |
possibly damaging |
Het |
| Sult1c2 |
T |
G |
17: 54,271,758 (GRCm39) |
D143A |
probably damaging |
Het |
| Taar1 |
T |
G |
10: 23,796,443 (GRCm39) |
I47R |
probably damaging |
Het |
| Tctn3 |
G |
T |
19: 40,591,266 (GRCm39) |
Q514K |
probably benign |
Het |
| Tg |
T |
C |
15: 66,549,904 (GRCm39) |
F222S |
probably damaging |
Het |
| Tmem236 |
C |
A |
2: 14,223,871 (GRCm39) |
T220K |
possibly damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,942 (GRCm39) |
F222L |
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,899,803 (GRCm39) |
Y52C |
probably damaging |
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 |
|
R4058:Aqp9
|
UTSW |
9 |
71,037,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- TTACGTGAAGACCTCAAATCCC -3'
(R):5'- ACGATCCTGTCAGTGTCTGC -3'
Sequencing Primer
(F):5'- TCCCCATCCTGCCAGAG -3'
(R):5'- GAACTCACTTTGTAGACCAGGCTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation